Incidental Mutation 'R9663:Itga8'
ID 727655
Institutional Source Beutler Lab
Gene Symbol Itga8
Ensembl Gene ENSMUSG00000026768
Gene Name integrin alpha 8
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.870) question?
Stock # R9663 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 12111443-12306733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 12196580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 612 (F612L)
Ref Sequence ENSEMBL: ENSMUSP00000028106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028106] [ENSMUST00000172791]
AlphaFold A2ARA8
Predicted Effect probably benign
Transcript: ENSMUST00000028106
AA Change: F612L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000028106
Gene: ENSMUSG00000026768
AA Change: F612L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh6 T C 7: 30,013,371 (GRCm39) S161P probably damaging Het
Alppl2 T A 1: 87,015,753 (GRCm39) H297L probably benign Het
Angptl2 A G 2: 33,118,231 (GRCm39) R2G probably benign Het
Arhgef15 T A 11: 68,845,255 (GRCm39) N199I probably damaging Het
Asns A T 6: 7,680,132 (GRCm39) I328K probably damaging Het
Atad2 G T 15: 57,971,540 (GRCm39) T734K probably benign Het
Capn3 A C 2: 120,316,859 (GRCm39) M283L probably benign Het
Catsperd T A 17: 56,960,751 (GRCm39) C384S possibly damaging Het
Cd101 A G 3: 100,911,222 (GRCm39) V816A probably benign Het
Cd5 T G 19: 10,703,858 (GRCm39) D68A probably benign Het
Ceacam18 G A 7: 43,288,764 (GRCm39) V172M probably damaging Het
Cfap100 G A 6: 90,386,328 (GRCm39) R276C Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Creb3l2 A G 6: 37,356,926 (GRCm39) V47A probably damaging Het
Crebbp T A 16: 3,933,654 (GRCm39) E1017D probably damaging Het
Cttn T C 7: 144,011,461 (GRCm39) D116G probably damaging Het
Cyp2c65 A G 19: 39,079,070 (GRCm39) probably null Het
Dcaf13 C T 15: 38,982,178 (GRCm39) T48I possibly damaging Het
Dsc2 T A 18: 20,171,205 (GRCm39) D598V probably damaging Het
Dtx3 G A 10: 127,028,518 (GRCm39) T237I probably damaging Het
E130308A19Rik A G 4: 59,719,764 (GRCm39) E432G possibly damaging Het
Eps15 G A 4: 109,179,270 (GRCm39) V219I probably benign Het
Ext1 A G 15: 53,208,456 (GRCm39) S102P probably damaging Het
Fam151a A T 4: 106,604,894 (GRCm39) I419L possibly damaging Het
Fam89a C T 8: 125,478,436 (GRCm39) G38D probably damaging Het
Fdx2 G T 9: 20,984,717 (GRCm39) A29E probably benign Het
Hhla1 G A 15: 65,813,630 (GRCm39) T234I probably damaging Het
Hspb6 G A 7: 30,253,714 (GRCm39) V76M probably damaging Het
Ighmbp2 C A 19: 3,315,325 (GRCm39) K698N probably benign Het
Invs A G 4: 48,426,218 (GRCm39) I1002V probably damaging Het
Kcnma1 G T 14: 24,053,897 (GRCm39) F99L probably benign Het
Klf11 A G 12: 24,705,731 (GRCm39) Y395C probably damaging Het
Kplce A T 3: 92,776,283 (GRCm39) N133K probably benign Het
Lama4 G A 10: 38,923,944 (GRCm39) E451K probably damaging Het
Lrr1 A G 12: 69,221,884 (GRCm39) Y342C probably damaging Het
Lrrc18 A T 14: 32,731,021 (GRCm39) M187L probably benign Het
Luc7l3 A G 11: 94,187,756 (GRCm39) S311P unknown Het
Lypd3 T A 7: 24,338,349 (GRCm39) S133R probably damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mug1 T A 6: 121,859,699 (GRCm39) S1233T probably benign Het
Mug1 A T 6: 121,857,463 (GRCm39) E1062D probably benign Het
Myh7 T C 14: 55,221,098 (GRCm39) K942E probably damaging Het
Nedd9 T C 13: 41,469,941 (GRCm39) D404G probably damaging Het
Nisch C A 14: 30,895,625 (GRCm39) A1022S probably damaging Het
Nkx3-1 A G 14: 69,429,321 (GRCm39) D113G probably benign Het
Or1ad6 T C 11: 50,860,165 (GRCm39) F107L probably benign Het
Or6c1b A T 10: 129,272,929 (GRCm39) I83F probably damaging Het
Or6c215 A G 10: 129,637,497 (GRCm39) F299S probably benign Het
Otub1 C T 19: 7,176,813 (GRCm39) G181D probably damaging Het
Palb2 T C 7: 121,726,304 (GRCm39) H522R probably benign Het
Pfpl A T 19: 12,407,459 (GRCm39) D570V probably damaging Het
Phyhd1 A G 2: 30,171,070 (GRCm39) N271S probably damaging Het
Ptprm T C 17: 67,498,291 (GRCm39) Q50R probably benign Het
Rfx2 C A 17: 57,087,895 (GRCm39) V499L possibly damaging Het
Sema5a C T 15: 32,673,546 (GRCm39) Q795* probably null Het
Sf3a2 A G 10: 80,637,309 (GRCm39) N49S probably damaging Het
Sft2d1 T G 17: 8,545,812 (GRCm39) S156A probably benign Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc25a33 T A 4: 149,836,913 (GRCm39) T144S probably benign Het
Slc7a13 A T 4: 19,818,818 (GRCm39) K6M possibly damaging Het
Spata31e5 G T 1: 28,816,536 (GRCm39) H499N probably benign Het
Tfap2c G A 2: 172,399,213 (GRCm39) D487N probably damaging Het
Thbs1 G A 2: 117,949,897 (GRCm39) R624Q probably damaging Het
Thsd4 A G 9: 59,890,026 (GRCm39) F857S probably damaging Het
Tnfrsf4 A G 4: 156,100,884 (GRCm39) I272V probably benign Het
Trak1 C T 9: 121,220,924 (GRCm39) R45C probably benign Het
Trpm2 A G 10: 77,756,320 (GRCm39) S1167P probably benign Het
Ttc14 A T 3: 33,855,537 (GRCm39) T161S probably benign Het
Ttll1 A G 15: 83,380,579 (GRCm39) V262A possibly damaging Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Ufsp1 C A 5: 137,293,545 (GRCm39) P165Q possibly damaging Het
Usp19 T G 9: 108,371,894 (GRCm39) L390R probably damaging Het
Vegfc G T 8: 54,634,338 (GRCm39) C339F probably damaging Het
Vmn2r6 A T 3: 64,463,549 (GRCm39) N428K possibly damaging Het
Wdr11 T G 7: 129,210,647 (GRCm39) V517G probably damaging Het
Xkr4 T A 1: 3,286,519 (GRCm39) D557V probably benign Het
Zan C A 5: 137,379,119 (GRCm39) C5327F unknown Het
Zfp770 A T 2: 114,026,949 (GRCm39) N373K 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
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
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'- ATGCTAGGATCATGCCCCTAATG -3'
(R):5'- ATGCTGTGTTGAACATTGTCC -3'

Sequencing Primer
(F):5'- AATGCTATATACCTCTGTGTGCAGG -3'
(R):5'- GTCCTTCACTACCACTGACAGGAG -3'
Posted On 2022-10-06