Incidental Mutation 'R0375:Nckap1l'
| ID |
30712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nckap1l
|
| Ensembl Gene |
ENSMUSG00000022488 |
| Gene Name |
NCK associated protein 1 like |
| Synonyms |
Hem1, 4930568P13Rik |
| MMRRC Submission |
038581-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.835)
|
| Stock # |
R0375 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
103362221-103407237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103382586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 529
(E529G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047405]
[ENSMUST00000229127]
|
| AlphaFold |
Q8K1X4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047405
AA Change: E529G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: E529G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nckap1
|
7 |
1123 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229127
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230276
|
| Meta Mutation Damage Score |
0.3826 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (61/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
T |
A |
11: 25,719,092 (GRCm39) |
Y17F |
unknown |
Het |
| Aars2 |
A |
G |
17: 45,825,476 (GRCm39) |
D313G |
probably damaging |
Het |
| Abca9 |
A |
T |
11: 110,006,273 (GRCm39) |
D1277E |
probably benign |
Het |
| Adgrl1 |
G |
T |
8: 84,661,530 (GRCm39) |
A981S |
probably damaging |
Het |
| Aff3 |
T |
G |
1: 38,244,021 (GRCm39) |
K917Q |
possibly damaging |
Het |
| BC049715 |
A |
T |
6: 136,816,994 (GRCm39) |
H78L |
probably benign |
Het |
| Bltp1 |
C |
T |
3: 37,100,401 (GRCm39) |
T4707I |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,301,880 (GRCm39) |
A2027S |
possibly damaging |
Het |
| Camk1g |
G |
A |
1: 193,038,709 (GRCm39) |
|
probably benign |
Het |
| Carf |
T |
C |
1: 60,183,161 (GRCm39) |
V386A |
probably damaging |
Het |
| Cd46 |
A |
G |
1: 194,768,472 (GRCm39) |
S82P |
probably benign |
Het |
| Clic5 |
A |
G |
17: 44,581,510 (GRCm39) |
E180G |
possibly damaging |
Het |
| Col27a1 |
A |
G |
4: 63,143,898 (GRCm39) |
T529A |
probably benign |
Het |
| Col7a1 |
C |
T |
9: 108,809,305 (GRCm39) |
R2627C |
unknown |
Het |
| Cuzd1 |
G |
A |
7: 130,913,637 (GRCm39) |
|
probably benign |
Het |
| Cwc27 |
T |
C |
13: 104,944,331 (GRCm39) |
D50G |
possibly damaging |
Het |
| Dhx38 |
A |
G |
8: 110,281,813 (GRCm39) |
V735A |
possibly damaging |
Het |
| Dhx57 |
T |
G |
17: 80,565,550 (GRCm39) |
E834A |
probably damaging |
Het |
| Dsg4 |
A |
G |
18: 20,603,936 (GRCm39) |
D801G |
probably damaging |
Het |
| Dtx1 |
T |
C |
5: 120,819,464 (GRCm39) |
E578G |
probably damaging |
Het |
| F830016B08Rik |
A |
T |
18: 60,433,265 (GRCm39) |
H116L |
probably damaging |
Het |
| Fbxw18 |
T |
C |
9: 109,517,907 (GRCm39) |
I360V |
possibly damaging |
Het |
| Fignl2 |
G |
A |
15: 100,951,974 (GRCm39) |
P103S |
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,284,196 (GRCm39) |
T1006A |
probably benign |
Het |
| Ggnbp2 |
G |
T |
11: 84,727,200 (GRCm39) |
C545* |
probably null |
Het |
| Gm3336 |
A |
G |
8: 71,171,294 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
T |
C |
6: 25,669,290 (GRCm39) |
N518S |
probably benign |
Het |
| Hbs1l |
T |
A |
10: 21,218,440 (GRCm39) |
D312E |
possibly damaging |
Het |
| Hoxd10 |
C |
A |
2: 74,523,064 (GRCm39) |
S247R |
probably benign |
Het |
| Ifnb1 |
A |
T |
4: 88,440,981 (GRCm39) |
F11I |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,969,184 (GRCm39) |
|
probably benign |
Het |
| Myo1f |
T |
A |
17: 33,820,930 (GRCm39) |
V879E |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,545,656 (GRCm39) |
F1291L |
probably benign |
Het |
| Npm3 |
T |
C |
19: 45,736,668 (GRCm39) |
E157G |
probably damaging |
Het |
| Or10x4 |
A |
G |
1: 174,218,775 (GRCm39) |
T47A |
probably damaging |
Het |
| Or4a67 |
T |
A |
2: 88,597,985 (GRCm39) |
T225S |
possibly damaging |
Het |
| Or4a68 |
G |
T |
2: 89,269,740 (GRCm39) |
N294K |
probably benign |
Het |
| Pex16 |
G |
A |
2: 92,210,802 (GRCm39) |
G312D |
probably damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,636,286 (GRCm39) |
V768A |
probably benign |
Het |
| Prrc1 |
A |
G |
18: 57,495,564 (GRCm39) |
T14A |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,313,105 (GRCm39) |
L1275P |
probably damaging |
Het |
| Rnf214 |
C |
A |
9: 45,811,121 (GRCm39) |
V181F |
probably damaging |
Het |
| Ror2 |
T |
C |
13: 53,286,040 (GRCm39) |
N58S |
probably damaging |
Het |
| Selplg |
G |
A |
5: 113,958,069 (GRCm39) |
T79I |
probably damaging |
Het |
| Setd1b |
G |
A |
5: 123,295,500 (GRCm39) |
G1023S |
unknown |
Het |
| Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,562,793 (GRCm39) |
V803A |
unknown |
Het |
| Slc25a46 |
T |
C |
18: 31,716,319 (GRCm39) |
I394M |
possibly damaging |
Het |
| Snrnp27 |
A |
T |
6: 86,657,935 (GRCm39) |
I101K |
possibly damaging |
Het |
| Spag17 |
C |
A |
3: 99,934,906 (GRCm39) |
T704K |
probably benign |
Het |
| Tas2r144 |
T |
A |
6: 42,193,058 (GRCm39) |
M266K |
possibly damaging |
Het |
| Tasor2 |
A |
G |
13: 3,646,842 (GRCm39) |
V61A |
possibly damaging |
Het |
| Tbc1d31 |
T |
A |
15: 57,818,746 (GRCm39) |
L783H |
probably benign |
Het |
| Tbck |
C |
A |
3: 132,456,993 (GRCm39) |
|
probably benign |
Het |
| Vcan |
A |
G |
13: 89,839,394 (GRCm39) |
V2050A |
probably damaging |
Het |
| Vmn1r70 |
T |
A |
7: 10,367,987 (GRCm39) |
N158K |
probably damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,013,121 (GRCm39) |
Y81N |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,726 (GRCm39) |
T173A |
probably benign |
Het |
| Ylpm1 |
T |
G |
12: 85,061,754 (GRCm39) |
S552A |
unknown |
Het |
| Zdhhc17 |
A |
T |
10: 110,817,967 (GRCm39) |
Y58* |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTCGCCTACAGGTAAGGCTCT -3'
(R):5'- TCAGGACACCCAAGACTACACAA -3'
Sequencing Primer
(F):5'- GGTGGCCTCTGTTCTGATTC -3'
(R):5'- AAACCCTGTCTCCAAAACTC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation