Mutagenetix > Incidental Mutation

Incidental Mutation 'R3156:Tex2'

263507

Institutional Source

Beutler Lab

Gene Symbol

Tex2

Ensembl Gene

ENSMUSG00000040548

Gene Name

testis expressed gene 2

Synonyms

4930568E07Rik, Taz4, Def-5

MMRRC Submission

040607-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3156 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106392973-106504249 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 106424695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042780]

AlphaFold

Q6ZPJ0

Predicted Effect

probably null
Transcript: ENSMUST00000042780

SMART Domains

Protein: ENSMUSP00000041985
Gene: ENSMUSG00000040548

Domain	Start	End	E-Value	Type
low complexity region	119	186	N/A	INTRINSIC
low complexity region	319	341	N/A	INTRINSIC
low complexity region	346	360	N/A	INTRINSIC
transmembrane domain	473	492	N/A	INTRINSIC
transmembrane domain	494	516	N/A	INTRINSIC
PH	543	712	5.05e-1	SMART
low complexity region	732	752	N/A	INTRINSIC
low complexity region	811	823	N/A	INTRINSIC
low complexity region	946	965	N/A	INTRINSIC
low complexity region	1003	1016	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000207249

Meta Mutation Damage Score

0.9499

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (39/40)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	C	1: 85,859,104 (GRCm39)		probably benign	Het
Adra2b	T	C	2: 127,205,570 (GRCm39)	L29P	probably damaging	Het
Anxa9	A	T	3: 95,209,716 (GRCm39)	D134E	probably benign	Het
Atad1	A	T	19: 32,684,355 (GRCm39)	N14K	probably benign	Het
Cbl	T	C	9: 44,070,147 (GRCm39)	I533M	possibly damaging	Het
Cdca2	T	C	14: 67,935,612 (GRCm39)	N368D	possibly damaging	Het
Cfap45	A	T	1: 172,373,291 (GRCm39)	N543Y	possibly damaging	Het
Col4a2	T	A	8: 11,363,414 (GRCm39)		probably benign	Het
Dis3l	T	C	9: 64,219,032 (GRCm39)	T633A	probably benign	Het
Dnah5	G	A	15: 28,438,237 (GRCm39)		probably benign	Het
Fut2	A	T	7: 45,300,091 (GRCm39)	L227Q	probably damaging	Het
Gcnt2	T	C	13: 41,014,654 (GRCm39)	V275A	probably benign	Het
Glrp1	C	A	1: 88,430,976 (GRCm39)	Q131H	unknown	Het
Gm6871	T	C	7: 41,223,079 (GRCm39)	N3S	probably benign	Het
Hmgcs1	C	T	13: 120,166,614 (GRCm39)	T402I	probably benign	Het
Hps6	A	G	19: 45,992,180 (GRCm39)	D39G	probably damaging	Het
Mab21l4	T	A	1: 93,087,764 (GRCm39)	I30F	possibly damaging	Het
Mycbp2	A	T	14: 103,446,179 (GRCm39)		probably benign	Het
Myh6	A	G	14: 55,182,125 (GRCm39)	I1761T	probably damaging	Het
Neo1	T	C	9: 58,796,262 (GRCm39)		probably null	Het
Or4k15c	T	C	14: 50,321,982 (GRCm39)	D52G	probably benign	Het
Or7g27	A	G	9: 19,250,720 (GRCm39)		probably null	Het
Patj	A	G	4: 98,562,465 (GRCm39)	E1478G	probably damaging	Het
Paxbp1	T	C	16: 90,832,878 (GRCm39)	T304A	probably benign	Het
Rbp3	A	T	14: 33,679,071 (GRCm39)	K1006N	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ror2	G	T	13: 53,271,400 (GRCm39)	N306K	probably damaging	Het
Rusc1	T	C	3: 88,999,038 (GRCm39)	D248G	probably benign	Het
Secisbp2	A	G	13: 51,816,711 (GRCm39)	T288A	probably benign	Het
Setbp1	A	G	18: 78,902,518 (GRCm39)	V383A	probably benign	Het
Sez6	T	A	11: 77,844,605 (GRCm39)	S143T	possibly damaging	Het
Slc5a9	A	T	4: 111,747,421 (GRCm39)	I322N	possibly damaging	Het
Szt2	A	G	4: 118,260,016 (GRCm39)		probably null	Het
Tonsl	A	T	15: 76,523,721 (GRCm39)	L64Q	probably damaging	Het
Triml2	A	G	8: 43,640,716 (GRCm39)	N191D	probably benign	Het
Trpc1	C	T	9: 95,603,185 (GRCm39)		probably null	Het
Yeats4	C	T	10: 117,058,186 (GRCm39)	V22I	probably benign	Het

