Incidental Mutation 'R9614:Itgad'
ID 724446
Institutional Source Beutler Lab
Gene Symbol Itgad
Ensembl Gene ENSMUSG00000070369
Gene Name integrin, alpha D
Synonyms Cd11d
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R9614 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 127773105-127822988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127803022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 1059 (T1059S)
Ref Sequence ENSEMBL: ENSMUSP00000135572 (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: T1095S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033051
Gene: ENSMUSG00000070369
AA Change: T1095S

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: T1061S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101844
Gene: ENSMUSG00000070369
AA Change: T1061S

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 benign
Transcript: ENSMUST00000176249
SMART Domains Protein: ENSMUSP00000135309
Gene: ENSMUSG00000070369

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: T1059S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135572
Gene: ENSMUSG00000070369
AA Change: T1059S

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 benign
Transcript: ENSMUST00000177383
SMART Domains Protein: ENSMUSP00000135104
Gene: ENSMUSG00000070369

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: ENSMUST00000205522
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205646
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C T 19: 3,767,364 (GRCm39) T317I possibly damaging Het
Adamts7 T A 9: 90,077,251 (GRCm39) V1306E probably damaging Het
Adcy9 C T 16: 4,106,547 (GRCm39) D1093N probably damaging Het
Adgra3 A G 5: 50,164,250 (GRCm39) V243A probably damaging Het
Aqp4 C T 18: 15,526,687 (GRCm39) A265T probably benign Het
Atad2 A T 15: 57,970,119 (GRCm39) probably null Het
Atp13a4 A G 16: 29,260,398 (GRCm39) V560A Het
Best2 A C 8: 85,740,051 (GRCm39) C38G Het
Bicra A T 7: 15,705,880 (GRCm39) S1520R probably damaging Het
C1s2 A G 6: 124,602,588 (GRCm39) L541P probably damaging Het
Calcoco2 T A 11: 95,991,185 (GRCm39) H184L probably benign Het
Cav1 A T 6: 17,339,403 (GRCm39) I163F probably benign Het
Cep57l1 T C 10: 41,597,563 (GRCm39) H356R probably damaging Het
Clu A C 14: 66,208,851 (GRCm39) H32P unknown Het
Col5a1 T A 2: 27,879,186 (GRCm39) D840E unknown Het
Cramp1 C A 17: 25,201,783 (GRCm39) K566N probably damaging Het
Csmd1 C A 8: 16,208,239 (GRCm39) V1239L probably benign Het
Cubn T A 2: 13,482,945 (GRCm39) Q267L probably benign Het
Cul7 C T 17: 46,975,212 (GRCm39) R1689W probably damaging Het
Dao A T 5: 114,152,060 (GRCm39) D126V probably benign Het
Eif3l T C 15: 78,978,423 (GRCm39) M560T probably benign Het
F830016B08Rik T A 18: 60,433,379 (GRCm39) I154N probably damaging Het
Fam184a T C 10: 53,517,144 (GRCm39) E980G probably damaging Het
Fgf21 T C 7: 45,264,703 (GRCm39) T10A probably benign Het
Fhad1 A C 4: 141,678,882 (GRCm39) V598G possibly damaging Het
Foxc1 A T 13: 31,991,863 (GRCm39) I225F possibly damaging Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Galnt9 G A 5: 110,744,047 (GRCm39) G294S probably damaging Het
Gp5 A C 16: 30,128,393 (GRCm39) F94V probably damaging Het
Idh2 A T 7: 79,747,925 (GRCm39) Y258* probably null Het
Immp2l T C 12: 41,160,933 (GRCm39) V77A probably damaging Het
Isl1 T C 13: 116,441,924 (GRCm39) E103G Het
Kcnj6 G A 16: 94,633,307 (GRCm39) T268I probably damaging Het
Lgals3bp A G 11: 118,284,037 (GRCm39) V514A probably benign Het
Mcfd2 A T 17: 87,565,421 (GRCm39) H27Q probably benign Het
Mettl13 A G 1: 162,364,769 (GRCm39) W537R probably damaging Het
Mybl2 G T 2: 162,906,225 (GRCm39) G102V probably damaging Het
Nars2 C T 7: 96,689,125 (GRCm39) T349M probably damaging Het
Nat8f3 A T 6: 85,738,708 (GRCm39) V18E Het
Npepps T C 11: 97,149,177 (GRCm39) E115G probably benign Het
Odad3 T C 9: 21,904,310 (GRCm39) D322G probably benign Het
Oog2 T A 4: 143,922,707 (GRCm39) V324E probably damaging Het
Or2y12 T A 11: 49,426,071 (GRCm39) W20R probably damaging Het
Or7g12 A T 9: 18,899,526 (GRCm39) M81L possibly damaging Het
Or8d2b G A 9: 38,789,281 (GRCm39) V270M probably damaging Het
Or8j3b A G 2: 86,205,012 (GRCm39) V248A probably damaging Het
Pdzd2 A G 15: 12,375,486 (GRCm39) S1550P probably damaging Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pms2 T C 5: 143,854,420 (GRCm39) V243A probably benign Het
Ptpn9 A G 9: 56,944,005 (GRCm39) D293G probably benign Het
Ptprb A G 10: 116,203,441 (GRCm39) K1784R probably damaging Het
Rab23 CAA CA 1: 33,764,077 (GRCm39) probably null Het
Raf1 T C 6: 115,596,597 (GRCm39) N576D probably benign Het
Rasa4 C A 5: 136,140,343 (GRCm39) H782Q possibly damaging Het
Rims1 C A 1: 22,491,969 (GRCm39) E168* probably null Het
Rpgrip1l A T 8: 91,987,434 (GRCm39) N874K possibly damaging Het
Rxfp4 C T 3: 88,559,969 (GRCm39) V161I possibly damaging Het
Scel G A 14: 103,843,032 (GRCm39) G558D probably damaging Het
Sipa1l2 T C 8: 126,196,565 (GRCm39) K723R probably null Het
Slc12a1 A T 2: 125,002,445 (GRCm39) R142W probably damaging Het
Slc27a2 T A 2: 126,409,736 (GRCm39) V306D probably damaging Het
Sox4 C T 13: 29,136,079 (GRCm39) G309D probably damaging Het
Terb1 T C 8: 105,223,476 (GRCm39) T111A probably benign Het
Tgfa G A 6: 86,248,397 (GRCm39) R133H probably damaging Het
Ticrr T C 7: 79,345,754 (GRCm39) S1836P probably damaging Het
Tlk2 A G 11: 105,138,328 (GRCm39) D292G probably benign Het
Tmc7 A G 7: 118,141,160 (GRCm39) I657T probably benign Het
Tmprss11c G A 5: 86,383,379 (GRCm39) T349I probably benign Het
Trhr A G 15: 44,060,981 (GRCm39) N167S probably benign Het
Tsc22d1 T G 14: 76,653,983 (GRCm39) I154S probably damaging Het
Vmn1r2 T C 4: 3,172,587 (GRCm39) Y169H probably damaging Het
Vmn1r77 G T 7: 11,775,766 (GRCm39) V181L 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
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
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'- CCTGGATGAGCTTGACTTCATTCTG -3'
(R):5'- GCATTCTGAGGGTCTAGGAAC -3'

Sequencing Primer
(F):5'- GCCAATAGCAGAAGTCCTC -3'
(R):5'- GGGTCTAGGAACCTCTACCCTC -3'
Posted On 2022-09-12