Incidental Mutation 'IGL01548:Nckap1l'
| ID |
93219 |
| 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 # |
IGL01548
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
103362221-103407237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103371147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 213
(V213D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047405]
[ENSMUST00000229127]
|
| AlphaFold |
Q8K1X4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047405
AA Change: V213D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: V213D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nckap1
|
7 |
1123 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229127
AA Change: V213D
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot3 |
C |
T |
12: 84,103,863 (GRCm39) |
T224I |
probably benign |
Het |
| Adamts18 |
C |
T |
8: 114,490,931 (GRCm39) |
G512E |
probably damaging |
Het |
| Atp4b |
A |
G |
8: 13,439,679 (GRCm39) |
I181T |
probably damaging |
Het |
| Bcl11a |
A |
G |
11: 24,113,346 (GRCm39) |
I230V |
probably benign |
Het |
| Cenpj |
C |
A |
14: 56,769,776 (GRCm39) |
V1138L |
probably benign |
Het |
| Cep78 |
A |
G |
19: 15,958,564 (GRCm39) |
|
probably benign |
Het |
| Clec2j |
T |
A |
6: 128,632,941 (GRCm39) |
|
noncoding transcript |
Het |
| Col5a3 |
T |
C |
9: 20,714,296 (GRCm39) |
|
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,750,183 (GRCm39) |
T105S |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,338,660 (GRCm39) |
Y482* |
probably null |
Het |
| Ctrl |
C |
A |
8: 106,659,890 (GRCm39) |
|
probably benign |
Het |
| Dhcr24 |
T |
A |
4: 106,431,068 (GRCm39) |
C252* |
probably null |
Het |
| Dnaaf9 |
T |
C |
2: 130,656,179 (GRCm39) |
N110D |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 117,989,438 (GRCm39) |
P1261S |
probably benign |
Het |
| Dnai2 |
T |
C |
11: 114,643,768 (GRCm39) |
L466P |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,071,922 (GRCm39) |
F3036Y |
probably damaging |
Het |
| Eef1akmt2 |
A |
C |
7: 132,433,134 (GRCm39) |
S191A |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 39,063,406 (GRCm39) |
C4454Y |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,941,907 (GRCm39) |
S267P |
probably damaging |
Het |
| Frrs1 |
T |
C |
3: 116,678,834 (GRCm39) |
C219R |
probably damaging |
Het |
| Gabra6 |
T |
A |
11: 42,207,850 (GRCm39) |
Q207L |
probably damaging |
Het |
| Gm19668 |
A |
T |
10: 77,634,242 (GRCm39) |
C242* |
probably null |
Het |
| Gm2840 |
G |
A |
5: 96,322,136 (GRCm39) |
|
noncoding transcript |
Het |
| Gmcl1p1 |
G |
A |
X: 3,078,226 (GRCm39) |
G423S |
probably benign |
Het |
| Golim4 |
C |
T |
3: 75,815,432 (GRCm39) |
|
probably null |
Het |
| Gucy1b1 |
G |
T |
3: 81,942,169 (GRCm39) |
T530K |
probably damaging |
Het |
| Hacl1 |
A |
T |
14: 31,362,553 (GRCm39) |
D31E |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,502,723 (GRCm39) |
T4276A |
possibly damaging |
Het |
| Henmt1 |
T |
C |
3: 108,850,095 (GRCm39) |
I26T |
probably damaging |
Het |
| Hspa1l |
G |
A |
17: 35,197,367 (GRCm39) |
A469T |
probably damaging |
Het |
| Htra3 |
T |
A |
5: 35,821,420 (GRCm39) |
|
probably null |
Het |
| Lrrc28 |
C |
A |
7: 67,278,042 (GRCm39) |
|
probably null |
Het |
| Mfhas1 |
T |
C |
8: 36,057,613 (GRCm39) |
L696P |
probably damaging |
Het |
| Mios |
A |
G |
6: 8,234,252 (GRCm39) |
K808E |
possibly damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,774,496 (GRCm39) |
Y188H |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,408,215 (GRCm39) |
|
probably benign |
Het |
| Naca |
A |
T |
10: 127,876,773 (GRCm39) |
|
probably benign |
Het |
| Ndufa6 |
C |
T |
15: 82,238,282 (GRCm39) |
V50M |
possibly damaging |
Het |
| Or4c35 |
T |
A |
2: 89,808,883 (GRCm39) |
F254I |
possibly damaging |
Het |
| Or5b111 |
A |
G |
19: 13,291,350 (GRCm39) |
F100L |
possibly damaging |
Het |
| Or5g23 |
A |
G |
2: 85,439,105 (GRCm39) |
W50R |
probably benign |
Het |
| Or8b56 |
A |
G |
9: 38,739,646 (GRCm39) |
T220A |
probably benign |
Het |
| Or8k53 |
T |
A |
2: 86,178,077 (GRCm39) |
Y11F |
possibly damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,896,632 (GRCm39) |
Y311C |
probably damaging |
Het |
| Parp11 |
A |
C |
6: 127,468,562 (GRCm39) |
Y204S |
probably damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,808,407 (GRCm39) |
|
probably null |
Het |
| Plec |
T |
C |
15: 76,073,458 (GRCm39) |
R519G |
probably benign |
Het |
| Ppp2r5c |
T |
A |
12: 110,534,261 (GRCm39) |
Y375N |
probably benign |
Het |
| Prss35 |
C |
A |
9: 86,637,327 (GRCm39) |
S32R |
probably benign |
Het |
| Prss57 |
C |
T |
10: 79,621,581 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
A |
C |
1: 138,027,219 (GRCm39) |
|
probably null |
Het |
| Rims1 |
A |
G |
1: 22,577,683 (GRCm39) |
C188R |
probably damaging |
Het |
| Ripk4 |
G |
T |
16: 97,552,696 (GRCm39) |
Y144* |
probably null |
Het |
| Rpgrip1 |
A |
T |
14: 52,363,728 (GRCm39) |
|
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,809,691 (GRCm39) |
V378A |
probably benign |
Het |
| Rtf1 |
A |
G |
2: 119,542,589 (GRCm39) |
K298E |
probably benign |
Het |
| Sdk1 |
T |
C |
5: 142,071,520 (GRCm39) |
F1237L |
possibly damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,948,652 (GRCm39) |
K543E |
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,938,238 (GRCm39) |
I227T |
possibly damaging |
Het |
| Sorcs3 |
A |
T |
19: 48,782,607 (GRCm39) |
I1041F |
possibly damaging |
Het |
| Spata31e4 |
A |
G |
13: 50,854,414 (GRCm39) |
T91A |
probably benign |
Het |
| Spata31f3 |
T |
C |
4: 42,868,564 (GRCm39) |
E353G |
probably benign |
Het |
| Taok3 |
T |
C |
5: 117,410,262 (GRCm39) |
M818T |
probably benign |
Het |
| Tas2r119 |
T |
A |
15: 32,178,123 (GRCm39) |
F230I |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,420,385 (GRCm39) |
D716G |
probably damaging |
Het |
| Tfg |
A |
G |
16: 56,521,465 (GRCm39) |
S58P |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,217,943 (GRCm39) |
I45V |
probably damaging |
Het |
| Tle1 |
A |
G |
4: 72,088,955 (GRCm39) |
L96P |
probably damaging |
Het |
| Tmem260 |
A |
C |
14: 48,717,782 (GRCm39) |
S276R |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,600,643 (GRCm39) |
S24P |
probably damaging |
Het |
| Vcam1 |
T |
C |
3: 115,909,600 (GRCm39) |
I576V |
probably benign |
Het |
| Vmn1r27 |
G |
T |
6: 58,192,538 (GRCm39) |
N105K |
probably benign |
Het |
| Vmn2r12 |
A |
C |
5: 109,240,893 (GRCm39) |
Y73* |
probably null |
Het |
| Vmn2r86 |
T |
C |
10: 130,282,151 (GRCm39) |
I822V |
probably benign |
Het |
| Wdr6 |
C |
T |
9: 108,452,096 (GRCm39) |
V596I |
possibly damaging |
Het |
| Zfp946 |
A |
T |
17: 22,673,643 (GRCm39) |
K132N |
possibly damaging |
Het |
|
| Other mutations in Nckap1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03263:Nckap1l
|
APN |
15 |
103,372,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-12-09 |
Incidental Mutation