Mutagenetix > Incidental Mutation

Incidental Mutation 'R0919:Itga10'

81575

Institutional Source

Beutler Lab

Gene Symbol

Itga10

Ensembl Gene

ENSMUSG00000090210

Gene Name

integrin, alpha 10

Synonyms

MMRRC Submission

039069-MU

Accession Numbers

Essential gene?

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

Stock #

R0919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96552900-96571835 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 96559054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121011 (fasta)

Gene Model

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

AlphaFold

E9Q6R1

Predicted Effect

probably benign
Transcript: ENSMUST00000029744

SMART Domains

Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210

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: ENSMUST00000119365

SMART Domains

Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.6%

Validation Efficiency

96% (43/45)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	C	A	18: 65,440,544 (GRCm39)	C283F	probably benign	Het
Anapc1	T	C	2: 128,459,651 (GRCm39)	R1803G	probably benign	Het
Anapc4	T	C	5: 53,012,979 (GRCm39)	V423A	probably benign	Het
Arfgef3	A	G	10: 18,465,483 (GRCm39)	I2120T	possibly damaging	Het
Btaf1	T	A	19: 36,968,143 (GRCm39)	H1109Q	probably benign	Het
Cfap418	A	G	4: 10,882,462 (GRCm39)	T124A	probably benign	Het
Cfap70	G	A	14: 20,454,232 (GRCm39)	P851S	probably benign	Het
Clcf1	T	A	19: 4,272,252 (GRCm39)	L103Q	probably damaging	Het
Col11a2	T	A	17: 34,278,124 (GRCm39)	V1032E	possibly damaging	Het
Cyp2c38	T	G	19: 39,393,113 (GRCm39)	D318A	probably benign	Het
Dbpht2	A	G	12: 74,345,774 (GRCm39)		noncoding transcript	Het
Dhx34	A	C	7: 15,935,883 (GRCm39)	V893G	probably damaging	Het
Fsip2	T	A	2: 82,815,828 (GRCm39)	C3854S	possibly damaging	Het
Htr1a	T	C	13: 105,581,344 (GRCm39)	Y195H	probably damaging	Het
Insr	A	G	8: 3,208,769 (GRCm39)	S1231P	probably damaging	Het
Kpna4	A	T	3: 68,993,161 (GRCm39)		probably benign	Het
Or52d13	A	G	7: 103,110,019 (GRCm39)	I132T	probably damaging	Het
Or52e8	A	T	7: 104,624,519 (GRCm39)	Y228*	probably null	Het
Or5m3	A	G	2: 85,838,984 (GRCm39)	Y288C	possibly damaging	Het
Osbpl7	G	A	11: 96,946,927 (GRCm39)	R239H	possibly damaging	Het
Prkce	G	A	17: 86,937,588 (GRCm39)	V674I	probably benign	Het
Prkrip1	T	C	5: 136,226,685 (GRCm39)	M52V	possibly damaging	Het
Sash1	A	G	10: 8,605,843 (GRCm39)	M849T	probably benign	Het
Scaf8	T	C	17: 3,247,395 (GRCm39)	L906S	probably damaging	Het
Sfmbt2	T	C	2: 10,582,382 (GRCm39)	L676P	probably benign	Het
Sgsm1	C	T	5: 113,406,708 (GRCm39)	V923I	probably damaging	Het
Slc38a3	A	T	9: 107,533,158 (GRCm39)	L305Q	probably damaging	Het
Slc44a5	A	G	3: 153,949,223 (GRCm39)	Y232C	probably damaging	Het
Spag17	A	T	3: 99,979,259 (GRCm39)		probably benign	Het
Synm	T	C	7: 67,385,095 (GRCm39)	I414V	probably damaging	Het
Tbc1d12	C	T	19: 38,902,493 (GRCm39)	H551Y	possibly damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Trpc7	C	T	13: 56,970,462 (GRCm39)		probably benign	Het
Trpm7	G	A	2: 126,673,158 (GRCm39)	R532C	probably damaging	Het
Ttn	T	A	2: 76,777,086 (GRCm39)	K1485*	probably null	Het
Txn2	T	C	15: 77,811,949 (GRCm39)	D69G	probably damaging	Het
U2af2	C	T	7: 5,072,433 (GRCm39)		probably benign	Het
Ubn1	T	C	16: 4,882,255 (GRCm39)	Y239H	probably damaging	Het
Ubtf	A	G	11: 102,200,603 (GRCm39)		probably benign	Het
Usp49	T	A	17: 47,983,376 (GRCm39)	V127D	probably benign	Het
Washc2	C	T	6: 116,185,225 (GRCm39)	R20W	probably damaging	Het
Zscan10	T	C	17: 23,828,981 (GRCm39)	S476P	probably 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
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'- TTGGATAGACCCTGACCCTCTCAAC -3'
(R):5'- GGTTTCCTGAAGGCATAAGGCGAG -3'

Sequencing Primer
(F):5'- ATAAGCCCCCTACTTCTAATTCAG -3'
(R):5'- CTAAGGGGGAGTGCCTCATAC -3'

Posted On

2013-11-07