Mutagenetix > Incidental Mutation

Incidental Mutation 'R0032:Itga11'

18619

Institutional Source

Beutler Lab

Gene Symbol

Itga11

Ensembl Gene

ENSMUSG00000032243

Gene Name

integrin alpha 11

Synonyms

4732459H24Rik

MMRRC Submission

038326-MU

Accession Numbers

Essential gene?

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

Stock #

R0032 (G1) of strain 731

Quality Score

Status

Validated

Chromosome

Chromosomal Location

62585108-62691264 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62681377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 998 (F998L)

Ref Sequence

ENSEMBL: ENSMUSP00000034774 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034774
AA Change: F998L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000034774
Gene: ENSMUSG00000032243
AA Change: F998L

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

0.1294

Coding Region Coverage

1x: 80.9%
3x: 73.4%
10x: 52.4%
20x: 32.5%

Validation Efficiency

94% (87/93)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	A	10: 106,959,156 (GRCm39)	T97S	probably benign	Het
Adcy1	T	C	11: 7,094,729 (GRCm39)	S552P	possibly damaging	Het
C2cd3	T	A	7: 100,093,652 (GRCm39)		probably benign	Het
Cd86	A	T	16: 36,441,235 (GRCm39)	S77R	probably damaging	Het
Cfap54	C	T	10: 92,768,559 (GRCm39)	R188H	probably benign	Het
Cpne8	T	A	15: 90,453,771 (GRCm39)		probably benign	Het
Ctsg	T	A	14: 56,339,196 (GRCm39)	I21F	probably damaging	Het
Cyp2j9	T	G	4: 96,457,043 (GRCm39)	N476T	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,746,387 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,671,057 (GRCm39)	L995*	probably null	Het
Dnah10	A	G	5: 124,877,955 (GRCm39)	K2623R	possibly damaging	Het
Dnajc21	G	T	15: 10,461,963 (GRCm39)	T146K	probably benign	Het
Dnmbp	A	C	19: 43,891,158 (GRCm39)	L203R	probably damaging	Het
Eif4g1	C	T	16: 20,504,648 (GRCm39)	S829F	probably damaging	Het
Enkur	T	C	2: 21,194,115 (GRCm39)	I153V	probably benign	Het
Erf	T	C	7: 24,944,500 (GRCm39)	Y277C	possibly damaging	Het
Fcsk	G	A	8: 111,618,735 (GRCm39)	T341M	possibly damaging	Het
Fstl5	T	A	3: 76,555,742 (GRCm39)		probably benign	Het
Grm3	A	G	5: 9,561,452 (GRCm39)		probably null	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Ipo8	A	G	6: 148,712,209 (GRCm39)	C261R	probably damaging	Het
Krt74	T	A	15: 101,669,887 (GRCm39)		noncoding transcript	Het
Me2	T	G	18: 73,927,596 (GRCm39)	M219L	probably benign	Het
Mlh3	A	G	12: 85,292,523 (GRCm39)		probably benign	Het
Nfx1	T	A	4: 41,015,321 (GRCm39)	V842E	probably benign	Het
Oma1	T	A	4: 103,223,209 (GRCm39)	S465T	possibly damaging	Het
Opa1	A	T	16: 29,433,887 (GRCm39)	H574L	probably damaging	Het
Pcsk5	T	C	19: 17,542,179 (GRCm39)	N804S	possibly damaging	Het
Pde4a	C	A	9: 21,112,728 (GRCm39)		probably benign	Het
Pilra	T	A	5: 137,829,527 (GRCm39)	D179V	probably damaging	Het
Piwil1	G	A	5: 128,820,344 (GRCm39)	S247N	probably benign	Het
Prss58	T	G	6: 40,872,633 (GRCm39)	T158P	probably benign	Het
Slc35e3	T	C	10: 117,580,837 (GRCm39)	M156V	probably benign	Het
Slit2	G	A	5: 48,414,198 (GRCm39)	R938Q	probably damaging	Het
Syt8	T	C	7: 141,992,926 (GRCm39)	V152A	probably benign	Het
Tppp2	G	T	14: 52,156,866 (GRCm39)	R81L	possibly damaging	Het
Trpc3	A	G	3: 36,698,405 (GRCm39)	I618T	probably damaging	Het
Zc3h4	T	A	7: 16,168,565 (GRCm39)	D891E	unknown	Het
Zfp120	A	T	2: 149,959,512 (GRCm39)	V270E	possibly 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
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
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

Posted On

2013-03-25