Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02589:Itgad'

299670

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 #

IGL02589

Quality Score

Status

Chromosome

Chromosomal Location

127773105-127822988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127780883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 157 (D157V)

Ref Sequence

ENSEMBL: ENSMUSP00000135572 (fasta)

Gene Model

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

AlphaFold

Q3V0T4

Predicted Effect

probably damaging
Transcript: ENSMUST00000033051
AA Change: D157V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033051
Gene: ENSMUSG00000070369
AA Change: D157V

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 damaging
Transcript: ENSMUST00000106237
AA Change: D159V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101844
Gene: ENSMUSG00000070369
AA Change: D159V

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 damaging
Transcript: ENSMUST00000177111
AA Change: D157V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135572
Gene: ENSMUSG00000070369
AA Change: D157V

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	G	6: 128,558,463 (GRCm39)	I5L	probably benign	Het
Ang6	A	G	14: 44,239,419 (GRCm39)	I103T	possibly damaging	Het
Arhgdib	A	G	6: 136,910,576 (GRCm39)		probably benign	Het
Atp13a2	C	T	4: 140,733,722 (GRCm39)	T1037M	probably damaging	Het
Bptf	T	C	11: 107,002,357 (GRCm39)	N252D	possibly damaging	Het
Capn2	T	C	1: 182,311,913 (GRCm39)	Y387C	probably damaging	Het
Cdc27	T	G	11: 104,396,470 (GRCm39)	D817A	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cntnap3	T	G	13: 64,940,244 (GRCm39)	I318L	probably benign	Het
Cog6	A	T	3: 52,914,691 (GRCm39)	L255Q	probably damaging	Het
Ect2l	T	A	10: 18,016,342 (GRCm39)		probably benign	Het
Ercc5	T	C	1: 44,203,209 (GRCm39)	V282A	probably damaging	Het
Fras1	A	G	5: 96,917,372 (GRCm39)	D3464G	probably damaging	Het
Gabrg1	A	T	5: 70,999,495 (GRCm39)	L18*	probably null	Het
Ggcx	T	C	6: 72,406,131 (GRCm39)	Y586H	probably damaging	Het
Gm5796	A	T	14: 15,379,030 (GRCm39)	K24*	probably null	Het
Gnb4	C	T	3: 32,643,998 (GRCm39)	V187M	probably damaging	Het
Gpt2	C	T	8: 86,242,795 (GRCm39)	Q276*	probably null	Het
Idnk	G	T	13: 58,311,239 (GRCm39)		probably benign	Het
Igkv3-9	A	G	6: 70,565,683 (GRCm39)	D94G	possibly damaging	Het
Ipo8	C	A	6: 148,711,405 (GRCm39)	L294F	probably damaging	Het
Kcnab3	A	T	11: 69,222,928 (GRCm39)	I392L	probably benign	Het
Kdm3b	A	G	18: 34,945,471 (GRCm39)	S761G	possibly damaging	Het
Kif21a	G	A	15: 90,869,489 (GRCm39)	T454M	probably damaging	Het
Lta4h	A	G	10: 93,310,793 (GRCm39)	N441S	probably benign	Het
Man2a1	A	G	17: 64,986,773 (GRCm39)	E595G	probably benign	Het
Micos13	T	C	17: 56,915,856 (GRCm39)	E66G	probably benign	Het
Mvd	T	C	8: 123,164,773 (GRCm39)		probably benign	Het
Notch2	A	G	3: 98,011,663 (GRCm39)		probably null	Het
Phf20l1	G	T	15: 66,487,481 (GRCm39)		probably benign	Het
Rdm1	A	G	11: 101,518,831 (GRCm39)	S13G	possibly damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Scn4a	G	T	11: 106,218,958 (GRCm39)	D953E	probably benign	Het
Sh2b1	A	G	7: 126,068,440 (GRCm39)	I457T	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tagap	C	A	17: 8,152,504 (GRCm39)	T563K	possibly damaging	Het
Ugt1a7c	T	C	1: 88,023,360 (GRCm39)	I173T	probably benign	Het
Unc79	C	T	12: 103,139,755 (GRCm39)	A2370V	probably damaging	Het
Vmn2r102	T	A	17: 19,901,480 (GRCm39)	C536S	probably damaging	Het
Vmn2r53	G	A	7: 12,315,872 (GRCm39)	T649I	possibly damaging	Het
Whrn	G	A	4: 63,336,334 (GRCm39)	Q301*	probably null	Het
Zfp1007	T	A	5: 109,826,386 (GRCm39)	H62L	possibly damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	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
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
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