Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01918:Itga11'

180015

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 #

IGL01918

Quality Score

Status

Chromosome

Chromosomal Location

62585108-62691264 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 62680278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 973 (N973K)

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: N973K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000034774
Gene: ENSMUSG00000032243
AA Change: N973K

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	T	C	7: 42,097,098 (GRCm39)	Q71R	probably benign	Het
Ankfy1	T	C	11: 72,631,281 (GRCm39)	V409A	probably benign	Het
Ap4m1	A	G	5: 138,171,106 (GRCm39)	T69A	probably damaging	Het
B3gat2	A	T	1: 23,884,209 (GRCm39)	K306*	probably null	Het
Calr	A	G	8: 85,569,479 (GRCm39)		probably benign	Het
Ccdc54	C	T	16: 50,411,215 (GRCm39)	W17*	probably null	Het
Cd68	T	C	11: 69,555,927 (GRCm39)	S204G	possibly damaging	Het
Cep128	A	T	12: 91,200,984 (GRCm39)	I342K	probably damaging	Het
Ces1d	T	A	8: 93,904,703 (GRCm39)	I346L	probably benign	Het
Cfap70	T	A	14: 20,475,467 (GRCm39)	D418V	possibly damaging	Het
Cntnap4	A	T	8: 113,478,866 (GRCm39)	R197S	possibly damaging	Het
Ddx31	G	T	2: 28,764,176 (GRCm39)	V461F	probably damaging	Het
Eps15l1	T	C	8: 73,121,756 (GRCm39)	M714V	possibly damaging	Het
Fshb	A	T	2: 106,889,272 (GRCm39)	F11I	probably benign	Het
Fsip2	T	G	2: 82,822,482 (GRCm39)	C6072G	possibly damaging	Het
Fuz	T	G	7: 44,546,383 (GRCm39)	L93R	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm8991	G	A	5: 16,935,678 (GRCm39)		noncoding transcript	Het
Lca5	T	A	9: 83,305,201 (GRCm39)	T202S	probably damaging	Het
Lrp1	G	A	10: 127,390,458 (GRCm39)	L3053F	probably damaging	Het
Mapk13	T	C	17: 28,994,304 (GRCm39)	Y129H	probably damaging	Het
Mast1	T	A	8: 85,647,838 (GRCm39)	H512L	probably damaging	Het
Mlip	T	C	9: 77,081,281 (GRCm39)	N213S	probably damaging	Het
Mtcl1	C	T	17: 66,675,263 (GRCm39)	G734R	possibly damaging	Het
Myo9a	T	A	9: 59,686,985 (GRCm39)	I30N	probably damaging	Het
Or4b13	A	G	2: 90,082,675 (GRCm39)	I219T	probably damaging	Het
Pctp	T	C	11: 89,878,162 (GRCm39)	D124G	probably benign	Het
Phc3	A	G	3: 30,968,565 (GRCm39)		probably null	Het
Plat	T	A	8: 23,270,453 (GRCm39)	F457I	possibly damaging	Het
Snw1	T	C	12: 87,502,438 (GRCm39)	K319E	probably benign	Het
Sox8	A	G	17: 25,789,111 (GRCm39)	L129P	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stc1	A	T	14: 69,269,103 (GRCm39)		probably benign	Het
Szt2	A	G	4: 118,241,450 (GRCm39)		probably benign	Het
Tmem81	T	A	1: 132,435,698 (GRCm39)	V168D	probably damaging	Het
Ttc41	C	A	10: 86,549,054 (GRCm39)	Q83K	probably damaging	Het
Ugt1a5	T	C	1: 88,094,267 (GRCm39)	V165A	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vps33b	A	G	7: 79,937,560 (GRCm39)		probably null	Het
Zap70	T	C	1: 36,817,868 (GRCm39)	Y290H	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
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

2014-05-07