Incidental Mutation 'R0114:Nckap1l'
ID |
20679 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nckap1l
|
Ensembl Gene |
ENSMUSG00000022488 |
Gene Name |
NCK associated protein 1 like |
Synonyms |
Hem1, 4930568P13Rik |
MMRRC Submission |
038400-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.852)
|
Stock # |
R0114 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
15 |
Chromosomal Location |
103362221-103407237 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 103363455 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 54
(C54S)
|
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: C54S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000035400 Gene: ENSMUSG00000022488 AA Change: C54S
Domain | Start | End | E-Value | Type |
Pfam:Nckap1
|
7 |
1123 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229127
AA Change: C54S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229468
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 93.2%
- 20x: 79.2%
|
Validation Efficiency |
100% (99/99) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057J18Rik |
T |
C |
10: 28,861,978 (GRCm39) |
|
probably benign |
Het |
4933427D14Rik |
T |
C |
11: 72,086,625 (GRCm39) |
Y262C |
probably damaging |
Het |
Adamts1 |
C |
A |
16: 85,596,502 (GRCm39) |
V379L |
probably benign |
Het |
Akt3 |
T |
C |
1: 176,894,817 (GRCm39) |
D260G |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,596,785 (GRCm39) |
L537P |
probably benign |
Het |
Anln |
A |
T |
9: 22,264,642 (GRCm39) |
I876N |
probably damaging |
Het |
Ano9 |
A |
T |
7: 140,683,152 (GRCm39) |
|
probably benign |
Het |
Arhgef10l |
T |
C |
4: 140,311,194 (GRCm39) |
E218G |
probably benign |
Het |
Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
Atp9a |
G |
T |
2: 168,552,776 (GRCm39) |
Y63* |
probably null |
Het |
Bmpr2 |
G |
T |
1: 59,854,499 (GRCm39) |
C116F |
probably damaging |
Het |
Cand1 |
T |
C |
10: 119,052,427 (GRCm39) |
D233G |
probably benign |
Het |
Cftr |
A |
T |
6: 18,282,447 (GRCm39) |
H1049L |
probably damaging |
Het |
Ckap5 |
A |
T |
2: 91,450,457 (GRCm39) |
D1975V |
possibly damaging |
Het |
Cyp26c1 |
T |
C |
19: 37,675,081 (GRCm39) |
V134A |
probably benign |
Het |
Dnai1 |
T |
C |
4: 41,605,686 (GRCm39) |
|
probably benign |
Het |
Dpp10 |
T |
C |
1: 123,413,821 (GRCm39) |
I163V |
probably benign |
Het |
Fam151a |
A |
T |
4: 106,591,201 (GRCm39) |
I15F |
possibly damaging |
Het |
Fanca |
A |
T |
8: 124,015,230 (GRCm39) |
|
probably null |
Het |
Fes |
A |
G |
7: 80,027,783 (GRCm39) |
V787A |
probably damaging |
Het |
Fnip1 |
C |
T |
11: 54,378,627 (GRCm39) |
|
probably benign |
Het |
Gabpb1 |
A |
G |
2: 126,495,494 (GRCm39) |
I86T |
probably damaging |
Het |
Gmds |
A |
T |
13: 32,411,264 (GRCm39) |
S57T |
probably benign |
Het |
Gnpat |
T |
G |
8: 125,610,096 (GRCm39) |
D426E |
probably benign |
Het |
Gnptab |
C |
A |
10: 88,269,262 (GRCm39) |
P655Q |
possibly damaging |
Het |
Gpi-ps |
A |
G |
8: 5,690,359 (GRCm39) |
|
noncoding transcript |
Het |
Herc1 |
T |
A |
9: 66,369,128 (GRCm39) |
F2941I |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,803,522 (GRCm39) |
|
probably benign |
Het |
Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
Itga11 |
T |
G |
9: 62,642,575 (GRCm39) |
V166G |
probably damaging |
Het |
Itga11 |
T |
C |
9: 62,667,584 (GRCm39) |
V639A |
possibly damaging |
Het |
Itpr2 |
A |
G |
6: 146,214,377 (GRCm39) |
F1490S |
probably damaging |
Het |
Lama2 |
C |
A |
10: 26,869,064 (GRCm39) |
E802* |
probably null |
Het |
Lgi3 |
C |
T |
14: 70,768,469 (GRCm39) |
|
probably benign |
Het |
Limch1 |
C |
T |
5: 67,193,427 (GRCm39) |
|
probably benign |
Het |
Lipc |
T |
C |
9: 70,711,063 (GRCm39) |
N363S |
probably damaging |
Het |
Lrit2 |
A |
G |
14: 36,790,002 (GRCm39) |
|
probably null |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Mug2 |
A |
G |
6: 122,017,607 (GRCm39) |
Y448C |
probably damaging |
Het |
Mybpc3 |
A |
G |
2: 90,954,839 (GRCm39) |
E450G |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,875,242 (GRCm39) |
T1549S |
probably benign |
Het |
Naa15 |
T |
C |
3: 51,355,859 (GRCm39) |
|
probably null |
Het |
Nlrp9b |
A |
G |
7: 19,757,981 (GRCm39) |
D406G |
probably benign |
Het |
Nprl3 |
T |
A |
11: 32,189,784 (GRCm39) |
|
probably benign |
Het |
Nvl |
A |
G |
1: 180,947,956 (GRCm39) |
V429A |
probably benign |
Het |
Opa1 |
A |
T |
16: 29,448,453 (GRCm39) |
N912Y |
probably benign |
Het |
Or14j3 |
A |
T |
17: 37,900,306 (GRCm39) |
*313K |
probably null |
Het |
Or1x2 |
G |
A |
11: 50,918,431 (GRCm39) |
V201I |
probably benign |
Het |
Or52b4i |
A |
T |
7: 102,191,938 (GRCm39) |
Q265L |
probably benign |
Het |
Or6c211 |
T |
A |
10: 129,505,467 (GRCm39) |
Y307F |
probably benign |
Het |
Pcnx1 |
T |
C |
12: 82,042,869 (GRCm39) |
V2317A |
possibly damaging |
Het |
Phf3 |
A |
T |
1: 30,844,524 (GRCm39) |
N1478K |
possibly damaging |
Het |
Phykpl |
G |
A |
11: 51,477,480 (GRCm39) |
D91N |
probably benign |
Het |
Polr2b |
T |
A |
5: 77,491,110 (GRCm39) |
C984S |
probably damaging |
Het |
Ppfibp1 |
A |
G |
6: 146,899,731 (GRCm39) |
R141G |
probably benign |
Het |
Ppm1d |
G |
A |
11: 85,217,731 (GRCm39) |
G20R |
probably damaging |
Het |
Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
Ppp2r5b |
C |
A |
19: 6,278,461 (GRCm39) |
V483F |
probably benign |
Het |
Ppp4r4 |
T |
A |
12: 103,542,633 (GRCm39) |
C132S |
probably benign |
Het |
Prg2 |
A |
G |
2: 84,813,800 (GRCm39) |
|
probably benign |
Het |
Prpf4b |
G |
A |
13: 35,074,471 (GRCm39) |
|
probably benign |
Het |
Rad54l2 |
T |
C |
9: 106,590,654 (GRCm39) |
T491A |
probably damaging |
Het |
Rnf213 |
G |
T |
11: 119,305,413 (GRCm39) |
W548L |
probably damaging |
Het |
Rusc2 |
G |
T |
4: 43,422,055 (GRCm39) |
C825F |
probably damaging |
Het |
Sema4b |
A |
G |
7: 79,868,826 (GRCm39) |
|
probably benign |
Het |
Sema6a |
A |
G |
18: 47,423,244 (GRCm39) |
V254A |
probably damaging |
Het |
Slc13a3 |
A |
G |
2: 165,266,501 (GRCm39) |
F346L |
probably damaging |
Het |
Slc25a17 |
T |
C |
15: 81,222,160 (GRCm39) |
D104G |
probably damaging |
Het |
Specc1 |
A |
T |
11: 62,037,139 (GRCm39) |
N707Y |
possibly damaging |
Het |
Tex48 |
T |
A |
4: 63,526,696 (GRCm39) |
E76V |
probably damaging |
Het |
Tfr2 |
T |
C |
5: 137,575,727 (GRCm39) |
V281A |
probably benign |
Het |
Tgfb1i1 |
A |
C |
7: 127,848,666 (GRCm39) |
Q238H |
probably damaging |
Het |
Thoc6 |
G |
A |
17: 23,889,213 (GRCm39) |
T122I |
probably benign |
Het |
Tmtc1 |
G |
A |
6: 148,314,328 (GRCm39) |
|
probably benign |
Het |
Tnfrsf8 |
T |
C |
4: 145,014,617 (GRCm39) |
D264G |
possibly damaging |
Het |
Trim43a |
T |
A |
9: 88,466,213 (GRCm39) |
I178N |
probably damaging |
Het |
Ttn |
G |
C |
2: 76,537,437 (GRCm39) |
I26503M |
possibly damaging |
Het |
Usp28 |
C |
A |
9: 48,950,323 (GRCm39) |
D589E |
probably benign |
Het |
Utp23 |
T |
C |
15: 51,745,907 (GRCm39) |
S242P |
probably damaging |
Het |
Vwa3a |
A |
G |
7: 120,374,603 (GRCm39) |
Y305C |
probably benign |
Het |
Vwa5b1 |
C |
A |
4: 138,336,169 (GRCm39) |
E142* |
probably null |
Het |
Xrn2 |
A |
T |
2: 146,871,699 (GRCm39) |
T374S |
probably damaging |
Het |
Zfp735 |
A |
T |
11: 73,601,488 (GRCm39) |
Q144L |
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTCACTGTCTGGAACGAACTTGG -3'
(R):5'- TTACGACCCTCAATGCCTGAAGCC -3'
Sequencing Primer
(F):5'- GAACGAACTTGGTTTTCAACTACCC -3'
(R):5'- CCCGAGTCTGAGTCTAGGAAAC -3'
|
Posted On |
2013-04-11 |