Mutagenetix > Incidental Mutation

Incidental Mutation 'R4649:Itgad'

350593

Institutional Source

Beutler Lab

Gene Symbol

Itgad

Ensembl Gene

ENSMUSG00000070369

Gene Name

integrin, alpha D

Synonyms

Cd11d

MMRRC Submission

041910-MU

Accession Numbers

Essential gene?

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

Stock #

R4649 (G1)

Quality Score

171

Status

Not validated

Chromosome

Chromosomal Location

127773105-127822988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127788703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 443 (I443V)

Ref Sequence

ENSEMBL: ENSMUSP00000101844 (fasta)

Gene Model

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

AlphaFold

Q3V0T4

Predicted Effect

probably benign
Transcript: ENSMUST00000033051
AA Change: I477V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000033051
Gene: ENSMUSG00000070369
AA Change: I477V

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: I443V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000101844
Gene: ENSMUSG00000070369
AA Change: I443V

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: I441V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000135572
Gene: ENSMUSG00000070369
AA Change: I441V

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Abca4	G	T	3: 121,963,542 (GRCm39)	V841F	probably damaging	Het
Adcy10	G	A	1: 165,331,618 (GRCm39)	E84K	probably damaging	Het
Adgrg6	C	A	10: 14,344,571 (GRCm39)	M127I	probably damaging	Het
Agpat5	A	G	8: 18,929,668 (GRCm39)	I266V	possibly damaging	Het
Agtpbp1	A	T	13: 59,676,213 (GRCm39)	Y186N	possibly damaging	Het
Alx1	A	T	10: 102,845,193 (GRCm39)	N279K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Arsi	A	G	18: 61,050,170 (GRCm39)	Y351C	probably damaging	Het
B4galnt3	T	A	6: 120,201,581 (GRCm39)	R155W	probably damaging	Het
BC028528	T	C	3: 95,795,577 (GRCm39)	E75G	probably damaging	Het
Bmp2k	C	T	5: 97,200,970 (GRCm39)	P297S	possibly damaging	Het
Btnl4	A	G	17: 34,691,602 (GRCm39)	S296P	probably benign	Het
Bzw2	A	T	12: 36,173,980 (GRCm39)	V98E	probably null	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Catsperb	G	A	12: 101,507,771 (GRCm39)	A513T	probably benign	Het
Cd19	A	G	7: 126,013,664 (GRCm39)	S42P	probably benign	Het
Chml	A	G	1: 175,514,962 (GRCm39)	S138P	probably benign	Het
Clic6	T	G	16: 92,327,827 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,547,076 (GRCm39)	V2252E	probably damaging	Het
Cplx2	G	A	13: 54,527,361 (GRCm39)	E82K	probably benign	Het
Csmd2	G	A	4: 128,439,866 (GRCm39)	V3107M	probably benign	Het
Cspg4	T	A	9: 56,794,149 (GRCm39)	V628D	possibly damaging	Het
Dcaf13	G	A	15: 39,001,637 (GRCm39)	R315Q	possibly damaging	Het
Deaf1	A	G	7: 140,877,486 (GRCm39)	V547A	possibly damaging	Het
Dmxl1	C	T	18: 50,011,698 (GRCm39)	T1285I	probably damaging	Het
Dnah3	C	A	7: 119,646,921 (GRCm39)	W1036L	probably damaging	Het
Dnai3	A	G	3: 145,753,922 (GRCm39)	S713P	probably damaging	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dsg2	T	A	18: 20,735,302 (GRCm39)	D1093E	possibly damaging	Het
Edaradd	T	A	13: 12,523,304 (GRCm39)	H12L	probably damaging	Het
Enam	T	C	5: 88,640,827 (GRCm39)	M163T	probably benign	Het
Fbxo22	T	A	9: 55,128,333 (GRCm39)	V218E	probably damaging	Het
Fbxo34	A	T	14: 47,767,085 (GRCm39)	K148N	probably damaging	Het
Foxi3	A	G	6: 70,933,960 (GRCm39)	D149G	probably damaging	Het
Gbp8	C	T	5: 105,189,807 (GRCm39)	G75D	probably damaging	Het
Gm10784	C	T	13: 50,099,251 (GRCm39)		noncoding transcript	Het
Gm7247	G	A	14: 51,807,051 (GRCm39)		probably null	Het
Grik3	T	A	4: 125,544,278 (GRCm39)	V333E	probably damaging	Het
Gsap	A	T	5: 21,431,309 (GRCm39)	D211V	probably damaging	Het
H2-T15	T	C	17: 36,368,768 (GRCm39)	Y104C	possibly damaging	Het
Ino80	T	C	2: 119,261,489 (GRCm39)	N725S	probably damaging	Het
Itsn1	T	A	16: 91,638,476 (GRCm39)	I52N	probably damaging	Het
Kmt2b	TCTCCTCCTCCTCCTCCTCCTCCTCC	TCTCCTCCTCCTCCTCCTCCTCC	7: 30,285,783 (GRCm39)		probably benign	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lrrk1	T	C	7: 65,922,801 (GRCm39)	I1366V	probably benign	Het
Lyn	C	A	4: 3,738,850 (GRCm39)	Q41K	probably benign	Het
Mapk13	C	T	17: 28,997,461 (GRCm39)	R360*	probably null	Het
Mapk8ip3	T	A	17: 25,123,726 (GRCm39)	I599F	probably damaging	Het
Me1	T	C	9: 86,561,905 (GRCm39)	K60R	probably benign	Het
Mga	T	A	2: 119,771,974 (GRCm39)	D1532E	possibly damaging	Het
Miga1	G	A	3: 151,984,642 (GRCm39)	S427L	probably benign	Het
Mknk2	A	T	10: 80,505,173 (GRCm39)	V186E	probably damaging	Het
Myo1a	C	A	10: 127,546,086 (GRCm39)	N236K	probably benign	Het
Myt1	A	G	2: 181,439,207 (GRCm39)	D243G	probably benign	Het
Ncf4	T	C	15: 78,140,189 (GRCm39)	V196A	possibly damaging	Het
Nlrp5	G	T	7: 23,117,603 (GRCm39)	L442F	probably damaging	Het
Olfm4	G	A	14: 80,258,747 (GRCm39)	D332N	probably benign	Het
Or4a81	C	A	2: 89,619,637 (GRCm39)	V20F	probably benign	Het
Or4b1d	T	A	2: 89,969,432 (GRCm39)	D17V	probably damaging	Het
Osbpl11	T	A	16: 33,016,452 (GRCm39)	M69K	probably benign	Het
Oxnad1	T	A	14: 31,824,366 (GRCm39)	*312K	probably null	Het
Plekhg1	A	G	10: 3,906,985 (GRCm39)	Q634R	probably benign	Het
Plekhh2	T	C	17: 84,882,691 (GRCm39)	Y733H	probably damaging	Het
Ppp1r21	A	G	17: 88,856,941 (GRCm39)	H132R	probably benign	Het
Prkcq	T	C	2: 11,284,333 (GRCm39)	V501A	possibly damaging	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Pudp	T	C	18: 50,701,259 (GRCm39)	D158G	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Ranbp3	T	A	17: 57,003,640 (GRCm39)		probably null	Het
Ranbp6	A	G	19: 29,787,721 (GRCm39)	V877A	probably benign	Het
Rgsl1	A	T	1: 153,693,328 (GRCm39)	S618T	probably benign	Het
Rhox2a	A	T	X: 36,509,015 (GRCm39)	I61L	probably benign	Het
Rhox2a	G	C	X: 36,508,962 (GRCm39)	R43P	probably benign	Het
Rnf207	A	C	4: 152,396,612 (GRCm39)	D466E	probably benign	Het
Rnf7	A	G	9: 96,353,883 (GRCm39)	I80T	probably benign	Het
Ros1	T	A	10: 52,005,764 (GRCm39)	I878F	possibly damaging	Het
Rsbn1	T	A	3: 103,861,096 (GRCm39)		probably null	Het
Sbk1	T	C	7: 125,890,301 (GRCm39)	S105P	probably damaging	Het
Sdk1	T	C	5: 141,992,380 (GRCm39)	Y790H	probably damaging	Het
Sec62	T	A	3: 30,864,683 (GRCm39)	N182K	unknown	Het
Slc15a1	T	C	14: 121,715,504 (GRCm39)	Y345C	probably damaging	Het
Slc27a1	G	A	8: 72,023,408 (GRCm39)	A15T	probably benign	Het
Slc35d1	A	G	4: 103,070,426 (GRCm39)	F110L	probably damaging	Het
Slc39a5	T	A	10: 128,233,136 (GRCm39)	S333C	probably benign	Het
Tarbp1	A	G	8: 127,173,934 (GRCm39)	S927P	probably damaging	Het
Tns1	A	G	1: 73,992,930 (GRCm39)	S583P	probably damaging	Het
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Trim40	T	C	17: 37,193,531 (GRCm39)		probably null	Het
Trim42	C	A	9: 97,244,998 (GRCm39)	V601L	probably benign	Het
Trpc7	G	A	13: 57,035,367 (GRCm39)	R189C	probably damaging	Het
Ttc29	A	T	8: 79,060,208 (GRCm39)	Y376F	probably benign	Het
Vmn2r63	A	G	7: 42,553,114 (GRCm39)	I714T	possibly damaging	Het
Vmn2r68	C	A	7: 84,870,743 (GRCm39)	A847S	probably benign	Het
Zbp1	G	A	2: 173,049,608 (GRCm39)	P385S	possibly damaging	Het
Zfat	A	G	15: 68,056,325 (GRCm39)	Y237H	probably damaging	Het
Zfp236	A	T	18: 82,615,784 (GRCm39)	W1840R	probably damaging	Het
Zfp426	G	T	9: 20,381,923 (GRCm39)	Q341K	possibly damaging	Het
Zfp462	T	A	4: 55,009,349 (GRCm39)	N438K	probably benign	Het
Zfp952	T	A	17: 33,221,899 (GRCm39)	V88E	probably damaging	Het
Znfx1	G	T	2: 166,898,276 (GRCm39)	A216D	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
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
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

Predicted Primers

PCR Primer
(F):5'- TATGAGGGACGCTTACCTGG -3'
(R):5'- GGCACAAGTCTGAAGTCATCTAAAG -3'

Sequencing Primer
(F):5'- TTACCTGGGTAAGAGGCGGC -3'
(R):5'- CATCTAAAGATGCCCCCTCTGGG -3'

Posted On

2015-10-08