Incidental Mutation 'R5644:Nipbl'
| ID |
441007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nipbl
|
| Ensembl Gene |
ENSMUSG00000022141 |
| Gene Name |
NIPBL cohesin loading factor |
| Synonyms |
4933421G18Rik, 4921518A06Rik |
| MMRRC Submission |
043292-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R5644 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
8320101-8473947 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 8388391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 410
(V410I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052965]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052965
AA Change: V410I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059385
Gene: ENSMUSG00000022141
AA Change: V410I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
639 |
652 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1081 |
1097 |
N/A |
INTRINSIC |
|
low complexity region
|
1102 |
1107 |
N/A |
INTRINSIC |
|
low complexity region
|
1114 |
1139 |
N/A |
INTRINSIC |
|
low complexity region
|
1165 |
1176 |
N/A |
INTRINSIC |
|
low complexity region
|
1389 |
1396 |
N/A |
INTRINSIC |
|
low complexity region
|
1577 |
1586 |
N/A |
INTRINSIC |
|
coiled coil region
|
1628 |
1656 |
N/A |
INTRINSIC |
|
Pfam:Cohesin_HEAT
|
1788 |
1829 |
1.1e-14 |
PFAM |
|
Pfam:Nipped-B_C
|
2269 |
2450 |
2.8e-68 |
PFAM |
|
low complexity region
|
2477 |
2501 |
N/A |
INTRINSIC |
|
low complexity region
|
2502 |
2512 |
N/A |
INTRINSIC |
|
low complexity region
|
2538 |
2550 |
N/A |
INTRINSIC |
|
low complexity region
|
2626 |
2632 |
N/A |
INTRINSIC |
|
low complexity region
|
2660 |
2684 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice are embryonic lethal. Heterozygous null mice are growth-retarded and show various skeletal anomalies. Heterozygotes for a gene-trap allele are small and show craniofacial, heart, eye, hearing and behavioral defects, delayed bone maturation, reduced body fat, and postnatal mortality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
T |
10: 14,308,678 (GRCm39) |
D805E |
probably damaging |
Het |
| Adrb2 |
A |
T |
18: 62,311,753 (GRCm39) |
N357K |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,988,021 (GRCm39) |
K3102E |
possibly damaging |
Het |
| Alkal2 |
T |
A |
12: 30,934,889 (GRCm39) |
L36Q |
probably damaging |
Het |
| Alkbh8 |
G |
T |
9: 3,385,384 (GRCm39) |
V559F |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,365,259 (GRCm39) |
T346A |
probably benign |
Het |
| Arhgap10 |
C |
T |
8: 78,137,684 (GRCm39) |
M302I |
probably benign |
Het |
| Asah1 |
G |
T |
8: 41,813,332 (GRCm39) |
T27K |
possibly damaging |
Het |
| Bag2 |
A |
G |
1: 33,786,034 (GRCm39) |
V96A |
probably damaging |
Het |
| Bicd1 |
C |
T |
6: 149,421,901 (GRCm39) |
A874V |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,961,391 (GRCm39) |
I189M |
probably benign |
Het |
| Cacna1a |
A |
G |
8: 85,189,406 (GRCm39) |
Y119C |
probably damaging |
Het |
| Calcr |
A |
G |
6: 3,708,538 (GRCm39) |
I216T |
probably damaging |
Het |
| Ccar1 |
T |
C |
10: 62,607,757 (GRCm39) |
N302S |
probably benign |
Het |
| Ccdc93 |
A |
G |
1: 121,411,065 (GRCm39) |
H446R |
probably benign |
Het |
| Cct6b |
A |
T |
11: 82,613,281 (GRCm39) |
L420Q |
probably benign |
Het |
| Cemip |
T |
C |
7: 83,638,392 (GRCm39) |
T273A |
probably benign |
Het |
| Cep128 |
A |
T |
12: 91,315,625 (GRCm39) |
I87K |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,860,532 (GRCm39) |
L698P |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,784,114 (GRCm39) |
N473I |
possibly damaging |
Het |
| Clec12b |
T |
A |
6: 129,356,923 (GRCm39) |
I172L |
probably benign |
Het |
| Cntnap5b |
A |
C |
1: 100,311,326 (GRCm39) |
E606D |
probably benign |
Het |
| Cyp2c67 |
A |
C |
19: 39,604,138 (GRCm39) |
V406G |
possibly damaging |
Het |
| Dhx57 |
T |
C |
17: 80,546,302 (GRCm39) |
I1308V |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,580,138 (GRCm39) |
M1599K |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,462,001 (GRCm39) |
D133E |
probably benign |
Het |
| Dpp8 |
G |
A |
9: 64,953,017 (GRCm39) |
W231* |
probably null |
Het |
| Dvl3 |
T |
A |
16: 20,345,026 (GRCm39) |
I353N |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,969,912 (GRCm39) |
I1187N |
possibly damaging |
Het |
| Fn1 |
A |
T |
1: 71,666,409 (GRCm39) |
Y875N |
probably damaging |
Het |
| Gaa |
T |
A |
11: 119,171,361 (GRCm39) |
M671K |
possibly damaging |
Het |
| Gm11939 |
T |
C |
11: 99,450,138 (GRCm39) |
D52G |
probably damaging |
Het |
| Gm14403 |
A |
T |
2: 177,199,054 (GRCm39) |
H50L |
possibly damaging |
Het |
| Gpam |
A |
T |
19: 55,077,331 (GRCm39) |
D153E |
probably benign |
Het |
| Gzma |
T |
C |
13: 113,234,794 (GRCm39) |
T66A |
probably damaging |
Het |
| Hnmt |
A |
T |
2: 23,904,251 (GRCm39) |
W137R |
probably damaging |
Het |
| Hsd17b7 |
A |
T |
1: 169,783,517 (GRCm39) |
V297D |
probably damaging |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,680 (GRCm39) |
S107T |
possibly damaging |
Het |
| Kif12 |
T |
A |
4: 63,084,130 (GRCm39) |
Q624L |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,322,939 (GRCm39) |
D660G |
probably damaging |
Het |
| Klf13 |
T |
C |
7: 63,541,308 (GRCm39) |
|
probably benign |
Het |
| Klhl41 |
A |
G |
2: 69,500,815 (GRCm39) |
Y92C |
probably damaging |
Het |
| Klrc2 |
A |
T |
6: 129,633,420 (GRCm39) |
C186S |
probably damaging |
Het |
| Lao1 |
T |
A |
4: 118,822,433 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
A |
G |
14: 102,166,772 (GRCm39) |
|
probably benign |
Het |
| Lyst |
A |
T |
13: 13,812,081 (GRCm39) |
Q831L |
possibly damaging |
Het |
| Lzts1 |
A |
G |
8: 69,591,729 (GRCm39) |
S140P |
possibly damaging |
Het |
| Man2b1 |
T |
A |
8: 85,820,839 (GRCm39) |
I679N |
possibly damaging |
Het |
| Mgat5b |
T |
A |
11: 116,864,226 (GRCm39) |
V464E |
probably damaging |
Het |
| Mrgprb5 |
G |
A |
7: 47,817,955 (GRCm39) |
T260I |
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,156,477 (GRCm39) |
T825A |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,524,770 (GRCm39) |
K597I |
probably damaging |
Het |
| Naalad2 |
G |
T |
9: 18,246,227 (GRCm39) |
N568K |
possibly damaging |
Het |
| Neurl1a |
A |
G |
19: 47,167,916 (GRCm39) |
N4S |
probably benign |
Het |
| Nfx1 |
T |
C |
4: 40,984,973 (GRCm39) |
W366R |
probably null |
Het |
| Nlrp9a |
A |
T |
7: 26,257,993 (GRCm39) |
H537L |
possibly damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,304,050 (GRCm39) |
N46D |
probably benign |
Het |
| Or14j10 |
T |
A |
17: 37,935,323 (GRCm39) |
I68F |
probably benign |
Het |
| Or4c101 |
T |
A |
2: 88,389,849 (GRCm39) |
M1K |
probably null |
Het |
| Or4f60 |
A |
T |
2: 111,902,013 (GRCm39) |
M305K |
probably benign |
Het |
| Or5ae1 |
C |
A |
7: 84,565,327 (GRCm39) |
F113L |
probably benign |
Het |
| Or5b95 |
A |
T |
19: 12,658,336 (GRCm39) |
Y288F |
probably damaging |
Het |
| Or5p58 |
A |
T |
7: 107,694,011 (GRCm39) |
Y255* |
probably null |
Het |
| Or5p60 |
A |
G |
7: 107,723,858 (GRCm39) |
F204S |
probably benign |
Het |
| Or6c2 |
A |
T |
10: 129,362,972 (GRCm39) |
N292I |
probably damaging |
Het |
| Or6c76b |
T |
A |
10: 129,693,296 (GRCm39) |
V303E |
probably benign |
