Incidental Mutation 'R8887:Nipbl'
| ID |
677435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nipbl
|
| Ensembl Gene |
ENSMUSG00000022141 |
| Gene Name |
NIPBL cohesin loading factor |
| Synonyms |
4933421G18Rik, 4921518A06Rik |
| MMRRC Submission |
068752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R8887 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
8320101-8473947 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 8391271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 234
(H234Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052965]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052965
AA Change: H234Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059385
Gene: ENSMUSG00000022141
AA Change: H234Q
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
98% (93/95) |
| 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 |
|---|
| Acsbg2 |
T |
C |
17: 57,175,285 (GRCm39) |
T76A |
probably benign |
Het |
| Actn1 |
A |
G |
12: 80,215,197 (GRCm39) |
C860R |
probably damaging |
Het |
| Adam23 |
T |
A |
1: 63,554,744 (GRCm39) |
L170Q |
probably damaging |
Het |
| Afdn |
C |
T |
17: 14,116,401 (GRCm39) |
R1620* |
probably null |
Het |
| Agfg1 |
A |
G |
1: 82,848,525 (GRCm39) |
|
probably benign |
Het |
| Aire |
A |
G |
10: 77,870,298 (GRCm39) |
S476P |
probably damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,247,401 (GRCm39) |
T162A |
probably benign |
Het |
| Atp1a2 |
T |
C |
1: 172,113,222 (GRCm39) |
Q487R |
probably null |
Het |
| BC048507 |
T |
A |
13: 68,011,628 (GRCm39) |
C2S |
probably benign |
Het |
| Bltp1 |
G |
T |
3: 37,087,503 (GRCm39) |
A615S |
possibly damaging |
Het |
| Bnc2 |
A |
C |
4: 84,209,707 (GRCm39) |
|
probably benign |
Het |
| Bop1 |
C |
T |
15: 76,338,524 (GRCm39) |
G473R |
probably damaging |
Het |
| C1galt1 |
A |
G |
6: 7,866,379 (GRCm39) |
E75G |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,258,894 (GRCm39) |
V1201A |
possibly damaging |
Het |
| Cecr2 |
C |
A |
6: 120,715,162 (GRCm39) |
T249K |
probably damaging |
Het |
| Clca3a2 |
C |
A |
3: 144,790,810 (GRCm39) |
G421* |
probably null |
Het |
| Clec1b |
A |
T |
6: 129,378,703 (GRCm39) |
|
probably null |
Het |
| Cnksr3 |
C |
T |
10: 7,104,467 (GRCm39) |
D79N |
probably damaging |
Het |
| Col15a1 |
A |
G |
4: 47,287,091 (GRCm39) |
Q843R |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,755,948 (GRCm39) |
S114G |
probably benign |
Het |
| Corin |
A |
T |
5: 72,486,953 (GRCm39) |
|
probably null |
Het |
| Cyp2u1 |
A |
G |
3: 131,096,503 (GRCm39) |
Y92H |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,229,270 (GRCm39) |
L51P |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,673,989 (GRCm39) |
|
probably benign |
Het |
| Dlc1 |
A |
T |
8: 37,051,481 (GRCm39) |
V299E |
probably benign |
Het |
| Dlgap2 |
G |
A |
8: 14,229,682 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
A |
G |
14: 31,032,997 (GRCm39) |
L346P |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,746,210 (GRCm39) |
T3968A |
probably benign |
Het |
| Duox2 |
A |
C |
2: 122,120,044 (GRCm39) |
M822R |
probably null |
Het |
| E2f7 |
A |
T |
10: 110,610,674 (GRCm39) |
Q433L |
probably benign |
Het |
| Eif3k |
A |
C |
7: 28,679,901 (GRCm39) |
Y42* |
probably null |
Het |
| Elmod3 |
A |
G |
6: 72,563,494 (GRCm39) |
S45P |
probably damaging |
Het |
| Emilin3 |
C |
A |
2: 160,751,108 (GRCm39) |
V214F |
possibly damaging |
Het |
| Fbxo10 |
A |
T |
4: 45,058,887 (GRCm39) |
F283L |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,876,549 (GRCm39) |
Y358H |
|
Het |
| G430095P16Rik |
A |
G |
8: 85,453,043 (GRCm39) |
N10S |
unknown |
Het |
| Gldc |
A |
G |
19: 30,111,156 (GRCm39) |
V540A |
possibly damaging |
Het |
| Gm3667 |
T |
A |
14: 18,271,553 (GRCm39) |
E67D |
probably benign |
Het |
| Golga3 |
T |
A |
5: 110,353,626 (GRCm39) |
|
probably benign |
Het |
| H60c |
T |
C |
10: 3,217,255 (GRCm39) |
E38G |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,433,541 (GRCm39) |
D952G |
probably benign |
Het |
| Hoxb8 |
T |
A |
11: 96,175,223 (GRCm39) |
L220Q |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,751,050 (GRCm39) |
L1679M |
probably damaging |
Het |
| Ifi202b |
T |
A |
1: 173,802,480 (GRCm39) |
Y118F |
probably damaging |
Het |
| Ift122 |
A |
T |
6: 115,868,880 (GRCm39) |
T456S |
probably benign |
Het |
| Ighg3 |
G |
A |
12: 113,323,845 (GRCm39) |
T181I |
|
Het |
| Ighv1-66 |
C |
A |
12: 115,557,032 (GRCm39) |
V17F |
probably damaging |
Het |
| Ighv5-12-4 |
A |
G |
12: 113,726,130 (GRCm39) |
V31A |
possibly damaging |
Het |
| Ints12 |
T |
A |
3: 132,815,003 (GRCm39) |
N403K |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
A |
C |
16: 34,047,496 (GRCm39) |
N908K |
probably benign |
Het |
| Kctd9 |
G |
A |
14: 67,962,016 (GRCm39) |
V20I |
unknown |
Het |
| Krt78 |
G |
T |
15: 101,861,746 (GRCm39) |
L167M |
probably damaging |
Het |
| Ldb1 |
T |
C |
19: 46,023,294 (GRCm39) |
E206G |
probably damaging |
Het |
| Lig1 |
A |
G |
7: 13,030,713 (GRCm39) |
Y455C |
probably damaging |
Het |
| Ltbp1 |
T |
G |
17: 75,486,077 (GRCm39) |
I34S |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,454,758 (GRCm39) |
I1216T |
possibly damaging |
Het |
| Mex3c |
T |
C |
18: 73,706,800 (GRCm39) |
V229A |
probably damaging |
Het |
| Mfsd11 |
T |
C |
11: 116,745,526 (GRCm39) |
|
probably null |
Het |
| Mroh1 |
A |
G |
15: 76,331,474 (GRCm39) |
T1233A |
probably benign |
Het |
| Myct1 |
C |
T |
10: 5,554,208 (GRCm39) |
T25I |
probably damaging |
Het |
| Npc1l1 |
G |
A |
11: 6,175,665 (GRCm39) |
P549S |
probably damaging |
Het |
| Or12d2 |
A |
T |
17: 37,624,642 (GRCm39) |
L211Q |
probably damaging |
Het |
| Or4c3 |
A |
G |
2: 89,852,269 (GRCm39) |
V47A |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,894,846 (GRCm39) |
V199D |
possibly damaging |
Het |
| Or5w22 |
A |
G |
2: 87,363,187 (GRCm39) |
D270G |
possibly damaging |
Het |
| Or6c3b |
A |
T |
10: 129,527,372 (GRCm39) |
Y179* |
probably null |
Het |
| Padi3 |
A |
T |
4: 140,523,795 (GRCm39) |
C228* |
probably null |
Het |
| Palld |
T |
A |
8: 61,986,512 (GRCm39) |
D1015V |
unknown |
Het |
| Pcna-ps2 |
A |
T |
19: 9,261,488 (GRCm39) |
Y249F |
probably benign |
Het |
| Pelo |
C |
T |
13: 115,225,451 (GRCm39) |
C258Y |
probably benign |
Het |
| Ppp1r13b |
A |
T |
12: 111,803,430 (GRCm39) |
|
probably benign |
Het |
| Pramel26 |
A |
G |
4: 143,539,257 (GRCm39) |
F79L |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,860,771 (GRCm39) |
W840R |
probably damaging |
Het |
| Prkcg |
A |
G |
7: 3,370,857 (GRCm39) |
D428G |
possibly damaging |
Het |
| Pus7 |
G |
A |
5: 23,948,476 (GRCm39) |
R571* |
probably null |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,927 (GRCm39) |
C409R |
possibly damaging |
Het |
| Rdh13 |
T |
C |
7: 4,434,522 (GRCm39) |
D186G |
probably damaging |
Het |
| Rslcan18 |
T |
A |
13: 67,246,793 (GRCm39) |
H273L |
probably damaging |
Het |
| Rxfp1 |
T |
A |
3: 79,559,289 (GRCm39) |
|
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,788,540 (GRCm39) |
|
probably null |
Het |
| Siglecg |
T |
A |
7: 43,058,008 (GRCm39) |
S9T |
probably benign |
Het |
| Slc9a1 |
T |
C |
4: 133,139,258 (GRCm39) |
F159L |
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,758,009 (GRCm39) |
I183V |
probably benign |
Het |
| St6galnac4 |
A |
G |
2: 32,484,110 (GRCm39) |
M103V |
probably damaging |
Het |
| Tbc1d30 |
T |
C |
10: 121,187,059 (GRCm39) |
D42G |
possibly damaging |
Het |
| Tlr5 |
C |
A |
1: 182,801,332 (GRCm39) |
T212K |
probably benign |
Het |
| Trim43b |
T |
G |
9: 88,969,642 (GRCm39) |
I269L |
probably benign |
Het |
| Ttll6 |
T |
C |
11: 96,047,492 (GRCm39) |
L697P |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,549,239 (GRCm39) |
T31813P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,571,932 (GRCm39) |
D26320E |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,307,061 (GRCm39) |
|
probably null |
Het |
| Usp1 |
C |
G |
4: 98,819,185 (GRCm39) |
Q216E |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,853,026 (GRCm39) |
T645A |
probably benign |
Het |
| Wdr64 |
C |
A |
1: 175,599,850 (GRCm39) |
P559H |
probably benign |
Het |
| Zfat |
T |
C |
15: 68,056,315 (GRCm39) |
Y247C |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,219 (GRCm39) |
N163K |
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 |
|
|
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 |
|
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'- AGGAGATGTGGTGTTCATACC -3'
(R):5'- TGACATCCATCACAGTATCGGG -3'
Sequencing Primer
(F):5'- AGATGTGGTGTTCATACCTAGATTC -3'
(R):5'- GACATCCATCACAGTATCGGGATTTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation