Mutagenetix > Incidental Mutations

Incidental Mutation 'R7565:Itgad'

585384

Institutional Source

Beutler Lab

Gene Symbol

Itgad

Ensembl Gene

ENSMUSG00000070369

Gene Name

integrin, alpha D

Synonyms

Cd11d

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7565 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128154376-128223816 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128183015 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 208 (T208S)

Ref Sequence

ENSEMBL: ENSMUSP00000033051 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000033051
AA Change: T208S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033051
Gene: ENSMUSG00000070369
AA Change: T208S

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

possibly damaging
Transcript: ENSMUST00000106237
AA Change: T210S

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101844
Gene: ENSMUSG00000070369
AA Change: T210S

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: T208S

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135572
Gene: ENSMUSG00000070369
AA Change: T208S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,270	N276K	probably benign	Het
9830107B12Rik	T	A	17: 48,145,579	Y63F	possibly damaging	Het
Abi1	A	T	2: 22,946,584	I421N	probably benign	Het
Ahnak	A	G	19: 9,016,156	I4935V	probably benign	Het
Atg12	A	C	18: 46,734,484	V131G	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,888,138		probably benign	Het
BC028528	TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	3: 95,888,144		probably benign	Het
Bcl3	C	T	7: 19,812,494	V139I	probably damaging	Het
Bloc1s4	T	A	5: 36,748,345	M101L	probably benign	Het
Bmp6	C	T	13: 38,346,257	Q109*	probably null	Het
Cabyr	C	T	18: 12,744,599	T28I	possibly damaging	Het
Catsper3	T	C	13: 55,784,725	S22P	probably benign	Het
Catsperg2	A	T	7: 29,712,981	C395S	probably null	Het
Cd101	T	C	3: 101,018,792	T208A	probably benign	Het
Chaf1a	A	G	17: 56,064,148	S678G	probably benign	Het
Chrna2	A	C	14: 66,151,035	I500L	probably benign	Het
Cln6	C	T	9: 62,850,757	T266I	possibly damaging	Het
Col17a1	T	A	19: 47,671,524	T330S	possibly damaging	Het
Cyp2d40	A	G	15: 82,760,774	V225A	unknown	Het
Dnah10	A	G	5: 124,799,031	N2645D	probably damaging	Het
Dph5	T	A	3: 115,892,797	V74D	probably benign	Het
Dthd1	A	T	5: 62,843,092	I586L	probably damaging	Het
Elane	G	A	10: 79,887,045	R95Q	probably benign	Het
Fbxw17	A	G	13: 50,433,362	T453A	probably damaging	Het
Fpr3	C	A	17: 17,970,965	T166K	probably damaging	Het
Fryl	A	G	5: 73,033,720	I2724T	probably benign	Het
Fsip2	C	T	2: 82,949,512	R201C	probably damaging	Het
Gm14496	T	A	2: 181,991,257	F11Y	possibly damaging	Het
Gm14496	A	G	2: 182,000,837	N767S	probably damaging	Het
Hyal4	T	A	6: 24,765,934	M429K	possibly damaging	Het
Itpr3	T	G	17: 27,110,888	L1552R	probably benign	Het
Kcp	C	T	6: 29,499,187	C292Y	probably damaging	Het
Kdr	T	C	5: 75,948,843	K958R	probably damaging	Het
Klhl22	T	A	16: 17,789,284	W485R	probably damaging	Het
Ldhb	T	A	6: 142,492,519	I271F	possibly damaging	Het
Lmo7	A	G	14: 101,885,301	R309G	probably damaging	Het
Marco	C	A	1: 120,474,666	C517F	probably damaging	Het
Mpdz	G	A	4: 81,303,654	T1423I	probably benign	Het
Ncoa2	T	C	1: 13,148,376	S1410G	probably benign	Het
Ncor1	T	C	11: 62,401,265	N283S	probably damaging	Het
Nlrp14	T	A	7: 107,181,887	L97*	probably null	Het
Olfm3	T	G	3: 115,122,744	S442A	probably damaging	Het
Olfr116	T	C	17: 37,624,501	I45V	probably damaging	Het
Olfr1436	T	C	19: 12,298,848	T95A	probably benign	Het
Olfr693	T	C	7: 106,678,126	Y120C	probably damaging	Het
Olfr76	T	A	19: 12,120,011	S234C	probably benign	Het
Olfr796	A	G	10: 129,608,160	V107A	possibly damaging	Het
Pank4	G	A	4: 154,980,550	V769I	probably benign	Het
Pdgfrb	G	A	18: 61,083,264	D1065N	probably damaging	Het
Ppp1r12a	G	A	10: 108,268,640	S911N	probably benign	Het
Prdx6b	A	G	2: 80,292,990	T48A	probably damaging	Het
Pttg1ip	A	G	10: 77,597,036	K166E	probably damaging	Het
Rabgap1l	T	C	1: 160,251,417	D9G		Het
Rpl13a	C	T	7: 45,127,042	G69S	probably benign	Het
Rps6ka5	T	A	12: 100,616,083	I177F	probably damaging	Het
Rttn	C	A	18: 89,060,479	A1343E	probably damaging	Het
Ryr2	C	T	13: 11,560,653	V4820I	possibly damaging	Het
Slc12a7	A	G	13: 73,790,772	I223V	possibly damaging	Het
Slc9a3	G	A	13: 74,157,694	V277M	probably damaging	Het
Spata13	A	T	14: 60,751,849	Y988F	probably damaging	Het
Spo11	A	G	2: 172,992,071	I329V	possibly damaging	Het
Tcp11l2	A	T	10: 84,587,134	D63V	probably damaging	Het
Tdrd3	G	A	14: 87,506,593	W659*	probably null	Het
Thnsl2	T	C	6: 71,141,327	D39G	probably benign	Het
Thumpd1	A	T	7: 119,716,862	L288*	probably null	Het
Tram1l1	T	C	3: 124,321,907	Y239H	probably damaging	Het
Usp38	T	A	8: 80,981,972	E992D	probably damaging	Het
Usp45	A	G	4: 21,784,790	T159A	probably benign	Het
Vmn1r218	C	T	13: 23,136,660	T59I	probably benign	Het
Vmn2r70	T	C	7: 85,565,291	I218V	probably benign	Het
Xpr1	T	C	1: 155,307,742	I461V	probably benign	Het
Ydjc	T	C	16: 17,147,005	L8P	probably damaging	Het
Yme1l1	A	T	2: 23,160,220	N21I	possibly damaging	Het
Zfhx4	T	C	3: 5,390,366	L1140P	probably benign	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
R3277: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
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
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

PCR Primer
(F):5'- TCAAGCAAGTGAGTGAGGTTTTC -3'
(R):5'- ACTCTGTTGACTCAGTACTAAGAAG -3'

Sequencing Primer
(F):5'- GAGAATCAACGCCTGAGTGTTTTTC -3'
(R):5'- AGTAATTTGGAGACCACGTCTG -3'

Posted On

2019-10-17