Het |
| Or8u10 |
T |
C |
2: 85,915,503 (GRCm39) |
N206S |
probably damaging |
Het |
| P2ry12 |
A |
T |
3: 59,125,516 (GRCm39) |
M53K |
possibly damaging |
Het |
| Pcca |
G |
A |
14: 123,124,481 (GRCm39) |
C684Y |
probably damaging |
Het |
| Pdzd7 |
A |
G |
19: 45,028,619 (GRCm39) |
S175P |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,607,322 (GRCm39) |
C291R |
probably damaging |
Het |
| Plekhg5 |
T |
C |
4: 152,188,797 (GRCm39) |
V200A |
probably benign |
Het |
| Pola2 |
A |
G |
19: 6,011,198 (GRCm39) |
V42A |
probably benign |
Het |
| Pramel16 |
C |
T |
4: 143,675,374 (GRCm39) |
G484D |
probably benign |
Het |
| Prkcd |
C |
A |
14: 30,329,370 (GRCm39) |
K23N |
probably benign |
Het |
| Ptdss1 |
T |
C |
13: 67,120,604 (GRCm39) |
F267L |
probably damaging |
Het |
| Rad54l |
C |
T |
4: 115,956,144 (GRCm39) |
S561N |
probably benign |
Het |
| Rai14 |
T |
A |
15: 10,593,137 (GRCm39) |
H169L |
probably benign |
Het |
| Rfc3 |
C |
T |
5: 151,573,444 (GRCm39) |
V40I |
probably benign |
Het |
| Rpl31 |
C |
T |
1: 39,409,108 (GRCm39) |
R41C |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,558,013 (GRCm39) |
M1275I |
probably benign |
Het |
| Ryr2 |
C |
A |
13: 11,610,468 (GRCm39) |
E4119D |
probably damaging |
Het |
| Senp7 |
T |
C |
16: 56,004,512 (GRCm39) |
|
silent |
Het |
| Sfmbt2 |
A |
T |
2: 10,573,184 (GRCm39) |
I571F |
probably damaging |
Het |
| Sit1 |
T |
A |
4: 43,483,562 (GRCm39) |
T8S |
probably benign |
Het |
| Slc22a30 |
T |
C |
19: 8,381,980 (GRCm39) |
H97R |
possibly damaging |
Het |
| Slco1a5 |
A |
C |
6: 142,183,320 (GRCm39) |
|
probably null |
Het |
| Smc6 |
T |
A |
12: 11,339,995 (GRCm39) |
N434K |
probably benign |
Het |
| Snap91 |
G |
T |
9: 86,672,206 (GRCm39) |
|
probably null |
Het |
| Srsf10 |
T |
C |
4: 135,591,131 (GRCm39) |
S194P |
possibly damaging |
Het |
| St14 |
T |
C |
9: 31,017,806 (GRCm39) |
M205V |
probably benign |
Het |
| Syndig1 |
A |
T |
2: 149,741,428 (GRCm39) |
I5F |
possibly damaging |
Het |
| Tbrg1 |
T |
C |
9: 37,560,709 (GRCm39) |
D389G |
probably benign |
Het |
| Tcaf2 |
G |
A |
6: 42,619,707 (GRCm39) |
R107C |
possibly damaging |
Het |
| Tpmt |
T |
A |
13: 47,182,435 (GRCm39) |
D163V |
probably benign |
Het |
| Trim15 |
T |
C |
17: 37,177,713 (GRCm39) |
E94G |
probably damaging |
Het |
| Trit1 |
T |
C |
4: 122,942,965 (GRCm39) |
I279T |
probably damaging |
Het |
| Trpm8 |
T |
A |
1: 88,287,461 (GRCm39) |
F815I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,768,867 (GRCm39) |
T2856S |
probably damaging |
Het |
| Ugdh |
A |
T |
5: 65,574,204 (GRCm39) |
D446E |
probably benign |
Het |
| Unc5c |
C |
T |
3: 141,383,886 (GRCm39) |
A88V |
probably damaging |
Het |
| Vmn1r43 |
T |
C |
6: 89,847,354 (GRCm39) |
N44S |
probably damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,831,977 (GRCm39) |
M271L |
probably benign |
Het |
| Wdr74 |
T |
A |
19: 8,715,240 (GRCm39) |
V133E |
probably damaging |
Het |
| Zfp607b |
T |
C |
7: 27,403,194 (GRCm39) |
L550P |
probably damaging |
Het |
|
| Other mutations in Nipbl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Nipbl
|
APN |
15 |
8,396,157 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00712:Nipbl
|
APN |
15 |
8,398,958 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00789:Nipbl
|
APN |
15 |
8,326,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01025:Nipbl
|
APN |
15 |
8,379,939 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01087:Nipbl
|
APN |
15 |
8,379,981 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01474:Nipbl
|
APN |
15 |
8,340,693 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01537:Nipbl
