Mutagenetix > Incidental Mutation

Incidental Mutation 'R4190:Itga11'

319919

Institutional Source

Beutler Lab

Gene Symbol

Itga11

Ensembl Gene

ENSMUSG00000032243

Gene Name

integrin alpha 11

Synonyms

4732459H24Rik

MMRRC Submission

041021-MU

Accession Numbers

Essential gene?

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

Stock #

R4190 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

62585108-62691264 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62639391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 129 (C129S)

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: C129S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034774
Gene: ENSMUSG00000032243
AA Change: C129S

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

Meta Mutation Damage Score

0.9014

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (50/52)

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
Acot4	T	C	12: 84,089,948 (GRCm39)		probably benign	Het
Adgre1	A	G	17: 57,709,811 (GRCm39)	Y156C	unknown	Het
Ankrd13b	G	A	11: 77,367,201 (GRCm39)	A21V	probably damaging	Het
Atf7ip	T	C	6: 136,564,499 (GRCm39)	V914A	probably damaging	Het
C230029F24Rik	AGAAAG	A	1: 49,350,088 (GRCm39)		noncoding transcript	Het
Calcr	T	A	6: 3,717,106 (GRCm39)	D118V	possibly damaging	Het
Cdc42bpg	T	C	19: 6,371,711 (GRCm39)	V1330A	probably damaging	Het
Cfap54	T	C	10: 92,720,885 (GRCm39)	E2567G	unknown	Het
Ctse	T	A	1: 131,590,479 (GRCm39)	V67D	probably benign	Het
Ddx19b	A	T	8: 111,737,980 (GRCm39)	L256Q	probably damaging	Het
Dipk1b	T	C	2: 26,526,193 (GRCm39)	Y376H	probably damaging	Het
Fahd2a	C	T	2: 127,280,486 (GRCm39)	V156I	probably benign	Het
Fam185a	T	A	5: 21,630,122 (GRCm39)		probably benign	Het
Fam234a	A	T	17: 26,432,834 (GRCm39)	L467Q	probably damaging	Het
Gabra2	G	A	5: 71,165,341 (GRCm39)	P210S	probably benign	Het
Heatr3	T	C	8: 88,864,888 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,772,196 (GRCm39)	V1125A	probably benign	Het
Lama2	A	G	10: 27,142,660 (GRCm39)	L606P	probably damaging	Het
Macf1	A	G	4: 123,366,835 (GRCm39)	F1077S	possibly damaging	Het
Mtmr10	G	T	7: 63,963,934 (GRCm39)	W223L	probably benign	Het
Nlgn1	T	A	3: 25,488,062 (GRCm39)	T758S	probably benign	Het
Nr4a1	T	C	15: 101,171,993 (GRCm39)	S556P	probably damaging	Het
Or4c126	C	A	2: 89,823,918 (GRCm39)	Y60*	probably null	Het
Or5p64	T	C	7: 107,855,330 (GRCm39)	D5G	probably benign	Het
Or6c201	T	C	10: 128,968,836 (GRCm39)	N267S	possibly damaging	Het
Or6c33	A	T	10: 129,853,847 (GRCm39)	I206F	probably damaging	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Plscr5	T	C	9: 92,080,651 (GRCm39)	S46P	probably benign	Het
Ppp2r3d	T	C	9: 124,424,123 (GRCm38)		probably benign	Het
Prodh	C	T	16: 17,891,504 (GRCm39)	V480I	probably benign	Het
Senp2	G	T	16: 21,865,417 (GRCm39)	W580L	probably damaging	Het
Sorcs3	T	C	19: 48,737,812 (GRCm39)	V743A	possibly damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Stab2	G	T	10: 86,714,808 (GRCm39)	N119K	probably damaging	Het
Telo2	T	C	17: 25,320,987 (GRCm39)	T743A	probably benign	Het
Trav6-1	A	G	14: 52,875,976 (GRCm39)	N2S	probably benign	Het
Trmt44	C	A	5: 35,732,314 (GRCm39)	V26L	possibly damaging	Het
Ttbk1	A	T	17: 46,790,173 (GRCm39)	C91S	probably damaging	Het
Vit	A	G	17: 78,894,255 (GRCm39)	H219R	probably benign	Het
Vmn2r84	A	T	10: 130,227,163 (GRCm39)	L225*	probably null	Het
Vmn2r87	A	G	10: 130,308,556 (GRCm39)	Y561H	probably damaging	Het
Yars1	T	A	4: 129,093,820 (GRCm39)	C60*	probably null	Het
Zfp202	T	C	9: 40,122,633 (GRCm39)	V465A	probably benign	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
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
R5885:Itga11	UTSW	9	62,670,132 (GRCm39)	missense	probably damaging	0.99
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'- AATCCAGGCTCCACTGTTCC -3'
(R):5'- ATGCTGCTCTGTAGGTACATGATAG -3'

Sequencing Primer
(F):5'- TGAAGCCCAGGGTACTGCAG -3'
(R):5'- CTCTGTAGGTACATGATAGCGGCG -3'

Posted On

2015-06-10