Incidental Mutation 'R6957:Nckap1l'
| ID |
541547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nckap1l
|
| Ensembl Gene |
ENSMUSG00000022488 |
| Gene Name |
NCK associated protein 1 like |
| Synonyms |
Hem1, 4930568P13Rik |
| MMRRC Submission |
045068-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.835)
|
| Stock # |
R6957 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
103362221-103407237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103399938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1040
(V1040A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047405]
[ENSMUST00000229127]
|
| AlphaFold |
Q8K1X4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047405
AA Change: V1040A
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: V1040A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nckap1
|
7 |
1123 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229127
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
A |
G |
1: 138,779,857 (GRCm39) |
S132P |
probably damaging |
Het |
| Abcb5 |
A |
G |
12: 118,871,270 (GRCm39) |
F710L |
probably damaging |
Het |
| Acsm4 |
T |
G |
7: 119,310,622 (GRCm39) |
V503G |
probably damaging |
Het |
| Adam26a |
T |
A |
8: 44,021,940 (GRCm39) |
M517L |
probably benign |
Het |
| Adcy10 |
C |
A |
1: 165,391,854 (GRCm39) |
L1345I |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,715,609 (GRCm39) |
I860V |
probably benign |
Het |
| Alcam |
T |
C |
16: 52,097,257 (GRCm39) |
D333G |
probably damaging |
Het |
| Amt |
C |
A |
9: 108,177,032 (GRCm39) |
F213L |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,604,278 (GRCm39) |
T1333A |
probably damaging |
Het |
| Asxl3 |
C |
A |
18: 22,655,148 (GRCm39) |
L1053I |
probably damaging |
Het |
| Atxn10 |
T |
C |
15: 85,220,699 (GRCm39) |
S12P |
probably damaging |
Het |
| AU021092 |
T |
C |
16: 5,030,017 (GRCm39) |
I333V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,886,486 (GRCm39) |
I577V |
probably benign |
Het |
| Cadm2 |
A |
T |
16: 66,609,726 (GRCm39) |
F132I |
probably benign |
Het |
| Casp3 |
T |
A |
8: 47,087,308 (GRCm39) |
V85D |
probably damaging |
Het |
| Ccdc168 |
C |
T |
1: 44,096,367 (GRCm39) |
C1577Y |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,342,944 (GRCm39) |
|
probably benign |
Het |
| Cd22 |
T |
C |
7: 30,566,999 (GRCm39) |
R760G |
possibly damaging |
Het |
| Cela3a |
A |
T |
4: 137,135,441 (GRCm39) |
W41R |
probably damaging |
Het |
| Cep164 |
A |
G |
9: 45,683,578 (GRCm39) |
|
probably null |
Het |
| Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
| Ddx20 |
C |
A |
3: 105,591,626 (GRCm39) |
K181N |
probably benign |
Het |
| Dnah14 |
G |
C |
1: 181,612,740 (GRCm39) |
A3846P |
possibly damaging |
Het |
| Ern1 |
A |
C |
11: 106,294,365 (GRCm39) |
I813S |
probably damaging |
Het |
| Fam181a |
G |
A |
12: 103,282,773 (GRCm39) |
G226D |
probably damaging |
Het |
| Fam186a |
T |
A |
15: 99,844,357 (GRCm39) |
D629V |
unknown |
Het |
| Gipr |
T |
A |
7: 18,898,529 (GRCm39) |
T26S |
probably benign |
Het |
| Gm3159 |
A |
G |
14: 4,398,530 (GRCm38) |
R74G |
possibly damaging |
Het |
| Greb1l |
G |
A |
18: 10,558,786 (GRCm39) |
V1814I |
probably benign |
Het |
| Hacd1 |
A |
T |
2: 14,049,664 (GRCm39) |
V98E |
probably damaging |
Het |
| Iars1 |
T |
G |
13: 49,875,637 (GRCm39) |
F775V |
probably damaging |
Het |
| Il12rb2 |
G |
A |
6: 67,269,636 (GRCm39) |
L726F |
possibly damaging |
Het |
| Itih4 |
T |
C |
14: 30,614,560 (GRCm39) |
V474A |
probably damaging |
Het |
| Kmt2a |
A |
C |
9: 44,731,319 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,904,810 (GRCm39) |
L196* |
probably null |
Het |
| Lipo4 |
A |
G |
19: 33,476,767 (GRCm39) |
V327A |
probably benign |
Het |
| Lratd2 |
T |
C |
15: 60,694,934 (GRCm39) |
T271A |
probably benign |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrp4 |
C |
A |
2: 91,317,387 (GRCm39) |
T837K |
probably damaging |
Het |
| Mad1l1 |
G |
T |
5: 140,051,572 (GRCm39) |
F664L |
probably damaging |
Het |
| Mecr |
A |
G |
4: 131,589,172 (GRCm39) |
T247A |
probably benign |
Het |
| Msi1 |
G |
A |
5: 115,583,483 (GRCm39) |
A228T |
probably benign |
Het |
| Mup5 |
T |
A |
4: 61,751,273 (GRCm39) |
N125I |
probably damaging |
Het |
| Mybl2 |
C |
T |
2: 162,914,728 (GRCm39) |
S282F |
possibly damaging |
Het |
| Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
| Nalcn |
T |
C |
14: 123,744,966 (GRCm39) |
D354G |
probably damaging |
Het |
| Nlrp12 |
T |
A |
7: 3,271,160 (GRCm39) |
D1051V |
probably damaging |
Het |
| Nudt7 |
A |
G |
8: 114,860,385 (GRCm39) |
K16R |
probably benign |
Het |
| Or4b1 |
G |
T |
2: 89,979,494 (GRCm39) |
Y285* |
probably null |
Het |
| Or8g29-ps1 |
A |
G |
9: 39,200,577 (GRCm39) |
V203A |
unknown |
Het |
| Paqr3 |
A |
T |
5: 97,256,110 (GRCm39) |
I88K |
possibly damaging |
Het |
| Parp9 |
A |
G |
16: 35,768,716 (GRCm39) |
M299V |
probably benign |
Het |
| Pde4dip |
A |
T |
3: 97,731,649 (GRCm39) |
|
probably null |
Het |
| Pex13 |
T |
G |
11: 23,605,628 (GRCm39) |
M201L |
probably benign |
Het |
| Pfas |
C |
A |
11: 68,884,709 (GRCm39) |
V498L |
probably benign |
Het |
| Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,070,414 (GRCm39) |
D932V |
probably damaging |
Het |
| Qng1 |
C |
A |
13: 58,529,775 (GRCm39) |
C279F |
probably damaging |
Het |
| Qsox2 |
C |
T |
2: 26,107,654 (GRCm39) |
A445T |
probably benign |
Het |
| Rapgef1 |
C |
A |
2: 29,623,710 (GRCm39) |
Q820K |
possibly damaging |
Het |
| Samd13 |
A |
G |
3: 146,368,424 (GRCm39) |
|
probably null |
Het |
| Samm50 |
G |
T |
15: 84,082,850 (GRCm39) |
D104Y |
probably damaging |
Het |
| Sbk3 |
A |
T |
7: 4,970,522 (GRCm39) |
F282L |
probably benign |
Het |
| Sfmbt1 |
C |
T |
14: 30,509,546 (GRCm39) |
H342Y |
probably benign |
Het |
| Sgo2b |
CCATCATCATCATCATCATCAT |
CCATCATCATCATCATCAT |
8: 64,384,489 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,043,344 (GRCm39) |
L596* |
probably null |
Het |
| Spata31h1 |
A |
T |
10: 82,129,620 (GRCm39) |
I1130K |
probably benign |
Het |
| St8sia3 |
T |
C |
18: 64,404,853 (GRCm39) |
S377P |
probably benign |
Het |
| Stmnd1 |
T |
G |
13: 46,427,375 (GRCm39) |
S28A |
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,920,561 (GRCm39) |
L458Q |
probably damaging |
Het |
| Synm |
C |
T |
7: 67,385,848 (GRCm39) |
V163I |
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 57,028,686 (GRCm39) |
C161R |
probably damaging |
Het |
| Tnfrsf4 |
G |
A |
4: 156,100,625 (GRCm39) |
V215I |
probably benign |
Het |
| Vars2 |
T |
G |
17: 35,977,967 (GRCm39) |
K67Q |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,304,753 (GRCm39) |
Y559* |
probably null |
Het |
| Wdpcp |
T |
C |
11: 21,671,154 (GRCm39) |
I465T |
possibly damaging |
Het |
| Zwilch |
A |
C |
9: 64,069,844 (GRCm39) |
|
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 |
|
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 |
|
|
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'- TGTCAATTAGGGTGGTCCAGC -3'
(R):5'- AAGTCCCAGCTGTCAGGAAG -3'
Sequencing Primer
(F):5'- TCAGAGACAGAGACAAAGACTTACTC -3'
(R):5'- GGAAGGTTAAAAGCCTCTACTCTTCC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation