Incidental Mutation 'R7582:Nckap1l'
ID |
586829 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nckap1l
|
Ensembl Gene |
ENSMUSG00000022488 |
Gene Name |
NCK associated protein 1 like |
Synonyms |
Hem1, 4930568P13Rik |
MMRRC Submission |
045665-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.852)
|
Stock # |
R7582 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
103362221-103407237 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 103390587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 786
(T786I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035400
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047405]
[ENSMUST00000229127]
|
AlphaFold |
Q8K1X4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047405
AA Change: T786I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035400 Gene: ENSMUSG00000022488 AA Change: T786I
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: 99.7%
- 20x: 98.9%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
A |
G |
10: 10,266,565 (GRCm39) |
V1007A |
probably damaging |
Het |
Adgrl3 |
T |
C |
5: 81,841,523 (GRCm39) |
V800A |
probably damaging |
Het |
Ankfn1 |
T |
A |
11: 89,417,445 (GRCm39) |
M56L |
probably benign |
Het |
Arfgap3 |
A |
C |
15: 83,187,302 (GRCm39) |
V72G |
possibly damaging |
Het |
B3galnt2 |
C |
T |
13: 14,165,986 (GRCm39) |
R294W |
probably damaging |
Het |
Cadm1 |
G |
T |
9: 47,708,740 (GRCm39) |
D157Y |
probably damaging |
Het |
Castor1 |
T |
C |
11: 4,170,457 (GRCm39) |
V151A |
probably benign |
Het |
Ccdc81 |
A |
T |
7: 89,525,353 (GRCm39) |
Y474N |
probably damaging |
Het |
Cdkl4 |
T |
A |
17: 80,841,264 (GRCm39) |
K297I |
probably benign |
Het |
Cep128 |
G |
A |
12: 91,314,340 (GRCm39) |
T146M |
probably damaging |
Het |
Cfap161 |
T |
C |
7: 83,426,290 (GRCm39) |
N236S |
possibly damaging |
Het |
Chil3 |
A |
T |
3: 106,071,572 (GRCm39) |
W31R |
probably damaging |
Het |
Cmtm2b |
C |
T |
8: 105,049,353 (GRCm39) |
S86F |
probably damaging |
Het |
Cntnap5a |
G |
A |
1: 116,374,362 (GRCm39) |
G958D |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,822,625 (GRCm39) |
L244P |
unknown |
Het |
Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
Cul9 |
A |
G |
17: 46,821,905 (GRCm39) |
Y1857H |
probably damaging |
Het |
Dst |
A |
G |
1: 34,208,964 (GRCm39) |
Q1154R |
probably damaging |
Het |
Fgg |
G |
A |
3: 82,921,445 (GRCm39) |
G376D |
probably damaging |
Het |
Fmn2 |
T |
C |
1: 174,526,356 (GRCm39) |
S1392P |
probably damaging |
Het |
Focad |
T |
C |
4: 88,147,615 (GRCm39) |
V418A |
probably benign |
Het |
Foxf1 |
A |
T |
8: 121,811,430 (GRCm39) |
H98L |
possibly damaging |
Het |
Frmd4a |
C |
CA |
2: 4,599,408 (GRCm39) |
|
probably null |
Het |
Fry |
C |
A |
5: 150,419,847 (GRCm39) |
T639K |
|
Het |
Fryl |
A |
G |
5: 73,179,843 (GRCm39) |
|
probably null |
Het |
Gdpd4 |
A |
G |
7: 97,607,012 (GRCm39) |
|
probably null |
Het |
Gpt2 |
A |
G |
8: 86,246,145 (GRCm39) |
K368R |
probably damaging |
Het |
Hc |
A |
T |
2: 34,881,278 (GRCm39) |
V1447E |
possibly damaging |
Het |
Kmt5a |
A |
G |
5: 124,597,982 (GRCm39) |
T280A |
probably benign |
Het |
Lrrc4b |
G |
T |
7: 44,111,234 (GRCm39) |
V369L |
probably benign |
Het |
Ly6g5c |
A |
G |
17: 35,330,783 (GRCm39) |
M102V |
probably benign |
Het |
Malrd1 |
A |
G |
2: 15,700,081 (GRCm39) |
S643G |
unknown |
Het |
Mib2 |
T |
C |
4: 155,739,267 (GRCm39) |
N904S |
probably benign |
Het |
Mug2 |
G |
A |
6: 122,056,603 (GRCm39) |
V1183I |
probably damaging |
Het |
Neb |
T |
C |
2: 52,224,504 (GRCm39) |
|
probably benign |
Het |
Neu3 |
A |
G |
7: 99,463,174 (GRCm39) |
V183A |
probably benign |
Het |
Nod1 |
A |
G |
6: 54,921,292 (GRCm39) |
L342P |
probably damaging |
Het |
Nop58 |
T |
C |
1: 59,740,097 (GRCm39) |
V163A |
probably damaging |
Het |
Npr3 |
C |
T |
15: 11,895,768 (GRCm39) |
G293R |
probably null |
Het |
Obscn |
T |
A |
11: 58,952,253 (GRCm39) |
K3939* |
probably null |
Het |
Or4d10c |
G |
A |
19: 12,065,370 (GRCm39) |
A262V |
probably benign |
Het |
Or4g16 |
T |
A |
2: 111,136,793 (GRCm39) |
M81K |
probably damaging |
Het |
Or5k16 |
A |
T |
16: 58,736,410 (GRCm39) |
M198K |
possibly damaging |
Het |
Or5p76 |
A |
G |
7: 108,123,058 (GRCm39) |
I33T |
probably benign |
Het |
Or8b12b |
T |
C |
9: 37,684,117 (GRCm39) |
L54P |
probably damaging |
Het |
P2ry6 |
A |
G |
7: 100,587,784 (GRCm39) |
Y192H |
probably damaging |
Het |
Paxbp1 |
A |
G |
16: 90,819,555 (GRCm39) |
|
probably null |
Het |
Pign |
G |
A |
1: 105,577,092 (GRCm39) |
T197I |
probably benign |
Het |
Pirb |
A |
T |
7: 3,716,817 (GRCm39) |
|
probably null |
Het |
Pkdrej |
C |
A |
15: 85,703,122 (GRCm39) |
R938L |
possibly damaging |
Het |
Psg21 |
A |
G |
7: 18,381,128 (GRCm39) |
*472R |
probably null |
Het |
Rabgap1l |
A |
T |
1: 160,509,654 (GRCm39) |
S474R |
probably benign |
Het |
Rrn3 |
C |
T |
16: 13,628,375 (GRCm39) |
Q519* |
probably null |
Het |
Seh1l |
A |
T |
18: 67,908,188 (GRCm39) |
K37* |
probably null |
Het |
Shprh |
A |
G |
10: 11,040,449 (GRCm39) |
S641G |
probably benign |
Het |
Slc4a1 |
T |
G |
11: 102,243,403 (GRCm39) |
S743R |
probably damaging |
Het |
Snx13 |
C |
T |
12: 35,174,534 (GRCm39) |
R688* |
probably null |
Het |
Tlr11 |
C |
T |
14: 50,599,186 (GRCm39) |
Q391* |
probably null |
Het |
Tmbim4 |
A |
G |
10: 120,053,471 (GRCm39) |
H90R |
probably benign |
Het |
Trav8d-1 |
T |
C |
14: 53,016,326 (GRCm39) |
S71P |
possibly damaging |
Het |
Trbv5 |
G |
A |
6: 41,039,617 (GRCm39) |
R74Q |
probably benign |
Het |
Tril |
A |
G |
6: 53,795,921 (GRCm39) |
S434P |
probably benign |
Het |
Uhmk1 |
A |
G |
1: 170,027,570 (GRCm39) |
Y376H |
probably damaging |
Het |
Uty |
A |
G |
Y: 1,170,914 (GRCm39) |
C317R |
probably damaging |
Het |
Vmp1 |
C |
T |
11: 86,476,225 (GRCm39) |
C377Y |
probably benign |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Wdr41 |
T |
C |
13: 95,142,275 (GRCm39) |
S150P |
probably damaging |
Het |
Zfp617 |
T |
A |
8: 72,685,864 (GRCm39) |
Y65N |
probably benign |
Het |
Zfp800 |
A |
C |
6: 28,244,089 (GRCm39) |
V292G |
probably 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 |
|
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'- ACAACCCAGGAGATCCTTAGG -3'
(R):5'- TCAAAGAGCTGCAGGGTTAATG -3'
Sequencing Primer
(F):5'- CAGGAGATCCTTAGGCCTTCTGAG -3'
(R):5'- GAAGGAGATCCAGGTCTGCCTTTC -3'
|
Posted On |
2019-10-24 |