Mutagenetix > Incidental Mutation

Incidental Mutation 'T0970:Tex2'

67269

Institutional Source

Beutler Lab

Gene Symbol

Tex2

Ensembl Gene

ENSMUSG00000040548

Gene Name

testis expressed gene 2

Synonyms

4930568E07Rik, Taz4, Def-5

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

T0970 (G3) of strain 713

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106392973-106504249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106437772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 633 (I633F)

Ref Sequence

ENSEMBL: ENSMUSP00000099359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042780] [ENSMUST00000103070]

AlphaFold

Q6ZPJ0

Predicted Effect

unknown
Transcript: ENSMUST00000042780
AA Change: I633F

SMART Domains

Protein: ENSMUSP00000041985
Gene: ENSMUSG00000040548
AA Change: I633F

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

unknown
Transcript: ENSMUST00000103070
AA Change: I633F

SMART Domains

Protein: ENSMUSP00000099359
Gene: ENSMUSG00000040548
AA Change: I633F

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

Predicted Effect

unknown
Transcript: ENSMUST00000207249
AA Change: I135F

Meta Mutation Damage Score

0.9301

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.3%
20x: 94.7%

Validation Efficiency

100% (25/25)

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	A	T	10: 88,817,052 (GRCm39)	L591*	probably null	Het
Aqp4	A	G	18: 15,532,940 (GRCm39)	L51P	probably damaging	Het
Cemip	A	T	7: 83,632,354 (GRCm39)	C403S	probably damaging	Het
Cfap74	G	T	4: 155,547,574 (GRCm39)		probably null	Het
Glis3	G	A	19: 28,508,332 (GRCm39)	R551W	probably damaging	Het
Gm11232	T	A	4: 71,674,740 (GRCm39)	Y254F	possibly damaging	Het
Map3k14	G	T	11: 103,115,124 (GRCm39)	C837*	probably null	Het
Mrc2	A	C	11: 105,238,453 (GRCm39)	E1200A	probably benign	Het
Nfix	T	C	8: 85,453,112 (GRCm39)	N314S	possibly damaging	Het
Nphp4	T	C	4: 152,640,836 (GRCm39)	S1068P	probably damaging	Het
Nup98	A	C	7: 101,835,959 (GRCm39)		probably benign	Het
Or13p8	A	G	4: 118,583,464 (GRCm39)	R7G	probably benign	Het
Pcdhac2	T	C	18: 37,278,388 (GRCm39)	V456A	possibly damaging	Het
Pcdhb1	G	T	18: 37,399,026 (GRCm39)	G326C	probably damaging	Het
Prss38	A	G	11: 59,263,974 (GRCm39)	V246A	possibly damaging	Het
Rnf26	C	G	9: 44,023,369 (GRCm39)	R172P	probably damaging	Het
Septin4	A	T	11: 87,458,558 (GRCm39)	T311S	probably damaging	Het
Serinc3	TATCATC	TATC	2: 163,469,835 (GRCm39)		probably benign	Het
Spire1	C	A	18: 67,634,133 (GRCm39)		probably null	Het
Tle2	A	G	10: 81,416,119 (GRCm39)	D108G	possibly damaging	Het
Txnrd2	T	C	16: 18,260,523 (GRCm39)	V185A	probably damaging	Het
Unc45b	C	A	11: 82,813,714 (GRCm39)	H374N	probably benign	Het
Wtap	T	C	17: 13,188,277 (GRCm39)		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
R3156:Tex2	UTSW	11	106,424,695 (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
Z1177:Tex2	UTSW	11	106,424,834 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGATTTACTTCCAGAAACACCCGCC -3'
(R):5'- GCCAGCCATCTCTGAAATGTATCCC -3'

Sequencing Primer
(F):5'- AGGATGAACCGCCTGAAC -3'
(R):5'- GATGGTAGAGTTATTACCTTCCACC -3'

Posted On

2013-09-03