Incidental Mutation 'IGL01567:Grb7'
ID |
91015 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Grb7
|
Ensembl Gene |
ENSMUSG00000019312 |
Gene Name |
growth factor receptor bound protein 7 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01567
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
98337660-98346199 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98345776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 518
(N518S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019456
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019456]
[ENSMUST00000132771]
|
AlphaFold |
Q03160 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019456
AA Change: N518S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000019456 Gene: ENSMUSG00000019312 AA Change: N518S
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
36 |
N/A |
INTRINSIC |
RA
|
99 |
185 |
1.22e-17 |
SMART |
PH
|
229 |
343 |
1.19e-11 |
SMART |
Pfam:BPS
|
368 |
415 |
3.6e-31 |
PFAM |
SH2
|
432 |
521 |
4.34e-28 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127914
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129034
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132771
|
SMART Domains |
Protein: ENSMUSP00000119926 Gene: ENSMUSG00000019312
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
36 |
N/A |
INTRINSIC |
Pfam:RA
|
99 |
138 |
6.9e-6 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133419
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156328
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with epidermal growth factor receptor (EGFR) and ephrin receptors. The protein plays a role in the integrin signaling pathway and cell migration by binding with focal adhesion kinase (FAK). Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl1 |
A |
G |
7: 76,071,628 (GRCm39) |
S317G |
probably benign |
Het |
Akna |
T |
C |
4: 63,300,087 (GRCm39) |
T652A |
probably benign |
Het |
Anxa9 |
G |
A |
3: 95,209,743 (GRCm39) |
|
probably benign |
Het |
Bpifb4 |
T |
A |
2: 153,789,198 (GRCm39) |
|
probably benign |
Het |
Bptf |
A |
G |
11: 106,949,600 (GRCm39) |
S2125P |
probably damaging |
Het |
Capns2 |
C |
A |
8: 93,628,634 (GRCm39) |
H174Q |
probably benign |
Het |
Cd200 |
A |
C |
16: 45,215,054 (GRCm39) |
L199R |
probably damaging |
Het |
Clasp2 |
T |
C |
9: 113,709,164 (GRCm39) |
V651A |
probably damaging |
Het |
Cox18 |
G |
A |
5: 90,365,447 (GRCm39) |
Q251* |
probably null |
Het |
Depdc1a |
T |
C |
3: 159,232,183 (GRCm39) |
S645P |
probably damaging |
Het |
Dio3 |
T |
A |
12: 110,245,861 (GRCm39) |
C66S |
possibly damaging |
Het |
Dock9 |
A |
T |
14: 121,890,496 (GRCm39) |
L258Q |
probably damaging |
Het |
Ghrhr |
A |
G |
6: 55,361,108 (GRCm39) |
D274G |
probably damaging |
Het |
Gm5129 |
A |
G |
5: 29,940,862 (GRCm39) |
|
probably benign |
Het |
Kdm5b |
G |
A |
1: 134,530,278 (GRCm39) |
A430T |
probably damaging |
Het |
Map10 |
C |
A |
8: 126,398,232 (GRCm39) |
Q542K |
probably benign |
Het |
Metap1 |
T |
C |
3: 138,168,150 (GRCm39) |
T325A |
probably damaging |
Het |
Ncan |
A |
T |
8: 70,560,984 (GRCm39) |
M661K |
probably benign |
Het |
Or2f1b |
T |
C |
6: 42,739,661 (GRCm39) |
I225T |
probably benign |
Het |
Or51h5 |
A |
G |
7: 102,577,623 (GRCm39) |
I263V |
probably benign |
Het |
Otog |
T |
C |
7: 45,926,039 (GRCm39) |
|
probably benign |
Het |
Pip4k2b |
T |
C |
11: 97,620,387 (GRCm39) |
D116G |
probably damaging |
Het |
Rps15 |
T |
A |
10: 80,129,643 (GRCm39) |
L86Q |
probably benign |
Het |
Sfxn4 |
G |
T |
19: 60,842,336 (GRCm39) |
T122K |
probably damaging |
Het |
Slc4a3 |
T |
C |
1: 75,527,526 (GRCm39) |
V165A |
probably damaging |
Het |
Spmip7 |
A |
G |
11: 11,465,015 (GRCm39) |
H122R |
possibly damaging |
Het |
Synm |
A |
G |
7: 67,384,980 (GRCm39) |
V452A |
probably damaging |
Het |
Tdpoz1 |
T |
C |
3: 93,578,013 (GRCm39) |
H257R |
possibly damaging |
Het |
Tmem26 |
A |
G |
10: 68,587,061 (GRCm39) |
T170A |
probably damaging |
Het |
Wdfy4 |
T |
G |
14: 32,873,618 (GRCm39) |
E230D |
probably benign |
Het |
|
Other mutations in Grb7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01366:Grb7
|
APN |
11 |
98,343,100 (GRCm39) |
unclassified |
probably benign |
|
IGL01958:Grb7
|
APN |
11 |
98,345,480 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03115:Grb7
|
APN |
11 |
98,341,945 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4458001:Grb7
|
UTSW |
11 |
98,344,655 (GRCm39) |
nonsense |
probably null |
|
R0455:Grb7
|
UTSW |
11 |
98,343,014 (GRCm39) |
missense |
probably benign |
0.00 |
R0586:Grb7
|
UTSW |
11 |
98,344,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R0942:Grb7
|
UTSW |
11 |
98,344,634 (GRCm39) |
missense |
probably damaging |
0.97 |
R2960:Grb7
|
UTSW |
11 |
98,343,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R3981:Grb7
|
UTSW |
11 |
98,345,391 (GRCm39) |
unclassified |
probably benign |
|
R4194:Grb7
|
UTSW |
11 |
98,345,881 (GRCm39) |
unclassified |
probably benign |
|
R4809:Grb7
|
UTSW |
11 |
98,342,262 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6033:Grb7
|
UTSW |
11 |
98,346,023 (GRCm39) |
splice site |
probably null |
|
R7120:Grb7
|
UTSW |
11 |
98,345,817 (GRCm39) |
missense |
probably benign |
|
R9280:Grb7
|
UTSW |
11 |
98,345,248 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Grb7
|
UTSW |
11 |
98,345,310 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Grb7
|
UTSW |
11 |
98,344,797 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2013-12-09 |