Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02220:Tex30'

285101

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 #

IGL02220

Quality Score

Status

Chromosome

Chromosomal Location

44125773-44141601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44126182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 182 (S182R)

Ref Sequence

ENSEMBL: ENSMUSP00000121035 (fasta)

Gene Model

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

AlphaFold

Q3TUU5

Predicted Effect

probably benign
Transcript: ENSMUST00000027215
AA Change: S182R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027215
Gene: ENSMUSG00000026049
AA Change: S182R

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

probably benign
Transcript: ENSMUST00000127923

Predicted Effect

probably benign
Transcript: ENSMUST00000128190
AA Change: S182R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117565
Gene: ENSMUSG00000026049
AA Change: S182R

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: S182R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115068
Gene: ENSMUSG00000026049
AA Change: S182R

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

probably benign
Transcript: ENSMUST00000150911
AA Change: S182R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120928
Gene: ENSMUSG00000026049
AA Change: S182R

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 benign
Transcript: ENSMUST00000156392
AA Change: S182R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121035
Gene: ENSMUSG00000026049
AA Change: S182R

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: S182R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114991
Gene: ENSMUSG00000026049
AA Change: S182R

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: ENSMUST00000147571
AA Change: S182R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114624
Gene: ENSMUSG00000026049
AA Change: S182R

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

noncoding transcript
Transcript: ENSMUST00000148542

Predicted Effect

probably benign
Transcript: ENSMUST00000143327

Predicted Effect

probably benign
Transcript: ENSMUST00000149502

SMART Domains

Protein: ENSMUSP00000115939
Gene: ENSMUSG00000026049

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147661

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,310,395 (GRCm39)	D460G	probably damaging	Het
Ankrd9	T	C	12: 110,943,933 (GRCm39)	M1V	probably null	Het
Anks1	T	C	17: 28,273,681 (GRCm39)	I977T	probably damaging	Het
Bcar1	T	C	8: 112,437,839 (GRCm39)	D767G	possibly damaging	Het
Bcl6	A	T	16: 23,793,641 (GRCm39)	I102N	probably damaging	Het
Cacna2d2	G	A	9: 107,392,078 (GRCm39)	G473D	probably damaging	Het
Cdh23	G	T	10: 60,140,903 (GRCm39)	H3148Q	probably damaging	Het
Col6a4	A	G	9: 105,940,141 (GRCm39)	V1263A	possibly damaging	Het
Crtc2	T	C	3: 90,166,455 (GRCm39)		probably benign	Het
D130043K22Rik	G	A	13: 25,067,738 (GRCm39)	G825S	possibly damaging	Het
Dera	T	A	6: 137,757,815 (GRCm39)		probably null	Het
Dnah17	G	T	11: 117,963,793 (GRCm39)	Y2506*	probably null	Het
Enam	T	A	5: 88,652,418 (GRCm39)	L1309*	probably null	Het
Fbxo15	G	A	18: 84,982,317 (GRCm39)		probably null	Het
Fgfbp1	T	C	5: 44,136,828 (GRCm39)	K155E	probably damaging	Het
Foxj2	C	T	6: 122,815,540 (GRCm39)		probably benign	Het
Fuca1	A	G	4: 135,666,530 (GRCm39)		probably benign	Het
Gad1-ps	T	A	10: 99,281,184 (GRCm39)		noncoding transcript	Het
H2-Eb2	C	T	17: 34,544,661 (GRCm39)		probably benign	Het
Insr	A	T	8: 3,209,578 (GRCm39)	F1168L	probably damaging	Het
Isx	T	A	8: 75,619,333 (GRCm39)	V175E	possibly damaging	Het
Kansl3	T	C	1: 36,407,070 (GRCm39)		probably benign	Het
Lin9	T	C	1: 180,494,932 (GRCm39)	I218T	probably damaging	Het
Llgl2	C	A	11: 115,736,205 (GRCm39)	A126D	possibly damaging	Het
Ltbp2	T	C	12: 84,876,083 (GRCm39)	E488G	possibly damaging	Het
Maml3	A	G	3: 51,597,639 (GRCm39)	V369A	possibly damaging	Het
Mthfsl	A	G	9: 88,597,708 (GRCm39)	I14T	probably damaging	Het
Myo3b	A	G	2: 70,119,923 (GRCm39)		probably benign	Het
Nfkbil1	T	C	17: 35,439,722 (GRCm39)	R264G	possibly damaging	Het
Or4c3d	A	G	2: 89,882,038 (GRCm39)	L210P	probably damaging	Het
Pde5a	G	T	3: 122,542,031 (GRCm39)	A174S	probably benign	Het
Plch1	A	T	3: 63,606,382 (GRCm39)	I1173N	probably damaging	Het
Ppfia1	C	A	7: 144,035,512 (GRCm39)	R1171L	probably damaging	Het
Prom1	T	C	5: 44,172,131 (GRCm39)	D595G	probably damaging	Het
Ptprz1	T	C	6: 23,042,742 (GRCm39)		probably benign	Het
Samsn1	A	G	16: 75,680,763 (GRCm39)		probably null	Het
Sbno2	T	A	10: 79,908,202 (GRCm39)	T66S	probably benign	Het
Serpina1c	T	A	12: 103,862,338 (GRCm39)	I326F	probably damaging	Het
Slc12a1	T	C	2: 125,030,190 (GRCm39)		probably null	Het
Slc18a2	A	G	19: 59,264,988 (GRCm39)	E324G	probably benign	Het
Slc40a1	A	T	1: 45,950,495 (GRCm39)	M319K	probably damaging	Het
Slc44a5	T	C	3: 153,956,608 (GRCm39)	Y287H	possibly damaging	Het
Stx4a	A	G	7: 127,441,672 (GRCm39)	E63G	possibly damaging	Het
Sv2a	T	C	3: 96,098,032 (GRCm39)	F545S	probably benign	Het
Svop	T	C	5: 114,203,589 (GRCm39)	D65G	probably benign	Het
Tmem121b	T	C	6: 120,469,298 (GRCm39)	D473G	probably damaging	Het
Tnfrsf19	C	A	14: 61,210,941 (GRCm39)		probably benign	Het
Tnrc6a	T	C	7: 122,769,679 (GRCm39)	S490P	probably benign	Het
Ubr4	A	G	4: 139,115,746 (GRCm39)	T82A	probably benign	Het
Vps16	A	G	2: 130,283,573 (GRCm39)	D589G	possibly damaging	Het
Zscan29	A	C	2: 120,997,170 (GRCm39)	S184A	probably damaging	Het

Other mutations in Tex30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02436:Tex30	APN	1	44,127,665 (GRCm39)	splice site	probably null
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