Mutagenetix > Incidental Mutation

Incidental Mutation 'R2170:Itga10'

237415

Institutional Source

Beutler Lab

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 #

R2170 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96552900-96571835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96557773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 272 (V272A)

Ref Sequence

ENSEMBL: ENSMUSP00000112393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029744] [ENSMUST00000119365] [ENSMUST00000137564]

AlphaFold

E9Q6R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029744
AA Change: V272A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: V272A

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 damaging
Transcript: ENSMUST00000119365
AA Change: V272A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: V272A

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

probably benign
Transcript: ENSMUST00000137564

SMART Domains

Protein: ENSMUSP00000121011
Gene: ENSMUSG00000106447

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,697,896 (GRCm39)	S404P	probably damaging	Het
4933434E20Rik	T	A	3: 89,963,611 (GRCm39)	L89Q	probably benign	Het
Atxn2l	T	A	7: 126,102,411 (GRCm39)		probably benign	Het
Bcl6	A	G	16: 23,793,680 (GRCm39)	F89S	probably damaging	Het
Ccdc168	A	T	1: 44,095,168 (GRCm39)	S1977T	probably benign	Het
Ccr1l1	C	A	9: 123,778,172 (GRCm39)	V92F	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Chrne	T	C	11: 70,509,323 (GRCm39)	N86S	probably damaging	Het
Copg2	CCTCATC	CC	6: 30,789,757 (GRCm39)		probably null	Het
Elapor2	A	G	5: 9,529,206 (GRCm39)	D221G	probably damaging	Het
Eps8l2	T	C	7: 140,921,984 (GRCm39)	S21P	probably benign	Het
Glb1	CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	9: 114,302,873 (GRCm39)		probably benign	Het
Gngt2	A	G	11: 95,728,071 (GRCm39)		probably benign	Het
Hecw2	T	A	1: 53,981,956 (GRCm39)	E135V	probably damaging	Het
Hmcn2	G	A	2: 31,270,293 (GRCm39)	A1177T	probably benign	Het
Kif17	A	G	4: 138,015,682 (GRCm39)	I418M	probably benign	Het
Knl1	T	C	2: 118,918,075 (GRCm39)		probably null	Het
Lamc1	C	T	1: 153,124,888 (GRCm39)	A628T	probably benign	Het
Mag	A	T	7: 30,608,412 (GRCm39)	L234*	probably null	Het
Muc5ac	T	A	7: 141,366,084 (GRCm39)	V2080E	possibly damaging	Het
Myo18b	T	C	5: 112,871,724 (GRCm39)	D2119G	probably benign	Het
Ncam1	C	T	9: 49,709,981 (GRCm39)	A17T	probably benign	Het
Nipbl	A	G	15: 8,322,702 (GRCm39)	Y2570H	probably damaging	Het
Oasl2	T	C	5: 115,044,861 (GRCm39)	V129A	probably damaging	Het
Or14a257	T	A	7: 86,137,778 (GRCm39)	H327L	probably benign	Het
Or4k47	C	T	2: 111,451,945 (GRCm39)	S158N	possibly damaging	Het
Podn	A	T	4: 107,879,730 (GRCm39)	L85Q	probably damaging	Het
Ppp1r12c	A	T	7: 4,485,805 (GRCm39)	D680E	possibly damaging	Het
Prdm14	G	A	1: 13,192,684 (GRCm39)	L352F	probably damaging	Het
Prob1	G	T	18: 35,787,790 (GRCm39)	Q155K	probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Shoc1	A	G	4: 59,069,215 (GRCm39)	L737S	possibly damaging	Het
Stard5	A	G	7: 83,282,366 (GRCm39)	T60A	probably benign	Het
Syt7	A	G	19: 10,416,744 (GRCm39)	K402E	probably damaging	Het
Tll2	T	A	19: 41,171,714 (GRCm39)	D69V	probably damaging	Het
Vmn1r40	T	C	6: 89,691,957 (GRCm39)	F258S	probably benign	Het
Zfp759	T	A	13: 67,284,812 (GRCm39)	Y19N	possibly damaging	Het

Other mutations in Itga10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Itga10	APN	3	96,554,957 (GRCm39)	missense	probably damaging	0.96
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	96,559,054 (GRCm39)	splice site	probably benign
R2044:Itga10	UTSW	3	96,565,006 (GRCm39)	missense	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
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

Predicted Primers

PCR Primer
(F):5'- ATCTGACCTCAGTGAACTGCTG -3'
(R):5'- CTGATGCATGCACACATATCAC -3'

Sequencing Primer
(F):5'- gtgcatgcatatgcacac -3'
(R):5'- GATGCATGCACACATATCACACATAC -3'

Posted On

2014-10-02