Incidental Mutation 'R9456:Itfg1'
ID |
714583 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itfg1
|
Ensembl Gene |
ENSMUSG00000031703 |
Gene Name |
integrin alpha FG-GAP repeat containing 1 |
Synonyms |
D8Wsu49e, 2310047C21Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
R9456 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
86444207-86567550 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86565566 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 90
(V90A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034140]
[ENSMUST00000053771]
[ENSMUST00000160611]
[ENSMUST00000161850]
[ENSMUST00000162464]
[ENSMUST00000162981]
|
AlphaFold |
Q99KW9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034140
AA Change: V90A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000034140 Gene: ENSMUSG00000031703 AA Change: V90A
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 |
probably benign
Transcript: ENSMUST00000053771
|
SMART Domains |
Protein: ENSMUSP00000050788 Gene: ENSMUSG00000036879
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_15
|
39 |
870 |
1.5e-111 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160611
|
SMART Domains |
Protein: ENSMUSP00000125690 Gene: ENSMUSG00000036879
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_15
|
39 |
164 |
3.5e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161850
|
SMART Domains |
Protein: ENSMUSP00000124939 Gene: ENSMUSG00000036879
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_15
|
47 |
206 |
3.9e-40 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162464
|
SMART Domains |
Protein: ENSMUSP00000125197 Gene: ENSMUSG00000036879
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_15
|
39 |
163 |
7.2e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162981
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
T |
C |
18: 10,645,121 (GRCm39) |
D391G |
probably benign |
Het |
Arhgdia |
A |
C |
11: 120,470,068 (GRCm39) |
W202G |
probably damaging |
Het |
Atp2a3 |
A |
T |
11: 72,871,131 (GRCm39) |
D575V |
probably benign |
Het |
Cep350 |
C |
A |
1: 155,744,457 (GRCm39) |
V2121L |
probably benign |
Het |
Clcn2 |
CCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGC |
16: 20,534,702 (GRCm39) |
|
probably benign |
Het |
Cldn9 |
A |
T |
17: 23,902,556 (GRCm39) |
V23E |
probably damaging |
Het |
Cltc |
G |
A |
11: 86,593,237 (GRCm39) |
S1542F |
probably benign |
Het |
Cmbl |
A |
G |
15: 31,589,948 (GRCm39) |
D226G |
probably damaging |
Het |
Dennd4b |
C |
T |
3: 90,178,515 (GRCm39) |
T537I |
probably damaging |
Het |
Dnah7b |
C |
A |
1: 46,165,953 (GRCm39) |
D539E |
possibly damaging |
Het |
Fam219a |
T |
C |
4: 41,521,871 (GRCm39) |
T70A |
probably damaging |
Het |
Fat4 |
T |
A |
3: 38,942,571 (GRCm39) |
V488E |
possibly damaging |
Het |
Gm3336 |
A |
G |
8: 71,174,740 (GRCm39) |
*96W |
probably null |
Het |
Hectd1 |
A |
G |
12: 51,832,584 (GRCm39) |
I930T |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,506,053 (GRCm39) |
C3824* |
probably null |
Het |
Ift140 |
T |
C |
17: 25,254,758 (GRCm39) |
F413L |
probably benign |
Het |
Jph4 |
A |
T |
14: 55,351,090 (GRCm39) |
W309R |
probably damaging |
Het |
Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
Klhl5 |
T |
C |
5: 65,305,939 (GRCm39) |
F302S |
probably damaging |
Het |
Klk1b8 |
T |
C |
7: 43,453,177 (GRCm39) |
M256T |
probably benign |
Het |
Klre1 |
A |
T |
6: 129,559,368 (GRCm39) |
R99S |
probably benign |
Het |
Krt79 |
T |
C |
15: 101,839,904 (GRCm39) |
T364A |
probably benign |
Het |
Lin7a |
C |
T |
10: 107,218,483 (GRCm39) |
P131L |
possibly damaging |
Het |
Lrrc49 |
A |
G |
9: 60,594,699 (GRCm39) |
Y9H |
probably benign |
Het |
Lrrc8a |
T |
A |
2: 30,145,663 (GRCm39) |
I159N |
probably damaging |
Het |
Mdga2 |
T |
C |
12: 66,615,532 (GRCm39) |
S692G |
probably benign |
Het |
Myo15a |
G |
A |
11: 60,392,668 (GRCm39) |
V1017M |
|
Het |
Nol4 |
T |
C |
18: 23,172,897 (GRCm39) |
D68G |
probably benign |
Het |
Or4f53 |
T |
C |
2: 111,088,348 (GRCm39) |
V296A |
probably benign |
Het |
Or6c75 |
T |
C |
10: 129,337,515 (GRCm39) |
V254A |
probably damaging |
Het |
Pigw |
C |
A |
11: 84,768,040 (GRCm39) |
A430S |
probably benign |
Het |
Pla2g4c |
T |
C |
7: 13,077,900 (GRCm39) |
L356P |
probably damaging |
Het |
Prorp |
T |
C |
12: 55,385,015 (GRCm39) |
V410A |
probably damaging |
Het |
Prr5 |
A |
G |
15: 84,585,682 (GRCm39) |
T226A |
probably benign |
Het |
Pygo1 |
C |
T |
9: 72,833,056 (GRCm39) |
|
probably benign |
Het |
Rnf214 |
A |
G |
9: 45,779,286 (GRCm39) |
I333T |
possibly damaging |
Het |
Septin3 |
A |
G |
15: 82,167,352 (GRCm39) |
I86V |
probably benign |
Het |
Slc30a3 |
AGGGCTTACCTGAGCGG |
AGG |
5: 31,246,889 (GRCm39) |
|
probably null |
Het |
Socs5 |
C |
A |
17: 87,442,266 (GRCm39) |
T402K |
probably damaging |
Het |
Speer3 |
T |
A |
5: 13,846,368 (GRCm39) |
N229K |
|
Het |
Stk16 |
T |
C |
1: 75,187,804 (GRCm39) |
|
probably benign |
Het |
Taar7d |
T |
A |
10: 23,903,287 (GRCm39) |
F56L |
probably benign |
Het |
Tmprss2 |
C |
T |
16: 97,392,669 (GRCm39) |
V93I |
probably benign |
Het |
Tnpo2 |
G |
A |
8: 85,774,015 (GRCm39) |
E350K |
probably benign |
Het |
Tor1aip2 |
C |
T |
1: 155,937,525 (GRCm39) |
P87S |
possibly damaging |
Het |
Trgv7 |
A |
T |
13: 19,362,385 (GRCm39) |
R25* |
probably null |
Het |
Ush2a |
A |
G |
1: 188,558,589 (GRCm39) |
E3606G |
probably benign |
Het |
Zeb1 |
C |
T |
18: 5,766,709 (GRCm39) |
Q407* |
probably null |
Het |
Zfp609 |
A |
G |
9: 65,611,125 (GRCm39) |
S613P |
|
Het |
Zfp735 |
A |
G |
11: 73,602,403 (GRCm39) |
N449S |
possibly 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 |
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 |
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'- TATAGAACAGACCCGGAGCC -3'
(R):5'- TGGCAGTGCTGTCTGACTAG -3'
Sequencing Primer
(F):5'- TTCAGGCTGATACCACAGTG -3'
(R):5'- GACTAGGTCAGAGTAAAAGCTTTC -3'
|
Posted On |
2022-06-15 |