Incidental Mutation 'R5954:Itga8'
ID 471029
Institutional Source Beutler Lab
Gene Symbol Itga8
Ensembl Gene ENSMUSG00000026768
Gene Name integrin alpha 8
Synonyms
MMRRC Submission 044143-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.870) question?
Stock # R5954 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 12111443-12306733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 12137297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 23 (A23S)
Ref Sequence ENSEMBL: ENSMUSP00000134238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028106] [ENSMUST00000148055] [ENSMUST00000172791]
AlphaFold A2ARA8
Predicted Effect possibly damaging
Transcript: ENSMUST00000028106
AA Change: A944S

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028106
Gene: ENSMUSG00000026768
AA Change: A944S

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 damaging
Transcript: ENSMUST00000148055
AA Change: A23S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134238
Gene: ENSMUSG00000026768
AA Change: A23S

DomainStartEndE-ValueType
SCOP:d1m1xa3 1 79 7e-32 SMART
PDB:3IJE|A 2 89 9e-15 PDB
transmembrane domain 90 112 N/A INTRINSIC
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192947
Meta Mutation Damage Score 0.1637 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 100% (62/62)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,616,390 (GRCm39) I944T probably benign Het
Ank2 T C 3: 126,791,510 (GRCm39) T823A probably benign Het
Ankrd42 C G 7: 92,273,175 (GRCm39) probably null Het
Anks4b T A 7: 119,781,396 (GRCm39) N142K possibly damaging Het
Armc5 A G 7: 127,841,444 (GRCm39) E484G probably benign Het
B4galnt3 A G 6: 120,202,149 (GRCm39) F118L possibly damaging Het
Bbs12 C T 3: 37,374,151 (GRCm39) L200F possibly damaging Het
Cacna1h A G 17: 25,602,175 (GRCm39) F1555S probably damaging Het
Cds2 A G 2: 132,139,191 (GRCm39) T145A probably benign Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Chd6 A C 2: 160,807,747 (GRCm39) H1822Q probably benign Het
Chdh C T 14: 29,753,138 (GRCm39) R16C possibly damaging Het
Cnga1 T C 5: 72,762,221 (GRCm39) D431G probably damaging Het
Dock8 G A 19: 25,148,983 (GRCm39) R1487Q probably damaging Het
Farp1 T A 14: 121,460,079 (GRCm39) V116D probably damaging Het
Fbxo24 T A 5: 137,617,943 (GRCm39) T274S probably damaging Het
Fmnl3 G A 15: 99,223,791 (GRCm39) R302W probably damaging Het
Gatad2b T C 3: 90,258,748 (GRCm39) L257P probably damaging Het
Gm20402 C T 3: 52,176,311 (GRCm39) P30L probably damaging Het
Gm7932 C T 6: 48,839,793 (GRCm39) noncoding transcript Het
Gpatch8 A T 11: 102,371,767 (GRCm39) D590E unknown Het
Herc1 T G 9: 66,358,774 (GRCm39) probably benign Het
Hsd3b2 T A 3: 98,618,875 (GRCm39) I357F probably benign Het
Ipo5 A G 14: 121,157,396 (GRCm39) Y78C probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kat2a A G 11: 100,599,724 (GRCm39) V451A possibly damaging Het
Knstrn A G 2: 118,661,436 (GRCm39) probably benign Het
Med23 A G 10: 24,746,381 (GRCm39) probably benign Het
Mefv A G 16: 3,533,579 (GRCm39) Y231H probably benign Het
Or4d10 A T 19: 12,051,447 (GRCm39) I183N possibly damaging Het
Or4e5 T A 14: 52,727,624 (GRCm39) I266F probably benign Het
Or5p69 T A 7: 107,966,808 (GRCm39) I37N probably damaging Het
Or8g21 A G 9: 38,906,711 (GRCm39) S7P probably damaging Het
Pak5 G T 2: 135,958,383 (GRCm39) T235K probably benign Het
Plppr3 G T 10: 79,701,960 (GRCm39) P294Q probably benign Het
Prepl A G 17: 85,372,077 (GRCm39) F725L probably benign Het
Ptchd3 A T 11: 121,727,413 (GRCm39) probably benign Het
Rprd2 T C 3: 95,672,175 (GRCm39) E1076G probably damaging Het
Sarm1 C A 11: 78,381,428 (GRCm39) E352* probably null Het
Sccpdh T A 1: 179,508,153 (GRCm39) H14Q probably benign Het
Senp7 A G 16: 55,990,234 (GRCm39) I661V probably benign Het
Septin3 T C 15: 82,174,628 (GRCm39) F140L probably damaging Het
Spag6 G T 2: 18,715,417 (GRCm39) Q65H probably damaging Het
Tnni3 C T 7: 4,522,539 (GRCm39) R137H probably damaging Het
Trank1 A G 9: 111,194,201 (GRCm39) S742G probably benign Het
Ucn3 T C 13: 3,991,413 (GRCm39) I80V probably benign Het
Ulk2 A T 11: 61,694,622 (GRCm39) probably benign Het
Uncx C T 5: 139,533,384 (GRCm39) S483L probably benign Het
Vps39 A G 2: 120,155,143 (GRCm39) V550A probably damaging Het
Zfp697 C A 3: 98,335,909 (GRCm39) T558K probably damaging Het
Zfp790 G T 7: 29,528,929 (GRCm39) G538V 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
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
R8772:Itga8 UTSW 2 12,187,495 (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'- AACTGCTCTTGGCTCGTCTC -3'
(R):5'- GCAAGGCCATATCTTCCGAG -3'

Sequencing Primer
(F):5'- GAAATGGCTCCGTCAGTAACCTG -3'
(R):5'- GGCCATATCTTCCGAGGAAAG -3'
Posted On 2017-03-31