Other mutations in Tex2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Tex2	APN	11	106,459,361 (GRCm39)	missense	probably damaging	1.00
IGL01380:Tex2	APN	11	106,435,141 (GRCm39)	nonsense	probably null
IGL02607:Tex2	APN	11	106,437,573 (GRCm39)	missense	unknown
IGL02680:Tex2	APN	11	106,459,058 (GRCm39)	unclassified	probably benign
IGL02699:Tex2	APN	11	106,459,259 (GRCm39)	missense	possibly damaging	0.53
IGL03187:Tex2	APN	11	106,458,903 (GRCm39)	unclassified	probably benign
IGL03398:Tex2	APN	11	106,459,098 (GRCm39)	missense	probably damaging	1.00
R0242:Tex2	UTSW	11	106,410,781 (GRCm39)	nonsense	probably null
R0242:Tex2	UTSW	11	106,410,781 (GRCm39)	nonsense	probably null
R1085:Tex2	UTSW	11	106,459,313 (GRCm39)	missense	probably damaging	0.98
R1491:Tex2	UTSW	11	106,394,466 (GRCm39)	missense	possibly damaging	0.72
R1664:Tex2	UTSW	11	106,458,608 (GRCm39)	unclassified	probably benign
R1794:Tex2	UTSW	11	106,458,728 (GRCm39)	unclassified	probably benign
R1855:Tex2	UTSW	11	106,437,702 (GRCm39)	missense	possibly damaging	0.87
R2077:Tex2	UTSW	11	106,397,690 (GRCm39)	splice site	probably null
R2151:Tex2	UTSW	11	106,458,161 (GRCm39)	unclassified	probably benign
R2175:Tex2	UTSW	11	106,394,513 (GRCm39)	missense	unknown
R2984:Tex2	UTSW	11	106,437,489 (GRCm39)	critical splice donor site	probably null
R3722:Tex2	UTSW	11	106,437,566 (GRCm39)	nonsense	probably null
R3724:Tex2	UTSW	11	106,420,156 (GRCm39)	missense	unknown
R3770:Tex2	UTSW	11	106,435,078 (GRCm39)	missense	unknown
R3771:Tex2	UTSW	11	106,437,720 (GRCm39)	missense	unknown
R3813:Tex2	UTSW	11	106,402,770 (GRCm39)	missense	unknown
R3947:Tex2	UTSW	11	106,410,829 (GRCm39)	missense	unknown
R4206:Tex2	UTSW	11	106,458,398 (GRCm39)	unclassified	probably benign
R4342:Tex2	UTSW	11	106,457,832 (GRCm39)	unclassified	probably benign
R4554:Tex2	UTSW	11	106,435,212 (GRCm39)	missense	unknown
R4896:Tex2	UTSW	11	106,459,230 (GRCm39)	missense	probably damaging	1.00
R5207:Tex2	UTSW	11	106,437,666 (GRCm39)	missense	unknown
R5249:Tex2	UTSW	11	106,437,615 (GRCm39)	missense	unknown
R5257:Tex2	UTSW	11	106,458,585 (GRCm39)	unclassified	probably benign
R5258:Tex2	UTSW	11	106,458,585 (GRCm39)	unclassified	probably benign
R5278:Tex2	UTSW	11	106,458,639 (GRCm39)	missense	probably benign	0.34
R5702:Tex2	UTSW	11	106,435,221 (GRCm39)	missense	possibly damaging	0.58
R5835:Tex2	UTSW	11	106,410,739 (GRCm39)	missense	unknown
R6150:Tex2	UTSW	11	106,457,906 (GRCm39)	missense	probably benign	0.34
R6785:Tex2	UTSW	11	106,424,776 (GRCm39)	missense	probably damaging	1.00
R6879:Tex2	UTSW	11	106,424,836 (GRCm39)	missense	unknown
R7038:Tex2	UTSW	11	106,402,726 (GRCm39)	critical splice donor site	probably null
R7117:Tex2	UTSW	11	106,435,071 (GRCm39)	missense	unknown
R7336:Tex2	UTSW	11	106,439,685 (GRCm39)	missense	unknown
R7568:Tex2	UTSW	11	106,439,562 (GRCm39)	missense	unknown
R7622:Tex2	UTSW	11	106,437,721 (GRCm39)	missense	unknown
R8228:Tex2	UTSW	11	106,457,997 (GRCm39)	missense	probably benign	0.34
R8407:Tex2	UTSW	11	106,459,221 (GRCm39)	missense	probably damaging	1.00
R8807:Tex2	UTSW	11	106,458,414 (GRCm39)	missense	unknown
R8807:Tex2	UTSW	11	106,435,194 (GRCm39)	missense	unknown
R8882:Tex2	UTSW	11	106,435,062 (GRCm39)	missense	unknown
R8926:Tex2	UTSW	11	106,459,230 (GRCm39)	missense
R8936:Tex2	UTSW	11	106,458,144 (GRCm39)	nonsense	probably null
R8988:Tex2	UTSW	11	106,402,731 (GRCm39)	missense	unknown
R9165:Tex2	UTSW	11	106,458,095 (GRCm39)	missense	unknown
R9294:Tex2	UTSW	11	106,459,361 (GRCm39)	missense	probably damaging	1.00
R9314:Tex2	UTSW	11	106,435,075 (GRCm39)	missense	unknown
R9405:Tex2	UTSW	11	106,435,214 (GRCm39)	missense	unknown
R9419:Tex2	UTSW	11	106,457,835 (GRCm39)	nonsense	probably null
R9477:Tex2	UTSW	11	106,410,706 (GRCm39)	critical splice donor site	probably null
R9626:Tex2	UTSW	11	106,437,579 (GRCm39)	missense	unknown
R9634:Tex2	UTSW	11	106,458,978 (GRCm39)	missense	unknown
T0970:Tex2	UTSW	11	106,437,772 (GRCm39)	missense	unknown
Z1177:Tex2	UTSW	11	106,424,834 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAACACCATAGCGGGCTCAG -3'
(R):5'- GAGGCTTTATGGAAATAAGCACCTG -3'

Sequencing Primer
(F):5'- GGCTCAGTCCCTAGATAGTTACAG -3'
(R):5'- GGAAATAAGCACCTGTCTGAATCTC -3'

Posted On

2015-02-05