Incidental Mutation 'R2960:Grb7'
| ID |
255887 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2960 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98337660-98346199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 98343087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 268
(T268I)
|
| 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: T268I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019456
Gene: ENSMUSG00000019312
AA Change: T268I
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl5c |
A |
G |
11: 97,885,902 (GRCm39) |
L33P |
probably damaging |
Het |
| Auh |
A |
T |
13: 52,993,610 (GRCm39) |
I268N |
probably damaging |
Het |
| Cimap2 |
A |
G |
4: 106,470,615 (GRCm39) |
S186P |
probably damaging |
Het |
| Defa25 |
A |
T |
8: 21,575,273 (GRCm39) |
H84L |
probably benign |
Het |
| Endou |
T |
C |
15: 97,611,687 (GRCm39) |
Y317C |
probably damaging |
Het |
| Fmn2 |
C |
T |
1: 174,437,385 (GRCm39) |
L1119F |
probably damaging |
Het |
| Glyat |
T |
A |
19: 12,617,214 (GRCm39) |
L22H |
probably damaging |
Het |
| Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
| Ints15 |
A |
T |
5: 143,293,776 (GRCm39) |
F234I |
probably benign |
Het |
| Itfg2 |
G |
A |
6: 128,390,515 (GRCm39) |
A190V |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Mdga2 |
G |
T |
12: 66,676,752 (GRCm39) |
Y513* |
probably null |
Het |
| Med8 |
A |
G |
4: 118,271,944 (GRCm39) |
T222A |
probably damaging |
Het |
| Nup43 |
T |
C |
10: 7,546,713 (GRCm39) |
V111A |
probably benign |
Het |
| Or9s14 |
A |
G |
1: 92,536,050 (GRCm39) |
I164V |
probably benign |
Het |
| Rfx3 |
G |
A |
19: 27,878,211 (GRCm39) |
Q29* |
probably null |
Het |
| Rfx8 |
A |
G |
1: 39,722,112 (GRCm39) |
V291A |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,299,256 (GRCm39) |
Y112C |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmx3 |
T |
C |
18: 90,551,116 (GRCm39) |
V252A |
probably damaging |
Het |
| Vmn1r216 |
A |
G |
13: 23,284,103 (GRCm39) |
D262G |
probably benign |
Het |
| Vmn1r9 |
A |
G |
6: 57,048,657 (GRCm39) |
D244G |
possibly damaging |
Het |
| Xkr6 |
T |
A |
14: 63,844,586 (GRCm39) |
M203K |
possibly damaging |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
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 |
|
|
IGL01567:Grb7
|
APN |
11 |
98,345,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTCATTCCCGGTGCAG -3'
(R):5'- CCTGGGGTAGGTTTGCCAAG -3'
Sequencing Primer
(F):5'- AGGAGGCTGGCCCTTCATAC -3'
(R):5'- AGGTTTGCCAAGTGGGATG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation