Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00933:Itga11'

28179

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itga11

Ensembl Gene

ENSMUSG00000032243

Gene Name

integrin alpha 11

Synonyms

4732459H24Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00933

Quality Score

Status

Chromosome

Chromosomal Location

62585108-62691264 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62676587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 925 (I925T)

Ref Sequence

ENSEMBL: ENSMUSP00000034774 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034774
AA Change: I925T

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034774
Gene: ENSMUSG00000032243
AA Change: I925T

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

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arrdc3	T	A	13: 81,039,174 (GRCm39)		probably benign	Het
Brca2	A	G	5: 150,465,869 (GRCm39)	S1878G	probably benign	Het
Cpa6	T	C	1: 10,407,595 (GRCm39)	H314R	probably benign	Het
Ehbp1l1	A	G	19: 5,767,961 (GRCm39)	I1114T	probably benign	Het
Eml3	G	A	19: 8,913,762 (GRCm39)	W73*	probably null	Het
Fmo4	G	T	1: 162,621,592 (GRCm39)	Q540K	probably benign	Het
Fstl4	G	A	11: 53,077,588 (GRCm39)	G782R	possibly damaging	Het
Itsn2	T	G	12: 4,757,540 (GRCm39)	F1411C	probably damaging	Het
Lmna	A	T	3: 88,389,856 (GRCm39)	C590S	possibly damaging	Het
Magi3	A	G	3: 103,923,163 (GRCm39)	Y1185H	probably benign	Het
Marf1	A	G	16: 13,935,221 (GRCm39)	Y1516H	probably damaging	Het
Mast4	T	C	13: 102,871,874 (GRCm39)	D2306G	probably damaging	Het
Ncoa6	A	G	2: 155,257,317 (GRCm39)	V742A	probably damaging	Het
Nol4l	A	G	2: 153,319,856 (GRCm39)	F175S	probably damaging	Het
Or9k2b	A	T	10: 130,016,083 (GRCm39)	M222K	probably benign	Het
Orm2	T	C	4: 63,282,389 (GRCm39)		probably benign	Het
Pik3cb	T	A	9: 98,983,339 (GRCm39)	T90S	probably damaging	Het
Plekhg2	G	A	7: 28,060,114 (GRCm39)	P1072S	probably benign	Het
Rgr	A	T	14: 36,760,875 (GRCm39)	Y227*	probably null	Het
Snd1	T	C	6: 28,512,985 (GRCm39)		probably null	Het
Zfp560	A	G	9: 20,260,104 (GRCm39)	S253P	probably benign	Het

Other mutations in Itga11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-04-17