Mutagenetix > Incidental Mutation

Incidental Mutation 'R2074:Tex10'

227408

Institutional Source

Beutler Lab

Gene Symbol

Tex10

Ensembl Gene

ENSMUSG00000028345

Gene Name

testis expressed gene 10

Synonyms

clone 18330, 2810462N03Rik, 2610206N19Rik

MMRRC Submission

040079-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R2074 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48430858-48473459 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48456800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 637 (R637Q)

Ref Sequence

ENSEMBL: ENSMUSP00000132498 (fasta)

Gene Model

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

AlphaFold

Q3URQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000030030
AA Change: R637Q

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000030030
Gene: ENSMUSG00000028345
AA Change: R637Q

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: ENSMUST00000138531

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 benign
Transcript: ENSMUST00000164866
AA Change: R637Q

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000132498
Gene: ENSMUSG00000028345
AA Change: R637Q

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	C	T	11: 105,867,449 (GRCm39)	Q484*	probably null	Het
Ackr3	T	C	1: 90,141,703 (GRCm39)	I54T	probably damaging	Het
Aco1	G	A	4: 40,183,605 (GRCm39)	G508S	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ankef1	T	C	2: 136,387,658 (GRCm39)	S192P	possibly damaging	Het
Ankrd16	T	G	2: 11,794,559 (GRCm39)	C315G	possibly damaging	Het
Ankzf1	T	C	1: 75,172,887 (GRCm39)	S328P	probably damaging	Het
Aqp2	A	G	15: 99,480,981 (GRCm39)	I176V	probably benign	Het
Arhgap45	A	G	10: 79,863,014 (GRCm39)	Y730C	probably damaging	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Asxl2	A	G	12: 3,543,779 (GRCm39)	E316G	probably damaging	Het
Btbd17	A	T	11: 114,682,778 (GRCm39)		probably null	Het
Calu	A	G	6: 29,372,614 (GRCm39)	Y263C	probably damaging	Het
Ccdc122	T	C	14: 77,306,391 (GRCm39)		probably null	Het
Cenpf	T	C	1: 189,389,098 (GRCm39)	K1578R	probably damaging	Het
Cep120	A	G	18: 53,852,384 (GRCm39)	V498A	possibly damaging	Het
Ces1a	T	A	8: 93,774,703 (GRCm39)	N12Y	probably benign	Het
Chmp1a	A	T	8: 123,934,761 (GRCm39)	M65K	probably damaging	Het
Cnot1	G	T	8: 96,466,461 (GRCm39)	T1592K	possibly damaging	Het
Cps1	T	A	1: 67,243,797 (GRCm39)	I1091N	probably benign	Het
Dhx32	T	C	7: 133,323,021 (GRCm39)	N731S	probably benign	Het
Dhx33	G	A	11: 70,890,669 (GRCm39)	R177W	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dnah10	T	C	5: 124,891,738 (GRCm39)	S3259P	probably damaging	Het
Dnah7a	T	C	1: 53,496,855 (GRCm39)	I3134V	probably benign	Het
Dock3	A	G	9: 106,870,662 (GRCm39)	F584S	possibly damaging	Het
Dtnb	A	G	12: 3,831,273 (GRCm39)	T658A	probably benign	Het
Duox2	T	A	2: 122,125,639 (GRCm39)	S323C	probably damaging	Het
Elovl3	A	T	19: 46,120,606 (GRCm39)	E33V	probably damaging	Het
Enpp5	T	C	17: 44,396,264 (GRCm39)	F392S	probably benign	Het
Eogt	T	C	6: 97,108,337 (GRCm39)	T235A	probably benign	Het
Etv3	T	C	3: 87,443,526 (GRCm39)	V370A	probably benign	Het
Ewsr1	C	T	11: 5,021,555 (GRCm39)	R466H	unknown	Het
Fcgbp	G	A	7: 27,819,814 (GRCm39)	G2514S	probably damaging	Het
Flt1	A	T	5: 147,536,416 (GRCm39)	D808E	possibly damaging	Het
Glg1	C	T	8: 111,895,303 (GRCm39)	G836E	probably damaging	Het
Gm17334	A	G	11: 53,663,654 (GRCm39)		probably benign	Het
Gpbp1	A	T	13: 111,589,941 (GRCm39)	D51E	probably benign	Het
Il12rb2	C	G	6: 67,337,536 (GRCm39)	C115S	probably damaging	Het
Il1rl1	T	C	1: 40,501,204 (GRCm39)	S527P	probably damaging	Het
Ireb2	A	G	9: 54,788,733 (GRCm39)	D69G	probably benign	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
M1ap	A	G	6: 82,958,863 (GRCm39)	I165V	probably benign	Het
Mff	T	A	1: 82,729,421 (GRCm39)	L287H	probably damaging	Het
Mmp27	A	G	9: 7,577,740 (GRCm39)	M311V	possibly damaging	Het
Mpped2	T	A	2: 106,575,147 (GRCm39)	Y77*	probably null	Het
Mybbp1a	G	A	11: 72,332,271 (GRCm39)	S21N	probably benign	Het
Obscn	G	C	11: 58,960,107 (GRCm39)	I3253M	probably damaging	Het
Obscn	T	C	11: 59,023,478 (GRCm39)	D633G	probably damaging	Het
Olr1	C	T	6: 129,479,057 (GRCm39)	V54I	probably benign	Het
Or10j3b	A	T	1: 173,043,377 (GRCm39)	D53V	probably damaging	Het
Or4a74	A	G	2: 89,439,822 (GRCm39)	V208A	probably benign	Het
Phlpp2	T	C	8: 110,655,124 (GRCm39)	S605P	possibly damaging	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 106,103,084 (GRCm39)		probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Prss8	C	A	7: 127,526,266 (GRCm39)	R148L	possibly damaging	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Rabgef1	C	A	5: 130,216,402 (GRCm39)	Q52K	probably benign	Het
Rnf6	C	T	5: 146,147,716 (GRCm39)	R434H	probably damaging	Het
Rpl26	A	G	11: 68,794,099 (GRCm39)	E88G	probably benign	Het
Rpn1	T	A	6: 88,077,944 (GRCm39)	L460Q	probably damaging	Het
Sap130	T	A	18: 31,781,332 (GRCm39)	I165N	probably damaging	Het
Sash1	A	G	10: 8,632,461 (GRCm39)	V258A	probably damaging	Het
Scarb1	G	T	5: 125,371,207 (GRCm39)	N288K	probably benign	Het
Sec16a	A	G	2: 26,330,251 (GRCm39)	I588T	probably damaging	Het
Shank2	C	A	7: 143,963,277 (GRCm39)	S295Y	probably damaging	Het
Slc15a3	T	C	19: 10,834,663 (GRCm39)	S515P	probably damaging	Het
Slc25a13	A	T	6: 6,114,017 (GRCm39)	M285K	probably benign	Het
Slc39a11	A	G	11: 113,354,800 (GRCm39)	I143T	probably null	Het
Smarcd2	A	T	11: 106,156,133 (GRCm39)	L42*	probably null	Het
Smc3	A	G	19: 53,619,964 (GRCm39)	D620G	probably benign	Het
Spata31g1	A	T	4: 42,974,171 (GRCm39)	D1168V	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar4	A	C	10: 23,837,071 (GRCm39)	Q227P	probably benign	Het
Tasor	T	A	14: 27,183,170 (GRCm39)	I543K	probably benign	Het
Tecta	G	T	9: 42,248,575 (GRCm39)	Y1937*	probably null	Het
Tmem130	T	A	5: 144,692,084 (GRCm39)	T107S	possibly damaging	Het
Tmem132d	T	C	5: 128,346,195 (GRCm39)	D109G	probably damaging	Het
Tmem81	A	G	1: 132,435,644 (GRCm39)	Y150C	probably damaging	Het
Tnrc18	C	T	5: 142,745,461 (GRCm39)		probably null	Het
Trim43a	A	G	9: 88,468,147 (GRCm39)	K256R	possibly damaging	Het
Trpm6	A	G	19: 18,855,103 (GRCm39)	T1921A	probably damaging	Het
Tubb3	C	T	8: 124,148,009 (GRCm39)	A314V	probably damaging	Het
Ube3b	A	C	5: 114,553,316 (GRCm39)	N896T	probably benign	Het
Unc80	G	A	1: 66,718,903 (GRCm39)		probably null	Het
Upb1	A	G	10: 75,260,347 (GRCm39)	T134A	probably damaging	Het
Vmn2r15	A	T	5: 109,434,619 (GRCm39)	M695K	possibly damaging	Het
Wwc1	G	T	11: 35,780,180 (GRCm39)	D258E	possibly damaging	Het
Zfp619	T	A	7: 39,184,185 (GRCm39)	Y72N	probably benign	Het
Zfp672	G	T	11: 58,207,462 (GRCm39)	H286Q	possibly damaging	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
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
R4133:Tex10	UTSW	4	48,468,968 (GRCm39)	missense	probably damaging	1.00
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'- GTATTAGCAAAGTTCTAACAGCCAC -3'
(R):5'- CATTGGAAGTCATCAAGCTGC -3'

Sequencing Primer
(F):5'- TCCTAGCATTCTTAAGGCAGAGGC -3'
(R):5'- CATTTTCCTACCCCACTAGA -3'

Posted On

2014-09-17