Incidental Mutation 'R6588:Itfg1'
ID |
527420 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itfg1
|
Ensembl Gene |
ENSMUSG00000031703 |
Gene Name |
integrin alpha FG-GAP repeat containing 1 |
Synonyms |
D8Wsu49e, 2310047C21Rik |
MMRRC Submission |
044712-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R6588 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
86444207-86567550 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86462759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 455
(I455V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034140]
|
AlphaFold |
Q99KW9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034140
AA Change: I455V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034140 Gene: ENSMUSG00000031703 AA Change: I455V
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: ENSMUST00000210133
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210572
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210912
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,340,766 (GRCm39) |
S132P |
probably benign |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Homo |
Clcn3 |
T |
C |
8: 61,367,861 (GRCm39) |
I763V |
probably benign |
Het |
Cpsf1 |
A |
G |
15: 76,481,022 (GRCm39) |
Y1254H |
probably damaging |
Het |
Erc1 |
C |
T |
6: 119,552,687 (GRCm39) |
A1088T |
possibly damaging |
Het |
Fhl4 |
A |
G |
10: 84,933,971 (GRCm39) |
V270A |
possibly damaging |
Het |
Ghr |
T |
C |
15: 3,349,750 (GRCm39) |
E476G |
probably benign |
Het |
Ighv1-84 |
T |
A |
12: 115,944,371 (GRCm39) |
Q101L |
probably benign |
Het |
Kitl |
T |
A |
10: 99,899,954 (GRCm39) |
N86K |
probably damaging |
Het |
Kmt2c |
C |
T |
5: 25,528,787 (GRCm39) |
G1614E |
probably damaging |
Het |
Lrrd1 |
A |
G |
5: 3,901,386 (GRCm39) |
S564G |
probably benign |
Het |
Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
Macroh2a1 |
C |
T |
13: 56,252,302 (GRCm39) |
G97D |
possibly damaging |
Het |
Mms19 |
C |
T |
19: 41,954,715 (GRCm39) |
R68Q |
probably damaging |
Het |
Or10aa1 |
G |
T |
1: 173,869,844 (GRCm39) |
M109I |
probably benign |
Het |
Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
Or7e173 |
G |
T |
9: 19,939,162 (GRCm39) |
P24Q |
probably damaging |
Het |
Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
Zfp64 |
A |
T |
2: 168,768,827 (GRCm39) |
C262S |
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 |
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 |
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'- CTAGCAATTTCCTTGAGTAAGACAG -3'
(R):5'- ATTGGAGATCATGAGTCAGTGGATG -3'
Sequencing Primer
(F):5'- GCACCATGTGTATACAGTTCCTGAG -3'
(R):5'- GCAGGGAGAGATAGATCTT -3'
|
Posted On |
2018-07-23 |