Incidental Mutation 'R3971:Nckap1l'
| ID |
310992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nckap1l
|
| Ensembl Gene |
ENSMUSG00000022488 |
| Gene Name |
NCK associated protein 1 like |
| Synonyms |
Hem1, 4930568P13Rik |
| MMRRC Submission |
040839-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.835)
|
| Stock # |
R3971 (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 103370987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 189
(K189E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047405]
[ENSMUST00000229127]
|
| AlphaFold |
Q8K1X4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047405
AA Change: K189E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: K189E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nckap1
|
7 |
1123 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229127
AA Change: K189E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229468
|
| Meta Mutation Damage Score |
0.7267 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
95% (38/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
C |
T |
8: 60,971,615 (GRCm39) |
P147L |
probably damaging |
Het |
| Apbb1ip |
T |
A |
2: 22,713,506 (GRCm39) |
D120E |
unknown |
Het |
| Atp10b |
A |
G |
11: 43,107,339 (GRCm39) |
D791G |
probably damaging |
Het |
| Aunip |
A |
G |
4: 134,250,780 (GRCm39) |
K242E |
possibly damaging |
Het |
| Ccdc80 |
A |
G |
16: 44,916,183 (GRCm39) |
E313G |
probably benign |
Het |
| Cd72 |
C |
T |
4: 43,449,491 (GRCm39) |
R275H |
probably damaging |
Het |
| Chrnb1 |
A |
G |
11: 69,683,742 (GRCm39) |
|
probably benign |
Het |
| Coro2b |
C |
T |
9: 62,336,522 (GRCm39) |
A251T |
possibly damaging |
Het |
| Cspg4b |
A |
G |
13: 113,453,660 (GRCm39) |
E41G |
probably damaging |
Het |
| Ddr2 |
A |
G |
1: 169,815,986 (GRCm39) |
F574L |
probably damaging |
Het |
| Dock1 |
G |
A |
7: 134,348,637 (GRCm39) |
D284N |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,632,399 (GRCm39) |
H4506R |
probably benign |
Het |
| Fam174b |
T |
C |
7: 73,416,348 (GRCm39) |
V147A |
probably damaging |
Het |
| Glp2r |
T |
A |
11: 67,637,641 (GRCm39) |
D130V |
possibly damaging |
Het |
| Gm18856 |
A |
T |
13: 14,139,433 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
A |
G |
14: 51,602,841 (GRCm39) |
Y59C |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,411,514 (GRCm39) |
D1062G |
probably damaging |
Het |
| Ifit2 |
A |
G |
19: 34,551,441 (GRCm39) |
E327G |
probably benign |
Het |
| Ighv1-37 |
A |
T |
12: 114,860,079 (GRCm39) |
S43T |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,812,020 (GRCm39) |
N158S |
probably damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,557,408 (GRCm39) |
I138K |
probably benign |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,218,857 (GRCm39) |
D193N |
possibly damaging |
Het |
| Myo5b |
C |
T |
18: 74,873,598 (GRCm39) |
L1501F |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or6c69 |
T |
C |
10: 129,747,742 (GRCm39) |
N135S |
probably benign |
Het |
| Otop1 |
A |
G |
5: 38,457,533 (GRCm39) |
I431V |
probably benign |
Het |
| Psma8 |
A |
G |
18: 14,890,444 (GRCm39) |
K195E |
possibly damaging |
Het |
| Rbm25 |
A |
G |
12: 83,721,982 (GRCm39) |
T723A |
probably benign |
Het |
| Sema3b |
A |
G |
9: 107,477,567 (GRCm39) |
S485P |
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,063,268 (GRCm39) |
L916Q |
possibly damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,849,971 (GRCm39) |
D719V |
possibly damaging |
Het |
| Synj1 |
A |
G |
16: 90,788,491 (GRCm39) |
S86P |
probably damaging |
Het |
| Tmem130 |
T |
A |
5: 144,692,131 (GRCm39) |
H91L |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,842,562 (GRCm39) |
D288G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vps35l |
T |
C |
7: 118,433,022 (GRCm39) |
I585T |
probably damaging |
Het |
| Wac |
T |
C |
18: 7,916,175 (GRCm39) |
V303A |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,311,932 (GRCm39) |
V254A |
probably benign |
Het |
| Zfp993 |
A |
G |
4: 146,742,089 (GRCm39) |
T138A |
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 |
|
|
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 |
|
|
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'- TGTCTACAGTTGGGCATCAG -3'
(R):5'- GCTGCTGATGAGGCTTAGAAG -3'
Sequencing Primer
(F):5'- TCTACAGTTGGGCATCAGTATATG -3'
(R):5'- ACTGCTCAGCTCCCTGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation