Mutagenetix > Incidental Mutation

Incidental Mutation 'R5885:Itga11'

456045

Institutional Source

Beutler Lab

Gene Symbol

Itga11

Ensembl Gene

ENSMUSG00000032243

Gene Name

integrin alpha 11

Synonyms

4732459H24Rik

MMRRC Submission

043237-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R5885 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62585108-62691264 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62670132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 752 (Y752C)

Ref Sequence

ENSEMBL: ENSMUSP00000034774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034774]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034774
AA Change: Y752C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034774
Gene: ENSMUSG00000032243
AA Change: Y752C

Domain	Start	End	E-Value	Type
Int_alpha	37	90	3.9e-7	SMART
VWA	162	350	2.74e-38	SMART
Int_alpha	421	472	2.19e-1	SMART
Int_alpha	476	532	3.75e-9	SMART
Int_alpha	538	593	1.39e-12	SMART
Int_alpha	600	654	1.08e0	SMART
transmembrane domain	1142	1164	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159012

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 91.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption of this gene display dwarfism, increased mortality with age, and defective incisors. [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
Acot10	T	A	15: 20,666,190 (GRCm39)	M184L	probably benign	Het
Adgrv1	A	T	13: 81,572,390 (GRCm39)	S4924T	probably benign	Het
Atp10a	T	A	7: 58,463,548 (GRCm39)	M1027K	possibly damaging	Het
Axl	T	A	7: 25,466,277 (GRCm39)	K510I	probably damaging	Het
Azi2	T	A	9: 117,876,628 (GRCm39)	I48N	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Dnah3	T	C	7: 119,668,927 (GRCm39)	I720V	probably benign	Het
Dnah8	C	T	17: 31,013,691 (GRCm39)	P3811S	probably damaging	Het
Epas1	A	G	17: 87,134,972 (GRCm39)	D535G	probably damaging	Het
Fam47e	A	G	5: 92,713,827 (GRCm39)	K152R	probably damaging	Het
Fbxl3	A	T	14: 103,320,667 (GRCm39)	I260K	probably benign	Het
Fcgr3	A	G	1: 170,885,280 (GRCm39)	V115A	probably damaging	Het
Fgf12	G	T	16: 28,217,046 (GRCm39)	D98E	possibly damaging	Het
Flt3	T	C	5: 147,286,439 (GRCm39)	T716A	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gpr141b	A	T	13: 19,913,519 (GRCm39)		noncoding transcript	Het
Grin2a	A	G	16: 9,579,769 (GRCm39)	Y165H	possibly damaging	Het
Ifna4	T	A	4: 88,760,599 (GRCm39)	W168R	probably damaging	Het
Khdrbs3	A	G	15: 68,896,547 (GRCm39)		probably null	Het
Kif24	A	T	4: 41,423,463 (GRCm39)	Y263N	probably damaging	Het
Lama5	G	T	2: 179,843,624 (GRCm39)	T441K	probably damaging	Het
Lrrc47	T	A	4: 154,100,429 (GRCm39)	V335D	possibly damaging	Het
Map1b	A	T	13: 99,566,589 (GRCm39)	I2044N	unknown	Het
Mast2	C	T	4: 116,172,035 (GRCm39)	G638S	probably damaging	Het
Myo9a	T	C	9: 59,778,503 (GRCm39)	S1420P	probably benign	Het
Neurl2	T	C	2: 164,674,811 (GRCm39)	T184A	probably damaging	Het
Nfatc3	A	G	8: 106,822,944 (GRCm39)	I577V	probably benign	Het
Nipal3	A	T	4: 135,199,288 (GRCm39)	V186E	probably damaging	Het
Pgbd5	G	A	8: 125,111,205 (GRCm39)	T162M	probably damaging	Het
Plod2	T	A	9: 92,488,709 (GRCm39)		probably null	Het
Psg22	T	A	7: 18,452,257 (GRCm39)	L19Q	probably damaging	Het
Psg27	T	A	7: 18,295,711 (GRCm39)	N245Y	probably damaging	Het
Ptprc	T	A	1: 138,016,246 (GRCm39)	I539F	probably damaging	Het
Rad1	T	C	15: 10,488,143 (GRCm39)	L59P	probably damaging	Het
Slc2a9	G	A	5: 38,598,017 (GRCm39)	R137W	probably damaging	Het
Spats2l	C	T	1: 57,985,321 (GRCm39)	A458V	probably damaging	Het
Sptbn5	A	G	2: 119,907,144 (GRCm39)		probably benign	Het
Stox1	C	A	10: 62,500,627 (GRCm39)	L644F	probably damaging	Het
Sv2b	C	T	7: 74,806,501 (GRCm39)	G213E	probably damaging	Het
Tas2r121	T	G	6: 132,677,254 (GRCm39)	L239F	probably damaging	Het
Trrap	T	A	5: 144,731,603 (GRCm39)	V854E	probably damaging	Het
Vmn2r97	A	G	17: 19,168,035 (GRCm39)	Y763C	possibly damaging	Het
Xkr6	T	A	14: 63,844,360 (GRCm39)	W128R	probably damaging	Het

Other mutations in Itga11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Itga11	APN	9	62,676,587 (GRCm39)	missense	possibly damaging	0.58
IGL01108:Itga11	APN	9	62,664,903 (GRCm39)	missense	probably benign
IGL01348:Itga11	APN	9	62,651,861 (GRCm39)	missense	possibly damaging	0.83
IGL01739:Itga11	APN	9	62,681,399 (GRCm39)	missense	probably benign	0.03
IGL01918:Itga11	APN	9	62,680,278 (GRCm39)	missense	probably benign	0.05
IGL02237:Itga11	APN	9	62,663,057 (GRCm39)	critical splice donor site	probably null
IGL02418:Itga11	APN	9	62,651,914 (GRCm39)	missense	probably benign	0.30
IGL02451:Itga11	APN	9	62,642,635 (GRCm39)	missense	probably damaging	1.00
sneezy	UTSW	9	62,639,391 (GRCm39)	missense	probably damaging	1.00
PIT4812001:Itga11	UTSW	9	62,639,475 (GRCm39)	missense	probably damaging	1.00
R0013:Itga11	UTSW	9	62,683,895 (GRCm39)	missense	possibly damaging	0.89
R0013:Itga11	UTSW	9	62,683,895 (GRCm39)	missense	possibly damaging	0.89
R0032:Itga11	UTSW	9	62,681,377 (GRCm39)	missense	probably benign	0.05
R0032:Itga11	UTSW	9	62,681,377 (GRCm39)	missense	probably benign	0.05
R0101:Itga11	UTSW	9	62,651,768 (GRCm39)	missense	probably damaging	1.00
R0114:Itga11	UTSW	9	62,667,584 (GRCm39)	missense	possibly damaging	0.85
R0114:Itga11	UTSW	9	62,642,575 (GRCm39)	missense	probably damaging	1.00
R0212:Itga11	UTSW	9	62,653,251 (GRCm39)	missense	probably benign	0.22
R0310:Itga11	UTSW	9	62,667,628 (GRCm39)	missense	probably damaging	1.00
R0455:Itga11	UTSW	9	62,604,243 (GRCm39)	missense	probably damaging	1.00
R0558:Itga11	UTSW	9	62,659,570 (GRCm39)	missense	probably benign	0.01
R0607:Itga11	UTSW	9	62,681,653 (GRCm39)	missense	probably benign	0.00
R0924:Itga11	UTSW	9	62,683,956 (GRCm39)	missense	probably benign	0.14
R1085:Itga11	UTSW	9	62,585,252 (GRCm39)	missense	probably benign	0.03
R1477:Itga11	UTSW	9	62,662,493 (GRCm39)	missense	probably benign
R1647:Itga11	UTSW	9	62,667,652 (GRCm39)	missense	probably benign	0.01
R1831:Itga11	UTSW	9	62,689,300 (GRCm39)	missense	probably damaging	1.00
R1880:Itga11	UTSW	9	62,585,231 (GRCm39)	missense	probably benign	0.06
R1934:Itga11	UTSW	9	62,651,796 (GRCm39)	missense	probably damaging	1.00
R2025:Itga11	UTSW	9	62,670,093 (GRCm39)	missense	probably damaging	1.00
R2046:Itga11	UTSW	9	62,634,979 (GRCm39)	missense	probably damaging	1.00
R2145:Itga11	UTSW	9	62,639,486 (GRCm39)	splice site	probably benign
R2922:Itga11	UTSW	9	62,675,912 (GRCm39)	splice site	probably benign
R3011:Itga11	UTSW	9	62,604,262 (GRCm39)	missense	probably damaging	0.99
R3158:Itga11	UTSW	9	62,676,560 (GRCm39)	missense	probably benign	0.02
R3809:Itga11	UTSW	9	62,678,664 (GRCm39)	missense	probably benign
R3836:Itga11	UTSW	9	62,676,565 (GRCm39)	missense	probably benign	0.00
R4051:Itga11	UTSW	9	62,662,933 (GRCm39)	nonsense	probably null
R4190:Itga11	UTSW	9	62,639,391 (GRCm39)	missense	probably damaging	1.00
R4510:Itga11	UTSW	9	62,668,870 (GRCm39)	missense	probably damaging	0.96
R4511:Itga11	UTSW	9	62,668,870 (GRCm39)	missense	probably damaging	0.96
R4678:Itga11	UTSW	9	62,642,639 (GRCm39)	missense	probably damaging	0.98
R4706:Itga11	UTSW	9	62,662,578 (GRCm39)	missense	possibly damaging	0.64
R4713:Itga11	UTSW	9	62,673,070 (GRCm39)	missense	probably damaging	1.00
R4798:Itga11	UTSW	9	62,684,009 (GRCm39)	splice site	probably null
R4909:Itga11	UTSW	9	62,662,581 (GRCm39)	missense	probably damaging	1.00
R4915:Itga11	UTSW	9	62,659,530 (GRCm39)	nonsense	probably null
R4957:Itga11	UTSW	9	62,674,930 (GRCm39)	missense	probably benign	0.00
R4962:Itga11	UTSW	9	62,668,850 (GRCm39)	nonsense	probably null
R5081:Itga11	UTSW	9	62,662,478 (GRCm39)	missense	probably benign	0.13
R5265:Itga11	UTSW	9	62,644,694 (GRCm39)	missense	probably benign	0.05
R5308:Itga11	UTSW	9	62,663,051 (GRCm39)	missense	probably benign
R5398:Itga11	UTSW	9	62,653,205 (GRCm39)	missense	probably benign	0.21
R5717:Itga11	UTSW	9	62,659,531 (GRCm39)	missense	probably benign	0.26
R5996:Itga11	UTSW	9	62,662,955 (GRCm39)	missense	probably benign	0.01
R6394:Itga11	UTSW	9	62,642,548 (GRCm39)	splice site	probably null
R6751:Itga11	UTSW	9	62,675,866 (GRCm39)	missense	probably benign	0.02
R7041:Itga11	UTSW	9	62,659,538 (GRCm39)	missense	probably damaging	1.00
R7264:Itga11	UTSW	9	62,653,190 (GRCm39)	missense	probably benign	0.02
R7509:Itga11	UTSW	9	62,689,222 (GRCm39)	missense	probably benign
R7601:Itga11	UTSW	9	62,604,208 (GRCm39)	missense	probably benign	0.18
R7615:Itga11	UTSW	9	62,651,300 (GRCm39)	missense	probably benign	0.00
R8263:Itga11	UTSW	9	62,604,262 (GRCm39)	missense	possibly damaging	0.86
R8285:Itga11	UTSW	9	62,659,540 (GRCm39)	missense	probably damaging	1.00
R8419:Itga11	UTSW	9	62,662,460 (GRCm39)	missense	possibly damaging	0.59
R8422:Itga11	UTSW	9	62,674,960 (GRCm39)	missense	probably benign	0.00
R8469:Itga11	UTSW	9	62,678,680 (GRCm39)	missense	probably benign	0.00
R8475:Itga11	UTSW	9	62,651,327 (GRCm39)	missense	probably damaging	1.00
R8871:Itga11	UTSW	9	62,668,823 (GRCm39)	nonsense	probably null
R8904:Itga11	UTSW	9	62,664,893 (GRCm39)	missense	probably benign
R8954:Itga11	UTSW	9	62,676,545 (GRCm39)	missense	possibly damaging	0.58
R8977:Itga11	UTSW	9	62,662,922 (GRCm39)	missense	probably damaging	0.98
R9011:Itga11	UTSW	9	62,662,909 (GRCm39)	missense	probably benign	0.43
R9038:Itga11	UTSW	9	62,675,039 (GRCm39)	missense	possibly damaging	0.90
R9089:Itga11	UTSW	9	62,678,662 (GRCm39)	missense	probably damaging	1.00
R9262:Itga11	UTSW	9	62,659,678 (GRCm39)	splice site	probably benign
R9327:Itga11	UTSW	9	62,638,034 (GRCm39)	missense	probably damaging	1.00
R9487:Itga11	UTSW	9	62,670,171 (GRCm39)	missense	probably benign	0.35
R9794:Itga11	UTSW	9	62,662,868 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCACATATTTCTCACCTGCAG -3'
(R):5'- CCTGCTGTTACTAGCTGTGG -3'

Sequencing Primer
(F):5'- ATTATCCACATGGGGACTTACC -3'
(R):5'- CTGTTACTAGCTGTGGGTCTC -3'

Posted On

2017-02-15