Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02648:Itgad'

302013

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itgad

Ensembl Gene

ENSMUSG00000070369

Gene Name

integrin, alpha D

Synonyms

Cd11d

Accession Numbers

Essential gene?

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

Stock #

IGL02648

Quality Score

Status

Chromosome

Chromosomal Location

127773105-127822988 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 127782546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135572 (fasta)

Gene Model

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

AlphaFold

Q3V0T4

Predicted Effect

unknown
Transcript: ENSMUST00000033051
AA Change: S254P

SMART Domains

Protein: ENSMUSP00000033051
Gene: ENSMUSG00000070369
AA Change: S254P

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

SMART Domains

Protein: ENSMUSP00000101844
Gene: ENSMUSG00000070369

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

SMART Domains

Protein: ENSMUSP00000135572
Gene: ENSMUSG00000070369

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: ENSMUST00000206189

Coding Region Coverage

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	T	4: 144,344,392 (GRCm39)		probably null	Het
Acp4	A	G	7: 43,904,414 (GRCm39)		probably benign	Het
Adgrv1	A	T	13: 81,659,738 (GRCm39)	M1997K	probably benign	Het
Arhgdib	T	C	6: 136,910,647 (GRCm39)	D38G	probably damaging	Het
Bbox1	T	G	2: 110,135,871 (GRCm39)	D36A	probably damaging	Het
Cacna1c	T	C	6: 118,734,457 (GRCm39)	K104R	probably damaging	Het
Cacna1i	G	A	15: 80,182,839 (GRCm39)	C75Y	probably damaging	Het
Ccdc14	T	C	16: 34,517,528 (GRCm39)	L70S	probably damaging	Het
Ccdc88a	T	G	11: 29,451,051 (GRCm39)	V1580G	probably benign	Het
Cdadc1	C	A	14: 59,823,812 (GRCm39)	D227Y	probably damaging	Het
Chd3	T	C	11: 69,242,976 (GRCm39)	Y1415C	probably damaging	Het
Cngb3	A	G	4: 19,428,489 (GRCm39)	N493S	probably benign	Het
Dock10	T	A	1: 80,551,840 (GRCm39)	Y665F	probably damaging	Het
Gm10549	C	A	18: 33,597,303 (GRCm39)		probably benign	Het
Greb1	C	T	12: 16,758,683 (GRCm39)	V678M	probably damaging	Het
Gucy2c	G	A	6: 136,706,211 (GRCm39)	R497*	probably null	Het
Lgr4	C	A	2: 109,842,718 (GRCm39)	T877K	probably damaging	Het
Lrig3	A	G	10: 125,802,463 (GRCm39)	D40G	probably benign	Het
Myo3b	T	C	2: 69,935,716 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,161,093 (GRCm39)	Y2193H	possibly damaging	Het
Or4b1	T	A	2: 89,979,697 (GRCm39)	I218F	possibly damaging	Het
Or8b3b	T	C	9: 38,584,312 (GRCm39)	M143V	probably benign	Het
Pard6b	A	G	2: 167,940,847 (GRCm39)	Q278R	probably benign	Het
Pate10	A	T	9: 35,652,405 (GRCm39)	M21L	probably benign	Het
Pkd2l1	T	C	19: 44,143,975 (GRCm39)	Y366C	possibly damaging	Het
Prl2c1	A	G	13: 28,041,542 (GRCm39)	D188G	probably benign	Het
Prl3a1	G	T	13: 27,454,218 (GRCm39)	M65I	probably benign	Het
Psg26	T	A	7: 18,216,691 (GRCm39)	E49D	probably benign	Het
Rapgef3	G	A	15: 97,656,273 (GRCm39)	R38W	probably damaging	Het
Rrn3	T	C	16: 13,629,453 (GRCm39)	F590L	probably benign	Het
Serpina12	T	C	12: 104,004,267 (GRCm39)	K122E	probably benign	Het
Slc39a6	T	C	18: 24,715,424 (GRCm39)	I699V	probably damaging	Het
Tmem259	G	A	10: 79,813,651 (GRCm39)	P443S	probably damaging	Het
Vmn1r75	T	A	7: 11,615,091 (GRCm39)	F274L	probably benign	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
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
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

Posted On

2015-04-16