Incidental Mutation 'R1835:Nipbl'
| ID |
205216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nipbl
|
| Ensembl Gene |
ENSMUSG00000022141 |
| Gene Name |
NIPBL cohesin loading factor |
| Synonyms |
4933421G18Rik, 4921518A06Rik |
| MMRRC Submission |
039862-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R1835 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
8320101-8473947 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8373001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1082
(I1082F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052965]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052965
AA Change: I1082F
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000059385
Gene: ENSMUSG00000022141
AA Change: I1082F
| 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 |
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.0%
|
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,400,550 (GRCm39) |
Y530N |
probably damaging |
Het |
| Adam4 |
T |
C |
12: 81,466,333 (GRCm39) |
I763V |
probably benign |
Het |
| Aipl1 |
T |
G |
11: 71,921,325 (GRCm39) |
K190T |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,655,485 (GRCm39) |
S3344T |
possibly damaging |
Het |
| Alpi |
A |
G |
1: 87,027,136 (GRCm39) |
V381A |
possibly damaging |
Het |
| Ankfn1 |
A |
T |
11: 89,338,444 (GRCm39) |
S365R |
probably benign |
Het |
| Aox1 |
G |
A |
1: 58,348,150 (GRCm39) |
A623T |
probably benign |
Het |
| Apc |
T |
A |
18: 34,450,130 (GRCm39) |
L2308Q |
probably damaging |
Het |
| Atp9b |
C |
T |
18: 80,822,098 (GRCm39) |
V501I |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,732,163 (GRCm39) |
E1994G |
probably benign |
Het |
| Bltp2 |
G |
T |
11: 78,178,576 (GRCm39) |
V1993F |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,307,986 (GRCm39) |
|
probably null |
Het |
| Cacna1h |
C |
A |
17: 25,611,050 (GRCm39) |
V583L |
probably benign |
Het |
| Cd55 |
T |
C |
1: 130,375,346 (GRCm39) |
|
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,937,494 (GRCm39) |
S75T |
possibly damaging |
Het |
| Cfap54 |
T |
A |
10: 92,798,237 (GRCm39) |
D1674V |
probably benign |
Het |
| Churc1 |
T |
C |
12: 76,820,071 (GRCm39) |
F27L |
possibly damaging |
Het |
| Coro1c |
A |
G |
5: 113,986,604 (GRCm39) |
I280T |
probably benign |
Het |
| Creb1 |
C |
T |
1: 64,590,109 (GRCm39) |
Q32* |
probably null |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,208 (GRCm39) |
T339A |
probably benign |
Het |
| Dctn3 |
T |
C |
4: 41,720,813 (GRCm39) |
R51G |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,603,957 (GRCm39) |
V888A |
probably damaging |
Het |
| Disp1 |
A |
G |
1: 182,870,564 (GRCm39) |
Y619H |
probably damaging |
Het |
| Dnajc9 |
T |
C |
14: 20,438,402 (GRCm39) |
D96G |
possibly damaging |
Het |
| Eepd1 |
A |
G |
9: 25,394,164 (GRCm39) |
T143A |
possibly damaging |
Het |
| Eps8 |
T |
A |
6: 137,499,277 (GRCm39) |
K204* |
probably null |
Het |
| Ercc5 |
T |
A |
1: 44,220,035 (GRCm39) |
S1102R |
probably benign |
Het |
| Ergic2 |
T |
A |
6: 148,091,079 (GRCm39) |
Y211F |
possibly damaging |
Het |
| Fam135b |
G |
T |
15: 71,362,560 (GRCm39) |
L274M |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,384 (GRCm39) |
T2206I |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,037,720 (GRCm39) |
I3791V |
probably benign |
Het |
| Gemin4 |
A |
G |
11: 76,104,122 (GRCm39) |
M213T |
possibly damaging |
Het |
| Gnai3 |
T |
C |
3: 108,025,723 (GRCm39) |
M119V |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,080,992 (GRCm39) |
L1420Q |
probably damaging |
Het |
| Herc2 |
G |
T |
7: 55,856,513 (GRCm39) |
G3918* |
probably null |
Het |
| Ints9 |
A |
G |
14: 65,269,705 (GRCm39) |
Y465C |
probably damaging |
Het |
| Ist1 |
A |
G |
8: 110,405,515 (GRCm39) |
V175A |
probably damaging |
Het |
| Kcnj12 |
T |
C |
11: 60,960,383 (GRCm39) |
L227P |
possibly damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,536,611 (GRCm39) |
S416G |
probably benign |
Het |
| Kdm3a |
T |
A |
6: 71,590,940 (GRCm39) |
T295S |
probably benign |
Het |
| Kif1c |
T |
A |
11: 70,599,797 (GRCm39) |
M479K |
probably damaging |
Het |
| Kif20b |
T |
C |
19: 34,933,438 (GRCm39) |
L83P |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,507,624 (GRCm39) |
E1194G |
probably damaging |
Het |
| Llgl1 |
A |
G |
11: 60,595,556 (GRCm39) |
M81V |
probably benign |
Het |
| Map4k5 |
C |
A |
12: 69,871,436 (GRCm39) |
M495I |
probably damaging |
