Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03261:Tex16'

414817

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tex16

Ensembl Gene

ENSMUSG00000034555

Gene Name

testis expressed gene 16

Synonyms

4933403O08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL03261

Quality Score

Status

Chromosome

Chromosomal Location

110804655-111159053 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 111028552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 350 (D350E)

Ref Sequence

ENSEMBL: ENSMUSP00000118847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038546] [ENSMUST00000130247] [ENSMUST00000207962]

AlphaFold

A2RT18

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038546
AA Change: D339E

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048187
Gene: ENSMUSG00000034555
AA Change: D339E

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
low complexity region	110	122	N/A	INTRINSIC
low complexity region	616	669	N/A	INTRINSIC
low complexity region	674	699	N/A	INTRINSIC
low complexity region	811	824	N/A	INTRINSIC
low complexity region	833	850	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130247
AA Change: D350E

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118847
Gene: ENSMUSG00000034555
AA Change: D350E

Domain	Start	End	E-Value	Type
low complexity region	10	24	N/A	INTRINSIC
low complexity region	121	133	N/A	INTRINSIC
low complexity region	627	680	N/A	INTRINSIC
low complexity region	685	710	N/A	INTRINSIC
low complexity region	822	835	N/A	INTRINSIC
low complexity region	844	861	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207962

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	G	7: 27,279,863 (GRCm39)	Y281*	probably null	Het
Adamts3	T	C	5: 90,030,756 (GRCm39)		probably benign	Het
Afp	T	C	5: 90,639,610 (GRCm39)		probably null	Het
Ap1g2	T	C	14: 55,337,987 (GRCm39)	T634A	probably benign	Het
Cidec	A	G	6: 113,410,133 (GRCm39)	V32A	probably benign	Het
Dip2a	G	A	10: 76,140,982 (GRCm39)	P315S	possibly damaging	Het
Hoxc11	T	C	15: 102,863,178 (GRCm39)	V73A	probably benign	Het
Jmjd1c	A	G	10: 67,067,849 (GRCm39)	Y1784C	probably damaging	Het
Mmp21	A	G	7: 133,276,403 (GRCm39)	V480A	probably benign	Het
Nek4	C	T	14: 30,697,247 (GRCm39)	T471I	probably benign	Het
Nr4a2	A	G	2: 57,000,199 (GRCm39)	V299A	probably benign	Het
Or14j8	A	T	17: 38,263,697 (GRCm39)	S73T	possibly damaging	Het
Or6c5	A	G	10: 129,074,272 (GRCm39)	T85A	possibly damaging	Het
Ptprg	A	G	14: 12,225,552 (GRCm38)	D505G	probably damaging	Het
Rag2	A	G	2: 101,460,608 (GRCm39)	D306G	probably damaging	Het
Rpap2	T	A	5: 107,746,426 (GRCm39)	S38T	possibly damaging	Het
Scart2	A	G	7: 139,874,746 (GRCm39)	H408R	probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Slx4ip	A	T	2: 136,888,659 (GRCm39)	R113S	probably benign	Het
Smyd5	T	A	6: 85,409,000 (GRCm39)	M5K	probably benign	Het
Stkld1	A	T	2: 26,842,789 (GRCm39)	H587L	probably benign	Het
Taf4b	A	G	18: 14,954,585 (GRCm39)	T554A	probably benign	Het
Tex38	T	C	4: 115,637,723 (GRCm39)	K27E	possibly damaging	Het
Trdv4	T	C	14: 54,312,875 (GRCm39)	L83P	possibly damaging	Het
Ugt2a3	G	A	5: 87,484,439 (GRCm39)	P195L	probably damaging	Het
Vmn1r120	A	G	7: 20,787,450 (GRCm39)	L87P	probably damaging	Het
Zfp236	T	C	18: 82,648,733 (GRCm39)	D916G	possibly damaging	Het

Other mutations in Tex16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01712:Tex16	APN	X	111,003,451 (GRCm39)	missense	probably damaging	1.00
IGL02576:Tex16	APN	X	111,028,653 (GRCm39)	missense	probably benign	0.07
R1766:Tex16	UTSW	X	111,150,782 (GRCm39)	missense	probably benign	0.02
R2274:Tex16	UTSW	X	111,030,838 (GRCm39)	missense	probably damaging	0.98
R3607:Tex16	UTSW	X	111,003,667 (GRCm39)	missense	probably damaging	1.00
R3794:Tex16	UTSW	X	111,150,375 (GRCm39)	start codon destroyed	probably null	0.27
R4209:Tex16	UTSW	X	111,030,640 (GRCm39)	missense	probably benign	0.01
R4210:Tex16	UTSW	X	111,030,640 (GRCm39)	missense	probably benign	0.01
U24488:Tex16	UTSW	X	111,028,815 (GRCm39)	missense	probably benign	0.05
Z1176:Tex16	UTSW	X	111,151,010 (GRCm39)	missense	probably benign	0.36

Posted On

2016-08-02