Incidental Mutation 'R8674:Nck1'
| ID |
661305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nck1
|
| Ensembl Gene |
ENSMUSG00000032475 |
| Gene Name |
non-catalytic region of tyrosine kinase adaptor protein 1 |
| Synonyms |
6330586M15Rik, Nck, D230010O13Rik |
| MMRRC Submission |
068529-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8674 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
100376047-100428187 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100390580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 43
(N43S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112874]
[ENSMUST00000116522]
[ENSMUST00000186591]
[ENSMUST00000188670]
|
| AlphaFold |
Q99M51 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112874
|
| SMART Domains |
Protein: ENSMUSP00000108495
Gene: ENSMUSG00000032475
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
45 |
100 |
3.58e-18 |
SMART |
|
SH3
|
129 |
187 |
2.65e-21 |
SMART |
|
SH2
|
216 |
298 |
1.6e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116522
AA Change: N43S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112221
Gene: ENSMUSG00000032475
AA Change: N43S
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
5 |
60 |
3.99e-16 |
SMART |
|
SH3
|
109 |
164 |
3.58e-18 |
SMART |
|
SH3
|
193 |
251 |
2.65e-21 |
SMART |
|
SH2
|
280 |
362 |
1.6e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186591
AA Change: N43S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140971
Gene: ENSMUSG00000032475
AA Change: N43S
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
5 |
60 |
2.5e-18 |
SMART |
|
SH3
|
109 |
164 |
2.2e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188670
AA Change: N43S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140143
Gene: ENSMUSG00000032475
AA Change: N43S
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
5 |
60 |
2.5e-18 |
SMART |
|
PDB:2CUB|A
|
99 |
132 |
2e-17 |
PDB |
|
Blast:SH3
|
109 |
132 |
2e-8 |
BLAST |
|
| Meta Mutation Damage Score |
0.1328 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the signaling and transforming proteins containing Src homology 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein involved in transducing signals from receptor tyrosine kinases to downstream signal recipients such as RAS. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for disruption of this gene display no abnormal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
T |
C |
12: 72,956,696 (GRCm39) |
I165V |
probably benign |
Het |
| Adgrg1 |
A |
T |
8: 95,727,526 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,983,360 (GRCm39) |
I1548T |
probably damaging |
Het |
| Alox12b |
A |
G |
11: 69,054,801 (GRCm39) |
Y268C |
possibly damaging |
Het |
| Chd8 |
T |
C |
14: 52,450,463 (GRCm39) |
D1465G |
probably damaging |
Het |
| Csgalnact1 |
A |
G |
8: 68,826,268 (GRCm39) |
V350A |
possibly damaging |
Het |
| Cyp4a29 |
A |
T |
4: 115,106,882 (GRCm39) |
I180F |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,740,896 (GRCm39) |
D1294E |
probably damaging |
Het |
| Defb47 |
T |
C |
14: 63,235,579 (GRCm39) |
L10P |
possibly damaging |
Het |
| Gpr179 |
T |
C |
11: 97,225,873 (GRCm39) |
E2094G |
probably benign |
Het |
| Gtse1 |
C |
A |
15: 85,746,376 (GRCm39) |
P64Q |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,376,048 (GRCm39) |
V538A |
probably benign |
Het |
| Hmgxb3 |
G |
A |
18: 61,269,303 (GRCm39) |
S993L |
probably benign |
Het |
| Lgals8 |
A |
T |
13: 12,462,117 (GRCm39) |
F238I |
probably damaging |
Het |
| Ltn1 |
A |
C |
16: 87,195,673 (GRCm39) |
D1284E |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,705,257 (GRCm39) |
E1925G |
probably damaging |
Het |
| Nsun5 |
C |
A |
5: 135,400,394 (GRCm39) |
T145N |
probably damaging |
Het |
| Or10d1 |
T |
C |
9: 39,484,249 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or10d3 |
A |
G |
9: 39,461,675 (GRCm39) |
F164S |
probably damaging |
Het |
| Or10x4 |
A |
G |
1: 174,219,258 (GRCm39) |
T208A |
probably damaging |
Het |
| Or4c103 |
T |
A |
2: 88,513,774 (GRCm39) |
T101S |
probably benign |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,562,720 (GRCm39) |
E563G |
probably damaging |
Het |
| Pramel42 |
T |
C |
5: 94,685,605 (GRCm39) |
C422R |
probably damaging |
Het |
| Rab11fip5 |
T |
A |
6: 85,318,910 (GRCm39) |
M660L |
probably benign |
Het |
| Rbm47 |
T |
A |
5: 66,176,742 (GRCm39) |
N527I |
possibly damaging |
Het |
| Rpl12 |
T |
A |
2: 32,852,122 (GRCm39) |
|
probably benign |
Het |
| Slc22a14 |
C |
A |
9: 119,007,467 (GRCm39) |
W314L |
probably null |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Sphkap |
A |
G |
1: 83,255,565 (GRCm39) |
V728A |
probably benign |
Het |
| Spint4 |
T |
A |
2: 164,542,902 (GRCm39) |
|
probably null |
Het |
| Sptbn1 |
A |
G |
11: 30,089,352 (GRCm39) |
S637P |
possibly damaging |
Het |
| Trpm7 |
T |
C |
2: 126,641,086 (GRCm39) |
|
probably benign |
Het |
| Trrap |
C |
T |
5: 144,727,842 (GRCm39) |
T521I |
probably benign |
Het |
| Vmn2r44 |
T |
C |
7: 8,380,822 (GRCm39) |
Y357C |
probably damaging |
Het |
| Vwa2 |
A |
G |
19: 56,875,427 (GRCm39) |
D82G |
possibly damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,785,540 (GRCm39) |
I424T |
probably benign |
Het |
| Zmiz1 |
A |
G |
14: 25,647,410 (GRCm39) |
I409M |
probably benign |
Het |
| Zscan18 |
T |
C |
7: 12,504,827 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nck1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:Nck1
|
APN |
9 |
100,379,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Nck1
|
APN |
9 |
100,379,440 (GRCm39) |
missense |
probably benign |
|
|
IGL02711:Nck1
|
APN |
9 |
100,390,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cuchillo
|
UTSW |
9 |
100,379,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Tenedor
|
UTSW |
9 |
100,390,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Nck1
|
UTSW |
9 |
100,379,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Nck1
|
UTSW |
9 |
100,379,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1549:Nck1
|
UTSW |
9 |
100,379,925 (GRCm39) |
missense |
probably benign |
|
|
R2128:Nck1
|
UTSW |
9 |
100,379,600 (GRCm39) |
splice site |
probably null |
|
|
R2314:Nck1
|
UTSW |
9 |
100,380,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4744:Nck1
|
UTSW |
9 |
100,388,797 (GRCm39) |
missense |
probably benign |
|
|
R8178:Nck1
|
UTSW |
9 |
100,379,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Nck1
|
UTSW |
9 |
100,377,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9513:Nck1
|
UTSW |
9 |
100,379,369 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGCTGTTGTAACAAGGTC -3'
(R):5'- ATGTAGACAATTACACTTCAGCACC -3'
Sequencing Primer
(F):5'- AGAGTACTGACTGCTCTTCCAGAG -3'
(R):5'- CTTCAGCACCATTTAAAACATGTTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation