Incidental Mutation 'R5146:Itfg1'
| ID |
395116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itfg1
|
| Ensembl Gene |
ENSMUSG00000031703 |
| Gene Name |
integrin alpha FG-GAP repeat containing 1 |
| Synonyms |
D8Wsu49e, 2310047C21Rik |
| MMRRC Submission |
042730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R5146 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
86444207-86567550 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 86445497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 611
(*611W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034140]
|
| AlphaFold |
Q99KW9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034140
AA Change: *611W
|
| SMART Domains |
Protein: ENSMUSP00000034140
Gene: ENSMUSG00000031703
AA Change: *611W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
SCOP:d1m1xa4
|
46 |
232 |
5e-3 |
SMART |
|
low complexity region
|
482 |
496 |
N/A |
INTRINSIC |
|
transmembrane domain
|
564 |
586 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9578 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,289,799 (GRCm39) |
D1498G |
possibly damaging |
Het |
| Adcyap1r1 |
A |
G |
6: 55,461,957 (GRCm39) |
I329V |
probably benign |
Het |
| Ahnak2 |
A |
C |
12: 112,742,160 (GRCm39) |
H637Q |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,734,636 (GRCm39) |
D455G |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 109,922,042 (GRCm39) |
T45A |
probably damaging |
Het |
| Chil4 |
T |
A |
3: 106,110,150 (GRCm39) |
T315S |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,320,842 (GRCm39) |
V138A |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,246,204 (GRCm39) |
D1065G |
probably damaging |
Het |
| Cspp1 |
C |
T |
1: 10,145,101 (GRCm39) |
R296* |
probably null |
Het |
| Dnah17 |
A |
G |
11: 118,005,005 (GRCm39) |
M793T |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,699,491 (GRCm39) |
|
probably null |
Het |
| Fgfr4 |
G |
T |
13: 55,313,725 (GRCm39) |
L511F |
probably damaging |
Het |
| Gm14415 |
T |
C |
2: 176,796,024 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
A |
G |
19: 55,082,378 (GRCm39) |
V91A |
probably damaging |
Het |
| Grin2b |
T |
A |
6: 135,756,340 (GRCm39) |
I462F |
probably damaging |
Het |
| Grwd1 |
A |
T |
7: 45,477,258 (GRCm39) |
F210I |
probably damaging |
Het |
| H2-T9 |
A |
G |
17: 36,439,907 (GRCm39) |
W76R |
probably damaging |
Het |
| Kcna2 |
T |
C |
3: 107,012,814 (GRCm39) |
V465A |
probably benign |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Myo15b |
A |
G |
11: 115,782,024 (GRCm39) |
T1444A |
probably benign |
Het |
| Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
| Oas1c |
A |
G |
5: 120,940,159 (GRCm39) |
S336P |
probably benign |
Het |
| Pirb |
T |
C |
7: 3,715,620 (GRCm39) |
|
probably benign |
Het |
| Pot1b |
A |
T |
17: 55,979,865 (GRCm39) |
Y330* |
probably null |
Het |
| Rnf20 |
A |
T |
4: 49,651,456 (GRCm39) |
M641L |
probably benign |
Het |
| Sppl2b |
T |
C |
10: 80,703,474 (GRCm39) |
*579Q |
probably null |
Het |
| Sumf1 |
G |
A |
6: 108,162,271 (GRCm39) |
P83S |
probably benign |
Het |
| Tmem101 |
C |
T |
11: 102,045,450 (GRCm39) |
R133Q |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,700,707 (GRCm39) |
|
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,221,971 (GRCm39) |
Y750H |
probably damaging |
Het |
| Zfp873 |
A |
G |
10: 81,896,058 (GRCm39) |
Y300C |
probably damaging |
Het |
|
| Other mutations in Itfg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02579:Itfg1
|
APN |
8 |
86,507,194 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02803:Itfg1
|
APN |
8 |
86,452,140 (GRCm39) |
splice site |
probably null |
|
|
R0368:Itfg1
|
UTSW |
8 |
86,491,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0755:Itfg1
|
UTSW |
8 |
86,452,834 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1183:Itfg1
|
UTSW |
8 |
86,507,152 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1529:Itfg1
|
UTSW |
8 |
86,537,243 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1789:Itfg1
|
UTSW |
8 |
86,452,141 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1953:Itfg1
|
UTSW |
8 |
86,557,860 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2206:Itfg1
|
UTSW |
8 |
86,502,827 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2207:Itfg1
|
UTSW |
8 |
86,502,827 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2260:Itfg1
|
UTSW |
8 |
86,449,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2358:Itfg1
|
UTSW |
8 |
86,464,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2876:Itfg1
|
UTSW |
8 |
86,507,139 (GRCm39) |
splice site |
probably benign |
|
|
R2990:Itfg1
|
UTSW |
8 |
86,561,678 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4484:Itfg1
|
UTSW |
8 |
86,452,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4762:Itfg1
|
UTSW |
8 |
86,459,070 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5796:Itfg1
|
UTSW |
8 |
86,445,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5805:Itfg1
|
UTSW |
8 |
86,493,601 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6084:Itfg1
|
UTSW |
8 |
86,452,799 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6187:Itfg1
|
UTSW |
8 |
86,563,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6319:Itfg1
|
UTSW |
8 |
86,567,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6463:Itfg1
|
UTSW |
8 |
86,462,780 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6490:Itfg1
|
UTSW |
8 |
86,466,930 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6492:Itfg1
|
UTSW |
8 |
86,466,978 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6588:Itfg1
|
UTSW |
8 |
86,462,759 (GRCm39) |
missense |
probably benign |
|
|
R6753:Itfg1
|
UTSW |
8 |
86,561,707 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7489:Itfg1
|
UTSW |
8 |
86,493,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7665:Itfg1
|
UTSW |
8 |
86,490,979 (GRCm39) |
missense |
probably benign |
|
|
R7912:Itfg1
|
UTSW |
8 |
86,490,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7985:Itfg1
|
UTSW |
8 |
86,452,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Itfg1
|
UTSW |
8 |
86,567,420 (GRCm39) |
unclassified |
probably benign |
|
|
R8928:Itfg1
|
UTSW |
8 |
86,567,420 (GRCm39) |
unclassified |
probably benign |
|
|
R9080:Itfg1
|
UTSW |
8 |
86,466,874 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9456:Itfg1
|
UTSW |
8 |
86,565,566 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9513:Itfg1
|
UTSW |
8 |
86,490,875 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9577:Itfg1
|
UTSW |
8 |
86,502,798 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9761:Itfg1
|
UTSW |
8 |
86,563,031 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0067:Itfg1
|
UTSW |
8 |
86,567,382 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACACAAATGCTCAGTGCTGC -3'
(R):5'- ATGTTTACTCTCACCTTCAAGTTGG -3'
Sequencing Primer
(F):5'- GCTCAGTGCTGCTAAATTAAGAACC -3'
(R):5'- TCTCACCTTCAAGTTGGTTATAAATG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation