Incidental Mutation 'IGL03263:Nckap1l'
| ID |
414944 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nckap1l
|
| Ensembl Gene |
ENSMUSG00000022488 |
| Gene Name |
NCK associated protein 1 like |
| Synonyms |
Hem1, 4930568P13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.852)
|
| Stock # |
IGL03263
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
103362221-103407237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103372832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 259
(W259R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047405]
[ENSMUST00000229127]
|
| AlphaFold |
Q8K1X4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047405
AA Change: W259R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: W259R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nckap1
|
7 |
1123 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229127
AA Change: W259R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229468
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit anemia, lymphopenia, neutrophilia and tissue-specific pathology, defective neutrophil migration, phagocytosis and F-actin polymerization, abnormal B and T cell development, impaired T cell activation and adhesion, and enhanced IL-17 production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
A |
5: 138,562,499 (GRCm39) |
I81F |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,351,754 (GRCm39) |
H1164Y |
probably damaging |
Het |
| Adamts5 |
A |
T |
16: 85,666,830 (GRCm39) |
V554E |
probably damaging |
Het |
| Asns |
G |
A |
6: 7,689,404 (GRCm39) |
R33C |
probably benign |
Het |
| BC051076 |
T |
G |
5: 88,111,977 (GRCm39) |
|
noncoding transcript |
Het |
| Bcas3 |
C |
T |
11: 85,712,948 (GRCm39) |
|
probably benign |
Het |
| Bpifb1 |
A |
G |
2: 154,057,226 (GRCm39) |
M395V |
probably benign |
Het |
| Cdcp1 |
C |
A |
9: 123,009,152 (GRCm39) |
V509L |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,865,926 (GRCm39) |
T277A |
possibly damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Clca4a |
T |
A |
3: 144,672,192 (GRCm39) |
E250V |
probably damaging |
Het |
| Cplx4 |
T |
C |
18: 66,100,559 (GRCm39) |
D79G |
probably benign |
Het |
| Dcaf11 |
A |
G |
14: 55,802,949 (GRCm39) |
D246G |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,420,207 (GRCm39) |
|
probably null |
Het |
| Dock3 |
A |
T |
9: 106,807,330 (GRCm39) |
|
probably benign |
Het |
| Fam170a |
T |
C |
18: 50,413,588 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
T |
A |
7: 129,782,149 (GRCm39) |
M423L |
probably benign |
Het |
| Gabra2 |
A |
G |
5: 71,130,836 (GRCm39) |
F331L |
probably damaging |
Het |
| Galnt18 |
C |
T |
7: 111,119,321 (GRCm39) |
R400Q |
probably damaging |
Het |
| H2-M11 |
A |
T |
17: 36,859,805 (GRCm39) |
Q266L |
probably damaging |
Het |
| Igf2bp1 |
A |
T |
11: 95,857,499 (GRCm39) |
V502D |
probably damaging |
Het |
| Ik |
A |
G |
18: 36,881,699 (GRCm39) |
N111S |
probably damaging |
Het |
| Intu |
T |
A |
3: 40,627,027 (GRCm39) |
Y269* |
probably null |
Het |
| Krt82 |
T |
C |
15: 101,450,307 (GRCm39) |
Y463C |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,588,628 (GRCm39) |
M507T |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,504,525 (GRCm39) |
V2481A |
possibly damaging |
Het |
| Mag |
T |
G |
7: 30,598,953 (GRCm39) |
|
probably null |
Het |
| Map7 |
T |
A |
10: 20,121,068 (GRCm39) |
Y121* |
probably null |
Het |
| Marchf6 |
A |
G |
15: 31,486,508 (GRCm39) |
I349T |
probably benign |
Het |
| Mas1 |
A |
G |
17: 13,060,451 (GRCm39) |
V324A |
possibly damaging |
Het |
| Nhsl1 |
T |
A |
10: 18,373,827 (GRCm39) |
Y164* |
probably null |
Het |
| Or52e5 |
T |
A |
7: 104,719,209 (GRCm39) |
H178Q |
probably damaging |
Het |
| Or8b38 |
A |
T |
9: 37,973,009 (GRCm39) |
Y131F |
probably damaging |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,059 (GRCm39) |
D344G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,731,824 (GRCm39) |
V3442A |
unknown |
Het |
| Polr3c |
C |
T |
3: 96,621,567 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2d |
C |
T |
7: 138,474,651 (GRCm39) |
R11* |
probably null |
Het |
| Ptgfr |
T |
A |
3: 151,541,500 (GRCm39) |
M3L |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,601,903 (GRCm39) |
S741G |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,980,273 (GRCm39) |
V490A |
probably damaging |
Het |
| Samd7 |
T |
A |
3: 30,816,302 (GRCm39) |
H349Q |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,302,482 (GRCm39) |
N199S |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,667,305 (GRCm39) |
K794N |
possibly damaging |
Het |
| Spta1 |
C |
T |
1: 174,041,484 (GRCm39) |
A1316V |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,240,575 (GRCm39) |
E410G |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,215,084 (GRCm39) |
|
probably benign |
Het |
| Wdr72 |
A |
C |
9: 74,064,711 (GRCm39) |
Y581S |
probably damaging |
Het |
| Zdhhc17 |
T |
C |
10: 110,796,877 (GRCm39) |
D298G |
probably damaging |
Het |
|
| Other mutations in Nckap1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Nckap1l
|
APN |
15 |
103,371,147 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL01818:Nckap1l
|
APN |
15 |
103,386,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01912:Nckap1l
|
APN |
15 |
103,382,573 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01945:Nckap1l
|
APN |
15 |
103,370,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01947:Nckap1l
