Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02436:Tex30'

293272

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tex30

Ensembl Gene

ENSMUSG00000026049

Gene Name

testis expressed 30

Synonyms

1700029F09Rik, 3110030D08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

IGL02436

Quality Score

Status

Chromosome

Chromosomal Location

44125773-44141601 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 44127665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027215] [ENSMUST00000125540] [ENSMUST00000127923] [ENSMUST00000128190] [ENSMUST00000129702] [ENSMUST00000133677] [ENSMUST00000143327] [ENSMUST00000147571] [ENSMUST00000152239] [ENSMUST00000156392] [ENSMUST00000150911] [ENSMUST00000149502] [ENSMUST00000147661]

AlphaFold

Q3TUU5

Predicted Effect

probably benign
Transcript: ENSMUST00000027215
AA Change: E90G

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000027215
Gene: ENSMUSG00000026049
AA Change: E90G

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	31	193	3.5e-23	PFAM
Pfam:DLH	65	211	2.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125540

SMART Domains

Protein: ENSMUSP00000121385
Gene: ENSMUSG00000026049

Domain	Start	End	E-Value	Type
SCOP:d1thta_	4	64	8e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127923
AA Change: E49G

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000128190
AA Change: E90G

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117565
Gene: ENSMUSG00000026049
AA Change: E90G

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	31	193	3.5e-23	PFAM
Pfam:DLH	65	211	2.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129702

SMART Domains

Protein: ENSMUSP00000115464
Gene: ENSMUSG00000026049

Domain	Start	End	E-Value	Type
SCOP:d1fj2a_	20	78	1e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133677
AA Change: E90G

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115068
Gene: ENSMUSG00000026049
AA Change: E90G

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	31	193	1.2e-23	PFAM
Pfam:DLH	65	214	2.7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134195

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143327
AA Change: E49G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000147571
AA Change: E90G

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114624
Gene: ENSMUSG00000026049
AA Change: E90G

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	31	193	3.5e-23	PFAM
Pfam:DLH	65	211	2.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152239
AA Change: E90G

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114991
Gene: ENSMUSG00000026049
AA Change: E90G

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	31	193	3.5e-23	PFAM
Pfam:DLH	65	211	2.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156392
AA Change: E90G

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000121035
Gene: ENSMUSG00000026049
AA Change: E90G

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	31	193	3.5e-23	PFAM
Pfam:DLH	65	211	2.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150911
AA Change: E90G

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120928
Gene: ENSMUSG00000026049
AA Change: E90G

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	31	193	1.2e-23	PFAM
Pfam:DLH	65	214	2.7e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000149502

SMART Domains

Protein: ENSMUSP00000115939
Gene: ENSMUSG00000026049

Domain	Start	End	E-Value	Type
SCOP:d1thta_	4	64	6e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147661
AA Change: E13G

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148542

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Carm1	A	T	9: 21,490,758 (GRCm39)	R209W	probably damaging	Het
Clec4a2	A	G	6: 123,117,637 (GRCm39)	D185G	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dyrk3	A	G	1: 131,056,602 (GRCm39)	S524P	probably benign	Het
Gm17175	A	T	14: 51,807,108 (GRCm39)		probably benign	Het
Hdx	A	T	X: 110,510,445 (GRCm39)	D512E	probably damaging	Het
Hs6st2	T	G	X: 50,768,891 (GRCm39)	T275P	possibly damaging	Het
Hus1	T	C	11: 8,956,057 (GRCm39)	I159V	possibly damaging	Het
Lrrc37a	T	C	11: 103,389,003 (GRCm39)	T2141A	unknown	Het
Ncoa7	A	T	10: 30,570,143 (GRCm39)	I272N	probably damaging	Het
Or10ad1b	G	T	15: 98,125,171 (GRCm39)	C118*	probably null	Het
P3h2	T	C	16: 25,815,950 (GRCm39)	K188E	probably benign	Het
Pcsk5	A	G	19: 17,542,072 (GRCm39)		probably null	Het
Pramel13	G	T	4: 144,119,539 (GRCm39)	P343T	possibly damaging	Het
Scn1a	G	A	2: 66,181,497 (GRCm39)	P9S	probably benign	Het
Slc7a9	C	A	7: 35,156,478 (GRCm39)	L307I	probably benign	Het
Srebf2	G	A	15: 82,081,928 (GRCm39)	G87S	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tent5c	C	A	3: 100,379,823 (GRCm39)	R311L	probably benign	Het
Thoc2l	T	A	5: 104,669,021 (GRCm39)	I1181K	probably benign	Het
Tnrc6a	C	T	7: 122,783,438 (GRCm39)	R970*	probably null	Het
Vgll2	A	T	10: 51,901,318 (GRCm39)	R83*	probably null	Het

Other mutations in Tex30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02220:Tex30	APN	1	44,126,182 (GRCm39)	missense	probably benign
IGL02886:Tex30	APN	1	44,127,683 (GRCm39)	missense	probably damaging	1.00
R1895:Tex30	UTSW	1	44,130,564 (GRCm39)	missense	probably damaging	0.99
R1946:Tex30	UTSW	1	44,130,564 (GRCm39)	missense	probably damaging	0.99
R4234:Tex30	UTSW	1	44,130,672 (GRCm39)	missense	possibly damaging	0.77
R4807:Tex30	UTSW	1	44,126,118 (GRCm39)	missense	possibly damaging	0.58
R6633:Tex30	UTSW	1	44,127,084 (GRCm39)	missense	probably benign	0.43
R7618:Tex30	UTSW	1	44,127,410 (GRCm39)	splice site	probably null
R8096:Tex30	UTSW	1	44,127,663 (GRCm39)	missense	probably damaging	1.00
R9030:Tex30	UTSW	1	44,130,356 (GRCm39)	missense
R9051:Tex30	UTSW	1	44,127,136 (GRCm39)	missense	possibly damaging	0.87
R9226:Tex30	UTSW	1	44,126,133 (GRCm39)	missense	probably damaging	1.00
R9352:Tex30	UTSW	1	44,130,753 (GRCm39)	critical splice acceptor site	probably null
R9700:Tex30	UTSW	1	44,130,374 (GRCm39)	critical splice acceptor site	probably null

Posted On

2015-04-16