Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02886:Tex30'

363008

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 #

IGL02886

Quality Score

Status

Chromosome

Chromosomal Location

44125773-44141601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44127683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 7 (Y7C)

Ref Sequence

ENSEMBL: ENSMUSP00000119648 (fasta)

Gene Model

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

AlphaFold

Q3TUU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000027215
AA Change: Y84C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027215
Gene: ENSMUSG00000026049
AA Change: Y84C

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 damaging
Transcript: ENSMUST00000125540
AA Change: Y94C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121385
Gene: ENSMUSG00000026049
AA Change: Y94C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000127923
AA Change: Y43C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000128190
AA Change: Y84C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117565
Gene: ENSMUSG00000026049
AA Change: Y84C

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 damaging
Transcript: ENSMUST00000133677
AA Change: Y84C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115068
Gene: ENSMUSG00000026049
AA Change: Y84C

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 damaging
Transcript: ENSMUST00000150911
AA Change: Y84C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120928
Gene: ENSMUSG00000026049
AA Change: Y84C

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 damaging
Transcript: ENSMUST00000143327
AA Change: Y43C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000147571
AA Change: Y84C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114624
Gene: ENSMUSG00000026049
AA Change: Y84C

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 damaging
Transcript: ENSMUST00000152239
AA Change: Y84C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114991
Gene: ENSMUSG00000026049
AA Change: Y84C

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 damaging
Transcript: ENSMUST00000156392
AA Change: Y84C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121035
Gene: ENSMUSG00000026049
AA Change: Y84C

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 damaging
Transcript: ENSMUST00000149502
AA Change: Y84C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115939
Gene: ENSMUSG00000026049
AA Change: Y84C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000147661
AA Change: Y7C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148542

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,921,863 (GRCm39)	C1140S	probably damaging	Het
Abhd12b	T	C	12: 70,229,740 (GRCm39)	I238T	possibly damaging	Het
Adgrb3	T	C	1: 25,543,991 (GRCm39)		probably null	Het
Baz2b	A	T	2: 59,788,087 (GRCm39)		probably null	Het
Brwd3	T	C	X: 107,794,454 (GRCm39)	Y1410C	probably damaging	Het
Casp7	T	A	19: 56,421,775 (GRCm39)	I71N	probably damaging	Het
Cspg4	A	T	9: 56,804,672 (GRCm39)	I1828F	probably damaging	Het
Cul2	T	C	18: 3,426,920 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,986,700 (GRCm39)	D5409G	possibly damaging	Het
Fam187a	A	T	11: 102,777,380 (GRCm39)	T395S	probably benign	Het
Fcgr2b	A	G	1: 170,793,297 (GRCm39)	V244A	possibly damaging	Het
Fubp1	A	G	3: 151,926,392 (GRCm39)	E333G	possibly damaging	Het
Ganab	G	T	19: 8,888,391 (GRCm39)		probably benign	Het
Hpdl	A	G	4: 116,677,952 (GRCm39)	S170P	probably benign	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Klhl11	T	C	11: 100,363,047 (GRCm39)	S170G	possibly damaging	Het
Lrrc56	A	G	7: 140,777,090 (GRCm39)		probably benign	Het
Lrrd1	T	C	5: 3,901,534 (GRCm39)	V613A	probably benign	Het
Myo1e	T	C	9: 70,276,055 (GRCm39)	F757L	probably benign	Het
Myo5a	T	A	9: 75,059,169 (GRCm39)		probably benign	Het
Myocd	T	A	11: 65,069,569 (GRCm39)	D837V	probably damaging	Het
Naip6	T	C	13: 100,436,984 (GRCm39)	Q513R	possibly damaging	Het
Nol4l	A	G	2: 153,371,457 (GRCm39)	F76L	probably benign	Het
Or10ak7	T	C	4: 118,792,027 (GRCm39)	E6G	probably benign	Het
Or2b2b	T	A	13: 21,859,122 (GRCm39)		probably benign	Het
Or5b98	T	A	19: 12,931,882 (GRCm39)	S310T	probably benign	Het
Pck1	G	A	2: 172,996,649 (GRCm39)	E188K	probably benign	Het
Pdcd11	T	C	19: 47,102,064 (GRCm39)	V1083A	possibly damaging	Het
Primpol	G	A	8: 47,046,619 (GRCm39)	Q226*	probably null	Het
Rbm15	A	C	3: 107,233,611 (GRCm39)	V959G	probably benign	Het
Rorb	A	G	19: 18,954,943 (GRCm39)		probably null	Het
Spata9	T	C	13: 76,125,853 (GRCm39)	L112P	probably damaging	Het
Stk24	A	T	14: 121,529,527 (GRCm39)	L375Q	probably null	Het
Svip	A	G	7: 51,655,509 (GRCm39)	S11P	possibly damaging	Het
Taf13	T	C	3: 108,488,500 (GRCm39)		probably benign	Het
Tmem68	T	C	4: 3,569,361 (GRCm39)		probably benign	Het
Tnc	T	C	4: 63,918,344 (GRCm39)	E1189G	probably damaging	Het
Top2b	T	C	14: 16,365,688 (GRCm38)	S4P	possibly damaging	Het
Trav3-3	C	A	14: 53,903,822 (GRCm39)	L47I	probably benign	Het
Ttn	G	A	2: 76,733,557 (GRCm39)		probably benign	Het
Uroc1	A	G	6: 90,323,811 (GRCm39)		probably benign	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
IGL02436:Tex30	APN	1	44,127,665 (GRCm39)	splice site	probably null
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

2015-12-18