Incidental Mutation 'R2876:Itfg1'
| ID |
260560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itfg1
|
| Ensembl Gene |
ENSMUSG00000031703 |
| Gene Name |
integrin alpha FG-GAP repeat containing 1 |
| Synonyms |
D8Wsu49e, 2310047C21Rik |
| MMRRC Submission |
040464-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R2876 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
86444207-86567550 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 86507139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034140]
|
| AlphaFold |
Q99KW9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034140
|
| SMART Domains |
Protein: ENSMUSP00000034140
Gene: ENSMUSG00000031703
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
95% (42/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
C |
A |
12: 18,583,644 (GRCm39) |
Q235K |
possibly damaging |
Het |
| Abcc1 |
A |
T |
16: 14,275,824 (GRCm39) |
H906L |
probably benign |
Het |
| Acot6 |
T |
G |
12: 84,148,036 (GRCm39) |
D97E |
possibly damaging |
Het |
| Acvr2a |
T |
A |
2: 48,782,190 (GRCm39) |
M241K |
probably damaging |
Het |
| Adamts9 |
T |
C |
6: 92,772,891 (GRCm39) |
|
probably benign |
Het |
| Adgb |
T |
G |
10: 10,298,463 (GRCm39) |
T422P |
probably damaging |
Het |
| Adrm1 |
A |
G |
2: 179,817,411 (GRCm39) |
T293A |
probably damaging |
Het |
| Ankfn1 |
A |
G |
11: 89,282,462 (GRCm39) |
V395A |
possibly damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,835,607 (GRCm39) |
M451V |
probably damaging |
Het |
| Ccdc152 |
T |
C |
15: 3,327,663 (GRCm39) |
N38S |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,143,275 (GRCm39) |
N3017K |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,390,841 (GRCm39) |
M997T |
probably benign |
Het |
| Gcc2 |
A |
G |
10: 58,126,124 (GRCm39) |
E1344G |
probably damaging |
Het |
| Gen1 |
A |
C |
12: 11,292,069 (GRCm39) |
S573R |
probably benign |
Het |
| Ilvbl |
C |
A |
10: 78,418,890 (GRCm39) |
Q410K |
probably benign |
Het |
| Ints11 |
C |
A |
4: 155,971,882 (GRCm39) |
|
probably benign |
Het |
| Lrrc27 |
C |
T |
7: 138,808,600 (GRCm39) |
|
probably benign |
Het |
| Maml3 |
G |
A |
3: 51,597,480 (GRCm39) |
A422V |
possibly damaging |
Het |
| Masp2 |
T |
A |
4: 148,692,458 (GRCm39) |
I317K |
probably benign |
Het |
| Or13n4 |
A |
T |
7: 106,423,664 (GRCm39) |
V23E |
probably benign |
Het |
| Or2ag18 |
C |
G |
7: 106,405,204 (GRCm39) |
S155T |
probably benign |
Het |
| Or5g26 |
A |
G |
2: 85,494,034 (GRCm39) |
V248A |
probably damaging |
Het |
| Papln |
T |
A |
12: 83,825,701 (GRCm39) |
S661T |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,185,414 (GRCm39) |
S229P |
possibly damaging |
Het |
| Piezo2 |
A |
G |
18: 63,186,106 (GRCm39) |
S1688P |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,468,513 (GRCm39) |
T1005A |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,490,417 (GRCm39) |
V128A |
probably benign |
Het |
| Rhbdd1 |
A |
G |
1: 82,346,090 (GRCm39) |
D215G |
probably benign |
Het |
| Rnft2 |
G |
A |
5: 118,331,686 (GRCm39) |
R417C |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,546,241 (GRCm39) |
I935L |
possibly damaging |
Het |
| Sdc4 |
T |
C |
2: 164,273,211 (GRCm39) |
D33G |
possibly damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,505,582 (GRCm39) |
S454P |
probably damaging |
Het |
| Spidr |
A |
T |
16: 15,730,453 (GRCm39) |
|
probably null |
Het |
| Srp72 |
T |
A |
5: 77,143,767 (GRCm39) |
|
probably benign |
Het |
| Ttll4 |
A |
G |
1: 74,725,597 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,750,684 (GRCm39) |
S3455N |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,852,356 (GRCm39) |
E868V |
probably damaging |
Het |
| Vmn2r89 |
G |
T |
14: 51,692,541 (GRCm39) |
G115C |
possibly damaging |
Het |
| Zbed6 |
C |
T |
1: 133,584,598 (GRCm39) |
C913Y |
probably damaging |
Het |
| Zscan29 |
T |
C |
2: 120,994,581 (GRCm39) |
Y468C |
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 |
|
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 |
|
R5146:Itfg1
|
UTSW |
8 |
86,445,497 (GRCm39) |
makesense |
probably null |
|
|
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'- CAGTGGACCTGATGCTTAACTAG -3'
(R):5'- GCTGGGAACAACTGTTTCTGAC -3'
Sequencing Primer
(F):5'- TTAACTAGCACTTCAGCATTCAGC -3'
(R):5'- CTGGGAACAACTGTTTCTGACAATAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation