Mutagenetix > Incidental Mutation

Incidental Mutation 'R8096:Tex30'

630174

Institutional Source

Beutler Lab

Gene Symbol

Tex30

Ensembl Gene

ENSMUSG00000026049

Gene Name

testis expressed 30

Synonyms

1700029F09Rik, 3110030D08Rik

MMRRC Submission

067528-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R8096 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44125773-44141601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44127663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 91 (Y91N)

Ref Sequence

ENSEMBL: ENSMUSP00000027215 (fasta)

Gene Model

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

AlphaFold

Q3TUU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000027215
AA Change: Y91N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027215
Gene: ENSMUSG00000026049
AA Change: Y91N

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 damaging
Transcript: ENSMUST00000127923
AA Change: Y50N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000128190
AA Change: Y91N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117565
Gene: ENSMUSG00000026049
AA Change: Y91N

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: Y91N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115068
Gene: ENSMUSG00000026049
AA Change: Y91N

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

silent
Transcript: ENSMUST00000143327

Predicted Effect

probably damaging
Transcript: ENSMUST00000147571
AA Change: Y91N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114624
Gene: ENSMUSG00000026049
AA Change: Y91N

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: ENSMUST00000147661
AA Change: Y14N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

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 damaging
Transcript: ENSMUST00000150911
AA Change: Y91N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120928
Gene: ENSMUSG00000026049
AA Change: Y91N

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: ENSMUST00000152239
AA Change: Y91N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114991
Gene: ENSMUSG00000026049
AA Change: Y91N

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: Y91N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121035
Gene: ENSMUSG00000026049
AA Change: Y91N

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.1%
20x: 97.3%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	G	A	14: 54,882,726 (GRCm39)	A999V	possibly damaging	Het
Actn4	A	G	7: 28,594,008 (GRCm39)	I833T	possibly damaging	Het
Actn4	C	A	7: 28,601,338 (GRCm39)	R470L	probably damaging	Het
Adgre4	T	A	17: 56,127,700 (GRCm39)	I580N	probably damaging	Het
Arid5b	T	A	10: 68,021,982 (GRCm39)	T203S	probably benign	Het
Astn1	A	G	1: 158,436,890 (GRCm39)	Y824C	probably damaging	Het
Cacna2d3	A	G	14: 28,825,657 (GRCm39)	V506A	possibly damaging	Het
Cdk17	T	G	10: 93,052,229 (GRCm39)	M103R	probably damaging	Het
Clca3a1	T	A	3: 144,455,446 (GRCm39)	E449V	probably damaging	Het
Cux2	A	G	5: 122,007,160 (GRCm39)	Y834H	possibly damaging	Het
Dynlrb2	A	G	8: 117,234,256 (GRCm39)	T7A	possibly damaging	Het
Ggcx	G	A	6: 72,406,976 (GRCm39)	R704Q	probably benign	Het
Gpr87	A	T	3: 59,087,229 (GRCm39)	L92Q	possibly damaging	Het
Grik1	C	T	16: 87,803,355 (GRCm39)	G279E		Het
Igsf10	G	T	3: 59,236,380 (GRCm39)	T1267N	probably damaging	Het
Mrc2	G	T	11: 105,234,333 (GRCm39)	R951L	probably damaging	Het
Muc4	T	A	16: 32,575,764 (GRCm39)	S1755T	unknown	Het
Muc5b	T	C	7: 141,403,292 (GRCm39)	V751A	unknown	Het
Or10a3	A	T	7: 108,480,248 (GRCm39)	C188*	probably null	Het
Or1l4	T	A	2: 37,092,078 (GRCm39)	V275E	probably damaging	Het
Or8u9	T	A	2: 86,002,056 (GRCm39)	Y35F	probably damaging	Het
Pclo	A	G	5: 14,762,975 (GRCm39)	Y531C		Het
Pigr	A	G	1: 130,774,247 (GRCm39)	E409G	probably damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Rsph14	T	A	10: 74,795,493 (GRCm39)	I231F	possibly damaging	Het
Ryr1	A	G	7: 28,708,626 (GRCm39)	S4812P	unknown	Het
Scgb2b24	T	A	7: 33,438,646 (GRCm39)		probably null	Het
Scn2a	T	A	2: 65,594,366 (GRCm39)	H1738Q	probably damaging	Het
Scrib	A	T	15: 75,934,558 (GRCm39)	D678E	probably benign	Het
Slc39a8	T	C	3: 135,590,417 (GRCm39)	F370S	probably damaging	Het
Sphkap	A	T	1: 83,255,279 (GRCm39)	D823E	probably damaging	Het
Srrm3	T	A	5: 135,898,094 (GRCm39)	I555N	unknown	Het
Stx19	A	C	16: 62,642,524 (GRCm39)	E113D	possibly damaging	Het
Tnfsf13	A	G	11: 69,575,983 (GRCm39)	C35R	probably damaging	Het
Tnik	G	A	3: 28,715,927 (GRCm39)	M1180I	possibly damaging	Het
Tnn	C	T	1: 159,950,411 (GRCm39)	A732T	probably damaging	Het
Tpra1	C	T	6: 88,888,699 (GRCm39)	Q294*	probably null	Het
Trim24	G	T	6: 37,935,592 (GRCm39)	S895I	probably benign	Het
Trim68	A	G	7: 102,327,649 (GRCm39)	S435P	probably damaging	Het
Vrtn	C	T	12: 84,696,809 (GRCm39)	R520C	probably damaging	Het
Zfp280d	T	C	9: 72,226,560 (GRCm39)	C335R	probably damaging	Het
Zfp958	G	T	8: 4,663,273 (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
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
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

Predicted Primers

PCR Primer
(F):5'- CAATGGTCTTAATGGAAACCTACAG -3'
(R):5'- TGCACTCAGAATGCTCACAC -3'

Sequencing Primer
(F):5'- CCTGATCTGGTTTAAGCCAA -3'
(R):5'- ACACAACTCCATTCTCGGATTG -3'

Posted On

2020-06-30