Mutagenetix > Incidental Mutation

Incidental Mutation 'R3745:Tex11'

271190

Institutional Source

Beutler Lab

Gene Symbol

Tex11

Ensembl Gene

ENSMUSG00000009670

Gene Name

testis expressed gene 11

Synonyms

4930565P14Rik

MMRRC Submission

040731-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R3745 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

100838648-101059667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100916572 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 522 (V522A)

Ref Sequence

ENSEMBL: ENSMUSP00000109347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009814] [ENSMUST00000113716] [ENSMUST00000113718]

AlphaFold

Q14AT2

Predicted Effect

probably benign
Transcript: ENSMUST00000009814
AA Change: V522A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000009814
Gene: ENSMUSG00000009670
AA Change: V522A

Domain	Start	End	E-Value	Type
Pfam:SPO22	176	431	1.1e-62	PFAM
low complexity region	702	713	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113716
AA Change: V522A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109345
Gene: ENSMUSG00000009670
AA Change: V522A

Domain	Start	End	E-Value	Type
Pfam:SPO22	175	433	2.1e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113718
AA Change: V522A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109347
Gene: ENSMUSG00000009670
AA Change: V522A

Domain	Start	End	E-Value	Type
Pfam:SPO22	175	433	3.8e-70	PFAM
low complexity region	702	713	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (44/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is X-linked and is expressed in only male germ cells. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Miche homozygous for a knockout allele exhibit abnormal male meiosis. Mice homozygous for a conditional knockout exhibit male infertility and reduced female fecundity due to abnormal meiosis following cre recombination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154 (GRCm38)	C172*	probably null	Het
Acot9	G	A	X: 155,271,945 (GRCm38)		probably benign	Het
Akap10	A	G	11: 61,915,305 (GRCm38)	V199A	probably benign	Het
Aox4	C	T	1: 58,245,870 (GRCm38)	H594Y	probably damaging	Het
Arhgap35	A	T	7: 16,563,722 (GRCm38)	Y473N	probably damaging	Het
Aspn	G	A	13: 49,566,560 (GRCm38)	E351K	probably damaging	Het
Astn1	G	T	1: 158,502,060 (GRCm38)	A162S	probably damaging	Het
Atosa	T	C	9: 75,009,862 (GRCm38)	V581A	probably benign	Het
Auts2	A	G	5: 131,476,587 (GRCm38)		probably benign	Het
Cog6	A	T	3: 52,992,819 (GRCm38)	M507K	probably benign	Het
Crct1	C	A	3: 93,014,707 (GRCm38)		probably benign	Het
Cyp2d11	A	C	15: 82,391,855 (GRCm38)	I175S	probably benign	Het
Dclk1	A	G	3: 55,247,442 (GRCm38)	N98D	possibly damaging	Het
Erich5	T	A	15: 34,470,732 (GRCm38)	C36S	probably damaging	Het
F5	A	G	1: 164,186,779 (GRCm38)	I540V	possibly damaging	Het
Fam20a	A	T	11: 109,677,790 (GRCm38)	S303R	probably benign	Het
Fat3	G	A	9: 15,998,271 (GRCm38)	S2145F	probably damaging	Het
Gbp9	C	A	5: 105,105,858 (GRCm38)		probably benign	Het
Gm6408	G	T	5: 146,484,436 (GRCm38)	V292F	probably damaging	Het
Kmt2a	A	G	9: 44,831,340 (GRCm38)		probably benign	Het
Lrriq1	T	C	10: 103,170,856 (GRCm38)	D1136G	probably damaging	Het
Macrod2	C	A	2: 141,810,629 (GRCm38)	T204K	probably damaging	Het
Mlkl	A	G	8: 111,315,567 (GRCm38)		probably benign	Het
Msantd1	T	A	5: 34,923,467 (GRCm38)	V155E	possibly damaging	Het
Myo3b	A	G	2: 70,234,485 (GRCm38)		probably benign	Het
Nbn	T	A	4: 15,976,163 (GRCm38)	C375S	possibly damaging	Het
Nell2	A	C	15: 95,432,673 (GRCm38)	C231W	probably damaging	Het
Nipbl	A	G	15: 8,358,874 (GRCm38)	S421P	probably benign	Het
Npr3	A	T	15: 11,905,491 (GRCm38)	V50E	probably damaging	Het
Or4d10	A	G	19: 12,074,380 (GRCm38)	L84P	probably damaging	Het
Pclo	T	C	5: 14,678,421 (GRCm38)		probably benign	Het
Pkn3	A	G	2: 30,090,341 (GRCm38)	K785R	probably damaging	Het
Ppef2	T	A	5: 92,239,151 (GRCm38)		probably benign	Het
Prdm10	T	C	9: 31,340,407 (GRCm38)	I357T	possibly damaging	Het
Prrc2c	G	A	1: 162,698,185 (GRCm38)	T284I	unknown	Het
Psma3	T	C	12: 70,978,748 (GRCm38)	S13P	possibly damaging	Het
Ptch1	T	G	13: 63,524,959 (GRCm38)	E944A	probably benign	Het
Rpl6l	T	C	10: 111,126,365 (GRCm38)		noncoding transcript	Het
Thsd7b	A	G	1: 129,678,241 (GRCm38)	E573G	probably benign	Het
Tom1l1	A	G	11: 90,657,741 (GRCm38)	S259P	probably benign	Het
Trpm8	A	G	1: 88,348,327 (GRCm38)	E549G	probably benign	Het
Vmn1r66	C	T	7: 10,274,321 (GRCm38)	A262T	possibly damaging	Het
Zc3h13	T	A	14: 75,330,661 (GRCm38)	D1131E	probably benign	Het
Zfp445	A	C	9: 122,854,726 (GRCm38)	D289E	probably benign	Het

Other mutations in Tex11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Tex11	APN	X	101,032,559 (GRCm38)	missense	probably null	0.00
IGL00838:Tex11	APN	X	100,972,118 (GRCm38)	missense	possibly damaging	0.92
IGL02385:Tex11	APN	X	100,876,529 (GRCm38)	splice site	probably benign
R2958:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R2960:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R2963:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R3008:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R3009:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R3010:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R3011:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R3881:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R3882:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R4081:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R4082:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R4159:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R4172:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R4197:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R4201:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R4204:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R4206:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R4304:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R4305:Tex11	UTSW	X	100,933,415 (GRCm38)	missense	possibly damaging	0.70
R8726:Tex11	UTSW	X	101,015,585 (GRCm38)	missense	possibly damaging	0.82
R8727:Tex11	UTSW	X	101,015,585 (GRCm38)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- ACTCCATACCCTACCTTTTCAGAG -3'
(R):5'- TCCTTCTTGGTGGTTTATTAATTCAT -3'

Sequencing Primer
(F):5'- GGTCACCGAGATTGTACCAATTGC -3'
(R):5'- CTTTGATGAAAATGTCTCACAT -3'

Posted On

2015-03-18