Mutagenetix > Incidental Mutation

Incidental Mutation 'R9416:Tex47'

712044

Institutional Source

Beutler Lab

Gene Symbol

Tex47

Ensembl Gene

ENSMUSG00000040514

Gene Name

testis expressed 47

Synonyms

4921511H03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R9416 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7354119-7361491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7355194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 125 (M125T)

Ref Sequence

ENSEMBL: ENSMUSP00000086176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088796] [ENSMUST00000159546] [ENSMUST00000160634] [ENSMUST00000200317]

AlphaFold

Q9D5W8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088796
AA Change: M125T

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000086176
Gene: ENSMUSG00000040514
AA Change: M125T

Domain	Start	End	E-Value	Type
Blast:BLUF	47	146	2e-20	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159546
AA Change: M125T

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124368
Gene: ENSMUSG00000040514
AA Change: M125T

Domain	Start	End	E-Value	Type
Blast:BLUF	47	146	2e-20	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160634
AA Change: M125T

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125471
Gene: ENSMUSG00000040514
AA Change: M125T

Domain	Start	End	E-Value	Type
Blast:BLUF	47	146	2e-20	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000200317

SMART Domains

Protein: ENSMUSP00000143568
Gene: ENSMUSG00000092094

Domain	Start	End	E-Value	Type
ZnF_C2H2	56	80	2e-2	SMART
low complexity region	958	970	N/A	INTRINSIC
low complexity region	1155	1179	N/A	INTRINSIC
low complexity region	1196	1207	N/A	INTRINSIC
low complexity region	1215	1234	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	C	T	4: 86,342,477 (GRCm39)	T1672I	probably damaging	Het
Ahnak	T	G	19: 8,990,266 (GRCm39)	M3850R	unknown	Het
Cacna1s	T	A	1: 136,022,689 (GRCm39)	L874Q	possibly damaging	Het
Cacna2d4	A	T	6: 119,274,479 (GRCm39)	D622V	probably benign	Het
Ccdc150	T	C	1: 54,317,990 (GRCm39)	S310P	probably damaging	Het
Cecr2	A	T	6: 120,735,538 (GRCm39)	N148Y		Het
Celsr2	T	C	3: 108,322,084 (GRCm39)	T243A	probably damaging	Het
Coro1b	C	T	19: 4,201,473 (GRCm39)	T279I	probably damaging	Het
Cyp51	A	G	5: 4,150,198 (GRCm39)	I175T	probably damaging	Het
Dnajc21	T	C	15: 10,462,048 (GRCm39)	I118V	possibly damaging	Het
Dtna	T	C	18: 23,780,112 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,748,784 (GRCm39)	K374R	probably benign	Het
Fance	G	A	17: 28,537,327 (GRCm39)	C53Y	probably damaging	Het
Gm14496	G	T	2: 181,640,647 (GRCm39)	C538F	probably damaging	Het
Gon4l	T	A	3: 88,803,538 (GRCm39)	V1383D	probably benign	Het
Gpr6	C	A	10: 40,946,944 (GRCm39)	D213Y	possibly damaging	Het
Has2	A	G	15: 56,531,684 (GRCm39)	Y344H	probably damaging	Het
Kcnh2	A	T	5: 24,537,964 (GRCm39)	M133K	probably benign	Het
Kdm5a	A	G	6: 120,365,056 (GRCm39)	H152R	probably damaging	Het
Klhl33	C	T	14: 51,130,225 (GRCm39)	R163H	probably damaging	Het
Lax1	T	A	1: 133,611,752 (GRCm39)	Q61L	probably benign	Het
Lct	T	C	1: 128,228,329 (GRCm39)	T1055A	possibly damaging	Het
Lrrc8c	A	G	5: 105,756,163 (GRCm39)	Y646C	possibly damaging	Het
Mtarc1	T	C	1: 184,527,633 (GRCm39)	T274A	probably benign	Het
Myo1b	A	G	1: 51,902,577 (GRCm39)	V51A	probably damaging	Het
Naip2	T	A	13: 100,298,243 (GRCm39)	S598C	probably damaging	Het
Neb	A	G	2: 52,137,215 (GRCm39)	S250P		Het
Nim1k	A	T	13: 120,189,362 (GRCm39)	C16S	probably benign	Het
Oosp1	T	C	19: 11,664,769 (GRCm39)	T96A	probably damaging	Het
Or1e1c	T	C	11: 73,265,790 (GRCm39)	S75P	probably damaging	Het
Or2q1	G	T	6: 42,795,197 (GRCm39)	R264L	probably benign	Het
Or8k17	T	A	2: 86,066,744 (GRCm39)	Q138L	probably damaging	Het
Pik3c2b	C	T	1: 133,005,187 (GRCm39)	R563C	probably damaging	Het
Ppp1r18	CGAGGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGAGGA	17: 36,184,743 (GRCm39)		probably benign	Het
Prps1l1	T	A	12: 35,035,089 (GRCm39)	M68K		Het
Prr11	A	T	11: 86,992,254 (GRCm39)	L207*	probably null	Het
Psme3	T	C	11: 101,211,559 (GRCm39)	Y202H	probably damaging	Het
Ptma	A	G	1: 86,455,694 (GRCm39)	S57G	unknown	Het
Rab24	A	G	13: 55,468,049 (GRCm39)	V33A	unknown	Het
Reep6	A	G	10: 80,166,091 (GRCm39)	T83A	probably benign	Het
Semp2l2b	C	T	10: 21,943,752 (GRCm39)	R76Q	probably benign	Het
Shroom4	GCAACAACAACAACAACAACAACAACA	GCAACAACAACAACAACAACAACA	X: 6,536,131 (GRCm39)		probably benign	Het
Siglec1	T	C	2: 130,925,390 (GRCm39)	K357R	probably benign	Het
Slc2a4	T	A	11: 69,836,728 (GRCm39)	H167L	probably benign	Het
Slc8a3	T	A	12: 81,361,838 (GRCm39)	H327L	probably benign	Het
Slf1	G	A	13: 77,194,656 (GRCm39)	L890F		Het
Smchd1	A	C	17: 71,701,791 (GRCm39)	I1067R	probably benign	Het
Stk33	T	A	7: 108,940,689 (GRCm39)	N7I	probably benign	Het
Thada	A	T	17: 84,766,292 (GRCm39)	L38*	probably null	Het
Thbs1	A	G	2: 117,947,983 (GRCm39)	D381G	probably benign	Het
Uggt1	A	T	1: 36,203,603 (GRCm39)	V1009D		Het
Usp17la	A	T	7: 104,508,531 (GRCm39)		probably benign	Het
Zfp438	A	T	18: 5,214,054 (GRCm39)	N301K	probably benign	Het
Zfp606	T	A	7: 12,227,907 (GRCm39)	I676N	possibly damaging	Het

Other mutations in Tex47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Tex47	APN	5	7,355,468 (GRCm39)	nonsense	probably null
IGL00673:Tex47	APN	5	7,355,211 (GRCm39)	missense	probably damaging	1.00
PIT4495001:Tex47	UTSW	5	7,355,011 (GRCm39)	missense	probably benign	0.34
R0648:Tex47	UTSW	5	7,355,215 (GRCm39)	missense	probably benign	0.04
R1911:Tex47	UTSW	5	7,355,022 (GRCm39)	missense	probably damaging	0.98
R2163:Tex47	UTSW	5	7,355,022 (GRCm39)	missense	probably damaging	0.98
R3690:Tex47	UTSW	5	7,354,777 (GRCm39)	intron	probably benign
R3762:Tex47	UTSW	5	7,355,529 (GRCm39)	missense	probably benign	0.01
R4423:Tex47	UTSW	5	7,355,364 (GRCm39)	missense	probably benign	0.10
R4424:Tex47	UTSW	5	7,355,364 (GRCm39)	missense	probably benign	0.10
R5107:Tex47	UTSW	5	7,354,842 (GRCm39)	missense	probably benign	0.01
R5379:Tex47	UTSW	5	7,354,843 (GRCm39)	missense	probably null	0.01
R5589:Tex47	UTSW	5	7,354,834 (GRCm39)	missense	probably benign
R6265:Tex47	UTSW	5	7,355,461 (GRCm39)	missense	probably damaging	1.00
R6325:Tex47	UTSW	5	7,354,935 (GRCm39)	nonsense	probably null
R6580:Tex47	UTSW	5	7,355,212 (GRCm39)	missense	probably damaging	1.00
R8390:Tex47	UTSW	5	7,355,301 (GRCm39)	missense	probably benign	0.00
R8889:Tex47	UTSW	5	7,355,115 (GRCm39)	missense	probably damaging	0.99
R8892:Tex47	UTSW	5	7,355,115 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTGGGCTACATACAAGGCAAC -3'
(R):5'- TCTTGTAAAGTTGGAGTGCCAG -3'

Sequencing Primer
(F):5'- GGACATCTCTGAGTACTATGAGC -3'
(R):5'- AGTGCCAGTTTGTGAGTCATG -3'

Posted On

2022-05-16