Mutagenetix > Incidental Mutation

Incidental Mutation 'R7310:Itga10'

567482

Institutional Source

Beutler Lab

Gene Symbol

Itga10

Ensembl Gene

ENSMUSG00000090210

Gene Name

integrin, alpha 10

Synonyms

MMRRC Submission

045409-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R7310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96645584-96664519 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 96648159 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 143 (A143D)

Ref Sequence

ENSEMBL: ENSMUSP00000112393 (fasta)

Gene Model

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

AlphaFold

E9Q6R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029744
AA Change: A143D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: A143D

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: A143D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: A143D

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: A328D

SMART Domains

Protein: ENSMUSP00000121011
Gene: ENSMUSG00000106447
AA Change: A328D

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

probably benign
Transcript: ENSMUST00000156015

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,880,268	Q192L	possibly damaging	Het
3110002H16Rik	A	G	18: 12,184,915	K362E	probably benign	Het
Abat	G	A	16: 8,605,593	R250Q	probably null	Het
Abcg3	A	C	5: 104,966,766	F295C	probably benign	Het
Abl1	T	C	2: 31,800,592	S708P	possibly damaging	Het
Acap2	A	T	16: 31,108,154	Y489*	probably null	Het
Akr1c6	A	T	13: 4,436,355	M54L	probably benign	Het
Arhgap5	A	T	12: 52,542,487		probably null	Het
Asap1	A	G	15: 64,099,530		probably null	Het
Atrnl1	A	T	19: 57,642,424	N208Y	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,888,139		probably benign	Het
BC028528	G	GGGGTCACTGGTTCTT	3: 95,888,148		probably benign	Het
BC028528	GTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTG	3: 95,888,173		probably benign	Het
BC049762	A	C	11: 51,254,647	W38G	probably damaging	Het
Bmi1	T	C	2: 18,684,419	S305P	probably benign	Het
Bpifc	T	A	10: 85,963,027	I431F	probably damaging	Het
C130050O18Rik	A	T	5: 139,415,238	M349L	probably benign	Het
Cacna2d1	A	T	5: 16,314,916	D428V	probably damaging	Het
Card14	A	C	11: 119,326,179	Q363P	probably null	Het
Cdca2	A	T	14: 67,713,224	L86H	probably damaging	Het
Cdh22	G	T	2: 165,112,294	S769*	probably null	Het
Cep164	T	C	9: 45,775,366	E690G	probably damaging	Het
Cluh	A	G	11: 74,669,459	H1304R	probably benign	Het
Daxx	C	A	17: 33,910,461	D5E	possibly damaging	Het
Dnah7c	A	G	1: 46,596,967	M1117V	possibly damaging	Het
Dusp27	G	A	1: 166,098,731	T1104I	possibly damaging	Het
Entpd3	T	A	9: 120,560,755		probably null	Het
Esr1	G	A	10: 4,939,259	A386T	probably damaging	Het
Etv5	G	A	16: 22,401,737	P300L	probably benign	Het
Exoc3l	A	T	8: 105,293,708	L195Q	probably damaging	Het
Exog	T	C	9: 119,445,003	L18P	unknown	Het
Fgfr1	T	A	8: 25,562,315	V219D	probably benign	Het
Gm28710	A	G	5: 16,870,248	Y872C	possibly damaging	Het
Gna14	A	T	19: 16,533,749	Q54L		Het
Gnb5	T	C	9: 75,314,288	L48P	probably benign	Het
Gpbp1	A	G	13: 111,453,390	I57T	probably benign	Het
Hnrnpa1	T	A	15: 103,241,457	D48E	probably damaging	Het
Hrc	T	A	7: 45,335,803	L126*	probably null	Het
Hspa8	T	G	9: 40,803,408	D333E	probably benign	Het
Igsf3	T	A	3: 101,431,579	V403D	probably benign	Het
Kdr	T	A	5: 75,944,325	I1082F	probably damaging	Het
Klk11	A	T	7: 43,778,830	I242F	probably damaging	Het
Kng2	G	A	16: 22,987,772	T559I	probably benign	Het
Map1b	G	A	13: 99,433,655	P853S	unknown	Het
Mmp13	T	C	9: 7,280,880	I421T	possibly damaging	Het
Mpeg1	A	T	19: 12,462,251	T358S	probably damaging	Het
Mttp	T	C	3: 138,095,022	D759G	probably damaging	Het
Mup17	T	A	4: 61,593,692	Y115F	possibly damaging	Het
Myo1a	G	T	10: 127,705,828	A79S	probably damaging	Het
Myo9a	T	A	9: 59,871,153	N1397K	probably benign	Het
Nadk2	T	C	15: 9,103,381		probably null	Het
Ncf1	A	T	5: 134,221,761	S402T	probably benign	Het
Ndufb10	T	C	17: 24,722,214	D145G	probably damaging	Het
Nlgn2	G	A	11: 69,830,583	T163M	possibly damaging	Het
Nol4	A	T	18: 22,770,744	H172Q		Het
Nup205	T	A	6: 35,225,969	D1370E	possibly damaging	Het
Olfr1447	A	G	19: 12,901,273	F169S	probably damaging	Het
Olfr392	A	C	11: 73,814,286	N265K	probably damaging	Het
Olfr613	T	A	7: 103,552,685	I300N	probably damaging	Het
Pkd1l2	A	G	8: 117,024,034	V1746A	probably benign	Het
Plin2	T	A	4: 86,668,391	I68F	probably benign	Het
Proc	A	T	18: 32,135,899	M11K	probably benign	Het
Rif1	T	C	2: 52,105,619	V950A	probably benign	Het
Rnf208	C	A	2: 25,243,575	P94T	probably damaging	Het
Rundc3b	A	T	5: 8,521,011	Y269*	probably null	Het
Senp7	T	C	16: 56,186,082	V950A	probably benign	Het
Sipa1l1	T	C	12: 82,372,495	V649A	probably damaging	Het
Sipa1l3	G	T	7: 29,399,696	H383N	probably benign	Het
Slc12a5	G	A	2: 164,992,440	V794M	probably damaging	Het
Slc7a7	A	G	14: 54,379,025	I200T	probably damaging	Het
Spdye4b	A	C	5: 143,202,348	I199L	probably damaging	Het
Tle4	A	T	19: 14,517,791	H191Q	probably benign	Het
Tnfsf13b	C	A	8: 10,031,651	S271*	probably null	Het
Tnks2	G	A	19: 36,879,439	V855I	probably benign	Het
Trank1	T	C	9: 111,367,126	L1406S	probably damaging	Het
Trhde	T	C	10: 114,800,573	E243G	probably damaging	Het
Trim25	A	T	11: 89,015,782	N448I	probably benign	Het
Trim31	T	A	17: 36,907,302	M308K	probably benign	Het
Ugt2b36	A	T	5: 87,066,279	V502E	possibly damaging	Het
Usp10	A	C	8: 119,941,605	D215A	possibly damaging	Het
Usp33	T	G	3: 152,360,389	L102*	probably null	Het
Wdr12	A	T	1: 60,082,575	C272*	probably null	Het
Xndc1	A	C	7: 102,078,731		probably null	Het
Zkscan2	T	C	7: 123,490,053	I332V	possibly damaging	Het
Zswim5	A	T	4: 116,984,688	T822S	probably benign	Het

Other mutations in Itga10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Itga10	APN	3	96647641	missense	probably damaging	0.96
IGL01694:Itga10	APN	3	96652517	missense	probably damaging	0.99
IGL01754:Itga10	APN	3	96656775	unclassified	probably benign
IGL02527:Itga10	APN	3	96655624	unclassified	probably benign
IGL02956:Itga10	APN	3	96655113	missense	possibly damaging	0.46
IGL03371:Itga10	APN	3	96654788	missense	possibly damaging	0.84
IGL03055:Itga10	UTSW	3	96650520	missense	probably damaging	0.99
PIT4515001:Itga10	UTSW	3	96662632	missense	probably damaging	0.99
R0153:Itga10	UTSW	3	96653700	missense	probably benign	0.00
R0308:Itga10	UTSW	3	96651464	missense	probably damaging	1.00
R0331:Itga10	UTSW	3	96652483	missense	probably damaging	1.00
R0413:Itga10	UTSW	3	96649059	missense	probably damaging	1.00
R0437:Itga10	UTSW	3	96649137	missense	probably damaging	1.00
R0511:Itga10	UTSW	3	96658174	missense	probably damaging	1.00
R0630:Itga10	UTSW	3	96656299	unclassified	probably benign
R0844:Itga10	UTSW	3	96651738	splice site	probably benign
R0849:Itga10	UTSW	3	96652530	missense	possibly damaging	0.67
R0894:Itga10	UTSW	3	96653660	missense	possibly damaging	0.69
R0919:Itga10	UTSW	3	96651738	splice site	probably benign
R1027:Itga10	UTSW	3	96651738	splice site	probably benign
R1341:Itga10	UTSW	3	96652495	missense	probably damaging	1.00
R1350:Itga10	UTSW	3	96657477	missense	probably benign	0.01
R1370:Itga10	UTSW	3	96651738	splice site	probably benign
R1467:Itga10	UTSW	3	96652229	nonsense	probably null
R1467:Itga10	UTSW	3	96652229	nonsense	probably null
R1589:Itga10	UTSW	3	96651738	splice site	probably benign
R1590:Itga10	UTSW	3	96651738	splice site	probably benign
R1601:Itga10	UTSW	3	96653658	missense	possibly damaging	0.82
R1659:Itga10	UTSW	3	96662977	missense	probably damaging	0.96
R1665:Itga10	UTSW	3	96651738	splice site	probably benign
R1667:Itga10	UTSW	3	96651738	splice site	probably benign
R1686:Itga10	UTSW	3	96651825	missense	probably damaging	0.97
R1972:Itga10	UTSW	3	96651738	splice site	probably benign
R1976:Itga10	UTSW	3	96651738	splice site	probably benign
R2020:Itga10	UTSW	3	96652490	missense	probably damaging	1.00
R2040:Itga10	UTSW	3	96651738	splice site	probably benign
R2044:Itga10	UTSW	3	96651738	splice site	probably benign
R2044:Itga10	UTSW	3	96657690	missense	probably benign
R2045:Itga10	UTSW	3	96651738	splice site	probably benign
R2060:Itga10	UTSW	3	96654998	nonsense	probably null
R2146:Itga10	UTSW	3	96651492	missense	possibly damaging	0.59
R2146:Itga10	UTSW	3	96653723	missense	probably damaging	1.00
R2170:Itga10	UTSW	3	96650457	missense	probably damaging	1.00
R2893:Itga10	UTSW	3	96655100	missense	probably benign	0.11
R2926:Itga10	UTSW	3	96652849	missense	probably damaging	1.00
R3622:Itga10	UTSW	3	96651738	splice site	probably benign
R3623:Itga10	UTSW	3	96651738	splice site	probably benign
R4416:Itga10	UTSW	3	96658246	missense	possibly damaging	0.58
R4633:Itga10	UTSW	3	96647704	missense	possibly damaging	0.92
R5074:Itga10	UTSW	3	96652211	nonsense	probably null
R5095:Itga10	UTSW	3	96648164	missense	probably benign	0.21
R5495:Itga10	UTSW	3	96647371	missense	possibly damaging	0.92
R5813:Itga10	UTSW	3	96652585	missense	probably benign	0.38
R6114:Itga10	UTSW	3	96649035	missense	probably damaging	1.00
R6172:Itga10	UTSW	3	96647437	missense	probably benign	0.18
R6275:Itga10	UTSW	3	96658185	missense	probably benign	0.36
R6298:Itga10	UTSW	3	96656762	missense	probably benign	0.00
R6433:Itga10	UTSW	3	96658041	critical splice donor site	probably null
R6841:Itga10	UTSW	3	96656714	missense	probably damaging	1.00
R6909:Itga10	UTSW	3	96662599	missense	probably benign	0.00
R6927:Itga10	UTSW	3	96656714	missense	probably damaging	1.00
R7124:Itga10	UTSW	3	96651765	missense	probably damaging	0.96
R7387:Itga10	UTSW	3	96652778	missense	probably benign	0.11
R7464:Itga10	UTSW	3	96648155	missense	probably damaging	1.00
R7624:Itga10	UTSW	3	96652953	missense	probably benign
R7638:Itga10	UTSW	3	96657391	splice site	probably null
R7639:Itga10	UTSW	3	96649582	missense	probably benign	0.36
R7893:Itga10	UTSW	3	96649612	missense	probably damaging	1.00
R8297:Itga10	UTSW	3	96654800	missense	probably damaging	1.00
R8753:Itga10	UTSW	3	96651155	missense	probably damaging	1.00
R9526:Itga10	UTSW	3	96656957	missense	probably damaging	1.00
X0064:Itga10	UTSW	3	96652936	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACCGTGGTAAGGGAAATTAGTC -3'
(R):5'- ACAGGAGCCTCTTCTGCAAG -3'

Sequencing Primer
(F):5'- TTCAAAACCCTAGAGAGCAAGG -3'
(R):5'- GAGCCTCTTCTGCAAGCACAC -3'

Posted On

2019-06-26