Incidental Mutation 'R7027:Itgad'
ID 546047
Institutional Source Beutler Lab
Gene Symbol Itgad
Ensembl Gene ENSMUSG00000070369
Gene Name integrin, alpha D
Synonyms Cd11d
MMRRC Submission 045128-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R7027 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 127773105-127822988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127782161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 199 (Y199C)
Ref Sequence ENSEMBL: ENSMUSP00000135572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033051] [ENSMUST00000106237] [ENSMUST00000177111]
AlphaFold Q3V0T4
Predicted Effect probably damaging
Transcript: ENSMUST00000033051
AA Change: Y199C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033051
Gene: ENSMUSG00000070369
AA Change: Y199C

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Int_alpha 38 88 1.35e1 SMART
VWA 155 376 1.24e-36 SMART
Blast:VWA 405 436 1e-9 BLAST
Int_alpha 443 492 3.67e-3 SMART
Int_alpha 496 553 1.03e-6 SMART
Int_alpha 559 615 1.73e-13 SMART
Int_alpha 622 676 1.69e-2 SMART
transmembrane domain 1142 1164 N/A INTRINSIC
Pfam:Integrin_alpha 1165 1179 1.3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106237
AA Change: Y201C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101844
Gene: ENSMUSG00000070369
AA Change: Y201C

DomainStartEndE-ValueType
Int_alpha 40 90 1.35e1 SMART
VWA 157 342 1.31e-44 SMART
Blast:VWA 371 402 9e-10 BLAST
Int_alpha 409 458 3.67e-3 SMART
Int_alpha 462 519 1.03e-6 SMART
Int_alpha 525 581 1.73e-13 SMART
Int_alpha 588 642 1.69e-2 SMART
transmembrane domain 1108 1130 N/A INTRINSIC
Pfam:Integrin_alpha 1131 1145 4.3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177111
AA Change: Y199C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135572
Gene: ENSMUSG00000070369
AA Change: Y199C

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Int_alpha 38 88 1.35e1 SMART
VWA 155 340 1.31e-44 SMART
Blast:VWA 369 400 9e-10 BLAST
Int_alpha 407 456 3.67e-3 SMART
Int_alpha 460 517 1.03e-6 SMART
Int_alpha 523 579 1.73e-13 SMART
Int_alpha 586 640 1.69e-2 SMART
transmembrane domain 1106 1128 N/A INTRINSIC
Pfam:Integrin_alpha 1129 1143 5.4e-7 PFAM
Meta Mutation Damage Score 0.2950 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (85/87)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the integrin subunit alpha X gene, another member of the integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous null mice exhibit a reduced staphylococcal enterotoxin-induced T cell response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A T 2: 127,852,003 (GRCm39) M102L probably benign Het
Adcy10 A G 1: 165,345,815 (GRCm39) E288G probably damaging Het
Agap1 A G 1: 89,816,444 (GRCm39) H748R probably benign Het
Ahsg T C 16: 22,711,007 (GRCm39) L48P probably damaging Het
Ankrd27 A G 7: 35,311,951 (GRCm39) T394A probably benign Het
Apc T G 18: 34,445,129 (GRCm39) V657G probably damaging Het
Arl2 T C 19: 6,191,119 (GRCm39) T5A probably benign Het
B020011L13Rik A G 1: 117,729,180 (GRCm39) Y229C probably benign Het
B3gnt5 T A 16: 19,588,740 (GRCm39) S320T probably damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
BC107364 T G 3: 96,348,057 (GRCm39) R77S unknown Het
Brox G A 1: 183,065,750 (GRCm39) P206L possibly damaging Het
Ccrl2 T C 9: 110,884,953 (GRCm39) K182E probably benign Het
Cd19 A G 7: 126,009,671 (GRCm39) V465A possibly damaging Het
Chrdl2 A T 7: 99,671,240 (GRCm39) Q126H probably damaging Het
Cnbd1 G A 4: 18,862,063 (GRCm39) P376S probably benign Het
Cobll1 A G 2: 64,919,847 (GRCm39) S1194P probably benign Het
Col6a4 T C 9: 105,944,213 (GRCm39) Y1087C probably damaging Het
Col9a2 G A 4: 120,901,216 (GRCm39) probably null Het
Cyp4v3 A G 8: 45,763,289 (GRCm39) S341P possibly damaging Het
Dnah7a T A 1: 53,670,665 (GRCm39) Y529F probably benign Het
Eif3b C T 5: 140,411,043 (GRCm39) R165W probably damaging Het
Erlec1 C A 11: 30,900,790 (GRCm39) C126F probably damaging Het
Fads2b A G 2: 85,315,871 (GRCm39) Y440H probably damaging Het
Fat2 T C 11: 55,160,259 (GRCm39) T3285A probably benign Het
Fat2 G A 11: 55,172,677 (GRCm39) R2679* probably null Het
Fbxo31 T C 8: 122,305,224 (GRCm39) T91A probably damaging Het
Fkbp5 A G 17: 28,631,037 (GRCm39) Y243H probably damaging Het
Flcn C T 11: 59,686,632 (GRCm39) V374M probably damaging Het
Fndc5 A G 4: 129,033,316 (GRCm39) M128V probably benign Het
Gal3st1 A G 11: 3,949,002 (GRCm39) D403G probably damaging Het
Garem1 T C 18: 21,263,051 (GRCm39) N588D probably benign Het
Gas1 T C 13: 60,324,047 (GRCm39) T196A probably damaging Het
Gcn1 T C 5: 115,754,605 (GRCm39) probably null Het
Gprc5d T G 6: 135,093,646 (GRCm39) Q87P probably damaging Het
Grm1 A G 10: 10,595,339 (GRCm39) L763P probably damaging Het
Hivep2 G T 10: 14,025,321 (GRCm39) K2378N probably damaging Het
Hivep2 G T 10: 14,025,322 (GRCm39) D2379Y probably damaging Het
Itm2c A G 1: 85,834,206 (GRCm39) I174V probably benign Het
Khdrbs2 A G 1: 32,453,997 (GRCm39) S128G probably benign Het
Map3k9 T C 12: 81,777,398 (GRCm39) T528A probably benign Het
Mmp11 G A 10: 75,768,230 (GRCm39) probably benign Het
Mycbpap T A 11: 94,405,440 (GRCm39) I30F probably damaging Het
Nfya T C 17: 48,696,340 (GRCm39) T335A probably benign Het
Npat T A 9: 53,481,216 (GRCm39) S1008T possibly damaging Het
Or10al5 G A 17: 38,063,300 (GRCm39) C185Y probably damaging Het
Or12e10 A G 2: 87,641,060 (GRCm39) T299A possibly damaging Het
Or5p69 A T 7: 107,967,557 (GRCm39) M287L probably damaging Het
Or6c219 C T 10: 129,781,041 (GRCm39) A297T possibly damaging Het
Osbpl10 T C 9: 115,052,766 (GRCm39) V613A probably damaging Het
Pcdhga8 T C 18: 37,860,164 (GRCm39) W407R probably benign Het
Pcdhgb4 A G 18: 37,854,415 (GRCm39) D270G probably damaging Het
Pde2a A C 7: 101,160,804 (GRCm39) E918D probably damaging Het
Plekhg5 A G 4: 152,198,431 (GRCm39) D873G probably benign Het
Pno1 A T 11: 17,158,880 (GRCm39) S173T possibly damaging Het
Ppfia3 A G 7: 45,004,160 (GRCm39) I494T possibly damaging Het
Prkrip1 C A 5: 136,210,267 (GRCm39) probably benign Het
Psma5 A G 3: 108,172,484 (GRCm39) I67V probably benign Het
Reep6 G A 10: 80,169,799 (GRCm39) probably null Het
Rtl1 CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC 12: 109,557,848 (GRCm39) probably benign Het
Scyl2 C G 10: 89,481,323 (GRCm39) probably null Het
Sdk1 T A 5: 142,082,481 (GRCm39) probably null Het
Senp5 C A 16: 31,808,113 (GRCm39) K380N probably benign Het
Slc22a14 A T 9: 119,060,281 (GRCm39) probably null Het
Slc26a5 T A 5: 22,021,972 (GRCm39) T485S possibly damaging Het
Slc44a5 T C 3: 153,959,356 (GRCm39) I349T probably benign Het
Smarca5 T C 8: 81,463,355 (GRCm39) E71G probably benign Het
Smok2a A T 17: 13,444,666 (GRCm39) H81L probably damaging Het
Snrnp200 A G 2: 127,059,192 (GRCm39) D388G probably benign Het
Tank T C 2: 61,483,766 (GRCm39) V404A probably benign Het
Tek A G 4: 94,753,747 (GRCm39) D1063G probably damaging Het
Tfap2a C T 13: 40,887,150 (GRCm39) C16Y probably benign Het
Tmc1 A G 19: 20,918,267 (GRCm39) probably null Het
Tnc A G 4: 63,902,826 (GRCm39) F1484L probably benign Het
Tnfsf13 T A 11: 69,575,958 (GRCm39) probably null Het
Tnrc6c T A 11: 117,624,444 (GRCm39) S919T probably damaging Het
Trim17 C A 11: 58,859,442 (GRCm39) Q219K probably benign Het
Trim5 T A 7: 103,914,875 (GRCm39) H389L probably benign Het
Trio T A 15: 27,805,740 (GRCm39) M583L possibly damaging Het
Ttll10 A T 4: 156,120,258 (GRCm39) H389Q possibly damaging Het
Usp24 T C 4: 106,219,441 (GRCm39) S546P probably benign Het
Vmn1r19 T A 6: 57,381,475 (GRCm39) Y9* probably null Het
Vmn2r50 T A 7: 9,781,539 (GRCm39) D402V probably damaging Het
Vmn2r93 C A 17: 18,533,548 (GRCm39) A484E probably benign Het
Vps13a T C 19: 16,642,028 (GRCm39) T2200A probably benign Het
Wdr36 T A 18: 32,974,958 (GRCm39) H103Q probably benign Het
Zfp534 G A 4: 147,759,667 (GRCm39) T334I possibly damaging Het
Zfp804b C T 5: 6,820,372 (GRCm39) S897N probably benign Het
Other mutations in Itgad
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Itgad APN 7 127,803,022 (GRCm39) missense probably damaging 0.99
IGL02036:Itgad APN 7 127,788,993 (GRCm39) missense possibly damaging 0.49
IGL02589:Itgad APN 7 127,780,883 (GRCm39) missense probably damaging 1.00
IGL02648:Itgad APN 7 127,782,546 (GRCm39) intron probably benign
IGL02735:Itgad APN 7 127,792,888 (GRCm39) missense probably damaging 1.00
IGL03088:Itgad APN 7 127,802,204 (GRCm39) missense probably benign 0.01
IGL03110:Itgad APN 7 127,785,157 (GRCm39) missense probably damaging 1.00
BB007:Itgad UTSW 7 127,782,280 (GRCm39) missense probably benign 0.01
BB017:Itgad UTSW 7 127,782,280 (GRCm39) missense probably benign 0.01
R0060:Itgad UTSW 7 127,802,158 (GRCm39) missense probably damaging 1.00
R0060:Itgad UTSW 7 127,802,158 (GRCm39) missense probably damaging 1.00
R0184:Itgad UTSW 7 127,788,403 (GRCm39) missense probably benign 0.02
R0211:Itgad UTSW 7 127,803,813 (GRCm39) missense probably damaging 1.00
R0211:Itgad UTSW 7 127,803,813 (GRCm39) missense probably damaging 1.00
R0282:Itgad UTSW 7 127,789,150 (GRCm39) splice site probably benign
R0326:Itgad UTSW 7 127,797,550 (GRCm39) missense probably benign 0.00
R0646:Itgad UTSW 7 127,773,176 (GRCm39) missense possibly damaging 0.89
R0947:Itgad UTSW 7 127,774,865 (GRCm39) missense probably benign 0.08
R1439:Itgad UTSW 7 127,782,178 (GRCm39) missense probably benign 0.44
R1454:Itgad UTSW 7 127,791,309 (GRCm39) missense probably benign 0.02
R1503:Itgad UTSW 7 127,797,293 (GRCm39) missense probably benign 0.00
R1531:Itgad UTSW 7 127,777,542 (GRCm39) missense probably benign 0.00
R1572:Itgad UTSW 7 127,802,406 (GRCm39) missense probably damaging 1.00
R1602:Itgad UTSW 7 127,790,111 (GRCm39) missense probably damaging 1.00
R1732:Itgad UTSW 7 127,804,279 (GRCm39) missense probably benign
R2278:Itgad UTSW 7 127,804,342 (GRCm39) missense possibly damaging 0.93
R2851:Itgad UTSW 7 127,803,732 (GRCm39) missense probably benign 0.01
R3029:Itgad UTSW 7 127,777,543 (GRCm39) missense possibly damaging 0.85
R3080:Itgad UTSW 7 127,784,959 (GRCm39) missense possibly damaging 0.48
R3150:Itgad UTSW 7 127,790,153 (GRCm39) missense possibly damaging 0.64
R3176:Itgad UTSW 7 127,790,153 (GRCm39) missense possibly damaging 0.64
R3177:Itgad UTSW 7 127,790,153 (GRCm39) missense possibly damaging 0.64
R3276:Itgad UTSW 7 127,790,153 (GRCm39) missense possibly damaging 0.64
R3277:Itgad UTSW 7 127,790,153 (GRCm39) missense possibly damaging 0.64
R3833:Itgad UTSW 7 127,785,405 (GRCm39) missense probably damaging 1.00
R4541:Itgad UTSW 7 127,797,287 (GRCm39) missense probably benign 0.13
R4649:Itgad UTSW 7 127,788,703 (GRCm39) missense probably benign 0.01
R4753:Itgad UTSW 7 127,822,875 (GRCm39) makesense probably null
R4852:Itgad UTSW 7 127,797,702 (GRCm39) missense probably damaging 1.00
R4931:Itgad UTSW 7 127,803,797 (GRCm39) missense probably damaging 1.00
R4970:Itgad UTSW 7 127,789,015 (GRCm39) missense possibly damaging 0.70
R5116:Itgad UTSW 7 127,803,065 (GRCm39) missense probably damaging 1.00
R5183:Itgad UTSW 7 127,797,395 (GRCm39) critical splice donor site probably null
R5233:Itgad UTSW 7 127,792,600 (GRCm39) splice site probably null
R5334:Itgad UTSW 7 127,788,458 (GRCm39) missense probably damaging 0.99
R5731:Itgad UTSW 7 127,797,726 (GRCm39) missense probably benign 0.19
R5760:Itgad UTSW 7 127,802,537 (GRCm39) missense probably benign 0.02
R5896:Itgad UTSW 7 127,773,188 (GRCm39) missense probably benign 0.34
R5955:Itgad UTSW 7 127,788,653 (GRCm39) missense probably benign 0.00
R6247:Itgad UTSW 7 127,784,959 (GRCm39) missense possibly damaging 0.48
R6659:Itgad UTSW 7 127,785,120 (GRCm39) missense probably damaging 1.00
R7104:Itgad UTSW 7 127,797,550 (GRCm39) missense probably benign 0.00
R7120:Itgad UTSW 7 127,773,146 (GRCm39) start codon destroyed probably null 0.02
R7272:Itgad UTSW 7 127,804,245 (GRCm39) missense probably damaging 1.00
R7303:Itgad UTSW 7 127,789,351 (GRCm39) missense probably benign
R7324:Itgad UTSW 7 127,788,979 (GRCm39) missense probably damaging 1.00
R7565:Itgad UTSW 7 127,782,187 (GRCm39) missense probably damaging 0.98
R7566:Itgad UTSW 7 127,791,279 (GRCm39) missense probably benign 0.40
R7930:Itgad UTSW 7 127,782,280 (GRCm39) missense probably benign 0.01
R8550:Itgad UTSW 7 127,803,064 (GRCm39) missense probably damaging 0.98
R8816:Itgad UTSW 7 127,797,542 (GRCm39) nonsense probably null
R8849:Itgad UTSW 7 127,789,157 (GRCm39) splice site probably benign
R8952:Itgad UTSW 7 127,789,324 (GRCm39) missense probably damaging 1.00
R9345:Itgad UTSW 7 127,788,479 (GRCm39) missense probably benign 0.02
R9354:Itgad UTSW 7 127,785,146 (GRCm39) missense probably damaging 1.00
R9526:Itgad UTSW 7 127,777,552 (GRCm39) missense probably benign 0.09
R9614:Itgad UTSW 7 127,803,022 (GRCm39) missense probably damaging 0.99
R9623:Itgad UTSW 7 127,803,723 (GRCm39) missense probably damaging 1.00
R9773:Itgad UTSW 7 127,789,222 (GRCm39) missense probably damaging 0.97
RF019:Itgad UTSW 7 127,791,380 (GRCm39) missense probably benign 0.08
Z1176:Itgad UTSW 7 127,789,259 (GRCm39) missense probably damaging 1.00
Z1177:Itgad UTSW 7 127,788,673 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAAGCAAGTGAGTGAGGTTTTC -3'
(R):5'- TTGGAGACCACGTCTGAGAC -3'

Sequencing Primer
(F):5'- GAGAATCAACGCCTGAGTGTTTTTC -3'
(R):5'- GACCACGTCTGAGACAGCAG -3'
Posted On 2019-05-13