|
APN |
15 |
8,380,023 (GRCm39) |
missense |
probably benign |
|
|
IGL01723:Nipbl
|
APN |
15 |
8,364,555 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01749:Nipbl
|
APN |
15 |
8,391,305 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02398:Nipbl
|
APN |
15 |
8,356,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02437:Nipbl
|
APN |
15 |
8,388,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02450:Nipbl
|
APN |
15 |
8,373,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02477:Nipbl
|
APN |
15 |
8,353,131 (GRCm39) |
splice site |
probably null |
|
|
IGL02547:Nipbl
|
APN |
15 |
8,381,082 (GRCm39) |
missense |
probably benign |
|
|
IGL02678:Nipbl
|
APN |
15 |
8,380,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02679:Nipbl
|
APN |
15 |
8,325,037 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03003:Nipbl
|
APN |
15 |
8,379,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03117:Nipbl
|
APN |
15 |
8,361,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03162:Nipbl
|
APN |
15 |
8,368,463 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL03224:Nipbl
|
APN |
15 |
8,322,569 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03339:Nipbl
|
APN |
15 |
8,380,360 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0346_Nipbl_297
|
UTSW |
15 |
8,390,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0347_Nipbl_476
|
UTSW |
15 |
8,380,216 (GRCm39) |
missense |
probably benign |
|
|
R3620_nipbl_616
|
UTSW |
15 |
8,362,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6388_Nipbl_651
|
UTSW |
15 |
8,330,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8441_Nipbl_224
|
UTSW |
15 |
8,322,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0271:Nipbl
|
UTSW |
15 |
8,391,221 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0346:Nipbl
|
UTSW |
15 |
8,390,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0347:Nipbl
|
UTSW |
15 |
8,380,216 (GRCm39) |
missense |
probably benign |
|
|
R0422:Nipbl
|
UTSW |
15 |
8,381,112 (GRCm39) |
missense |
probably benign |
|
|
R0486:Nipbl
|
UTSW |
15 |
8,368,354 (GRCm39) |
splice site |
probably benign |
|
|
R0652:Nipbl
|
UTSW |
15 |
8,332,964 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0667:Nipbl
|
UTSW |
15 |
8,390,488 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0689:Nipbl
|
UTSW |
15 |
8,322,562 (GRCm39) |
splice site |
probably null |
|
|
R0726:Nipbl
|
UTSW |
15 |
8,381,039 (GRCm39) |
missense |
probably benign |
|
|
R0881:Nipbl
|
UTSW |
15 |
8,337,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0904:Nipbl
|
UTSW |
15 |
8,391,202 (GRCm39) |
missense |
probably benign |
|
|
R0969:Nipbl
|
UTSW |
15 |
8,321,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1401:Nipbl
|
UTSW |
15 |
8,401,657 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1479:Nipbl
|
UTSW |
15 |
8,379,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1495:Nipbl
|
UTSW |
15 |
8,380,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1609:Nipbl
|
UTSW |
15 |
8,396,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1679:Nipbl
|
UTSW |
15 |
8,332,396 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1756:Nipbl
|
UTSW |
15 |
8,368,035 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1778:Nipbl
|
UTSW |
15 |
8,348,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Nipbl
|
UTSW |
15 |
8,373,001 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1883:Nipbl
|
UTSW |
15 |
8,356,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1914:Nipbl
|
UTSW |
15 |
