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) question?
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

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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