Mutagenetix > Incidental Mutation

Incidental Mutation 'R0712:Tex264'

62786

Institutional Source

Beutler Lab

Gene Symbol

Tex264

Ensembl Gene

ENSMUSG00000040813

Gene Name

testis expressed gene 264

Synonyms

TEG-264

MMRRC Submission

038895-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.476) question?

Stock #

R0712 (G1)

Quality Score

191

Status

Not validated

Chromosome

Chromosomal Location

106535945-106563126 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 106536431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 242 (L242R)

Ref Sequence

ENSEMBL: ENSMUSP00000133194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023959] [ENSMUST00000046735] [ENSMUST00000163441] [ENSMUST00000169068] [ENSMUST00000201681]

AlphaFold

E9Q137

Predicted Effect

probably benign
Transcript: ENSMUST00000023959

SMART Domains

Protein: ENSMUSP00000023959
Gene: ENSMUSG00000023192

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	60	460	1.3e-96	PFAM
Pfam:NCD3G	496	546	3.7e-13	PFAM
Pfam:7tm_3	579	816	4.3e-63	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046735
AA Change: L242R

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044654
Gene: ENSMUSG00000040813
AA Change: L242R

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:GyrI-like	41	185	1e-12	PFAM
low complexity region	208	225	N/A	INTRINSIC
low complexity region	258	291	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163441
AA Change: L242R

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132247
Gene: ENSMUSG00000040813
AA Change: L242R

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
SCOP:d1jyha_	46	133	7e-3	SMART
low complexity region	208	225	N/A	INTRINSIC
low complexity region	258	291	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169068
AA Change: L242R

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133194
Gene: ENSMUSG00000040813
AA Change: L242R

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:GyrI-like	41	176	4.2e-11	PFAM
low complexity region	220	253	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214885

Predicted Effect

probably benign
Transcript: ENSMUST00000201681

SMART Domains

Protein: ENSMUSP00000144631
Gene: ENSMUSG00000023192

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	60	460	4.1e-95	PFAM
Pfam:7tm_3	458	538	4.6e-18	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd1	G	A	X: 72,774,471 (GRCm39)	V489M	possibly damaging	Het
Anln	A	T	9: 22,291,594 (GRCm39)	V78E	probably benign	Het
Atp2b4	T	C	1: 133,658,216 (GRCm39)	K565E	probably damaging	Het
Cap2	T	C	13: 46,768,837 (GRCm39)		probably null	Het
Cdh22	A	G	2: 165,012,576 (GRCm39)	Y170H	probably damaging	Het
Chrna5	A	T	9: 54,911,647 (GRCm39)	K45I	probably damaging	Het
Dnaaf4	G	T	9: 72,867,939 (GRCm39)	G67*	probably null	Het
Hdac8	T	A	X: 101,543,524 (GRCm39)	M67L	probably benign	Het
Lama1	A	G	17: 68,086,037 (GRCm39)		probably null	Het
Lrba	T	A	3: 86,205,297 (GRCm39)	Y380*	probably null	Het
Mastl	A	G	2: 23,041,005 (GRCm39)	Y106H	probably damaging	Het
Obscn	T	C	11: 58,940,271 (GRCm39)	E5210G	possibly damaging	Het
Or12d2	T	A	17: 37,624,975 (GRCm39)	H100L	probably damaging	Het
Or4d5	A	G	9: 40,012,726 (GRCm39)	V20A	probably benign	Het
Pcgf2	T	C	11: 97,581,830 (GRCm39)	Y21C	probably damaging	Het
Penk	T	C	4: 4,134,257 (GRCm39)	E130G	probably benign	Het
Rnmt	G	A	18: 68,440,859 (GRCm39)		probably null	Het
Stk11ip	T	A	1: 75,504,091 (GRCm39)	L277Q	probably damaging	Het
Synpo2l	A	G	14: 20,711,907 (GRCm39)	S238P	probably damaging	Het
Ubald2	T	C	11: 116,325,401 (GRCm39)	F46S	probably damaging	Het
Zfp692	T	C	11: 58,205,140 (GRCm39)	V463A	probably benign	Het

Other mutations in Tex264

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Tex264	APN	9	106,539,607 (GRCm39)	missense	possibly damaging	0.95
IGL01533:Tex264	APN	9	106,550,798 (GRCm39)	missense	probably benign
R0737:Tex264	UTSW	9	106,536,498 (GRCm39)	missense	probably benign	0.42
R1579:Tex264	UTSW	9	106,559,116 (GRCm39)	missense	possibly damaging	0.95
R2983:Tex264	UTSW	9	106,559,296 (GRCm39)	missense	unknown
R4772:Tex264	UTSW	9	106,550,901 (GRCm39)	missense	possibly damaging	0.92
R7553:Tex264	UTSW	9	106,536,335 (GRCm39)	missense	probably damaging	0.99
R9437:Tex264	UTSW	9	106,559,096 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGCTCAGTTCCTTAGCAAATGCACC -3'
(R):5'- TAGCTGTCCCTGGACAAACCACTC -3'

Sequencing Primer
(F):5'- GAGGGCTTATCATTACTCCTCAC -3'
(R):5'- CTCTCAAGCCTGAAAATGAATGG -3'

Posted On

2013-07-30