Incidental Mutation 'R0412:Nckap1l'
| ID |
36735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nckap1l
|
| Ensembl Gene |
ENSMUSG00000022488 |
| Gene Name |
NCK associated protein 1 like |
| Synonyms |
Hem1, 4930568P13Rik |
| MMRRC Submission |
038614-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.852)
|
| Stock # |
R0412 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
103362221-103407237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103373079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 311
(S311C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047405]
[ENSMUST00000229127]
|
| AlphaFold |
Q8K1X4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047405
AA Change: S311C
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: S311C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nckap1
|
7 |
1123 |
N/A |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000229127
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229468
|
| Meta Mutation Damage Score |
0.1752 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.2%
|
| Validation Efficiency |
94% (67/71) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
C |
A |
7: 101,039,429 (GRCm39) |
A563D |
probably damaging |
Het |
| Arhgap28 |
G |
A |
17: 68,203,253 (GRCm39) |
L67F |
probably damaging |
Het |
| Atp7b |
G |
T |
8: 22,485,675 (GRCm39) |
|
probably null |
Het |
| Auts2 |
A |
G |
5: 131,475,669 (GRCm39) |
F485L |
probably benign |
Het |
| Ccdc68 |
A |
G |
18: 70,093,510 (GRCm39) |
E239G |
probably damaging |
Het |
| Cdc42bpg |
T |
G |
19: 6,363,487 (GRCm39) |
L449R |
probably damaging |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Ddx41 |
G |
T |
13: 55,678,421 (GRCm39) |
S630Y |
probably damaging |
Het |
| Dntt |
T |
C |
19: 41,031,372 (GRCm39) |
L274P |
probably damaging |
Het |
| Fhl4 |
G |
T |
10: 84,934,680 (GRCm39) |
H34N |
possibly damaging |
Het |
| Filip1 |
A |
T |
9: 79,727,571 (GRCm39) |
N349K |
possibly damaging |
Het |
| Gm9894 |
C |
T |
13: 67,913,145 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
A |
G |
11: 97,229,633 (GRCm39) |
S841P |
probably damaging |
Het |
| Gpr35 |
G |
T |
1: 92,910,506 (GRCm39) |
V73L |
probably benign |
Het |
| Grik5 |
A |
G |
7: 24,713,099 (GRCm39) |
V809A |
possibly damaging |
Het |
| H2-T13 |
T |
A |
17: 36,392,413 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,128,283 (GRCm39) |
T451A |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,278,259 (GRCm39) |
V1654M |
probably damaging |
Het |
| Htra3 |
G |
T |
5: 35,828,409 (GRCm39) |
A157E |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,902,835 (GRCm39) |
V2405D |
probably damaging |
Het |
| Irs3 |
C |
A |
5: 137,642,139 (GRCm39) |
R433L |
probably benign |
Het |
| Kcmf1 |
G |
A |
6: 72,825,224 (GRCm39) |
Q239* |
probably null |
Het |
| Kcnk9 |
A |
G |
15: 72,384,905 (GRCm39) |
|
probably benign |
Het |
| Kif28 |
A |
G |
1: 179,530,091 (GRCm39) |
V622A |
probably benign |
Het |
| Klrb1f |
A |
T |
6: 129,031,294 (GRCm39) |
I164F |
probably benign |
Het |
| Lama2 |
A |
G |
10: 27,066,621 (GRCm39) |
S1087P |
possibly damaging |
Het |
| Mchr1 |
A |
T |
15: 81,119,948 (GRCm39) |
|
probably benign |
Het |
| Mcidas |
A |
G |
13: 113,135,677 (GRCm39) |
T367A |
probably damaging |
Het |
| Mphosph8 |
A |
C |
14: 56,911,870 (GRCm39) |
K298Q |
probably damaging |
Het |
| Mroh2a |
G |
T |
1: 88,162,938 (GRCm39) |
Q360H |
probably benign |
Het |
| Mst1 |
A |
C |
9: 107,960,793 (GRCm39) |
D461A |
probably benign |
Het |
| Or2y1 |
T |
A |
11: 49,385,594 (GRCm39) |
V78E |
probably damaging |
Het |
| Or4c125 |
T |
A |
2: 89,170,422 (GRCm39) |
M75L |
probably benign |
Het |
| Or5m9b |
C |
T |
2: 85,905,435 (GRCm39) |
A117V |
probably benign |
Het |
| Or8c11 |
A |
C |
9: 38,290,090 (GRCm39) |
K298N |
probably damaging |
Het |
| Pde3a |
T |
G |
6: 141,444,410 (GRCm39) |
C1073G |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,188,012 (GRCm39) |
D3432G |
probably damaging |
Het |
| Ppargc1b |
G |
T |
18: 61,448,932 (GRCm39) |
P130Q |
probably damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,645,213 (GRCm39) |
I228T |
probably damaging |
Het |
| Pram1 |
A |
G |
17: 33,860,480 (GRCm39) |
N349S |
probably benign |
Het |
| Ranbp6 |
C |
T |
19: 29,789,483 (GRCm39) |
V290I |
possibly damaging |
Het |
| Rcan3 |
A |
T |
4: 135,143,914 (GRCm39) |
|
probably null |
Het |
| Scn8a |
G |
C |
15: 100,906,187 (GRCm39) |
|
probably benign |
Het |
| Slc12a5 |
C |
T |
2: 164,835,982 (GRCm39) |
T900M |
probably benign |
Het |
| Srsf10 |
A |
G |
4: 135,585,714 (GRCm39) |
Y55C |
probably damaging |
Het |
| Syt7 |
G |
T |
19: 10,421,444 (GRCm39) |
E450* |
probably null |
Het |
| Tbrg4 |
T |
C |
11: 6,573,832 (GRCm39) |
K130R |
probably benign |
Het |
| Tgm7 |
C |
A |
2: 120,931,546 (GRCm39) |
V206F |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,938,955 (GRCm39) |
D67G |
probably damaging |
Het |
| Ttc7 |
A |
G |
17: 87,637,472 (GRCm39) |
K409R |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,590,096 (GRCm39) |
|
probably benign |
Het |
| Vmn1r171 |
C |
T |
7: 23,332,080 (GRCm39) |
L102F |
possibly damaging |
Het |
| Vmn2r59 |
A |
C |
7: 41,695,916 (GRCm39) |
|
probably benign |
Het |
| Vsig2 |
A |
G |
9: 37,453,986 (GRCm39) |
R191G |
probably damaging |
Het |
| Wdr86 |
T |
A |
5: 24,923,232 (GRCm39) |
Q153H |
probably benign |
Het |
| Wdr87-ps |
C |
G |
7: 29,229,995 (GRCm39) |
|
noncoding transcript |
Het |
| Xxylt1 |
T |
A |
16: 30,826,616 (GRCm39) |
N233I |
probably damaging |
Het |
| Zfp160 |
A |
T |
17: 21,247,139 (GRCm39) |
E563V |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,315,323 (GRCm39) |
E71D |
probably benign |
Het |
| Zfp541 |
A |
G |
7: 15,816,099 (GRCm39) |
D862G |
possibly damaging |
Het |
| Zfp639 |
A |
C |
3: 32,571,259 (GRCm39) |
Q47P |
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 |
|
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'- AGATGGCCTGTGAGTATCTGTCCG -3'
(R):5'- CTCTCTCGAAAACCCAGTGAGGCAC -3'
Sequencing Primer
(F):5'- TCATAAGTAAGTTGTAGGAGCACC -3'
(R):5'- TGAGGCACCAACCAAGAGTAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation