Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Itgad'

475851

Institutional Source

Beutler Lab

Gene Symbol

Itgad

Ensembl Gene

ENSMUSG00000070369

Gene Name

integrin, alpha D

Synonyms

Cd11d

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128154376-128223816 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 128190981 bp (GRCm38)

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: 98.5%
10x: 97.1%
20x: 94.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,752,627	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964		probably null	Het
Cyp4f18	T	C	8: 71,993,200	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211		probably null	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982	Q1318L	probably benign	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510	H46R	probably damaging	Het
Herc2	T	C	7: 56,153,428	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278		probably null	Het
Mag	C	T	7: 30,901,648		probably null	Het
Mdh1b	G	A	1: 63,711,531	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,478,788	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079	L294F	probably benign	Het
Radil	A	G	5: 142,506,856	L339P	probably damaging	Het
Raver1	G	A	9: 21,079,277	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987		probably null	Het
Rxrg	A	G	1: 167,635,700	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Wrn	A	G	8: 33,317,554	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly damaging	Het

Other mutations in Itgad

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Itgad	APN	7	128203850	missense	probably damaging	0.99
IGL02036:Itgad	APN	7	128189821	missense	possibly damaging	0.49
IGL02589:Itgad	APN	7	128181711	missense	probably damaging	1.00
IGL02648:Itgad	APN	7	128183374	intron	probably benign
IGL02735:Itgad	APN	7	128193716	missense	probably damaging	1.00
IGL03088:Itgad	APN	7	128203032	missense	probably benign	0.01
IGL03110:Itgad	APN	7	128185985	missense	probably damaging	1.00
BB007:Itgad	UTSW	7	128183108	missense	probably benign	0.01
BB017:Itgad	UTSW	7	128183108	missense	probably benign	0.01
R0060:Itgad	UTSW	7	128202986	missense	probably damaging	1.00
R0060:Itgad	UTSW	7	128202986	missense	probably damaging	1.00
R0184:Itgad	UTSW	7	128189231	missense	probably benign	0.02
R0211:Itgad	UTSW	7	128204641	missense	probably damaging	1.00
R0211:Itgad	UTSW	7	128204641	missense	probably damaging	1.00
R0282:Itgad	UTSW	7	128189978	splice site	probably benign
R0326:Itgad	UTSW	7	128198378	missense	probably benign	0.00
R0646:Itgad	UTSW	7	128174004	missense	possibly damaging	0.89
R0947:Itgad	UTSW	7	128175693	missense	probably benign	0.08
R1439:Itgad	UTSW	7	128183006	missense	probably benign	0.44
R1454:Itgad	UTSW	7	128192137	missense	probably benign	0.02
R1503:Itgad	UTSW	7	128198121	missense	probably benign	0.00
R1531:Itgad	UTSW	7	128178370	missense	probably benign	0.00
R1572:Itgad	UTSW	7	128203234	missense	probably damaging	1.00
R1602:Itgad	UTSW	7	128190939	missense	probably damaging	1.00
R1732:Itgad	UTSW	7	128205107	missense	probably benign
R2278:Itgad	UTSW	7	128205170	missense	possibly damaging	0.93
R2851:Itgad	UTSW	7	128204560	missense	probably benign	0.01
R3029:Itgad	UTSW	7	128178371	missense	possibly damaging	0.85
R3080:Itgad	UTSW	7	128185787	missense	possibly damaging	0.48
R3150:Itgad	UTSW	7	128190981	missense	possibly damaging	0.64
R3176:Itgad	UTSW	7	128190981	missense	possibly damaging	0.64
R3177:Itgad	UTSW	7	128190981	missense	possibly damaging	0.64
R3276:Itgad	UTSW	7	128190981	missense	possibly damaging	0.64
R3833:Itgad	UTSW	7	128186233	missense	probably damaging	1.00
R4541:Itgad	UTSW	7	128198115	missense	probably benign	0.13
R4649:Itgad	UTSW	7	128189531	missense	probably benign	0.01
R4753:Itgad	UTSW	7	128223703	makesense	probably null
R4852:Itgad	UTSW	7	128198530	missense	probably damaging	1.00
R4931:Itgad	UTSW	7	128204625	missense	probably damaging	1.00
R4970:Itgad	UTSW	7	128189843	missense	possibly damaging	0.70
R5116:Itgad	UTSW	7	128203893	missense	probably damaging	1.00
R5183:Itgad	UTSW	7	128198223	critical splice donor site	probably null
R5233:Itgad	UTSW	7	128193428	splice site	probably null
R5334:Itgad	UTSW	7	128189286	missense	probably damaging	0.99
R5731:Itgad	UTSW	7	128198554	missense	probably benign	0.19
R5760:Itgad	UTSW	7	128203365	missense	probably benign	0.02
R5896:Itgad	UTSW	7	128174016	missense	probably benign	0.34
R5955:Itgad	UTSW	7	128189481	missense	probably benign	0.00
R6247:Itgad	UTSW	7	128185787	missense	possibly damaging	0.48
R6659:Itgad	UTSW	7	128185948	missense	probably damaging	1.00
R7027:Itgad	UTSW	7	128182989	missense	probably damaging	1.00
R7104:Itgad	UTSW	7	128198378	missense	probably benign	0.00
R7120:Itgad	UTSW	7	128173974	start codon destroyed	probably null	0.02
R7272:Itgad	UTSW	7	128205073	missense	probably damaging	1.00
R7303:Itgad	UTSW	7	128190179	missense	probably benign
R7324:Itgad	UTSW	7	128189807	missense	probably damaging	1.00
R7565:Itgad	UTSW	7	128183015	missense	probably damaging	0.98
R7566:Itgad	UTSW	7	128192107	missense	probably benign	0.40
R7930:Itgad	UTSW	7	128183108	missense	probably benign	0.01
R8550:Itgad	UTSW	7	128203892	missense	probably damaging	0.98
R8816:Itgad	UTSW	7	128198370	nonsense	probably null
R8849:Itgad	UTSW	7	128189985	splice site	probably benign
R8952:Itgad	UTSW	7	128190152	missense	probably damaging	1.00
R9345:Itgad	UTSW	7	128189307	missense	probably benign	0.02
R9354:Itgad	UTSW	7	128185974	missense	probably damaging	1.00
R9526:Itgad	UTSW	7	128178380	missense	probably benign	0.09
R9614:Itgad	UTSW	7	128203850	missense	probably damaging	0.99
R9623:Itgad	UTSW	7	128204551	missense	probably damaging	1.00
R9773:Itgad	UTSW	7	128190050	missense	probably damaging	0.97
RF019:Itgad	UTSW	7	128192208	missense	probably benign	0.08
Z1176:Itgad	UTSW	7	128190087	missense	probably damaging	1.00
Z1177:Itgad	UTSW	7	128189501	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-11