|
APN |
15 |
103,399,442 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02218:Nckap1l
|
APN |
15 |
103,391,954 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02317:Nckap1l
|
APN |
15 |
103,370,005 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02376:Nckap1l
|
APN |
15 |
103,379,658 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
hem-haw
|
UTSW |
15 |
103,379,659 (GRCm39) |
nonsense |
probably null |
|
|
Sinstral
|
UTSW |
15 |
103,392,040 (GRCm39) |
missense |
probably benign |
|
|
stammer
|
UTSW |
15 |
103,382,248 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
stutter
|
UTSW |
15 |
103,384,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
tentative
|
UTSW |
15 |
103,382,586 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02802:Nckap1l
|
UTSW |
15 |
103,372,963 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0016:Nckap1l
|
UTSW |
15 |
103,384,063 (GRCm39) |
missense |
probably benign |
|
|
R0016:Nckap1l
|
UTSW |
15 |
103,384,063 (GRCm39) |
missense |
probably benign |
|
|
R0114:Nckap1l
|
UTSW |
15 |
103,363,455 (GRCm39) |
missense |
probably benign |
|
|
R0137:Nckap1l
|
UTSW |
15 |
103,390,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0375:Nckap1l
|
UTSW |
15 |
103,382,586 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0390:Nckap1l
|
UTSW |
15 |
103,362,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0412:Nckap1l
|
UTSW |
15 |
103,373,079 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0467:Nckap1l
|
UTSW |
15 |
103,405,854 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1245:Nckap1l
|
UTSW |
15 |
103,364,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1592:Nckap1l
|
UTSW |
15 |
103,390,607 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1593:Nckap1l
|
UTSW |
15 |
103,387,281 (GRCm39) |
missense |
probably null |
0.00 |
|
R1879:Nckap1l
|
UTSW |
15 |
103,373,028 (GRCm39) |
missense |
probably benign |
|
|
R2081:Nckap1l
|
UTSW |
15 |
103,405,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2144:Nckap1l
|
UTSW |
15 |
103,384,103 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2228:Nckap1l
|
UTSW |
15 |
103,364,361 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2229:Nckap1l
|
UTSW |
15 |
103,364,361 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2411:Nckap1l
|
UTSW |
15 |
103,391,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3965:Nckap1l
|
UTSW |
15 |
103,373,016 (GRCm39) |
nonsense |
probably null |
|
|
R3971:Nckap1l
|
UTSW |
15 |
103,370,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4270:Nckap1l
|
UTSW |
15 |
103,381,549 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4348:Nckap1l
|
UTSW |
15 |
103,395,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4351:Nckap1l
|
UTSW |
15 |
103,395,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4748:Nckap1l
|
UTSW |
15 |
103,381,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Nckap1l
|
UTSW |
15 |
103,392,040 (GRCm39) |
missense |
probably benign |
|
|
R5230:Nckap1l
|
UTSW |
15 |
103,392,066 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5595:Nckap1l
|
UTSW |
15 |
103,384,085 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5642:Nckap1l
|
UTSW |
15 |
103,363,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5701:Nckap1l
|
UTSW |
15 |
103,381,195 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6000:Nckap1l
|
UTSW |
15 |
103,387,242 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6229:Nckap1l
|
UTSW |
15 |
103,381,549 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6367:Nckap1l
|
UTSW |
15 |
103,384,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6420:Nckap1l
|
UTSW |
15 |
103,399,893 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6440:Nckap1l
|
UTSW |
15 |
103,379,659 (GRCm39) |
nonsense |
probably null |
|
|
R6957:Nckap1l
|
UTSW |
15 |
103,399,938 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7023:Nckap1l
|
UTSW |
15 |
103,384,493 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7083:Nckap1l
|
UTSW |
15 |
103,390,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7360:Nckap1l
|
UTSW |
15 |
103,384,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7361:Nckap1l
|
UTSW |
15 |
103,379,709 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7457:Nckap1l
|
UTSW |
15 |
103,362,233 (GRCm39) |
start gained |
probably benign |
|
|
R7582:Nckap1l
|
UTSW |
15 |
103,390,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7662:Nckap1l
|
UTSW |
15 |
103,371,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7699:Nckap1l
|
UTSW |
15 |
103,371,248 (GRCm39) |
splice site |
probably null |
|
|
R7951:Nckap1l
|
UTSW |
15 |
103,381,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8059:Nckap1l
|
UTSW |
15 |
103,401,714 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8124:Nckap1l
|
UTSW |
15 |
103,382,248 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8152:Nckap1l
|
UTSW |
15 |
103,386,957 (GRCm39) |
splice site |
probably null |
|
|
R8829:Nckap1l
|
UTSW |
15 |
103,387,242 (GRCm39) |
missense |
probably benign |
|
|
R8832:Nckap1l
|
UTSW |
15 |
103,387,242 (GRCm39) |
missense |
probably benign |
|
|
R9294:Nckap1l
|
UTSW |
15 |
103,381,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9338:Nckap1l
|
UTSW |
15 |
103,379,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9668:Nckap1l
|
UTSW |
15 |
103,382,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation