Mutagenetix > Incidental Mutation

Incidental Mutation 'R4133:Tex10'

314735

Institutional Source

Beutler Lab

Gene Symbol

Tex10

Ensembl Gene

ENSMUSG00000028345

Gene Name

testis expressed gene 10

Synonyms

clone 18330, 2810462N03Rik, 2610206N19Rik

MMRRC Submission

041637-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R4133 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48430858-48473459 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48468968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 69 (Y69C)

Ref Sequence

ENSEMBL: ENSMUSP00000132498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030030] [ENSMUST00000155905] [ENSMUST00000164866]

AlphaFold

Q3URQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000030030
AA Change: Y69C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030030
Gene: ENSMUSG00000028345
AA Change: Y69C

Domain	Start	End	E-Value	Type
low complexity region	13	25	N/A	INTRINSIC
Pfam:Ipi1_N	130	235	9.7e-24	PFAM
low complexity region	832	846	N/A	INTRINSIC
low complexity region	856	873	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155750

Predicted Effect

probably benign
Transcript: ENSMUST00000155905

SMART Domains

Protein: ENSMUSP00000114669
Gene: ENSMUSG00000028345

Domain	Start	End	E-Value	Type
Pfam:Ipi1_N	47	152	3.4e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164866
AA Change: Y69C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132498
Gene: ENSMUSG00000028345
AA Change: Y69C

Domain	Start	End	E-Value	Type
low complexity region	13	25	N/A	INTRINSIC
Pfam:Ipi1_N	132	235	4.1e-25	PFAM
low complexity region	832	846	N/A	INTRINSIC
low complexity region	856	873	N/A	INTRINSIC

Meta Mutation Damage Score

0.2832

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (77/79)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E7.5 with impaired inner cell mass proliferation in culture. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	T	A	9: 60,677,280 (GRCm39)		noncoding transcript	Het
Aldh3b1	A	G	19: 3,970,808 (GRCm39)	I184T	probably damaging	Het
Arhgap42	C	T	9: 9,011,300 (GRCm39)		probably benign	Het
Arhgef4	A	G	1: 34,845,185 (GRCm39)	D1463G	probably damaging	Het
Arpc5	A	G	1: 152,644,622 (GRCm39)	T52A	probably benign	Het
Asb6	A	G	2: 30,718,247 (GRCm39)		probably benign	Het
Ash1l	T	C	3: 88,889,567 (GRCm39)	V482A	probably benign	Het
Bop1	T	C	15: 76,338,535 (GRCm39)	N469S	probably benign	Het
Btaf1	T	A	19: 36,939,138 (GRCm39)	N266K	probably benign	Het
Btla	T	C	16: 45,059,661 (GRCm39)	Y122H	probably damaging	Het
Cacna1g	A	G	11: 94,323,370 (GRCm39)	M1278T	probably damaging	Het
Cdc42bpb	A	G	12: 111,287,976 (GRCm39)	S524P	probably benign	Het
Cep78	A	G	19: 15,946,519 (GRCm39)	S438P	probably damaging	Het
Clca4a	T	G	3: 144,675,113 (GRCm39)	E171D	probably benign	Het
Cldn6	A	T	17: 23,900,467 (GRCm39)	I144F	probably damaging	Het
Cpd	G	A	11: 76,705,644 (GRCm39)	Q363*	probably null	Het
Cpn1	G	A	19: 43,974,723 (GRCm39)	P2L	possibly damaging	Het
Ddx31	A	G	2: 28,748,864 (GRCm39)	D264G	probably damaging	Het
Ddx39b	C	T	17: 35,472,065 (GRCm39)	S368L	probably damaging	Het
Ddx60	A	G	8: 62,425,254 (GRCm39)	K681E	probably damaging	Het
Dennd1c	A	C	17: 57,383,980 (GRCm39)	W15G	possibly damaging	Het
Dgkd	T	G	1: 87,869,223 (GRCm39)		probably null	Het
Dnah7c	G	T	1: 46,705,150 (GRCm39)	A2388S	probably benign	Het
Etv4	C	A	11: 101,661,324 (GRCm39)	K442N	probably damaging	Het
Fam234a	T	C	17: 26,432,532 (GRCm39)	D539G	probably damaging	Het
Fancm	A	G	12: 65,167,304 (GRCm39)	T1538A	probably benign	Het
Fbn2	A	T	18: 58,229,034 (GRCm39)	N725K	possibly damaging	Het
Fcer2a	T	A	8: 3,741,130 (GRCm39)	N4I	possibly damaging	Het
Fgd5	T	C	6: 92,046,418 (GRCm39)	V1229A	probably damaging	Het
Garin4	A	T	1: 190,895,205 (GRCm39)	N479K	probably benign	Het
Gm5471	A	T	15: 44,835,297 (GRCm39)		noncoding transcript	Het
Gm5478	T	A	15: 101,553,080 (GRCm39)	I331F	probably damaging	Het
Gm6729	C	A	10: 86,377,030 (GRCm39)		noncoding transcript	Het
Hectd4	G	T	5: 121,415,897 (GRCm39)		probably null	Het
Hspb3	A	C	13: 113,800,027 (GRCm39)	M1R	probably null	Het
Igkv10-95	T	C	6: 68,657,601 (GRCm39)	V19A	probably damaging	Het
Il1rap	A	G	16: 26,541,636 (GRCm39)	S626G	probably benign	Het
Ints9	A	G	14: 65,228,003 (GRCm39)	H103R	probably benign	Het
Itga4	T	A	2: 79,152,996 (GRCm39)	D894E	probably damaging	Het
Khsrp	T	C	17: 57,332,605 (GRCm39)	H225R	probably benign	Het
Lama1	T	C	17: 68,057,650 (GRCm39)	Y575H	probably damaging	Het
Lama1	A	T	17: 68,119,481 (GRCm39)	I2653F	probably damaging	Het
Map4k5	A	T	12: 69,892,497 (GRCm39)	L144Q	probably damaging	Het
Mcm5	A	G	8: 75,842,482 (GRCm39)	Y252C	probably damaging	Het
Mmgt2	A	G	11: 62,555,877 (GRCm39)	E75G	probably damaging	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Nckap5	A	G	1: 126,150,443 (GRCm39)	V162A	probably benign	Het
Nr3c2	T	C	8: 77,636,378 (GRCm39)	I493T	probably damaging	Het
Or2ag16	A	C	7: 106,352,286 (GRCm39)	L103R	probably damaging	Het
Or2t46	A	T	11: 58,471,901 (GRCm39)	Y77F	probably damaging	Het
Or9s15	T	C	1: 92,524,465 (GRCm39)	F75L	probably benign	Het
Papola	A	G	12: 105,765,917 (GRCm39)	T6A	possibly damaging	Het
Ppp1cc	G	A	5: 122,306,289 (GRCm39)	R36Q	probably benign	Het
Ptpro	G	T	6: 137,397,370 (GRCm39)	W81C	probably damaging	Het
Rasgrf2	A	G	13: 92,130,773 (GRCm39)	S162P	possibly damaging	Het
Rpusd2	T	C	2: 118,869,196 (GRCm39)	S540P	probably damaging	Het
Scn5a	T	A	9: 119,315,438 (GRCm39)	T1757S	probably damaging	Het
Setbp1	T	C	18: 78,900,206 (GRCm39)	I1154V	probably benign	Het
Sirt1	T	C	10: 63,171,438 (GRCm39)	I209V	probably null	Het
Slco6c1	T	A	1: 97,009,218 (GRCm39)	I406L	probably benign	Het
Smc2	A	G	4: 52,450,947 (GRCm39)	E255G	probably damaging	Het
Snap91	C	A	9: 86,659,102 (GRCm39)	G477V	probably damaging	Het
Speg	A	G	1: 75,404,548 (GRCm39)	Q2780R	probably benign	Het
Spmap2	T	C	10: 79,415,884 (GRCm39)	T236A	probably damaging	Het
Ssh2	A	G	11: 77,312,095 (GRCm39)	Y196C	probably damaging	Het
Ssxb9	A	T	X: 8,235,845 (GRCm39)	T18S	probably damaging	Het
Stxbp5l	T	C	16: 37,028,481 (GRCm39)	I527M	possibly damaging	Het
Thoc3	T	C	13: 54,616,361 (GRCm39)	D87G	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trps1	T	C	15: 50,694,783 (GRCm39)	K213R	probably damaging	Het
Uggt1	A	T	1: 36,197,240 (GRCm39)	L1221Q	probably damaging	Het
Vmn2r3	T	A	3: 64,183,138 (GRCm39)	Y187F	probably damaging	Het
Washc2	G	A	6: 116,235,891 (GRCm39)	E1121K	probably damaging	Het
Zfx	T	C	X: 93,124,464 (GRCm39)	N360D	probably damaging	Het
Znhit3	A	G	11: 84,807,139 (GRCm39)	V10A	probably benign	Het

Other mutations in Tex10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00574:Tex10	APN	4	48,469,937 (GRCm39)	nonsense	probably null
IGL00832:Tex10	APN	4	48,468,864 (GRCm39)	missense	probably benign
IGL01376:Tex10	APN	4	48,456,740 (GRCm39)	missense	possibly damaging	0.90
IGL01594:Tex10	APN	4	48,469,906 (GRCm39)	missense	possibly damaging	0.47
IGL02754:Tex10	APN	4	48,435,028 (GRCm39)	missense	possibly damaging	0.46
IGL03071:Tex10	APN	4	48,452,946 (GRCm39)	missense	probably benign	0.00
IGL03399:Tex10	APN	4	48,459,915 (GRCm39)	missense	probably benign	0.04
R0105:Tex10	UTSW	4	48,468,957 (GRCm39)	missense	probably damaging	0.99
R0105:Tex10	UTSW	4	48,468,957 (GRCm39)	missense	probably damaging	0.99
R0544:Tex10	UTSW	4	48,462,766 (GRCm39)	splice site	probably null
R0583:Tex10	UTSW	4	48,451,952 (GRCm39)	missense	probably damaging	1.00
R0591:Tex10	UTSW	4	48,456,800 (GRCm39)	missense	probably benign	0.04
R0592:Tex10	UTSW	4	48,456,800 (GRCm39)	missense	probably benign	0.04
R0593:Tex10	UTSW	4	48,456,800 (GRCm39)	missense	probably benign	0.04
R0893:Tex10	UTSW	4	48,456,800 (GRCm39)	missense	probably benign	0.04
R1485:Tex10	UTSW	4	48,436,492 (GRCm39)	missense	possibly damaging	0.54
R1703:Tex10	UTSW	4	48,456,800 (GRCm39)	missense	probably benign	0.04
R1704:Tex10	UTSW	4	48,456,800 (GRCm39)	missense	probably benign	0.04
R1706:Tex10	UTSW	4	48,456,800 (GRCm39)	missense	probably benign	0.04
R1911:Tex10	UTSW	4	48,456,800 (GRCm39)	missense	probably benign	0.04
R1912:Tex10	UTSW	4	48,456,800 (GRCm39)	missense	probably benign	0.04
R1930:Tex10	UTSW	4	48,456,800 (GRCm39)	missense	probably benign	0.04
R1983:Tex10	UTSW	4	48,460,059 (GRCm39)	missense	possibly damaging	0.93
R2001:Tex10	UTSW	4	48,451,940 (GRCm39)	missense	probably damaging	1.00
R2074:Tex10	UTSW	4	48,456,800 (GRCm39)	missense	probably benign	0.04
R2075:Tex10	UTSW	4	48,456,800 (GRCm39)	missense	probably benign	0.04
R2157:Tex10	UTSW	4	48,436,522 (GRCm39)	splice site	probably benign
R3000:Tex10	UTSW	4	48,459,393 (GRCm39)	splice site	probably null
R4067:Tex10	UTSW	4	48,459,355 (GRCm39)	nonsense	probably null
R4081:Tex10	UTSW	4	48,468,873 (GRCm39)	missense	probably benign	0.11
R4352:Tex10	UTSW	4	48,452,039 (GRCm39)	missense	possibly damaging	0.77
R4364:Tex10	UTSW	4	48,468,774 (GRCm39)	missense	probably benign	0.13
R4601:Tex10	UTSW	4	48,452,946 (GRCm39)	missense	probably benign	0.00
R4602:Tex10	UTSW	4	48,452,946 (GRCm39)	missense	probably benign	0.00
R4610:Tex10	UTSW	4	48,452,946 (GRCm39)	missense	probably benign	0.00
R4707:Tex10	UTSW	4	48,468,984 (GRCm39)	missense	probably benign	0.00
R4744:Tex10	UTSW	4	48,469,990 (GRCm39)	missense	probably benign	0.00
R4778:Tex10	UTSW	4	48,436,468 (GRCm39)	missense	probably damaging	1.00
R4989:Tex10	UTSW	4	48,458,525 (GRCm39)	splice site	probably benign
R5051:Tex10	UTSW	4	48,460,019 (GRCm39)	missense	possibly damaging	0.86
R5120:Tex10	UTSW	4	48,459,272 (GRCm39)	missense	possibly damaging	0.68
R5732:Tex10	UTSW	4	48,460,046 (GRCm39)	missense	probably damaging	1.00
R5799:Tex10	UTSW	4	48,433,295 (GRCm39)	missense	possibly damaging	0.62
R5813:Tex10	UTSW	4	48,452,928 (GRCm39)	missense	probably benign	0.00
R6091:Tex10	UTSW	4	48,459,891 (GRCm39)	missense	probably damaging	0.98
R6223:Tex10	UTSW	4	48,468,525 (GRCm39)	missense	probably damaging	0.98
R6493:Tex10	UTSW	4	48,436,450 (GRCm39)	missense	probably damaging	1.00
R7567:Tex10	UTSW	4	48,468,787 (GRCm39)	missense	possibly damaging	0.93
R7590:Tex10	UTSW	4	48,467,725 (GRCm39)	missense	probably damaging	0.99
R7808:Tex10	UTSW	4	48,459,984 (GRCm39)	missense	probably benign
R8004:Tex10	UTSW	4	48,452,047 (GRCm39)	missense	possibly damaging	0.64
R8084:Tex10	UTSW	4	48,431,066 (GRCm39)	missense	probably benign	0.05
R9030:Tex10	UTSW	4	48,452,056 (GRCm39)	missense	probably damaging	1.00
X0017:Tex10	UTSW	4	48,460,080 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGATGGGCACTTACCAAAGG -3'
(R):5'- AGTGTTCCGAAACCTGTATGTAG -3'

Sequencing Primer
(F):5'- TATTTTGGGGGCCAGGAATTGAAG -3'
(R):5'- CTTGAACAAGGACTTCAGCT -3'

Posted On

2015-05-14