8,373,114 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1915:Nipbl
|
UTSW |
15 |
8,373,114 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2030:Nipbl
|
UTSW |
15 |
8,379,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2046:Nipbl
|
UTSW |
15 |
8,353,951 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2076:Nipbl
|
UTSW |
15 |
8,340,691 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2163:Nipbl
|
UTSW |
15 |
8,366,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2170:Nipbl
|
UTSW |
15 |
8,322,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2425:Nipbl
|
UTSW |
15 |
8,380,966 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2475:Nipbl
|
UTSW |
15 |
8,364,490 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2484:Nipbl
|
UTSW |
15 |
8,353,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2970:Nipbl
|
UTSW |
15 |
8,340,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3116:Nipbl
|
UTSW |
15 |
8,373,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3620:Nipbl
|
UTSW |
15 |
8,362,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3725:Nipbl
|
UTSW |
15 |
8,325,145 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3745:Nipbl
|
UTSW |
15 |
8,388,358 (GRCm39) |
missense |
probably benign |
|
|
R3902:Nipbl
|
UTSW |
15 |
8,379,730 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3960:Nipbl
|
UTSW |
15 |
8,380,018 (GRCm39) |
missense |
probably benign |
|
|
R4164:Nipbl
|
UTSW |
15 |
8,368,418 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4246:Nipbl
|
UTSW |
15 |
8,361,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4381:Nipbl
|
UTSW |
15 |
8,388,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4394:Nipbl
|
UTSW |
15 |
8,391,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4439:Nipbl
|
UTSW |
15 |
8,368,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4440:Nipbl
|
UTSW |
15 |
8,396,142 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4441:Nipbl
|
UTSW |
15 |
8,396,142 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4672:Nipbl
|
UTSW |
15 |
8,332,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Nipbl
|
UTSW |
15 |
8,395,313 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5300:Nipbl
|
UTSW |
15 |
8,380,981 (GRCm39) |
missense |
probably benign |
|
|
R5428:Nipbl
|
UTSW |
15 |
8,359,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5641:Nipbl
|
UTSW |
15 |
8,396,196 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5643:Nipbl
|
UTSW |
15 |
8,388,391 (GRCm39) |
missense |
probably benign |
|
|
R5681:Nipbl
|
UTSW |
15 |
8,330,866 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5741:Nipbl
|
UTSW |
15 |
8,354,133 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5899:Nipbl
|
UTSW |
15 |
8,364,328 (GRCm39) |
splice site |
probably null |
|
|
R5970:Nipbl
|
UTSW |
15 |
8,326,302 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6041:Nipbl
|
UTSW |
15 |
8,353,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6059:Nipbl
|
UTSW |
15 |
8,325,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6213:Nipbl
|
UTSW |
15 |
8,364,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6216:Nipbl
|
UTSW |
15 |
8,347,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6236:Nipbl
|
UTSW |
15 |
8,354,064 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6267:Nipbl
|
UTSW |
15 |
8,330,379 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6296:Nipbl
|
UTSW |
15 |
8,330,379 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6388:Nipbl
|
UTSW |
15 |
8,330,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6427:Nipbl
|
UTSW |
15 |
8,381,049 (GRCm39) |
