Mutagenetix > Incidental Mutation

Incidental Mutation 'R9526:Itgad'

719236

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 #

R9526 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127773105-127822988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127777552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 144 (I144T)

Ref Sequence

ENSEMBL: ENSMUSP00000033051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033051] [ENSMUST00000106237] [ENSMUST00000177111]

AlphaFold

Q3V0T4

Predicted Effect

probably benign
Transcript: ENSMUST00000033051
AA Change: I144T

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000033051
Gene: ENSMUSG00000070369
AA Change: I144T

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000106237
AA Change: I146T

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101844
Gene: ENSMUSG00000070369
AA Change: I146T

Domain	Start	End	E-Value	Type
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: ENSMUST00000177111
AA Change: I144T

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135572
Gene: ENSMUSG00000070369
AA Change: I144T

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,230,393 (GRCm39)	L287S	probably damaging	Het
Adgrf1	A	T	17: 43,616,237 (GRCm39)	Q292L	possibly damaging	Het
Arhgap32	A	G	9: 32,172,026 (GRCm39)	D1602G	probably benign	Het
Atrnl1	C	T	19: 57,617,551 (GRCm39)	P109S	probably damaging	Het
Camsap1	G	A	2: 25,843,962 (GRCm39)	H230Y	probably benign	Het
Capns1	C	T	7: 29,891,612 (GRCm39)	C144Y	probably damaging	Het
Ccdc17	G	A	4: 116,455,994 (GRCm39)	V341I	possibly damaging	Het
Cd36	T	C	5: 18,002,033 (GRCm39)	T323A	probably damaging	Het
Cdc14a	CGCTGCTGCTGCTGCTGCTG	CGCTGCTGCTGCTGCTG	3: 116,087,509 (GRCm39)		probably benign	Het
Ckap2l	G	A	2: 129,111,161 (GRCm39)	Q679*	probably null	Het
Clec4g	T	A	8: 3,768,565 (GRCm39)	N93I	probably benign	Het
Cntnap2	T	A	6: 45,992,165 (GRCm39)	L364Q	probably damaging	Het
Cul9	A	G	17: 46,841,026 (GRCm39)	M748T	probably benign	Het
Dnah11	A	T	12: 118,150,711 (GRCm39)	I349N	probably damaging	Het
Dnajc14	T	A	10: 128,642,260 (GRCm39)	Y61N	probably benign	Het
Dock6	A	T	9: 21,713,802 (GRCm39)	Y1909*	probably null	Het
Dock8	T	A	19: 25,165,739 (GRCm39)	D1874E	probably benign	Het
Dpm1	A	G	2: 168,072,210 (GRCm39)	S22P	probably benign	Het
Dysf	T	C	6: 84,128,885 (GRCm39)	L1385P	probably damaging	Het
Egf	T	C	3: 129,491,421 (GRCm39)	T859A	probably benign	Het
Eif2b1	A	T	5: 124,711,867 (GRCm39)	S162T	probably benign	Het
Emilin1	T	C	5: 31,075,484 (GRCm39)	L575P	probably damaging	Het
Erp27	T	A	6: 136,886,550 (GRCm39)	Q161L	probably benign	Het
Fbxw10	C	A	11: 62,765,945 (GRCm39)	D738E	possibly damaging	Het
Fcgbp	T	G	7: 27,790,937 (GRCm39)	C733G	probably damaging	Het
Fgb	T	A	3: 82,957,122 (GRCm39)		probably benign	Het
Gata3os	A	T	2: 9,887,634 (GRCm39)	T12S	unknown	Het
Got1l1	G	T	8: 27,688,503 (GRCm39)	Q283K	probably benign	Het
Grk2	G	A	19: 4,340,871 (GRCm39)	R226C	probably damaging	Het
Hoxa10	T	C	6: 52,211,334 (GRCm39)	D194G	probably benign	Het
Ipcef1	G	A	10: 6,840,620 (GRCm39)	T363I	probably damaging	Het
Itga10	C	A	3: 96,564,273 (GRCm39)	T922N	probably damaging	Het
Kat6b	C	A	14: 21,567,564 (GRCm39)	Q208K	possibly damaging	Het
Kidins220	T	G	12: 25,088,383 (GRCm39)	L1042R	probably damaging	Het
Kmt2c	T	C	5: 25,486,355 (GRCm39)	S4733G	probably damaging	Het
Lrig3	A	G	10: 125,850,736 (GRCm39)	I1101V	probably benign	Het
Lrp1	T	A	10: 127,431,229 (GRCm39)	N311I	probably damaging	Het
Man2a1	A	T	17: 64,958,310 (GRCm39)	K275I	probably benign	Het
Map3k10	T	A	7: 27,364,434 (GRCm39)	N318I	probably damaging	Het
Map3k8	G	A	18: 4,333,869 (GRCm39)	R408W	probably damaging	Het
Mast1	A	G	8: 85,647,805 (GRCm39)	M523T	probably damaging	Het
Mast4	T	C	13: 102,873,593 (GRCm39)	H1925R	probably benign	Het
Med12l	C	T	3: 58,984,207 (GRCm39)	S461L	probably damaging	Het
Mfap1a	T	C	2: 121,333,237 (GRCm39)	K65E	probably damaging	Het
Mical1	T	C	10: 41,358,602 (GRCm39)	S507P	probably benign	Het
Miga2	T	C	2: 30,268,400 (GRCm39)	V433A	unknown	Het
Mpdz	T	C	4: 81,274,653 (GRCm39)	T848A	probably benign	Het
Mycn	A	G	12: 12,989,778 (GRCm39)	V206A	probably benign	Het
Ndst1	G	A	18: 60,838,220 (GRCm39)	Q342*	probably null	Het
Nectin1	A	G	9: 43,702,369 (GRCm39)	M39V	probably benign	Het
Nectin4	A	T	1: 171,210,209 (GRCm39)	R234*	probably null	Het
Ngb	C	G	12: 87,145,317 (GRCm39)	V113L	possibly damaging	Het
Nphp3	T	A	9: 103,913,337 (GRCm39)	Y990N	probably damaging	Het
Nrdc	T	C	4: 108,915,833 (GRCm39)		probably null	Het
Or10a2	A	T	7: 106,673,739 (GRCm39)	K235*	probably null	Het
Or1e23	T	A	11: 73,407,351 (GRCm39)	I225F	probably damaging	Het
Or5p60	T	A	7: 107,723,801 (GRCm39)	Y223F	probably benign	Het
Osbpl6	A	G	2: 76,415,603 (GRCm39)	Y655C	probably damaging	Het
Pcdhgb4	A	G	18: 37,855,882 (GRCm39)	Q759R	probably benign	Het
Pcsk4	T	C	10: 80,161,800 (GRCm39)	D164G	probably damaging	Het
Pde4d	T	A	13: 110,071,915 (GRCm39)	I303N	probably damaging	Het
Pdf	T	A	8: 107,774,972 (GRCm39)	M87L	probably benign	Het
Pigb	A	G	9: 72,941,840 (GRCm39)	S140P	probably damaging	Het
Plch1	T	A	3: 63,758,549 (GRCm39)		probably benign	Het
Plxna1	G	T	6: 89,319,633 (GRCm39)	D557E	probably benign	Het
Polr2e	C	T	10: 79,872,792 (GRCm39)	V149M	probably benign	Het
Polr3a	A	T	14: 24,503,313 (GRCm39)	C1174S	probably benign	Het
Prb1c	T	A	6: 132,338,891 (GRCm39)	N109I	unknown	Het
Psmd2	T	A	16: 20,474,369 (GRCm39)	S308R	probably benign	Het
Ptger1	T	A	8: 84,396,002 (GRCm39)	V353E	probably damaging	Het
Ptprc	A	G	1: 137,996,111 (GRCm39)	M940T	probably benign	Het
Pus7l	T	C	15: 94,425,781 (GRCm39)	N540S	probably damaging	Het
Rap1gds1	T	A	3: 138,756,317 (GRCm39)	I13L	probably benign	Het
Rasl10b	A	T	11: 83,303,590 (GRCm39)	N49I	probably damaging	Het
Rftn1	A	T	17: 50,301,237 (GRCm39)	N537K	probably benign	Het
Rnase4	A	G	14: 51,342,645 (GRCm39)	Y123C	probably damaging	Het
Rnf181	A	C	6: 72,338,302 (GRCm39)	N26K	probably benign	Het
Rnf31	G	A	14: 55,836,269 (GRCm39)		probably null	Het
Rpusd3	C	G	6: 113,393,200 (GRCm39)	C304S	unknown	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,664,270 (GRCm39)	V1694L	probably benign	Het
Sanbr	T	C	11: 23,559,098 (GRCm39)	Y372C	probably damaging	Het
Sephs2	T	C	7: 126,872,346 (GRCm39)	D249G	probably damaging	Het
Serpina10	A	G	12: 103,583,217 (GRCm39)	I409T	probably damaging	Het
Serpina5	C	T	12: 104,069,403 (GRCm39)	A205V	probably damaging	Het
Sfr1	T	A	19: 47,723,453 (GRCm39)	V319E	probably damaging	Het
Skil	T	A	3: 31,171,639 (GRCm39)	Y542N	probably benign	Het
Slc15a5	T	C	6: 138,049,954 (GRCm39)	T154A	probably benign	Het
Slc27a2	T	A	2: 126,429,846 (GRCm39)	L618Q	probably damaging	Het
Slc6a6	A	T	6: 91,726,808 (GRCm39)	Y483F	probably benign	Het
Sprr1b	T	C	3: 92,344,443 (GRCm39)	I144M	probably benign	Het
Stat5a	T	A	11: 100,771,161 (GRCm39)	V580E		Het
Tnk1	C	T	11: 69,746,011 (GRCm39)	D305N	probably damaging	Het
Tox2	A	G	2: 163,164,930 (GRCm39)	*523W	probably null	Het
Trav12-2	A	G	14: 53,854,085 (GRCm39)	N20D	probably benign	Het
Trav16	T	A	14: 53,981,046 (GRCm39)	N78K	probably damaging	Het
Trf	C	T	9: 103,104,130 (GRCm39)	A78T	probably damaging	Het
Ttn	A	G	2: 76,711,543 (GRCm39)		probably benign	Het
Vmn2r67	T	A	7: 84,785,834 (GRCm39)	M724L	probably benign	Het
Vmn2r94	A	T	17: 18,477,261 (GRCm39)	F383L	probably benign	Het
Vwa2	T	C	19: 56,895,208 (GRCm39)	S461P	probably benign	Het
Zfp991	G	A	4: 147,264,327 (GRCm39)	G568E	probably damaging	Het
Zfpl1	A	G	19: 6,134,440 (GRCm39)	F15S	probably damaging	Het

Other mutations in Itgad

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CCAGTTGCTGGTGAGTTCTC -3'
(R):5'- GCTAACCAGAATGTGCTCCC -3'

Sequencing Primer
(F):5'- TGGGTCACAGAAAGGTTGTG -3'
(R):5'- GAATGTGCTCCCACCCAC -3'

Posted On

2022-07-18