Mutagenetix > Incidental Mutation

Incidental Mutation 'R3150:Itgad'

271629

Institutional Source

Beutler Lab

Gene Symbol

Itgad

Ensembl Gene

ENSMUSG00000070369

Gene Name

integrin, alpha D

Synonyms

Cd11d

MMRRC Submission

040602-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R3150 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127773105-127822988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127790153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 651 (H651N)

Ref Sequence

ENSEMBL: ENSMUSP00000033051 (fasta)

Gene Model

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

AlphaFold

Q3V0T4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033051
AA Change: H651N

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033051
Gene: ENSMUSG00000070369
AA Change: H651N

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: H617N

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101844
Gene: ENSMUSG00000070369
AA Change: H617N

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: H615N

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135572
Gene: ENSMUSG00000070369
AA Change: H615N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205646

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	A	T	4: 63,313,590 (GRCm39)	S178T	possibly damaging	Het
Cabin1	A	G	10: 75,492,745 (GRCm39)	L1850P	probably damaging	Het
Ccdc178	G	T	18: 22,200,709 (GRCm39)	A416E	possibly damaging	Het
Ces1g	C	T	8: 94,052,444 (GRCm39)	V282I	probably benign	Het
Col4a3	T	G	1: 82,634,858 (GRCm39)		probably null	Het
Crat	C	T	2: 30,303,871 (GRCm39)		probably null	Het
Csf2ra	C	A	19: 61,215,758 (GRCm39)	A16S	possibly damaging	Het
Cspg4b	A	T	13: 113,488,294 (GRCm39)	Q105H	probably damaging	Het
Cyp4f18	T	C	8: 72,747,044 (GRCm39)	D317G	possibly damaging	Het
Ddb1	T	A	19: 10,590,346 (GRCm39)	M291K	probably benign	Het
Fcgbpl1	C	A	7: 27,853,620 (GRCm39)	T1528N	probably benign	Het
Gfod2	C	T	8: 106,443,853 (GRCm39)	G230D	probably benign	Het
Git2	A	G	5: 114,868,410 (GRCm39)	S257P	probably damaging	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Hnrnph1	T	A	11: 50,276,619 (GRCm39)	V439E	probably benign	Het
Map3k20	C	T	2: 72,202,336 (GRCm39)	T189M	probably damaging	Het
Mapk11	T	C	15: 89,029,653 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nmral1	G	A	16: 4,534,333 (GRCm39)	T36I	probably damaging	Het
Or4c1	C	T	2: 89,133,562 (GRCm39)	V125M	possibly damaging	Het
Or5b119	A	G	19: 13,456,824 (GRCm39)	V246A	probably damaging	Het
Or7e169	A	G	9: 19,757,510 (GRCm39)	I135T	possibly damaging	Het
Padi6	A	G	4: 140,462,700 (GRCm39)	L307P	probably damaging	Het
Pkd1	G	T	17: 24,798,765 (GRCm39)	R2691L	probably benign	Het
Ppp2r2a	G	A	14: 67,261,214 (GRCm39)	R169W	probably damaging	Het
Prdm1	A	T	10: 44,334,488 (GRCm39)		probably null	Het
Robo1	C	T	16: 72,767,157 (GRCm39)	P443L	possibly damaging	Het
Rtn4	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	11: 29,643,308 (GRCm39)		probably benign	Het
Shprh	A	G	10: 11,045,774 (GRCm39)	H865R	probably damaging	Het
Spats1	A	T	17: 45,775,480 (GRCm39)	S15T	probably damaging	Het
Srgap2	T	C	1: 131,220,327 (GRCm39)	T216A	probably benign	Het
Sry	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	Y: 2,662,944 (GRCm39)		probably benign	Het
Tie1	G	A	4: 118,333,022 (GRCm39)	A902V	probably damaging	Het
Usp22	T	C	11: 61,051,407 (GRCm39)	Q312R	probably damaging	Het
Vmn2r32	T	C	7: 7,475,554 (GRCm39)	Y443C	probably benign	Het
Vps13d	A	C	4: 144,813,360 (GRCm39)	D3274E	probably damaging	Het
Wdr62	A	T	7: 29,971,095 (GRCm39)	N167K	possibly damaging	Het
Xpo5	A	G	17: 46,553,173 (GRCm39)		probably null	Het
Zswim7	A	T	11: 62,164,611 (GRCm39)	I43N	possibly damaging	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	possibly 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
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
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'- TGGACTTGTAAGAGGGTCCC -3'
(R):5'- ACAGTCTTTGCCACCTCTGAG -3'

Sequencing Primer
(F):5'- ACTGCTTGCTTTAACTCCAGAC -3'
(R):5'- CCTCTGAGGGGGCAAATCTAATG -3'

Posted On

2015-03-25