Incidental Mutation 'R5796:Itfg1'
ID 447234
Institutional Source Beutler Lab
Gene Symbol Itfg1
Ensembl Gene ENSMUSG00000031703
Gene Name integrin alpha FG-GAP repeat containing 1
Synonyms D8Wsu49e, 2310047C21Rik
MMRRC Submission 043387-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R5796 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 86444207-86567550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86445522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 603 (H603L)
Ref Sequence ENSEMBL: ENSMUSP00000034140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034140]
AlphaFold Q99KW9
Predicted Effect probably damaging
Transcript: ENSMUST00000034140
AA Change: H603L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034140
Gene: ENSMUSG00000031703
AA Change: H603L

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
Meta Mutation Damage Score 0.7626 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 93% (51/55)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,215,077 (GRCm39) T9A possibly damaging Het
Abcd3 G A 3: 121,578,147 (GRCm39) R160W probably damaging Het
Ap3d1 G T 10: 80,549,871 (GRCm39) T758K possibly damaging Het
Ate1 T C 7: 130,068,998 (GRCm39) Y423C probably damaging Het
Bsn C T 9: 108,003,223 (GRCm39) G394D probably damaging Het
Cacna1d T C 14: 29,788,073 (GRCm39) D1599G probably damaging Het
Cd33 A G 7: 43,182,480 (GRCm39) probably null Het
Chct1 A G 11: 85,064,101 (GRCm39) T81A probably null Het
Col12a1 T C 9: 79,611,111 (GRCm39) N154D possibly damaging Het
Crocc TCTGAGCTGCTGAGCTGC TCTGAGCTGC 4: 140,769,118 (GRCm39) probably null Het
Cts3 A T 13: 61,716,517 (GRCm39) Y40N probably damaging Het
Cyfip2 T C 11: 46,089,823 (GRCm39) N1197D probably benign Het
Dclre1b G A 3: 103,714,773 (GRCm39) Q77* probably null Het
Dsc3 T A 18: 20,104,558 (GRCm39) M590L probably benign Het
Efcab14 A T 4: 115,603,780 (GRCm39) I153F probably damaging Het
Fbxo42 T C 4: 140,927,100 (GRCm39) V460A probably benign Het
Fgl1 T G 8: 41,652,796 (GRCm39) probably benign Het
Gbf1 T C 19: 46,272,782 (GRCm39) S1697P probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm15056 C A 8: 21,391,998 (GRCm39) probably benign Het
Gm17409 T A 2: 58,361,034 (GRCm39) probably benign Het
Gm20730 A G 6: 43,058,464 (GRCm39) L116P probably damaging Het
Grb2 T G 11: 115,536,698 (GRCm39) H184P probably benign Het
Hepacam2 G C 6: 3,466,200 (GRCm39) probably null Het
Hsd3b9 A T 3: 98,354,168 (GRCm39) D110E probably benign Het
Igkv4-55 T A 6: 69,584,432 (GRCm39) K60M possibly damaging Het
Katna1 C A 10: 7,636,575 (GRCm39) D366E probably damaging Het
Klk1b26 A G 7: 43,665,752 (GRCm39) Y188C probably damaging Het
Ldhd T C 8: 112,353,722 (GRCm39) T464A probably benign Het
Muc5b T C 7: 141,411,133 (GRCm39) S1360P unknown Het
Nckipsd T G 9: 108,688,813 (GRCm39) V116G probably benign Het
Nhsl1 C T 10: 18,399,998 (GRCm39) S374L probably benign Het
Oxt G A 2: 130,418,533 (GRCm39) G48D probably damaging Het
Pramel21 A G 4: 143,341,778 (GRCm39) N69S probably benign Het
Ptprk C T 10: 28,259,571 (GRCm39) T337I probably damaging Het
Rad54b A T 4: 11,615,446 (GRCm39) D818V probably benign Het
Rbpjl T C 2: 164,252,168 (GRCm39) probably benign Het
Recql5 T A 11: 115,818,691 (GRCm39) probably benign Het
Robo4 A T 9: 37,322,970 (GRCm39) D830V probably benign Het
Rps6kb1 C T 11: 86,402,677 (GRCm39) G339S probably benign Het
Rtel1 G A 2: 180,982,299 (GRCm39) E350K probably benign Het
Rtn3 A G 19: 7,434,832 (GRCm39) S368P possibly damaging Het
Smad5 A G 13: 56,871,645 (GRCm39) H80R probably damaging Het
Sppl2c T A 11: 104,078,619 (GRCm39) M473K probably benign Het
Tbrg1 A G 9: 37,563,871 (GRCm39) probably benign Het
Tcf7 A G 11: 52,152,354 (GRCm39) I65T probably benign Het
Tgm2 T C 2: 157,960,824 (GRCm39) D618G probably benign Het
Tuba3b C T 6: 145,565,408 (GRCm39) T292I probably damaging Het
Vmn1r63 G A 7: 5,806,140 (GRCm39) S164L probably benign Het
Zfp382 A G 7: 29,832,774 (GRCm39) K142E probably damaging Het
Zmym3 G A X: 100,459,406 (GRCm39) P308L probably benign 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
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
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'- ACAGACTTTATGAGATATTCAGGCC -3'
(R):5'- AGCATCAGTGTTAATAGCGATTCTG -3'

Sequencing Primer
(F):5'- CCAATAATTGACAAGGAAGG -3'
(R):5'- AATGTTTACTCTCACCTTCAAGTTGG -3'
Posted On 2016-12-15