Incidental Mutation 'R7699:Nckap1l'
ID |
652087 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nckap1l
|
Ensembl Gene |
ENSMUSG00000022488 |
Gene Name |
NCK associated protein 1 like |
Synonyms |
Hem1, 4930568P13Rik |
MMRRC Submission |
045760-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.852)
|
Stock # |
R7699 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
103362221-103407237 bp(+) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
A to G
at 103371248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035400
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047405]
[ENSMUST00000229127]
|
AlphaFold |
Q8K1X4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047405
|
SMART Domains |
Protein: ENSMUSP00000035400 Gene: ENSMUSG00000022488
Domain | Start | End | E-Value | Type |
Pfam:Nckap1
|
7 |
1123 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229127
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (74/75) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
C |
A |
9: 90,070,792 (GRCm39) |
P638T |
probably damaging |
Het |
BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
Bcl2l2 |
C |
T |
14: 55,121,836 (GRCm39) |
|
probably benign |
Het |
Cacna1e |
A |
T |
1: 154,319,674 (GRCm39) |
I1404N |
probably damaging |
Het |
Cdc42se1 |
A |
G |
3: 95,139,908 (GRCm39) |
N35D |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,376,231 (GRCm39) |
S1447G |
probably benign |
Het |
Chd6 |
T |
A |
2: 160,867,863 (GRCm39) |
H436L |
probably benign |
Het |
Cnbd2 |
T |
C |
2: 156,217,326 (GRCm39) |
V605A |
probably benign |
Het |
Col22a1 |
T |
A |
15: 71,845,700 (GRCm39) |
D354V |
probably damaging |
Het |
Col25a1 |
T |
A |
3: 130,316,128 (GRCm39) |
|
probably null |
Het |
Cttnbp2 |
T |
A |
6: 18,514,734 (GRCm39) |
M1L |
possibly damaging |
Het |
Cux1 |
A |
T |
5: 136,514,593 (GRCm39) |
|
probably null |
Het |
Cylc2 |
T |
A |
4: 51,229,335 (GRCm39) |
S226T |
unknown |
Het |
Cyp4b1 |
T |
C |
4: 115,499,162 (GRCm39) |
D68G |
probably benign |
Het |
Dicer1 |
A |
C |
12: 104,671,429 (GRCm39) |
L947R |
probably damaging |
Het |
Dmp1 |
T |
C |
5: 104,359,590 (GRCm39) |
S89P |
probably damaging |
Het |
Dpf1 |
A |
G |
7: 29,011,032 (GRCm39) |
K144E |
possibly damaging |
Het |
Emc1 |
T |
A |
4: 139,082,181 (GRCm39) |
H94Q |
probably benign |
Het |
Ep300 |
C |
T |
15: 81,470,594 (GRCm39) |
|
probably benign |
Het |
Epha10 |
T |
C |
4: 124,796,440 (GRCm39) |
I383T |
|
Het |
Epo |
T |
A |
5: 137,483,438 (GRCm39) |
E5D |
probably benign |
Het |
Esp15 |
G |
A |
17: 39,955,624 (GRCm39) |
V64I |
possibly damaging |
Het |
Fbxl18 |
A |
T |
5: 142,871,504 (GRCm39) |
V577E |
probably damaging |
Het |
Fhl4 |
A |
T |
10: 84,934,113 (GRCm39) |
C223S |
probably damaging |
Het |
Fhl4 |
A |
T |
10: 84,934,379 (GRCm39) |
I134N |
probably benign |
Het |
Frmpd2 |
G |
T |
14: 33,264,895 (GRCm39) |
M891I |
probably benign |
Het |
Gk2 |
T |
C |
5: 97,604,257 (GRCm39) |
I194V |
probably benign |
Het |
Glt8d2 |
A |
C |
10: 82,498,122 (GRCm39) |
|
probably null |
Het |
Gm12886 |
G |
C |
4: 121,273,876 (GRCm39) |
H113Q |
possibly damaging |
Het |
Hycc1 |
A |
G |
5: 24,120,494 (GRCm39) |
S345P |
probably damaging |
Het |
Ighv1-36 |
A |
T |
12: 114,843,646 (GRCm39) |
Y71* |
probably null |
Het |
Il18bp |
A |
G |
7: 101,666,029 (GRCm39) |
W50R |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,054,195 (GRCm39) |