Het |
| Mest |
C |
T |
6: 30,742,790 (GRCm39) |
R146C |
probably benign |
Het |
| Mettl24 |
T |
A |
10: 40,613,812 (GRCm39) |
|
probably null |
Het |
| Mical1 |
T |
C |
10: 41,359,531 (GRCm39) |
S586P |
probably benign |
Het |
| Mrgpra3 |
G |
T |
7: 47,239,694 (GRCm39) |
Y77* |
probably null |
Het |
| Mss51 |
A |
T |
14: 20,533,246 (GRCm39) |
C408* |
probably null |
Het |
| Myh6 |
T |
C |
14: 55,194,858 (GRCm39) |
T666A |
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,805,673 (GRCm39) |
C1685R |
possibly damaging |
Het |
| Naip5 |
A |
T |
13: 100,359,726 (GRCm39) |
Y503* |
probably null |
Het |
| Neil1 |
A |
C |
9: 57,053,888 (GRCm39) |
F144C |
probably damaging |
Het |
| Nkiras1 |
T |
C |
14: 18,276,732 (GRCm38) |
V7A |
probably damaging |
Het |
| Nt5el |
C |
A |
13: 105,218,702 (GRCm39) |
A12E |
unknown |
Het |
| Ntng2 |
G |
A |
2: 29,087,069 (GRCm39) |
Q384* |
probably null |
Het |
| Ocrl |
T |
A |
X: 47,050,993 (GRCm39) |
I74N |
probably damaging |
Het |
| Or10j27 |
A |
G |
1: 172,958,382 (GRCm39) |
V134A |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,072,622 (GRCm39) |
S24G |
probably benign |
Het |
| Or14j8 |
C |
T |
17: 38,263,276 (GRCm39) |
G213E |
possibly damaging |
Het |
| Or1e22 |
A |
C |
11: 73,377,200 (GRCm39) |
V150G |
probably benign |
Het |
| Or2j3 |
A |
T |
17: 38,616,203 (GRCm39) |
S50T |
probably benign |
Het |
| Or2y1 |
A |
T |
11: 49,385,497 (GRCm39) |
I46F |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,379,827 (GRCm39) |
D151G |
probably benign |
Het |
| Plpbp |
T |
C |
8: 27,539,259 (GRCm39) |
V126A |
probably damaging |
Het |
| Pold2 |
A |
G |
11: 5,823,454 (GRCm39) |
L325P |
possibly damaging |
Het |
| Ppp1r12c |
A |
C |
7: 4,486,650 (GRCm39) |
S480A |
probably damaging |
Het |
| Pum1 |
T |
C |
4: 130,428,359 (GRCm39) |
S124P |
possibly damaging |
Het |
| Pwp2 |
C |
G |
10: 78,014,925 (GRCm39) |
G353A |
probably damaging |
Het |
| Reln |
C |
A |
5: 22,184,000 (GRCm39) |
Q1666H |
probably damaging |
Het |
| Rnf19a |
T |
C |
15: 36,266,071 (GRCm39) |
I9V |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,784,764 (GRCm39) |
H1063R |
probably benign |
Het |
| Samd14 |
C |
G |
11: 94,914,426 (GRCm39) |
D361E |
probably damaging |
Het |
| Samd15 |
A |
T |
12: 87,248,617 (GRCm39) |
N365I |
probably damaging |
Het |
| Sec16b |
A |
G |
1: 157,358,882 (GRCm39) |
H105R |
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,844,329 (GRCm39) |
S51P |
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,789,350 (GRCm39) |
L236Q |
probably damaging |
Het |
| Sspo |
C |
T |
6: 48,434,274 (GRCm39) |
T991I |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,687,069 (GRCm39) |
L97* |
probably null |
Het |
| Tab1 |
C |
A |
15: 80,032,497 (GRCm39) |
R35S |
probably benign |
Het |
| Tet3 |
C |
A |
6: 83,381,145 (GRCm39) |
S341I |
possibly damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,043 (GRCm39) |
D511E |
probably benign |
Het |
| Tmem132b |
A |
C |
5: 125,862,963 (GRCm39) |
D656A |
probably damaging |
Het |
| Tmtc4 |
T |
A |
14: 123,179,400 (GRCm39) |
|
probably null |
Het |
| Trmo |
T |
C |
4: 46,380,158 (GRCm39) |
T404A |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,880,016 (GRCm39) |
K790E |
probably damaging |
Het |
| Ulk4 |
C |
A |
9: 120,997,250 (GRCm39) |
R774M |
probably null |
Het |
| Ush2a |
C |
T |
1: 188,184,015 (GRCm39) |
L1440F |
probably benign |
Het |
| Usp16 |
A |
G |
16: 87,277,795 (GRCm39) |
K682E |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,540,511 (GRCm39) |
S1471P |
probably benign |
Het |
| Vmn1r177 |
A |
T |
7: 23,565,111 (GRCm39) |
I255N |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,916,076 (GRCm39) |
R230* |
probably null |
Het |
| Vps13c |
T |
A |
9: 67,900,295 (GRCm39) |
F3671L |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,231,189 (GRCm39) |
N358S |
possibly damaging |
Het |
| Wdr72 |
A |
G |
9: 74,058,899 (GRCm39) |
K331E |
probably damaging |
Het |
| Zfp986 |
A |
T |
4: 145,625,805 (GRCm39) |
K155I |
probably benign |
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 |
|
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 |
|
|
R5644: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'- TGGTGCCAAGTGAACTCATC -3'
(R):5'- CAAGATGCCTGTATCATTAATCTCG -3'
Sequencing Primer
(F):5'- GCCAAGTGAACTCATCTTTCATACAG -3'
(R):5'- CTGCTACTTTGGTTAAAGTTTT -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation