Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01473:Itga10'

88336

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itga10

Ensembl Gene

ENSMUSG00000090210

Gene Name

integrin, alpha 10

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

IGL01473

Quality Score

Status

Chromosome

Chromosomal Location

96552900-96571835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96554957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 97 (G97E)

Ref Sequence

ENSEMBL: ENSMUSP00000112393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029744] [ENSMUST00000048766] [ENSMUST00000118557] [ENSMUST00000119365] [ENSMUST00000137564] [ENSMUST00000165842] [ENSMUST00000156015]

AlphaFold

E9Q6R1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029744
AA Change: G97E

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: G97E

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Int_alpha	37	93	9.03e-3	SMART
VWA	165	355	9.6e-43	SMART
Int_alpha	427	481	2.01e0	SMART
Int_alpha	482	539	5.14e-7	SMART
Int_alpha	545	600	5.34e-14	SMART
Int_alpha	607	652	8.75e0	SMART
transmembrane domain	1123	1145	N/A	INTRINSIC
low complexity region	1153	1166	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048766

SMART Domains

Protein: ENSMUSP00000037962
Gene: ENSMUSG00000028102

Domain	Start	End	E-Value	Type
Pfam:PEX11	1	251	1.9e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118557

SMART Domains

Protein: ENSMUSP00000113365
Gene: ENSMUSG00000028102

Domain	Start	End	E-Value	Type
Pfam:PEX11	1	251	8.3e-77	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119365
AA Change: G97E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: G97E

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Int_alpha	37	93	9.03e-3	SMART
VWA	165	355	9.6e-43	SMART
Int_alpha	427	481	2.01e0	SMART
Int_alpha	482	539	5.14e-7	SMART
Int_alpha	545	600	5.34e-14	SMART
Int_alpha	607	652	8.75e0	SMART
transmembrane domain	1122	1144	N/A	INTRINSIC
low complexity region	1152	1165	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000137564
AA Change: G282E

SMART Domains

Protein: ENSMUSP00000121011
Gene: ENSMUSG00000106447
AA Change: G282E

Domain	Start	End	E-Value	Type
Pfam:PEX11	1	172	4.5e-57	PFAM
low complexity region	186	204	N/A	INTRINSIC
Int_alpha	222	278	9.03e-3	SMART
Blast:VWA	292	345	3e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147821

Predicted Effect

probably benign
Transcript: ENSMUST00000165842

SMART Domains

Protein: ENSMUSP00000126631
Gene: ENSMUSG00000028102

Domain	Start	End	E-Value	Type
Pfam:PEX11	3	237	8.9e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156015

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Integrins are integral transmembrane glycoproteins composed of noncovalently linked alpha and beta chains. They participate in cell adhesion as well as cell-surface mediated signalling. This gene encodes an integrin alpha chain and is expressed at high levels in chondrocytes, where it is transcriptionally regulated by AP-2epsilon and Ets-1. The protein encoded by this gene binds to collagen. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous null mice display slightly shortened long bones and amild abnormalities in ephysiseal plate morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	T	C	16: 29,135,542 (GRCm39)	Y350C	probably damaging	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Clcn1	C	A	6: 42,268,637 (GRCm39)	A181D	probably damaging	Het
Cylc1	G	T	X: 110,166,449 (GRCm39)	K243N	unknown	Het
Dsp	A	G	13: 38,351,547 (GRCm39)	Y122C	probably damaging	Het
Exoc5	A	G	14: 49,251,751 (GRCm39)	V665A	possibly damaging	Het
Fcho1	G	A	8: 72,164,782 (GRCm39)	P500S	probably benign	Het
Flg2	A	G	3: 93,110,327 (GRCm39)	E785G	unknown	Het
Fpr1	A	G	17: 18,097,954 (GRCm39)	S12P	possibly damaging	Het
Hydin	G	T	8: 111,081,585 (GRCm39)	G327V	probably damaging	Het
Hydin	A	T	8: 111,038,792 (GRCm39)	M177L	probably benign	Het
Khdc1c	T	A	1: 21,439,130 (GRCm39)	Y39N	possibly damaging	Het
Lrp1b	T	G	2: 40,501,498 (GRCm39)	T202P	probably damaging	Het
Marchf10	T	C	11: 105,280,431 (GRCm39)	K618R	probably damaging	Het
Mdc1	C	A	17: 36,158,912 (GRCm39)	L431I	probably benign	Het
Mmp17	A	G	5: 129,683,472 (GRCm39)	D536G	probably benign	Het
Myh8	G	A	11: 67,192,651 (GRCm39)		probably null	Het
Odad3	C	A	9: 21,906,675 (GRCm39)		probably null	Het
Pop4	A	G	7: 37,963,820 (GRCm39)	V154A	probably benign	Het
Ppp1r13l	C	T	7: 19,109,193 (GRCm39)	R608C	probably damaging	Het
Prss36	T	C	7: 127,543,873 (GRCm39)	H166R	probably damaging	Het
Rab11fip3	C	T	17: 26,287,709 (GRCm39)	R148Q	possibly damaging	Het
Rbm39	T	A	2: 156,014,899 (GRCm39)	R49*	probably null	Het
S100a11	T	C	3: 93,433,413 (GRCm39)	C86R	probably damaging	Het
Skint7	T	C	4: 111,839,402 (GRCm39)	I232T	probably damaging	Het
Smchd1	G	A	17: 71,696,745 (GRCm39)	T1210I	probably benign	Het
Speg	C	T	1: 75,404,929 (GRCm39)	T2907I	possibly damaging	Het
Spz1	A	T	13: 92,711,764 (GRCm39)	C237*	probably null	Het
Sun3	G	T	11: 8,979,394 (GRCm39)	D42E	probably benign	Het
Tgds	C	T	14: 118,365,626 (GRCm39)		probably benign	Het
Tnxb	G	A	17: 34,904,675 (GRCm39)	D1270N	probably damaging	Het
Vmn2r78	A	C	7: 86,569,520 (GRCm39)	T138P	possibly damaging	Het
Wdfy1	T	C	1: 79,685,182 (GRCm39)	I351V	probably benign	Het

Other mutations in Itga10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01694:Itga10	APN	3	96,559,833 (GRCm39)	missense	probably damaging	0.99
IGL01754:Itga10	APN	3	96,564,091 (GRCm39)	unclassified	probably benign
IGL02527:Itga10	APN	3	96,562,940 (GRCm39)	unclassified	probably benign
IGL02956:Itga10	APN	3	96,562,429 (GRCm39)	missense	possibly damaging	0.46
IGL03371:Itga10	APN	3	96,562,104 (GRCm39)	missense	possibly damaging	0.84
IGL03055:Itga10	UTSW	3	96,557,836 (GRCm39)	missense	probably damaging	0.99
PIT4515001:Itga10	UTSW	3	96,569,948 (GRCm39)	missense	probably damaging	0.99
R0153:Itga10	UTSW	3	96,561,016 (GRCm39)	missense	probably benign	0.00
R0308:Itga10	UTSW	3	96,558,780 (GRCm39)	missense	probably damaging	1.00
R0331:Itga10	UTSW	3	96,559,799 (GRCm39)	missense	probably damaging	1.00
R0413:Itga10	UTSW	3	96,556,375 (GRCm39)	missense	probably damaging	1.00
R0437:Itga10	UTSW	3	96,556,453 (GRCm39)	missense	probably damaging	1.00
R0511:Itga10	UTSW	3	96,565,490 (GRCm39)	missense	probably damaging	1.00
R0630:Itga10	UTSW	3	96,563,615 (GRCm39)	unclassified	probably benign
R0844:Itga10	UTSW	3	96,559,054 (GRCm39)	splice site	probably benign
R0849:Itga10	UTSW	3	96,559,846 (GRCm39)	missense	possibly damaging	0.67
R0894:Itga10	UTSW	3	96,560,976 (GRCm39)	missense	possibly damaging	0.69
R0919:Itga10	UTSW	3	96,559,054 (GRCm39)	splice site	probably benign
R1027:Itga10	UTSW	3	96,559,054 (GRCm39)	splice site	probably benign
R1341:Itga10	UTSW	3	96,559,811 (GRCm39)	missense	probably damaging	1.00
R1350:Itga10	UTSW	3	96,564,793 (GRCm39)	missense	probably benign	0.01
R1370:Itga10	UTSW	3	96,559,054 (GRCm39)	splice site	probably benign
R1467:Itga10	UTSW	3	96,559,545 (GRCm39)	nonsense	probably null
R1467:Itga10	UTSW	3	96,559,545 (GRCm39)	nonsense	probably null
R1589:Itga10	UTSW	3	96,559,054 (GRCm39)	splice site	probably benign
R1590:Itga10	UTSW	3	96,559,054 (GRCm39)	splice site	probably benign
R1601:Itga10	UTSW	3	96,560,974 (GRCm39)	missense	possibly damaging	0.82
R1659:Itga10	UTSW	3	96,570,293 (GRCm39)	missense	probably damaging	0.96
R1665:Itga10	UTSW	3	96,559,054 (GRCm39)	splice site	probably benign
R1667:Itga10	UTSW	3	96,559,054 (GRCm39)	splice site	probably benign
R1686:Itga10	UTSW	3	96,559,141 (GRCm39)	missense	probably damaging	0.97
R1972:Itga10	UTSW	3	96,559,054 (GRCm39)	splice site	probably benign
R1976:Itga10	UTSW	3	96,559,054 (GRCm39)	splice site	probably benign
R2020:Itga10	UTSW	3	96,559,806 (GRCm39)	missense	probably damaging	1.00
R2040:Itga10	UTSW	3	96,559,054 (GRCm39)	splice site	probably benign
R2044:Itga10	UTSW	3	96,565,006 (GRCm39)	missense	probably benign
R2044:Itga10	UTSW	3	96,559,054 (GRCm39)	splice site	probably benign
R2045:Itga10	UTSW	3	96,559,054 (GRCm39)	splice site	probably benign
R2060:Itga10	UTSW	3	96,562,314 (GRCm39)	nonsense	probably null
R2146:Itga10	UTSW	3	96,561,039 (GRCm39)	missense	probably damaging	1.00
R2146:Itga10	UTSW	3	96,558,808 (GRCm39)	missense	possibly damaging	0.59
R2170:Itga10	UTSW	3	96,557,773 (GRCm39)	missense	probably damaging	1.00
R2893:Itga10	UTSW	3	96,562,416 (GRCm39)	missense	probably benign	0.11
R2926:Itga10	UTSW	3	96,560,165 (GRCm39)	missense	probably damaging	1.00
R3622:Itga10	UTSW	3	96,559,054 (GRCm39)	splice site	probably benign
R3623:Itga10	UTSW	3	96,559,054 (GRCm39)	splice site	probably benign
R4416:Itga10	UTSW	3	96,565,562 (GRCm39)	missense	possibly damaging	0.58
R4633:Itga10	UTSW	3	96,555,020 (GRCm39)	missense	possibly damaging	0.92
R5074:Itga10	UTSW	3	96,559,527 (GRCm39)	nonsense	probably null
R5095:Itga10	UTSW	3	96,555,480 (GRCm39)	missense	probably benign	0.21
R5495:Itga10	UTSW	3	96,554,687 (GRCm39)	missense	possibly damaging	0.92
R5813:Itga10	UTSW	3	96,559,901 (GRCm39)	missense	probably benign	0.38
R6114:Itga10	UTSW	3	96,556,351 (GRCm39)	missense	probably damaging	1.00
R6172:Itga10	UTSW	3	96,554,753 (GRCm39)	missense	probably benign	0.18
R6275:Itga10	UTSW	3	96,565,501 (GRCm39)	missense	probably benign	0.36
R6298:Itga10	UTSW	3	96,564,078 (GRCm39)	missense	probably benign	0.00
R6433:Itga10	UTSW	3	96,565,357 (GRCm39)	critical splice donor site	probably null
R6841:Itga10	UTSW	3	96,564,030 (GRCm39)	missense	probably damaging	1.00
R6909:Itga10	UTSW	3	96,569,915 (GRCm39)	missense	probably benign	0.00
R6927:Itga10	UTSW	3	96,564,030 (GRCm39)	missense	probably damaging	1.00
R7124:Itga10	UTSW	3	96,559,081 (GRCm39)	missense	probably damaging	0.96
R7310:Itga10	UTSW	3	96,555,475 (GRCm39)	missense	probably damaging	1.00
R7387:Itga10	UTSW	3	96,560,094 (GRCm39)	missense	probably benign	0.11
R7464:Itga10	UTSW	3	96,555,471 (GRCm39)	missense	probably damaging	1.00
R7624:Itga10	UTSW	3	96,560,269 (GRCm39)	missense	probably benign
R7638:Itga10	UTSW	3	96,564,707 (GRCm39)	splice site	probably null
R7639:Itga10	UTSW	3	96,556,898 (GRCm39)	missense	probably benign	0.36
R7893:Itga10	UTSW	3	96,556,928 (GRCm39)	missense	probably damaging	1.00
R8297:Itga10	UTSW	3	96,562,116 (GRCm39)	missense	probably damaging	1.00
R8753:Itga10	UTSW	3	96,558,471 (GRCm39)	missense	probably damaging	1.00
R9526:Itga10	UTSW	3	96,564,273 (GRCm39)	missense	probably damaging	1.00
X0064:Itga10	UTSW	3	96,560,252 (GRCm39)	missense	probably benign	0.03

Posted On

2013-11-18