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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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