Incidental Mutation 'R9200:Itga1'
ID 698189
Institutional Source Beutler Lab
Gene Symbol Itga1
Ensembl Gene ENSMUSG00000042284
Gene Name integrin alpha 1
Synonyms E130012M19Rik, CD49A, Vla1
MMRRC Submission 068957-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # R9200 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 115094615-115238500 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115104997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1059 (I1059N)
Ref Sequence ENSEMBL: ENSMUSP00000077132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061673]
AlphaFold Q3V3R4
Predicted Effect possibly damaging
Transcript: ENSMUST00000061673
AA Change: I1059N

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: I1059N

DomainStartEndE-ValueType
Int_alpha 43 96 1.63e0 SMART
VWA 170 360 4.24e-44 SMART
Int_alpha 432 481 4.21e-3 SMART
Int_alpha 485 542 3.19e-12 SMART
Int_alpha 566 621 1.79e-15 SMART
Int_alpha 628 682 3.04e1 SMART
low complexity region 1108 1122 N/A INTRINSIC
PDB:2L8S|A 1135 1179 5e-10 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (71/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are essentially normal although their kidneys are smaller and more succeptible to injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 C A 7: 119,179,839 (GRCm39) Y352* probably null Het
Adh7 C T 3: 137,927,567 (GRCm39) R38C probably benign Het
Ankrd2 A T 19: 42,028,871 (GRCm39) T145S Het
Anpep T C 7: 79,490,870 (GRCm39) N241D probably benign Het
Apaf1 G A 10: 90,845,102 (GRCm39) L990F probably benign Het
Arsi A G 18: 61,049,836 (GRCm39) T240A possibly damaging Het
Ascc3 A G 10: 50,521,787 (GRCm39) E434G possibly damaging Het
Atp2c2 A T 8: 120,474,999 (GRCm39) K535* probably null Het
B3galt4 A G 17: 34,170,384 (GRCm39) probably benign Het
Brwd1 C G 16: 95,839,154 (GRCm39) C839S probably benign Het
Cars1 C T 7: 143,129,654 (GRCm39) probably null Het
Catsperd T A 17: 56,935,229 (GRCm39) V14D unknown Het
Ccdc150 A C 1: 54,299,197 (GRCm39) T58P probably damaging Het
Cdhr17 T C 5: 17,006,659 (GRCm39) probably null Het
Cdon A G 9: 35,414,617 (GRCm39) D1164G probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cic A C 7: 24,971,940 (GRCm39) D557A probably damaging Het
Clip4 G A 17: 72,117,884 (GRCm39) G310R probably damaging Het
Dach1 G T 14: 98,065,743 (GRCm39) R695S probably damaging Het
Ddc T C 11: 11,765,388 (GRCm39) N428S possibly damaging Het
Dnah6 G A 6: 73,004,497 (GRCm39) T3822I probably benign Het
Dnmt1 T A 9: 20,819,896 (GRCm39) M1535L probably benign Het
Edc4 T C 8: 106,617,051 (GRCm39) probably null Het
Emilin2 A G 17: 71,581,229 (GRCm39) I499T possibly damaging Het
Etl4 A G 2: 20,786,702 (GRCm39) D766G probably damaging Het
Fes T C 7: 80,032,140 (GRCm39) Q414R probably benign Het
Fhod1 A G 8: 106,058,072 (GRCm39) V844A probably benign Het
Fshr A T 17: 89,354,103 (GRCm39) V85E probably benign Het
Gc T C 5: 89,593,236 (GRCm39) N61S probably benign Het
Hapstr1 T C 16: 8,673,898 (GRCm39) L275P possibly damaging Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Itpr3 T A 17: 27,326,636 (GRCm39) V1426E probably damaging Het
Jag1 T A 2: 136,929,044 (GRCm39) Y804F probably benign Het
Lama3 A G 18: 12,605,297 (GRCm39) T1084A probably benign Het
Mdn1 A G 4: 32,760,791 (GRCm39) D4952G probably benign Het
Mmrn1 A G 6: 60,953,860 (GRCm39) T714A probably damaging Het
Nab1 T A 1: 52,529,525 (GRCm39) H124L possibly damaging Het
Nacc2 A G 2: 25,980,118 (GRCm39) F106S probably damaging Het
Nbeal1 T C 1: 60,320,425 (GRCm39) I2006T probably damaging Het
Nkpd1 C A 7: 19,257,683 (GRCm39) H487Q probably benign Het
Nop2 G A 6: 125,117,843 (GRCm39) probably null Het
Or10ag54 T A 2: 87,100,055 (GRCm39) M310K probably benign Het
Or5b124 A G 19: 13,610,595 (GRCm39) N40S probably damaging Het
Otud6b A T 4: 14,811,712 (GRCm39) Y310* probably null Het
Phyh A T 2: 4,932,247 (GRCm39) Y111F probably benign Het
Pon3 A G 6: 5,240,863 (GRCm39) L106P probably benign Het
Ppp6r3 T C 19: 3,519,748 (GRCm39) D615G probably damaging Het
Pramel23 G A 4: 143,423,856 (GRCm39) P311L possibly damaging Het
Prdm10 G A 9: 31,268,438 (GRCm39) V796I probably damaging Het
Prkdc G T 16: 15,523,153 (GRCm39) V1192F probably damaging Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Rab39 T C 9: 53,597,665 (GRCm39) N200S probably benign Het
Rcc2 A G 4: 140,445,664 (GRCm39) I441V probably benign Het
Rxra G A 2: 27,627,496 (GRCm39) V72I possibly damaging Het
Ryr1 T G 7: 28,794,524 (GRCm39) Q1252P probably benign Het
Sectm1a T C 11: 120,960,473 (GRCm39) Y114C probably damaging Het
Smim1 T C 4: 154,108,276 (GRCm39) probably null Het
Smpd2 C T 10: 41,363,561 (GRCm39) D301N probably benign Het
Smyd3 T C 1: 179,232,963 (GRCm39) D139G probably benign Het
Sox13 C T 1: 133,313,743 (GRCm39) C399Y probably damaging Het
Tars3 A G 7: 65,302,013 (GRCm39) E179G probably benign Het
Tas2r138 A G 6: 40,589,494 (GRCm39) F251L probably damaging Het
Tesk1 A G 4: 43,447,307 (GRCm39) E565G probably damaging Het
Tm2d1 A T 4: 98,246,200 (GRCm39) F201I possibly damaging Het
Tom1l2 C A 11: 60,120,942 (GRCm39) D501Y probably benign Het
Trim39 G T 17: 36,579,667 (GRCm39) T96K probably benign Het
Ubash3a A G 17: 31,436,971 (GRCm39) H196R probably damaging Het
Unc13b A G 4: 43,257,352 (GRCm39) E1206G possibly damaging Het
Usp17lc A T 7: 103,068,105 (GRCm39) T467S probably benign Het
Vmn1r128 T C 7: 21,083,316 (GRCm39) S7P possibly damaging Het
Vmn1r185 T A 7: 26,311,073 (GRCm39) H144L possibly damaging Het
Wfdc6b A T 2: 164,455,708 (GRCm39) R12S possibly damaging Het
Zmynd8 A T 2: 165,682,005 (GRCm39) D175E probably benign Het
Other mutations in Itga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Itga1 APN 13 115,128,899 (GRCm39) missense possibly damaging 0.80
IGL00498:Itga1 APN 13 115,167,729 (GRCm39) missense probably benign 0.00
IGL00549:Itga1 APN 13 115,185,832 (GRCm39) missense possibly damaging 0.92
IGL00587:Itga1 APN 13 115,148,785 (GRCm39) missense probably damaging 1.00
IGL01021:Itga1 APN 13 115,133,536 (GRCm39) missense probably benign 0.29
IGL01289:Itga1 APN 13 115,122,762 (GRCm39) missense possibly damaging 0.79
IGL01636:Itga1 APN 13 115,143,484 (GRCm39) missense possibly damaging 0.73
IGL01791:Itga1 APN 13 115,124,197 (GRCm39) missense probably benign 0.00
IGL01796:Itga1 APN 13 115,121,657 (GRCm39) missense probably damaging 1.00
IGL02027:Itga1 APN 13 115,126,591 (GRCm39) splice site probably null
IGL02330:Itga1 APN 13 115,148,740 (GRCm39) missense probably damaging 1.00
IGL02480:Itga1 APN 13 115,124,184 (GRCm39) missense probably damaging 1.00
IGL02943:Itga1 APN 13 115,185,832 (GRCm39) missense possibly damaging 0.92
R0103:Itga1 UTSW 13 115,152,790 (GRCm39) missense probably benign 0.40
R0103:Itga1 UTSW 13 115,152,790 (GRCm39) missense probably benign 0.40
R0244:Itga1 UTSW 13 115,143,433 (GRCm39) splice site probably benign
R0265:Itga1 UTSW 13 115,128,995 (GRCm39) missense probably benign
R0302:Itga1 UTSW 13 115,148,854 (GRCm39) splice site probably benign
R0320:Itga1 UTSW 13 115,114,130 (GRCm39) splice site probably benign
R0389:Itga1 UTSW 13 115,128,996 (GRCm39) missense probably benign 0.04
R0443:Itga1 UTSW 13 115,128,996 (GRCm39) missense probably benign 0.04
R0574:Itga1 UTSW 13 115,103,097 (GRCm39) missense probably damaging 1.00
R0646:Itga1 UTSW 13 115,104,835 (GRCm39) missense probably benign
R0830:Itga1 UTSW 13 115,143,568 (GRCm39) missense probably benign 0.08
R2162:Itga1 UTSW 13 115,167,446 (GRCm39) missense probably benign 0.23
R2216:Itga1 UTSW 13 115,133,565 (GRCm39) missense probably benign 0.00
R2403:Itga1 UTSW 13 115,114,150 (GRCm39) missense probably benign 0.00
R3734:Itga1 UTSW 13 115,114,175 (GRCm39) missense probably benign
R4171:Itga1 UTSW 13 115,167,422 (GRCm39) nonsense probably null
R4402:Itga1 UTSW 13 115,138,102 (GRCm39) missense probably benign 0.00
R4675:Itga1 UTSW 13 115,138,227 (GRCm39) splice site probably null
R4684:Itga1 UTSW 13 115,185,906 (GRCm39) missense probably damaging 1.00
R4795:Itga1 UTSW 13 115,171,921 (GRCm39) missense probably damaging 1.00
R4796:Itga1 UTSW 13 115,171,921 (GRCm39) missense probably damaging 1.00
R4845:Itga1 UTSW 13 115,110,708 (GRCm39) nonsense probably null
R5147:Itga1 UTSW 13 115,121,678 (GRCm39) missense possibly damaging 0.91
R5155:Itga1 UTSW 13 115,171,839 (GRCm39) missense probably benign
R5234:Itga1 UTSW 13 115,185,839 (GRCm39) nonsense probably null
R5344:Itga1 UTSW 13 115,138,845 (GRCm39) missense possibly damaging 0.78
R5554:Itga1 UTSW 13 115,129,010 (GRCm39) nonsense probably null
R5662:Itga1 UTSW 13 115,122,707 (GRCm39) missense probably benign 0.03
R5945:Itga1 UTSW 13 115,103,126 (GRCm39) missense probably benign 0.02
R6150:Itga1 UTSW 13 115,104,769 (GRCm39) missense probably benign 0.01
R6241:Itga1 UTSW 13 115,096,673 (GRCm39) splice site probably null
R6276:Itga1 UTSW 13 115,117,388 (GRCm39) missense probably benign
R6369:Itga1 UTSW 13 115,102,196 (GRCm39) missense probably damaging 1.00
R6511:Itga1 UTSW 13 115,129,037 (GRCm39) missense probably damaging 0.98
R6663:Itga1 UTSW 13 115,110,641 (GRCm39) missense probably benign 0.02
R6783:Itga1 UTSW 13 115,133,513 (GRCm39) missense probably benign 0.22
R6931:Itga1 UTSW 13 115,138,099 (GRCm39) missense probably benign 0.39
R7069:Itga1 UTSW 13 115,104,776 (GRCm39) missense probably damaging 1.00
R7458:Itga1 UTSW 13 115,122,802 (GRCm39) missense probably benign 0.00
R7588:Itga1 UTSW 13 115,104,785 (GRCm39) missense possibly damaging 0.88
R7591:Itga1 UTSW 13 115,119,315 (GRCm39) missense probably damaging 1.00
R7597:Itga1 UTSW 13 115,110,676 (GRCm39) missense probably benign 0.28
R7615:Itga1 UTSW 13 115,133,458 (GRCm39) missense probably null 0.99
R7756:Itga1 UTSW 13 115,128,996 (GRCm39) missense probably benign 0.04
R7795:Itga1 UTSW 13 115,148,772 (GRCm39) missense probably damaging 1.00
R7819:Itga1 UTSW 13 115,185,837 (GRCm39) missense probably damaging 0.99
R8193:Itga1 UTSW 13 115,104,991 (GRCm39) critical splice donor site probably null
R8313:Itga1 UTSW 13 115,103,120 (GRCm39) missense probably benign 0.06
R8419:Itga1 UTSW 13 115,143,604 (GRCm39) missense probably damaging 1.00
R8925:Itga1 UTSW 13 115,105,055 (GRCm39) missense probably benign 0.01
R8927:Itga1 UTSW 13 115,105,055 (GRCm39) missense probably benign 0.01
R8951:Itga1 UTSW 13 115,107,027 (GRCm39) nonsense probably null
R9099:Itga1 UTSW 13 115,185,856 (GRCm39) missense probably damaging 1.00
R9221:Itga1 UTSW 13 115,166,695 (GRCm39) nonsense probably null
R9249:Itga1 UTSW 13 115,185,834 (GRCm39) missense probably damaging 1.00
R9267:Itga1 UTSW 13 115,185,924 (GRCm39) missense possibly damaging 0.50
R9376:Itga1 UTSW 13 115,107,112 (GRCm39) missense probably benign 0.07
R9481:Itga1 UTSW 13 115,152,753 (GRCm39) missense probably benign 0.34
R9789:Itga1 UTSW 13 115,171,820 (GRCm39) nonsense probably null
Z1177:Itga1 UTSW 13 115,121,607 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCACTTGACTCACATCCGAGG -3'
(R):5'- GATCCTTCATATTACTGCACCAAC -3'

Sequencing Primer
(F):5'- ACACGTGATGGTAGCAATCTTG -3'
(R):5'- TCATATTACTGCACCAACTTATCTTG -3'
Posted On 2022-02-07