Incidental Mutation 'R8772:Itga8'
ID 664435
Institutional Source Beutler Lab
Gene Symbol Itga8
Ensembl Gene ENSMUSG00000026768
Gene Name integrin alpha 8
Synonyms
MMRRC Submission 068626-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.870) question?
Stock # R8772 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 12111443-12306733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 12187495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Alanine at position 728 (G728A)
Ref Sequence ENSEMBL: ENSMUSP00000028106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028106] [ENSMUST00000172791]
AlphaFold A2ARA8
Predicted Effect probably damaging
Transcript: ENSMUST00000028106
AA Change: G728A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028106
Gene: ENSMUSG00000026768
AA Change: G728A

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
Int_alpha 52 112 8.48e-8 SMART
Int_alpha 197 244 4.8e1 SMART
Int_alpha 262 312 5.91e-7 SMART
Int_alpha 316 377 6.94e-13 SMART
Int_alpha 381 437 1.92e-15 SMART
Int_alpha 445 494 8.23e-6 SMART
SCOP:d1m1xa2 643 780 2e-46 SMART
SCOP:d1m1xa3 784 1000 2e-80 SMART
transmembrane domain 1011 1033 N/A INTRINSIC
Pfam:Integrin_alpha 1034 1048 2.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172791
SMART Domains Protein: ENSMUSP00000134154
Gene: ENSMUSG00000026768

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
Int_alpha 52 112 8.48e-8 SMART
Int_alpha 197 244 4.8e1 SMART
Int_alpha 262 312 5.91e-7 SMART
Int_alpha 316 377 6.94e-13 SMART
Int_alpha 381 437 1.92e-15 SMART
Int_alpha 445 494 8.23e-6 SMART
Meta Mutation Damage Score 0.8466 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency 100% (83/83)
MGI Phenotype FUNCTION: This gene encodes a member of the integrin family of cell surface proteins that mediate cellular interactions with the extracellular matrix and other cells. The encoded protein undergoes proteolytic processing to generate the disulfide-linked heterodimeric alpha subunit which, in turn associates with a beta subunit to form the functional integrin receptor. Mice lacking the encoded protein mostly die after birth due to kidney defects, but some of animals that survive exhibit defects in the sensory hair cells of the inner ear. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die by the end of the second day after birth. Those that do survive have reduced kidneys and abnormal steriocilia in the inner ear. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T C 17: 45,827,903 (GRCm39) V574A probably benign Het
AC157566.4 T C 15: 76,418,449 (GRCm39) Y20C probably benign Het
Acacb A T 5: 114,322,179 (GRCm39) D231V possibly damaging Het
Acp7 C T 7: 28,315,909 (GRCm39) V226M probably damaging Het
Actr1a A G 19: 46,370,731 (GRCm39) probably null Het
Adamts16 T C 13: 70,984,453 (GRCm39) Y70C probably damaging Het
Adcy5 G A 16: 35,119,958 (GRCm39) A1156T probably damaging Het
Ago1 A T 4: 126,354,316 (GRCm39) probably benign Het
Akap9 G A 5: 4,096,255 (GRCm39) E2377K probably damaging Het
Asic2 A G 11: 81,858,713 (GRCm39) S100P probably benign Het
Atp1a1 A C 3: 101,487,124 (GRCm39) V895G probably benign Het
B3gnt7 A G 1: 86,233,294 (GRCm39) E180G possibly damaging Het
Cacna1c A T 6: 118,579,283 (GRCm39) F1805I Het
Cacna1g A G 11: 94,356,713 (GRCm39) I141T probably benign Het
Ccdc162 A G 10: 41,506,033 (GRCm39) L919P probably damaging Het
Cd47 A G 16: 49,704,575 (GRCm39) I116V Het
Cdca2 A T 14: 67,935,529 (GRCm39) D395E probably damaging Het
Celsr2 A T 3: 108,304,389 (GRCm39) I2285N possibly damaging Het
Chil5 T C 3: 105,925,536 (GRCm39) D157G probably damaging Het
Ciita A T 16: 10,298,026 (GRCm39) I7F probably damaging Het
Dok7 G T 5: 35,234,593 (GRCm39) G215C probably damaging Het
Eif2s2 T C 2: 154,729,659 (GRCm39) I88V probably null Het
Fasn A T 11: 120,711,362 (GRCm39) D217E probably benign Het
Fgd5 T A 6: 92,027,400 (GRCm39) I1030N probably damaging Het
Fpr-rs6 T A 17: 20,402,495 (GRCm39) N289Y probably damaging Het
Gm10392 C T 11: 77,409,280 (GRCm39) V49I possibly damaging Het
Gtf3c2 A T 5: 31,331,758 (GRCm39) M20K probably benign Het
Hoga1 A G 19: 42,034,384 (GRCm39) M10V probably benign Het
Homer1 T A 13: 93,528,239 (GRCm39) V258E probably damaging Het
Ifitm2 A G 7: 140,535,803 (GRCm39) L9S probably benign Het
Iqgap3 G A 3: 87,997,144 (GRCm39) A176T probably benign Het
Lyst C T 13: 13,812,077 (GRCm39) Q830* probably null Het
Macc1 T C 12: 119,411,220 (GRCm39) W663R probably damaging Het
Mipol1 A T 12: 57,372,418 (GRCm39) H159L probably benign Het
Mocs1 T A 17: 49,757,402 (GRCm39) probably null Het
Ncoa1 T C 12: 4,372,940 (GRCm39) T154A possibly damaging Het
Noxred1 A C 12: 87,273,867 (GRCm39) L58R probably benign Het
Opcml T C 9: 27,702,707 (GRCm39) V9A probably benign Het
Or51e2 G A 7: 102,392,210 (GRCm39) probably benign Het
Or5ac23 A G 16: 59,149,051 (GRCm39) S274P probably damaging Het
Or8c17 G A 9: 38,180,231 (GRCm39) V133I probably benign Het
Otog A T 7: 45,934,352 (GRCm39) R1303S probably damaging Het
Parp11 T A 6: 127,468,667 (GRCm39) I322N probably damaging Het
Parp11 T A 6: 127,447,726 (GRCm39) M20K possibly damaging Het
Pde1b T C 15: 103,433,548 (GRCm39) probably benign Het
Pglyrp4 A T 3: 90,647,707 (GRCm39) T356S possibly damaging Het
Pitrm1 A G 13: 6,628,596 (GRCm39) D963G probably damaging Het
Plod3 T C 5: 137,017,773 (GRCm39) V183A probably damaging Het
Plxnb2 C T 15: 89,046,949 (GRCm39) V791M probably damaging Het
Poc1b T A 10: 98,992,219 (GRCm39) probably benign Het
Ppp1r7 A G 1: 93,282,150 (GRCm39) T234A probably benign Het
Pxdn C T 12: 30,065,463 (GRCm39) T1441I probably damaging Het
Rap1gap2 T C 11: 74,296,551 (GRCm39) K479E probably damaging Het
Rars2 A G 4: 34,623,488 (GRCm39) D63G probably benign Het
Rptor A C 11: 119,615,858 (GRCm39) D124A probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Ryr1 C A 7: 28,815,557 (GRCm39) R118L probably benign Het
Sap130 G C 18: 31,813,517 (GRCm39) D525H probably damaging Het
Slc22a26 T C 19: 7,767,477 (GRCm39) N310D probably benign Het
Slc46a1 T G 11: 78,356,777 (GRCm39) N58K probably benign Het
Slc4a10 T A 2: 62,134,284 (GRCm39) I1000N probably damaging Het
Son C T 16: 91,454,826 (GRCm39) T1191I possibly damaging Het
Sppl2a T C 2: 126,768,231 (GRCm39) K146E probably benign Het
Srgap3 T A 6: 112,743,906 (GRCm39) K444I probably damaging Het
Sun1 T C 5: 139,209,447 (GRCm39) V59A probably benign Het
Sva T A 6: 42,015,443 (GRCm39) Y37N probably benign Het
Taar8c T A 10: 23,977,705 (GRCm39) M36L probably benign Het
Taf4b C T 18: 14,968,909 (GRCm39) T682I probably damaging Het
Tbx5 T A 5: 119,976,790 (GRCm39) H59Q probably benign Het
Tdrd1 A T 19: 56,843,760 (GRCm39) Y746F probably damaging Het
Tmem132e A G 11: 82,325,137 (GRCm39) S46G probably damaging Het
Tnfaip6 T A 2: 51,941,077 (GRCm39) V206E possibly damaging Het
Tpbpb T A 13: 61,049,193 (GRCm39) probably benign Het
Ttn T A 2: 76,768,025 (GRCm39) K3025* probably null Het
Tulp4 T A 17: 6,227,168 (GRCm39) I106N probably damaging Het
Ubp1 T A 9: 113,801,897 (GRCm39) F454Y probably benign Het
Ugt2b37 A T 5: 87,402,345 (GRCm39) N95K probably benign Het
Vps13d T A 4: 144,801,602 (GRCm39) R3539W Het
Vsnl1 T C 12: 11,382,180 (GRCm39) H67R probably damaging Het
Zbbx A G 3: 75,062,692 (GRCm39) Y22H probably benign Het
Zeb1 A G 18: 5,770,382 (GRCm39) probably null Het
Zfp142 A T 1: 74,610,825 (GRCm39) L990Q possibly damaging Het
Zmiz1 G A 14: 25,646,118 (GRCm39) G265D probably damaging Het
Other mutations in Itga8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00806:Itga8 APN 2 12,260,777 (GRCm39) nonsense probably null
IGL00820:Itga8 APN 2 12,237,703 (GRCm39) missense possibly damaging 0.85
IGL01409:Itga8 APN 2 12,196,525 (GRCm39) missense probably benign
IGL01508:Itga8 APN 2 12,237,613 (GRCm39) missense possibly damaging 0.67
IGL01585:Itga8 APN 2 12,165,123 (GRCm39) splice site probably benign
IGL01590:Itga8 APN 2 12,165,144 (GRCm39) missense probably damaging 1.00
IGL01743:Itga8 APN 2 12,270,144 (GRCm39) missense probably benign 0.04
IGL02634:Itga8 APN 2 12,145,289 (GRCm39) missense possibly damaging 0.55
IGL02805:Itga8 APN 2 12,194,291 (GRCm39) missense possibly damaging 0.83
IGL03200:Itga8 APN 2 12,196,010 (GRCm39) missense probably benign 0.00
IGL03218:Itga8 APN 2 12,115,836 (GRCm39) missense possibly damaging 0.77
IGL03248:Itga8 APN 2 12,137,327 (GRCm39) missense probably benign 0.20
PIT4576001:Itga8 UTSW 2 12,234,903 (GRCm39) missense probably benign 0.19
R0196:Itga8 UTSW 2 12,209,540 (GRCm39) critical splice donor site probably null
R0356:Itga8 UTSW 2 12,187,532 (GRCm39) missense possibly damaging 0.73
R0466:Itga8 UTSW 2 12,237,697 (GRCm39) missense probably damaging 1.00
R0530:Itga8 UTSW 2 12,196,627 (GRCm39) missense probably damaging 0.99
R0715:Itga8 UTSW 2 12,196,053 (GRCm39) splice site probably benign
R0800:Itga8 UTSW 2 12,198,362 (GRCm39) missense possibly damaging 0.95
R0881:Itga8 UTSW 2 12,267,003 (GRCm39) splice site probably null
R1675:Itga8 UTSW 2 12,204,974 (GRCm39) missense probably damaging 0.99
R1758:Itga8 UTSW 2 12,270,144 (GRCm39) missense possibly damaging 0.83
R1939:Itga8 UTSW 2 12,305,657 (GRCm39) missense probably damaging 1.00
R2187:Itga8 UTSW 2 12,199,231 (GRCm39) missense possibly damaging 0.60
R2295:Itga8 UTSW 2 12,187,520 (GRCm39) missense probably benign 0.38
R2356:Itga8 UTSW 2 12,204,952 (GRCm39) missense probably benign
R2371:Itga8 UTSW 2 12,258,277 (GRCm39) missense probably damaging 1.00
R2412:Itga8 UTSW 2 12,306,526 (GRCm39) missense probably benign
R2440:Itga8 UTSW 2 12,183,491 (GRCm39) missense possibly damaging 0.70
R2848:Itga8 UTSW 2 12,165,215 (GRCm39) missense probably damaging 0.98
R3730:Itga8 UTSW 2 12,198,321 (GRCm39) missense possibly damaging 0.92
R3933:Itga8 UTSW 2 12,194,330 (GRCm39) missense probably benign
R3982:Itga8 UTSW 2 12,305,774 (GRCm39) missense possibly damaging 0.92
R4513:Itga8 UTSW 2 12,187,547 (GRCm39) missense probably benign 0.01
R4514:Itga8 UTSW 2 12,187,547 (GRCm39) missense probably benign 0.01
R4660:Itga8 UTSW 2 12,270,069 (GRCm39) missense probably damaging 1.00
R4890:Itga8 UTSW 2 12,198,102 (GRCm39) splice site probably benign
R5533:Itga8 UTSW 2 12,165,161 (GRCm39) missense possibly damaging 0.90
R5619:Itga8 UTSW 2 12,270,139 (GRCm39) missense probably damaging 1.00
R5720:Itga8 UTSW 2 12,115,898 (GRCm39) missense probably damaging 0.99
R5749:Itga8 UTSW 2 12,266,889 (GRCm39) missense probably damaging 1.00
R5930:Itga8 UTSW 2 12,235,019 (GRCm39) missense possibly damaging 0.84
R5954:Itga8 UTSW 2 12,137,297 (GRCm39) missense probably damaging 0.99
R6035:Itga8 UTSW 2 12,196,525 (GRCm39) missense probably benign
R6035:Itga8 UTSW 2 12,196,525 (GRCm39) missense probably benign
R6211:Itga8 UTSW 2 12,198,320 (GRCm39) missense probably damaging 1.00
R6337:Itga8 UTSW 2 12,258,280 (GRCm39) nonsense probably null
R6442:Itga8 UTSW 2 12,234,954 (GRCm39) missense probably benign 0.00
R6491:Itga8 UTSW 2 12,209,587 (GRCm39) missense probably damaging 1.00
R6543:Itga8 UTSW 2 12,306,455 (GRCm39) missense probably damaging 0.99
R6574:Itga8 UTSW 2 12,234,972 (GRCm39) missense probably benign 0.17
R6760:Itga8 UTSW 2 12,306,451 (GRCm39) missense probably damaging 1.00
R6858:Itga8 UTSW 2 12,204,892 (GRCm39) missense probably benign 0.00
R6943:Itga8 UTSW 2 12,160,182 (GRCm39) critical splice donor site probably null
R7048:Itga8 UTSW 2 12,115,895 (GRCm39) missense probably damaging 0.99
R7203:Itga8 UTSW 2 12,234,906 (GRCm39) missense possibly damaging 0.77
R7266:Itga8 UTSW 2 12,237,712 (GRCm39) missense probably damaging 1.00
R7323:Itga8 UTSW 2 12,266,940 (GRCm39) missense probably damaging 1.00
R7540:Itga8 UTSW 2 12,115,848 (GRCm39) missense possibly damaging 0.82
R7637:Itga8 UTSW 2 12,113,998 (GRCm39) missense probably damaging 1.00
R7748:Itga8 UTSW 2 12,235,050 (GRCm39) missense possibly damaging 0.80
R7848:Itga8 UTSW 2 12,196,548 (GRCm39) missense probably damaging 0.99
R8031:Itga8 UTSW 2 12,160,297 (GRCm39) missense probably benign
R8077:Itga8 UTSW 2 12,247,244 (GRCm39) missense probably benign 0.09
R8757:Itga8 UTSW 2 12,266,940 (GRCm39) missense probably damaging 1.00
R8759:Itga8 UTSW 2 12,266,940 (GRCm39) missense probably damaging 1.00
R8773:Itga8 UTSW 2 12,187,495 (GRCm39) missense probably damaging 1.00
R8774:Itga8 UTSW 2 12,187,495 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Itga8 UTSW 2 12,187,495 (GRCm39) missense probably damaging 1.00
R8775:Itga8 UTSW 2 12,187,495 (GRCm39) missense probably damaging 1.00
R8775-TAIL:Itga8 UTSW 2 12,187,495 (GRCm39) missense probably damaging 1.00
R8808:Itga8 UTSW 2 12,137,328 (GRCm39) nonsense probably null
R8898:Itga8 UTSW 2 12,145,206 (GRCm39) missense probably benign 0.05
R8962:Itga8 UTSW 2 12,196,045 (GRCm39) missense possibly damaging 0.94
R9056:Itga8 UTSW 2 12,235,019 (GRCm39) missense possibly damaging 0.84
R9155:Itga8 UTSW 2 12,194,330 (GRCm39) missense probably benign
R9354:Itga8 UTSW 2 12,237,668 (GRCm39) missense possibly damaging 0.94
R9563:Itga8 UTSW 2 12,165,219 (GRCm39) missense possibly damaging 0.83
R9589:Itga8 UTSW 2 12,237,701 (GRCm39) missense probably damaging 1.00
R9663:Itga8 UTSW 2 12,196,580 (GRCm39) missense probably benign 0.00
Z1176:Itga8 UTSW 2 12,306,643 (GRCm39) start gained probably benign
Z1176:Itga8 UTSW 2 12,266,947 (GRCm39) missense probably benign 0.01
Z1176:Itga8 UTSW 2 12,252,329 (GRCm39) missense probably damaging 1.00
Z1177:Itga8 UTSW 2 12,305,744 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- TCGCCATTATCACCCCATGG -3'
(R):5'- CAGATCAACTGTGTGCAGCG -3'

Sequencing Primer
(F):5'- TCACCCCATGGAGGTTAAAATG -3'
(R):5'- GACCCGCACAGGTGTTTGAAATC -3'
Posted On 2021-03-08