I33K |
probably benign |
Het |
Lama5 |
C |
T |
2: 179,822,654 (GRCm39) |
A2833T |
probably damaging |
Het |
Manea |
T |
G |
4: 26,340,758 (GRCm39) |
N68T |
probably benign |
Het |
Map1a |
T |
C |
2: 121,130,201 (GRCm39) |
L339P |
probably damaging |
Het |
Mblac1 |
A |
C |
5: 138,192,919 (GRCm39) |
D87A |
probably damaging |
Het |
Mmp24 |
C |
T |
2: 155,640,096 (GRCm39) |
T142I |
probably damaging |
Het |
Mpp2 |
T |
A |
11: 101,950,261 (GRCm39) |
H531L |
probably damaging |
Het |
Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
Mx1 |
T |
A |
16: 97,249,521 (GRCm39) |
I339F |
unknown |
Het |
Naip2 |
G |
A |
13: 100,296,877 (GRCm39) |
T1053I |
probably benign |
Het |
Or51f23c-ps1 |
A |
G |
7: 102,431,529 (GRCm39) |
Y282C |
possibly damaging |
Het |
Or5an1b |
T |
C |
19: 12,299,841 (GRCm39) |
T117A |
probably benign |
Het |
Otud7b |
T |
C |
3: 96,063,280 (GRCm39) |
F840L |
probably damaging |
Het |
Pdzd8 |
T |
C |
19: 59,333,373 (GRCm39) |
Y216C |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,915,142 (GRCm39) |
I133F |
|
Het |
Plaur |
A |
G |
7: 24,173,692 (GRCm39) |
N221S |
possibly damaging |
Het |
Plin4 |
T |
C |
17: 56,410,828 (GRCm39) |
T1068A |
probably benign |
Het |
Plxnd1 |
T |
C |
6: 115,936,755 (GRCm39) |
D1659G |
probably damaging |
Het |
Prpf8 |
T |
A |
11: 75,391,022 (GRCm39) |
M1357K |
probably benign |
Het |
Prr36 |
G |
T |
8: 4,263,989 (GRCm39) |
T559N |
unknown |
Het |
Prss46 |
A |
G |
9: 110,678,622 (GRCm39) |
M2V |
probably benign |
Het |
Rbpms |
T |
A |
8: 34,354,391 (GRCm39) |
E51D |
probably damaging |
Het |
Rere |
C |
T |
4: 150,701,555 (GRCm39) |
R328W |
|
Het |
Retnla |
T |
A |
16: 48,663,176 (GRCm39) |
N26K |
probably benign |
Het |
Rubcnl |
G |
A |
14: 75,269,404 (GRCm39) |
V21I |
probably benign |
Het |
Safb |
T |
A |
17: 56,908,504 (GRCm39) |
S598R |
unknown |
Het |
Sertad4 |
A |
G |
1: 192,529,175 (GRCm39) |
S214P |
possibly damaging |
Het |
Sin3a |
C |
T |
9: 57,017,938 (GRCm39) |
Q786* |
probably null |
Het |
Slc8a3 |
A |
C |
12: 81,361,247 (GRCm39) |
L524W |
probably damaging |
Het |
Sp3 |
T |
C |
2: 72,801,573 (GRCm39) |
T191A |
probably benign |
Het |
Sp9 |
T |
C |
2: 73,103,724 (GRCm39) |
S93P |
probably damaging |
Het |
Tbrg1 |
A |
C |
9: 37,560,771 (GRCm39) |
H368Q |
probably benign |
Het |
Tinagl1 |
T |
G |
4: 130,061,832 (GRCm39) |
Q198H |
probably benign |
Het |
Usp19 |
C |
T |
9: 108,373,371 (GRCm39) |
R648* |
probably null |
Het |
Vmn2r124 |
A |
G |
17: 18,293,985 (GRCm39) |
M691V |
probably benign |
Het |
Vmn2r2 |
T |
A |
3: 64,024,536 (GRCm39) |
M682L |
possibly damaging |
Het |
Vps13d |
T |
A |
4: 144,811,975 (GRCm39) |
H3344L |
|
Het |
Vwa3a |
G |
A |
7: 120,351,841 (GRCm39) |
G35E |
probably damaging |
Het |
Zfhx3 |
A |
G |
8: 109,677,754 (GRCm39) |
S2935G |
probably benign |
Het |
Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
Zfp758 |
C |
A |
17: 22,594,646 (GRCm39) |
Y377* |
probably null |
Het |
Zfp952 |
A |
G |
17: 33,220,983 (GRCm39) |
K67R |
possibly 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 |
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 |
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'- AGACTCATCCAGGCAGAAGC -3'
(R):5'- ACTGGCTCCTAATGTAAATTCCTAC -3'
Sequencing Primer
(F):5'- TCCAGGCAGAAGCATTCATATTC -3'
(R):5'- CCTTAGTCTTCCAAGTGAAAGGGTC -3'
|
Posted On |
2020-10-14 |