Incidental Mutation 'R4931:Itgad'
ID 380563
Institutional Source Beutler Lab
Gene Symbol Itgad
Ensembl Gene ENSMUSG00000070369
Gene Name integrin, alpha D
Synonyms Cd11d
MMRRC Submission 042532-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4931 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127773105-127822988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127803797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 64 (I64F)
Ref Sequence ENSEMBL: ENSMUSP00000135104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033049] [ENSMUST00000033051] [ENSMUST00000106237] [ENSMUST00000176249] [ENSMUST00000177111] [ENSMUST00000177383]
AlphaFold Q3V0T4
Predicted Effect probably benign
Transcript: ENSMUST00000033049
SMART Domains Protein: ENSMUSP00000033049
Gene: ENSMUSG00000030785

DomainStartEndE-ValueType
Pfam:COX6A 10 90 4.8e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000033051
AA Change: I1159F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033051
Gene: ENSMUSG00000070369
AA Change: I1159F

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: I1125F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101844
Gene: ENSMUSG00000070369
AA Change: I1125F

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: ENSMUST00000176249
AA Change: I57F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135309
Gene: ENSMUSG00000070369
AA Change: I57F

DomainStartEndE-ValueType
PDB:3K72|C 1 37 5e-11 PDB
transmembrane domain 40 62 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177111
AA Change: I1123F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135572
Gene: ENSMUSG00000070369
AA Change: I1123F

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
Predicted Effect probably damaging
Transcript: ENSMUST00000177383
AA Change: I64F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135104
Gene: ENSMUSG00000070369
AA Change: I64F

DomainStartEndE-ValueType
PDB:3K72|C 2 34 1e-9 PDB
transmembrane domain 47 69 N/A INTRINSIC
Pfam:Integrin_alpha 70 84 2.9e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205522
Meta Mutation Damage Score 0.1432 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (78/82)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,643,875 (GRCm39) D21G probably benign Het
4930562C15Rik T C 16: 4,678,910 (GRCm39) L68P possibly damaging Het
Ache A G 5: 137,290,176 (GRCm39) I414V probably benign Het
Acy1 G A 9: 106,310,390 (GRCm39) H308Y probably damaging Het
Aldh1b1 A C 4: 45,803,661 (GRCm39) I400L probably benign Het
Ankrd40 T A 11: 94,225,647 (GRCm39) L226Q probably benign Het
B3gnt9 T C 8: 105,980,876 (GRCm39) T171A probably benign Het
Ccdc33 T C 9: 57,977,134 (GRCm39) Y289C probably damaging Het
Cd209f A T 8: 4,153,688 (GRCm39) I187N probably damaging Het
Cers6 T G 2: 68,935,456 (GRCm39) S319A probably damaging Het
Chrna4 A G 2: 180,670,665 (GRCm39) S364P probably benign Het
Chrnb3 T C 8: 27,884,258 (GRCm39) S317P probably damaging Het
Dapk1 T C 13: 60,908,774 (GRCm39) V1129A probably benign Het
Dhx9 G A 1: 153,348,419 (GRCm39) P302L probably benign Het
Dnaaf9 A G 2: 130,583,793 (GRCm39) F496L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Duox2 T C 2: 122,127,236 (GRCm39) N147S probably benign Het
Dytn T G 1: 63,672,837 (GRCm39) E522A probably benign Het
E130114P18Rik T C 4: 97,608,524 (GRCm39) D27G unknown Het
Egf A G 3: 129,505,117 (GRCm39) F118S probably damaging Het
Eif2d T A 1: 131,082,128 (GRCm39) F73L probably damaging Het
Eps8l1 A G 7: 4,474,240 (GRCm39) E237G possibly damaging Het
Espl1 A G 15: 102,214,165 (GRCm39) E664G probably benign Het
Fbrsl1 A T 5: 110,526,895 (GRCm39) S373T possibly damaging Het
Fras1 T A 5: 96,784,699 (GRCm39) F894Y probably benign Het
Gpatch8 T C 11: 102,372,050 (GRCm39) E496G unknown Het
Gucy1a2 A G 9: 3,759,588 (GRCm39) K465E probably damaging Het
Igdcc4 A G 9: 65,031,297 (GRCm39) T459A possibly damaging Het
Itgb2l T A 16: 96,238,649 (GRCm39) N50I probably damaging Het
Kif13a A G 13: 46,962,531 (GRCm39) I478T probably damaging Het
Krt31 G A 11: 99,940,983 (GRCm39) T109I probably benign Het
Ltbr G T 6: 125,284,437 (GRCm39) probably null Het
Magel2 A G 7: 62,030,372 (GRCm39) D1092G unknown Het
Minar1 T C 9: 89,483,705 (GRCm39) H564R probably benign Het
Mindy3 A T 2: 12,401,024 (GRCm39) N231K probably damaging Het
Mpnd T G 17: 56,319,362 (GRCm39) probably benign Het
Mtus2 C T 5: 148,014,226 (GRCm39) L340F probably benign Het
Nanog G A 6: 122,684,865 (GRCm39) A17T possibly damaging Het
Ndufa9 G T 6: 126,813,283 (GRCm39) A181E probably damaging Het
Or52z14 T G 7: 103,253,581 (GRCm39) L240R probably benign Het
Or7e175 A T 9: 20,048,858 (GRCm39) I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Pramel18 T C 4: 101,766,367 (GRCm39) V17A possibly damaging Het
Prkacb T C 3: 146,453,732 (GRCm39) I211V possibly damaging Het
Ptpn14 C G 1: 189,583,474 (GRCm39) L774V probably benign Het
Rad1 T C 15: 10,492,848 (GRCm39) probably benign Het
Rims1 G T 1: 22,573,028 (GRCm39) P391Q probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sf3b3 C T 8: 111,542,961 (GRCm39) R832Q probably benign Het
Slc12a2 A G 18: 58,068,035 (GRCm39) D975G possibly damaging Het
Slitrk6 A G 14: 110,987,811 (GRCm39) L632P probably damaging Het
Spire2 A G 8: 124,095,523 (GRCm39) D542G possibly damaging Het
Sppl3 A T 5: 115,220,373 (GRCm39) Q95L probably damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Tcl1 G T 12: 105,188,872 (GRCm39) H14N probably damaging Het
Ten1 T C 11: 116,096,555 (GRCm39) F70L probably benign Het
Tnfrsf13b A T 11: 61,031,763 (GRCm39) T35S possibly damaging Het
Tpcn2 G A 7: 144,821,046 (GRCm39) P336L probably benign Het
Trf C A 9: 103,105,247 (GRCm39) D22Y probably damaging Het
Ttyh1 A G 7: 4,136,943 (GRCm39) probably benign Het
Vmn2r103 A T 17: 20,032,031 (GRCm39) I602F probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp352 A G 4: 90,112,541 (GRCm39) Y227C probably damaging Het
Zfp599 A T 9: 22,169,419 (GRCm39) W18R probably damaging 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
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
R7027:Itgad UTSW 7 127,782,161 (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'- GCGCATATGTACATGTGTATATGAC -3'
(R):5'- GCTTCAGTTTAGCCATTCTGTG -3'

Sequencing Primer
(F):5'- TGCGCACATGCATGCAC -3'
(R):5'- TCAGTTTAGCCATTCTGTGATATAAC -3'
Posted On 2016-04-15