Mutagenetix > Incidental Mutation

Incidental Mutation 'R0511:Itga10'

46879

Institutional Source

Beutler Lab

Gene Symbol

Itga10

Ensembl Gene

ENSMUSG00000090210

Gene Name

integrin, alpha 10

Synonyms

MMRRC Submission

038705-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R0511 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96552900-96571835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96565490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1038 (N1038S)

Ref Sequence

ENSEMBL: ENSMUSP00000112393 (fasta)

Gene Model

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

AlphaFold

E9Q6R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029744
AA Change: N1039S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: N1039S

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: N1038S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: N1038S

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

noncoding transcript
Transcript: ENSMUST00000127607

Meta Mutation Damage Score

0.2650

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (116/116)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,843,771 (GRCm39)	H155R	possibly damaging	Het
Abca13	G	T	11: 9,244,559 (GRCm39)	V2141L	probably benign	Het
Adam17	T	C	12: 21,390,459 (GRCm39)		probably benign	Het
Adam3	A	T	8: 25,185,331 (GRCm39)	C456S	probably damaging	Het
Aldh4a1	G	T	4: 139,369,882 (GRCm39)		probably benign	Het
Anapc4	A	G	5: 52,999,359 (GRCm39)		probably benign	Het
Ank3	A	T	10: 69,718,198 (GRCm39)	Q483L	probably damaging	Het
Ankle2	A	G	5: 110,389,925 (GRCm39)		probably benign	Het
Ankrd13b	T	A	11: 77,364,114 (GRCm39)	T150S	possibly damaging	Het
Apeh	A	G	9: 107,964,254 (GRCm39)	M524T	probably benign	Het
Arl14epl	T	A	18: 47,059,484 (GRCm39)		probably null	Het
Atg2a	T	C	19: 6,302,569 (GRCm39)	F964S	possibly damaging	Het
Atg2b	C	T	12: 105,583,412 (GRCm39)	V2050M	probably damaging	Het
Atp2b4	A	T	1: 133,659,956 (GRCm39)		probably benign	Het
Bbof1	T	A	12: 84,477,045 (GRCm39)	S512T	probably benign	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Car10	T	C	11: 93,381,408 (GRCm39)	Y100H	probably damaging	Het
Ccdc81	T	A	7: 89,542,504 (GRCm39)	E124V	probably damaging	Het
Cd84	A	G	1: 171,700,494 (GRCm39)	T204A	probably benign	Het
Celf2	A	G	2: 6,608,987 (GRCm39)	S178P	probably damaging	Het
Chat	G	A	14: 32,130,976 (GRCm39)	T555M	probably damaging	Het
Chd6	A	G	2: 160,834,111 (GRCm39)	F917S	probably damaging	Het
Chrna2	C	A	14: 66,386,553 (GRCm39)	T233N	probably damaging	Het
Cnpy2	T	C	10: 128,162,054 (GRCm39)	V109A	probably benign	Het
Col4a1	T	C	8: 11,258,333 (GRCm39)		probably null	Het
Csmd1	C	T	8: 15,982,529 (GRCm39)	V2713M	possibly damaging	Het
Cuedc1	G	A	11: 88,074,231 (GRCm39)	R255Q	probably damaging	Het
Cxcl15	A	T	5: 90,945,897 (GRCm39)		probably benign	Het
Dach1	A	T	14: 98,138,765 (GRCm39)	H559Q	possibly damaging	Het
Dele1	T	C	18: 38,387,124 (GRCm39)		probably null	Het
Dennd4c	C	T	4: 86,744,259 (GRCm39)	T1367M	probably damaging	Het
Depdc5	T	A	5: 33,102,372 (GRCm39)	Y365*	probably null	Het
Dicer1	T	C	12: 104,669,100 (GRCm39)	Y1194C	possibly damaging	Het
Dmxl1	C	G	18: 50,024,534 (GRCm39)	S1736*	probably null	Het
Dnah7a	C	T	1: 53,536,285 (GRCm39)	R2586K	probably benign	Het
Dnajb8	T	C	6: 88,199,467 (GRCm39)	M1T	probably null	Het
Dync2h1	G	A	9: 7,122,692 (GRCm39)	P2088L	probably benign	Het
Eftud2	T	G	11: 102,735,048 (GRCm39)	H617P	probably damaging	Het
Ephb1	A	G	9: 101,873,179 (GRCm39)		probably benign	Het
Fam184a	G	T	10: 53,574,975 (GRCm39)	H155Q	probably benign	Het
Firrm	T	C	1: 163,799,412 (GRCm39)		probably null	Het
Ganc	G	T	2: 120,278,882 (GRCm39)	E700*	probably null	Het
Gm10912	A	G	2: 103,897,290 (GRCm39)		probably benign	Het
Haus5	A	T	7: 30,358,492 (GRCm39)	I294N	probably damaging	Het
Hmgcr	G	T	13: 96,796,651 (GRCm39)		probably null	Het
Hr	T	A	14: 70,799,352 (GRCm39)	C641*	probably null	Het
Itgb1bp1	T	G	12: 21,321,436 (GRCm39)	Y172S	probably damaging	Het
Kprp	T	C	3: 92,732,030 (GRCm39)	N340S	probably damaging	Het
Kremen1	A	G	11: 5,165,447 (GRCm39)	I41T	probably damaging	Het
Krt6b	A	G	15: 101,586,042 (GRCm39)		probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Ldhd	A	G	8: 112,356,309 (GRCm39)	Y86H	probably benign	Het
Lilra6	A	T	7: 3,915,784 (GRCm39)	I76N	possibly damaging	Het
Mak	T	C	13: 41,199,743 (GRCm39)	T299A	probably benign	Het
Med25	A	G	7: 44,534,502 (GRCm39)		probably null	Het
Mpg	A	T	11: 32,180,039 (GRCm39)	N189I	probably damaging	Het
Mroh8	A	G	2: 157,071,838 (GRCm39)	Y556H	probably damaging	Het
Myh8	T	A	11: 67,175,333 (GRCm39)	S294T	probably benign	Het
Myom1	T	A	17: 71,391,312 (GRCm39)	D842E	probably benign	Het
Myorg	A	G	4: 41,498,538 (GRCm39)	F364S	probably damaging	Het
Nat2	C	T	8: 67,953,982 (GRCm39)	Q31*	probably null	Het
Nf1	T	A	11: 79,329,595 (GRCm39)	M653K	probably benign	Het
Nhs	C	A	X: 160,620,355 (GRCm39)	R1467I	probably damaging	Het
Npr2	A	G	4: 43,632,801 (GRCm39)	E206G	probably benign	Het
Nsd3	G	A	8: 26,168,732 (GRCm39)	G629D	possibly damaging	Het
Nwd1	G	A	8: 73,408,633 (GRCm39)	C831Y	probably damaging	Het
Or52r1c	T	C	7: 102,735,058 (GRCm39)	I111T	probably damaging	Het
Or5t9	A	G	2: 86,659,950 (GRCm39)	I285V	probably benign	Het
P2ry14	A	G	3: 59,023,449 (GRCm39)	S4P	possibly damaging	Het
Parp4	A	G	14: 56,873,172 (GRCm39)		probably benign	Het
Pate14	A	T	9: 36,549,873 (GRCm39)		probably null	Het
Pclo	A	G	5: 14,728,299 (GRCm39)		probably benign	Het
Pclo	T	C	5: 14,729,412 (GRCm39)		probably benign	Het
Pcnt	A	T	10: 76,240,429 (GRCm39)	S1202T	possibly damaging	Het
Pfkfb4	A	G	9: 108,856,825 (GRCm39)	Y412C	probably damaging	Het
Pgm2	T	A	5: 64,267,898 (GRCm39)	V449D	probably damaging	Het
Poldip3	T	A	15: 83,022,436 (GRCm39)	D116V	probably damaging	Het
Pom121	G	T	5: 135,410,686 (GRCm39)	Q824K	unknown	Het
Prkdc	G	T	16: 15,649,146 (GRCm39)	G3707*	probably null	Het
Prr14l	T	C	5: 33,001,560 (GRCm39)		probably benign	Het
Ptbp2	T	G	3: 119,514,613 (GRCm39)	I405L	probably benign	Het
Rad21l	A	T	2: 151,490,989 (GRCm39)		probably benign	Het
Rbm6	G	A	9: 107,724,488 (GRCm39)	Q488*	probably null	Het
Rdh1	T	A	10: 127,600,652 (GRCm39)	M225K	probably benign	Het
Recql5	T	C	11: 115,819,209 (GRCm39)	D119G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Robo1	T	C	16: 72,810,013 (GRCm39)		probably null	Het
Samd12	G	A	15: 53,723,567 (GRCm39)	T42I	probably benign	Het
Scn10a	A	T	9: 119,442,766 (GRCm39)	M1494K	probably damaging	Het
Sec31a	G	A	5: 100,523,099 (GRCm39)	P864L	probably benign	Het
Senp2	T	C	16: 21,855,320 (GRCm39)	V344A	probably benign	Het
Serpina5	G	A	12: 104,069,621 (GRCm39)	D278N	probably benign	Het
Sh3tc1	A	T	5: 35,860,806 (GRCm39)	V1017D	probably damaging	Het
Sin3a	T	A	9: 57,004,179 (GRCm39)	Y310*	probably null	Het
Slc25a32	T	C	15: 38,960,940 (GRCm39)	T248A	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc4a10	G	A	2: 62,117,206 (GRCm39)	V722M	probably damaging	Het
Slco1a4	A	G	6: 141,776,586 (GRCm39)		probably benign	Het
Smg6	T	A	11: 74,819,884 (GRCm39)	Y52N	probably damaging	Het
Sncb	T	G	13: 54,913,400 (GRCm39)	T33P	probably damaging	Het
Spef2	A	G	15: 9,584,070 (GRCm39)		probably null	Het
Spmip1	G	T	6: 29,478,169 (GRCm39)		probably benign	Het
Sugp1	A	G	8: 70,512,013 (GRCm39)	E203G	probably damaging	Het
Suv39h2	A	T	2: 3,473,616 (GRCm39)	C105S	probably damaging	Het
Tlr1	A	T	5: 65,083,963 (GRCm39)	F205I	probably damaging	Het
Tnip1	A	T	11: 54,808,699 (GRCm39)	M496K	probably damaging	Het
Tnxb	G	A	17: 34,937,219 (GRCm39)	E2889K	probably damaging	Het
Trim30b	T	A	7: 104,015,010 (GRCm39)	H126L	possibly damaging	Het
Trpm7	A	T	2: 126,668,638 (GRCm39)	Y759*	probably null	Het
Ttc17	A	G	2: 94,153,465 (GRCm39)	I1000T	possibly damaging	Het
Ttc27	A	T	17: 75,025,710 (GRCm39)	N61I	probably benign	Het
Uba6	T	C	5: 86,260,609 (GRCm39)	Y990C	probably damaging	Het
Vav3	A	G	3: 109,571,756 (GRCm39)		probably benign	Het
Vmn2r55	C	T	7: 12,404,945 (GRCm39)	A153T	possibly damaging	Het
Wars2	A	G	3: 99,123,865 (GRCm39)	D242G	probably damaging	Het
Xylt2	G	A	11: 94,560,762 (GRCm39)	Q259*	probably null	Het
Zfp27	G	A	7: 29,593,947 (GRCm39)	P673S	probably damaging	Het
Zgrf1	T	C	3: 127,378,309 (GRCm39)	I1023T	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
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

Predicted Primers

PCR Primer
(F):5'- TTTCTCTAGGCAAGCTGCACGG -3'
(R):5'- TGAGTTTATGTGCCTCCAGAGCCC -3'

Sequencing Primer
(F):5'- TGCAGAACCTGACTGAGC -3'
(R):5'- CCCGGTTAGTGTTTCAGAGAGAAG -3'

Posted On

2013-06-11