Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03261:Tex38'

414812

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tex38

Ensembl Gene

ENSMUSG00000044556

Gene Name

testis expressed 38

Synonyms

4930544O15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03261

Quality Score

Status

Chromosome

Chromosomal Location

115637031-115638215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115637723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 27 (K27E)

Ref Sequence

ENSEMBL: ENSMUSP00000102131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074425] [ENSMUST00000106521] [ENSMUST00000176047] [ENSMUST00000177280]

AlphaFold

A2A8T7

Predicted Effect

probably benign
Transcript: ENSMUST00000074425

SMART Domains

Protein: ENSMUSP00000074025
Gene: ENSMUSG00000034210

Domain	Start	End	E-Value	Type
low complexity region	34	49	N/A	INTRINSIC
transmembrane domain	70	92	N/A	INTRINSIC
SCOP:d1fi6a_	425	498	2e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106521
AA Change: K27E

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102131
Gene: ENSMUSG00000044556
AA Change: K27E

Domain	Start	End	E-Value	Type
Pfam:THEG4	1	200	5e-111	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176047

SMART Domains

Protein: ENSMUSP00000135831
Gene: ENSMUSG00000028710

Domain	Start	End	E-Value	Type
low complexity region	9	39	N/A	INTRINSIC
Pfam:ATP11	91	329	2.7e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177280

SMART Domains

Protein: ENSMUSP00000135214
Gene: ENSMUSG00000028710

Domain	Start	End	E-Value	Type
low complexity region	9	39	N/A	INTRINSIC
Pfam:ATP11	89	212	7.3e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184179

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
Tex16	C	A	X: 111,028,552 (GRCm39)	D350E	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 Tex38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02089:Tex38	APN	4	115,637,591 (GRCm39)	missense	possibly damaging	0.86
IGL03093:Tex38	APN	4	115,637,762 (GRCm39)	missense	probably damaging	1.00
R1572:Tex38	UTSW	4	115,637,503 (GRCm39)	missense	probably benign	0.01
R1968:Tex38	UTSW	4	115,637,537 (GRCm39)	missense	probably benign	0.00
R4361:Tex38	UTSW	4	115,637,420 (GRCm39)	missense	probably benign
R8977:Tex38	UTSW	4	115,637,792 (GRCm39)	missense	probably benign	0.13

Posted On

2016-08-02