Incidental Mutation 'R8808:Itga8'
ID 672188
Institutional Source Beutler Lab
Gene Symbol Itga8
Ensembl Gene ENSMUSG00000026768
Gene Name integrin alpha 8
Synonyms
MMRRC Submission 068644-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.870) question?
Stock # R8808 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 12111443-12306733 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 12137328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 933 (C933*)
Ref Sequence ENSEMBL: ENSMUSP00000028106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028106] [ENSMUST00000148055] [ENSMUST00000172791]
AlphaFold A2ARA8
Predicted Effect probably null
Transcript: ENSMUST00000028106
AA Change: C933*
SMART Domains Protein: ENSMUSP00000028106
Gene: ENSMUSG00000026768
AA Change: C933*

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 null
Transcript: ENSMUST00000148055
AA Change: C12*
SMART Domains Protein: ENSMUSP00000134238
Gene: ENSMUSG00000026768
AA Change: C12*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 95% (60/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,775,874 (GRCm39) P1688S probably benign Het
4933412E24Rik T C 15: 59,887,919 (GRCm39) T174A probably benign Het
Actl10 T A 2: 154,395,068 (GRCm39) L340Q probably damaging Het
Adra1d T C 2: 131,403,397 (GRCm39) E231G probably damaging Het
Agt T A 8: 125,291,028 (GRCm39) D93V probably benign Het
Als2cl G T 9: 110,718,282 (GRCm39) R341L possibly damaging Het
Ankrd63 G T 2: 118,533,549 (GRCm39) A124E unknown Het
Aqp8 T C 7: 123,065,922 (GRCm39) L239P probably damaging Het
Arhgef11 A G 3: 87,593,336 (GRCm39) E85G probably damaging Het
Cacng4 T A 11: 107,685,209 (GRCm39) I28F possibly damaging Het
Cc2d1a T C 8: 84,861,599 (GRCm39) D741G probably damaging Het
Cct8l1 T A 5: 25,722,210 (GRCm39) N308K possibly damaging Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Chrna5 T A 9: 54,905,348 (GRCm39) D53E probably benign Het
Dap3 A T 3: 88,835,514 (GRCm39) probably null Het
Disp2 A G 2: 118,620,489 (GRCm39) Y407C probably damaging Het
Dnah1 A G 14: 31,008,771 (GRCm39) M2001T probably benign Het
Dysf C G 6: 83,996,466 (GRCm39) probably benign Het
Eif2ak1 A T 5: 143,816,264 (GRCm39) K187N probably damaging Het
Ethe1 T C 7: 24,294,496 (GRCm39) S100P probably damaging Het
Fam186a G C 15: 99,842,604 (GRCm39) I1213M possibly damaging Het
Gbp9 A G 5: 105,232,875 (GRCm39) F259S probably damaging Het
Heatr5b G A 17: 79,072,834 (GRCm39) H1610Y possibly damaging Het
Hk2 T A 6: 82,705,747 (GRCm39) D852V probably benign Het
Hmcn1 T A 1: 150,531,570 (GRCm39) Q3233L possibly damaging Het
Htt T A 5: 35,046,791 (GRCm39) V2369E probably benign Het
Il9 C A 13: 56,629,942 (GRCm39) E35* probably null Het
Jak3 A G 8: 72,138,164 (GRCm39) K872E possibly damaging Het
Kcnmb2 A C 3: 32,252,266 (GRCm39) M156L probably benign Het
Kdm4a C T 4: 117,999,480 (GRCm39) V981I unknown Het
Klhl38 A T 15: 58,178,225 (GRCm39) *582R probably null Het
Map3k19 A G 1: 127,751,866 (GRCm39) F495S probably damaging Het
Mpeg1 T A 19: 12,440,443 (GRCm39) W634R probably damaging Het
Mrpl4 T A 9: 20,918,978 (GRCm39) Y202N possibly damaging Het
Nme8 A G 13: 19,859,978 (GRCm39) V214A probably damaging Het
Or4k36 A T 2: 111,146,239 (GRCm39) R138S possibly damaging Het
Or8k33 G A 2: 86,384,297 (GRCm39) T57M probably damaging Het
Pcdhgb6 A G 18: 37,876,451 (GRCm39) I386M possibly damaging Het
Pitpnm1 T A 19: 4,162,356 (GRCm39) V1062E possibly damaging Het
Plekhm3 G A 1: 64,922,355 (GRCm39) R607W possibly damaging Het
Plppr2 TCGCC TC 9: 21,855,727 (GRCm39) probably benign Het
Prap1 C A 7: 139,676,982 (GRCm39) H141Q probably damaging Het
Prep T A 10: 44,971,252 (GRCm39) Y187* probably null Het
Rergl T G 6: 139,478,865 (GRCm39) E3A probably benign Het
Rnf19a A T 15: 36,242,021 (GRCm39) S673T probably benign Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
St18 G A 1: 6,880,826 (GRCm39) E440K probably damaging Het
Syne1 T A 10: 5,309,074 (GRCm39) Q645L probably damaging Het
Tmcc1 C A 6: 116,111,099 (GRCm39) V61L Het
Tmcc1 A T 6: 116,111,098 (GRCm39) V61E Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tmem201 C A 4: 149,814,138 (GRCm39) R154L possibly damaging Het
Tmem71 G A 15: 66,410,655 (GRCm39) A239V possibly damaging Het
Tpgs2 A G 18: 25,284,275 (GRCm39) W78R probably damaging Het
Tssc4 T C 7: 142,623,436 (GRCm39) V22A unknown Het
Ttn T A 2: 76,723,128 (GRCm39) E6496D unknown Het
Ttn T A 2: 76,697,539 (GRCm39) L227F Het
Vps50 G T 6: 3,522,338 (GRCm39) G169* probably null Het
Yy1 CGGCGACCACGGCGGCGGCGGGGGCG CGGCG 12: 108,759,506 (GRCm39) probably benign Het
Zfp407 T C 18: 84,361,185 (GRCm39) K1703R probably benign Het
Zfp616 T G 11: 73,976,523 (GRCm39) C931G probably damaging Het
Zfp949 G A 9: 88,451,417 (GRCm39) C329Y probably damaging Het
Zswim5 T A 4: 116,822,887 (GRCm39) D452E probably benign 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
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
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'- AAATTCCTACACACGGTGCT -3'
(R):5'- CCAGGAAATTCAATGTCTCACCATT -3'

Sequencing Primer
(F):5'- ACACGGTGCTCCTCTTTTGGG -3'
(R):5'- AATGTCTCACCATTGCTAACCG -3'
Posted On 2021-04-30