Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00777:Itgad'

11506

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: 0.061) question?

Stock #

IGL00777

Quality Score

Status

Chromosome

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

Domain	Start	End	E-Value	Type
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

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: T1061S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101844
Gene: ENSMUSG00000070369
AA Change: T1061S

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: ENSMUST00000176249

SMART Domains

Protein: ENSMUSP00000135309
Gene: ENSMUSG00000070369

Domain	Start	End	E-Value	Type
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

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

probably benign
Transcript: ENSMUST00000177383

SMART Domains

Protein: ENSMUSP00000135104
Gene: ENSMUSG00000070369

Domain	Start	End	E-Value	Type
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

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	G	5: 50,183,100 (GRCm39)	I82T	probably damaging	Het
Cd72	T	C	4: 43,448,365 (GRCm39)	Y305C	possibly damaging	Het
Cldn34c1	T	C	X: 122,052,570 (GRCm39)	L103P	probably damaging	Het
Dhtkd1	A	T	2: 5,934,468 (GRCm39)	L234H	probably damaging	Het
H1f4	T	A	13: 23,806,005 (GRCm39)		probably benign	Het
Hgd	A	G	16: 37,433,611 (GRCm39)	T77A	probably damaging	Het
Klhl20	T	C	1: 160,937,325 (GRCm39)	T17A	probably benign	Het
Lct	T	C	1: 128,215,293 (GRCm39)	D1761G	probably benign	Het
Mmp23	T	G	4: 155,735,464 (GRCm39)	Y334S	possibly damaging	Het
Ncapg	A	G	5: 45,853,107 (GRCm39)	S858G	possibly damaging	Het
Nsd1	G	A	13: 55,386,548 (GRCm39)	G101E	probably damaging	Het
Pdia3	T	A	2: 121,260,037 (GRCm39)	L192Q	probably damaging	Het
Phex	A	G	X: 155,960,528 (GRCm39)	L672P	probably damaging	Het
Reln	A	G	5: 22,223,848 (GRCm39)		probably null	Het
Rfk	T	A	19: 17,372,700 (GRCm39)	V74E	probably benign	Het
Rubcn	A	G	16: 32,656,933 (GRCm39)	C467R	probably damaging	Het
Rufy2	G	A	10: 62,826,833 (GRCm39)	C124Y	probably damaging	Het
Slc8a1	A	G	17: 81,956,009 (GRCm39)	I343T	probably damaging	Het
Smyd4	T	A	11: 75,281,634 (GRCm39)	M369K	probably benign	Het
Spata31e2	C	A	1: 26,721,173 (GRCm39)	D1336Y	probably damaging	Het
Tmem131l	G	T	3: 83,806,597 (GRCm39)	P1408T	probably damaging	Het
Tmprss11f	A	G	5: 86,671,924 (GRCm39)	Y423H	probably damaging	Het
Wdr70	A	T	15: 8,049,088 (GRCm39)	M303K	probably benign	Het

Other mutations in Itgad

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06