missense |
probably benign |
|
|
R6707:Nipbl
|
UTSW |
15 |
8,354,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6731:Nipbl
|
UTSW |
15 |
8,352,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6921:Nipbl
|
UTSW |
15 |
8,332,969 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7239:Nipbl
|
UTSW |
15 |
8,321,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7346:Nipbl
|
UTSW |
15 |
8,373,090 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7485:Nipbl
|
UTSW |
15 |
8,359,779 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7486:Nipbl
|
UTSW |
15 |
8,325,120 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7598:Nipbl
|
UTSW |
15 |
8,372,977 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7609:Nipbl
|
UTSW |
15 |
8,335,356 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7674:Nipbl
|
UTSW |
15 |
8,322,585 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7706:Nipbl
|
UTSW |
15 |
8,381,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7760:Nipbl
|
UTSW |
15 |
8,388,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7766:Nipbl
|
UTSW |
15 |
8,326,333 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7825:Nipbl
|
UTSW |
15 |
8,320,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7862:Nipbl
|
UTSW |
15 |
8,355,236 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7958:Nipbl
|
UTSW |
15 |
8,340,742 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8077:Nipbl
|
UTSW |
15 |
8,340,734 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8119:Nipbl
|
UTSW |
15 |
8,388,696 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8355:Nipbl
|
UTSW |
15 |
8,364,528 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8441:Nipbl
|
UTSW |
15 |
8,322,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8455:Nipbl
|
UTSW |
15 |
8,364,528 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8717:Nipbl
|
UTSW |
15 |
8,368,225 (GRCm39) |
missense |
probably benign |
|
|
R8739:Nipbl
|
UTSW |
15 |
8,332,904 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8854:Nipbl
|
UTSW |
15 |
8,330,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Nipbl
|
UTSW |
15 |
8,391,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8942:Nipbl
|
UTSW |
15 |
8,381,104 (GRCm39) |
missense |
probably benign |
|
|
R8991:Nipbl
|
UTSW |
15 |
8,320,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9008:Nipbl
|
UTSW |
15 |
8,356,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9070:Nipbl
|
UTSW |
15 |
8,368,215 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9116:Nipbl
|
UTSW |
15 |
8,380,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9622:Nipbl
|
UTSW |
15 |
8,366,373 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9778:Nipbl
|
UTSW |
15 |
8,321,032 (GRCm39) |
missense |
probably benign |
0.10 |
|
RF020:Nipbl
|
UTSW |
15 |
8,388,418 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0022:Nipbl
|
UTSW |
15 |
8,381,199 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0027:Nipbl
|
UTSW |
15 |
8,353,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Nipbl
|
UTSW |
15 |
8,337,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Nipbl
|
UTSW |
15 |
8,368,183 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1177:Nipbl
|
UTSW |
15 |
8,368,164 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Nipbl
|
UTSW |
15 |
8,366,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGCGCTCCCTTTCAATGG -3'
(R):5'- TTAGCTCTCCAACCAAGGACTC -3'
Sequencing Primer
(F):5'- TGCCAACGCGTCCAATTCG -3'
(R):5'- GGACTCCACTAAACTTACATTAAGAC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation