Incidental Mutation 'R5805:Itfg1'
ID |
448452 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itfg1
|
Ensembl Gene |
ENSMUSG00000031703 |
Gene Name |
integrin alpha FG-GAP repeat containing 1 |
Synonyms |
D8Wsu49e, 2310047C21Rik |
MMRRC Submission |
043212-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R5805 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
86444207-86567550 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 86493601 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 293
(S293T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034140]
|
AlphaFold |
Q99KW9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034140
AA Change: S293T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000034140 Gene: ENSMUSG00000031703 AA Change: S293T
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210912
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
C |
T |
11: 110,170,216 (GRCm39) |
C1293Y |
probably benign |
Het |
Adam8 |
T |
A |
7: 139,565,794 (GRCm39) |
D611V |
probably damaging |
Het |
Arhgap33 |
T |
C |
7: 30,225,839 (GRCm39) |
T576A |
probably benign |
Het |
Atf7 |
A |
T |
15: 102,466,022 (GRCm39) |
|
probably null |
Het |
Baiap3 |
T |
A |
17: 25,466,489 (GRCm39) |
T464S |
probably benign |
Het |
Ccdc40 |
T |
C |
11: 119,136,906 (GRCm39) |
|
probably null |
Het |
Celf2 |
T |
C |
2: 6,558,598 (GRCm39) |
E430G |
probably damaging |
Het |
Chia1 |
A |
G |
3: 106,035,792 (GRCm39) |
T211A |
probably damaging |
Het |
Ciz1 |
T |
C |
2: 32,257,408 (GRCm39) |
F151S |
probably damaging |
Het |
Dnm2 |
A |
G |
9: 21,378,965 (GRCm39) |
T175A |
probably damaging |
Het |
Doc2b |
A |
G |
11: 75,663,364 (GRCm39) |
S363P |
probably damaging |
Het |
Garem1 |
C |
T |
18: 21,281,492 (GRCm39) |
R288H |
probably benign |
Het |
Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
Helz2 |
C |
A |
2: 180,882,301 (GRCm39) |
C164F |
probably damaging |
Het |
Kcnn2 |
T |
A |
18: 45,816,198 (GRCm39) |
D336E |
probably damaging |
Het |
Kifc2 |
C |
T |
15: 76,546,353 (GRCm39) |
A245V |
probably benign |
Het |
Krt18 |
T |
A |
15: 101,939,735 (GRCm39) |
I311N |
probably benign |
Het |
Lypla1 |
T |
C |
1: 4,900,517 (GRCm39) |
M7T |
possibly damaging |
Het |
Mef2a |
T |
C |
7: 66,901,416 (GRCm39) |
M285V |
possibly damaging |
Het |
Micu1 |
A |
C |
10: 59,663,128 (GRCm39) |
K353Q |
possibly damaging |
Het |
Mpv17l |
A |
G |
16: 13,760,013 (GRCm39) |
|
probably benign |
Het |
Ntrk1 |
G |
A |
3: 87,687,479 (GRCm39) |
R652W |
probably damaging |
Het |
Or13a28 |
T |
A |
7: 140,218,384 (GRCm39) |
F257I |
probably benign |
Het |
Or13c7 |
T |
C |
4: 43,855,152 (GRCm39) |
I281T |
probably benign |
Het |
Or4c107 |
G |
A |
2: 88,788,985 (GRCm39) |
M58I |
possibly damaging |
Het |
Pcdh15 |
C |
A |
10: 74,066,091 (GRCm39) |
T252K |
probably damaging |
Het |
Pcsk5 |
T |
C |
19: 17,434,193 (GRCm39) |
M1392V |
probably benign |
Het |
Phf20 |
T |
A |
2: 156,149,214 (GRCm39) |
V964E |
probably damaging |
Het |
Pira13 |
G |
A |
7: 3,825,622 (GRCm39) |
L416F |
probably benign |
Het |
Plcg2 |
T |
C |
8: 118,325,234 (GRCm39) |
|
probably null |
Het |
Rnf10 |
A |
T |
5: 115,382,127 (GRCm39) |
C693S |
probably benign |
Het |
Rnf19b |
A |
G |
4: 128,952,617 (GRCm39) |
Y185C |
probably damaging |
Het |
Ros1 |
G |
T |
10: 51,999,385 (GRCm39) |
D1167E |
probably damaging |
Het |
Sidt2 |
G |
A |
9: 45,853,497 (GRCm39) |
S701L |
probably damaging |
Het |
Slc66a2 |
C |
T |
18: 80,306,658 (GRCm39) |
P76L |
probably damaging |
Het |
Spag1 |
T |
C |
15: 36,200,430 (GRCm39) |
I345T |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,141,211 (GRCm39) |
S1603T |
possibly damaging |
Het |
Stag1 |
T |
A |
9: 100,678,831 (GRCm39) |
Y251N |
probably damaging |
Het |
Stxbp5 |
T |
C |
10: 9,776,330 (GRCm39) |
N33S |
probably benign |
Het |
Tnrc6a |
T |
C |
7: 122,769,299 (GRCm39) |
L363P |
probably damaging |
Het |
U2surp |
C |
T |
9: 95,361,357 (GRCm39) |
R591H |
possibly damaging |
Het |
Usf3 |
A |
G |
16: 44,041,109 (GRCm39) |
N1863S |
possibly damaging |
Het |
Vmn2r15 |
T |
C |
5: 109,434,806 (GRCm39) |
I633V |
possibly damaging |
Het |
Zfp979 |
T |
C |
4: 147,698,067 (GRCm39) |
D214G |
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 |
R5146:Itfg1
|
UTSW |
8 |
86,445,497 (GRCm39) |
makesense |
probably null |
|
R5796:Itfg1
|
UTSW |
8 |
86,445,522 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GCATTTTCTACCTCAGTAGCAC -3'
(R):5'- CAGCCCTGTGTCAAGTTGTTTG -3'
Sequencing Primer
(F):5'- CATTTTCTACCTCAGTAGCACAAAAG -3'
(R):5'- CAAGTTGTTTGGTGTTATCCAGAC -3'
|
Posted On |
2016-12-15 |