Mutagenetix > Incidental Mutation

Incidental Mutation 'R6633:Tex30'

525266

Institutional Source

Beutler Lab

Gene Symbol

Tex30

Ensembl Gene

ENSMUSG00000026049

Gene Name

testis expressed 30

Synonyms

1700029F09Rik, 3110030D08Rik

MMRRC Submission

044755-MU

Accession Numbers

Essential gene?

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

Stock #

R6633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44125773-44141601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 44127084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 64 (H64Q)

Ref Sequence

ENSEMBL: ENSMUSP00000119648 (fasta)

Gene Model

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

AlphaFold

Q3TUU5

Predicted Effect

probably benign
Transcript: ENSMUST00000027215
AA Change: H141Q

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000027215
Gene: ENSMUSG00000026049
AA Change: H141Q

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: H141Q

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117565
Gene: ENSMUSG00000026049
AA Change: H141Q

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
AA Change: H39Q

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115464
Gene: ENSMUSG00000026049
AA Change: H39Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133677
AA Change: H141Q

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000115068
Gene: ENSMUSG00000026049
AA Change: H141Q

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: ENSMUST00000147571
AA Change: H141Q

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000114624
Gene: ENSMUSG00000026049
AA Change: H141Q

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: ENSMUST00000147661
AA Change: H64Q

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000150911
AA Change: H141Q

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000120928
Gene: ENSMUSG00000026049
AA Change: H141Q

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: ENSMUST00000152239
AA Change: H141Q

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000114991
Gene: ENSMUSG00000026049
AA Change: H141Q

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: H141Q

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000121035
Gene: ENSMUSG00000026049
AA Change: H141Q

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: ENSMUST00000149502

SMART Domains

Protein: ENSMUSP00000115939
Gene: ENSMUSG00000026049

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148542

Predicted Effect

probably benign
Transcript: ENSMUST00000143327

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	C	A	11: 84,402,308 (GRCm39)		probably null	Het
Acot7	C	T	4: 152,262,716 (GRCm39)	P30L	probably benign	Het
Adam24	T	G	8: 41,133,526 (GRCm39)	D331E	probably benign	Het
Adamdec1	T	C	14: 68,810,601 (GRCm39)	D185G	probably benign	Het
Adgrg7	T	C	16: 56,550,649 (GRCm39)	I688V	probably benign	Het
Adgrv1	A	T	13: 81,716,762 (GRCm39)	F779I	probably damaging	Het
Agtr1a	A	G	13: 30,565,450 (GRCm39)	I172V	probably benign	Het
Anapc4	C	T	5: 53,023,288 (GRCm39)	H710Y	possibly damaging	Het
Arf1	T	C	11: 59,103,370 (GRCm39)	N179S	probably benign	Het
Arhgef40	C	T	14: 52,234,888 (GRCm39)	P1064S	probably damaging	Het
Btnl1	A	G	17: 34,604,305 (GRCm39)	N362S	possibly damaging	Het
Ccdc80	T	C	16: 44,915,271 (GRCm39)	F9S	possibly damaging	Het
Ccdc96	G	A	5: 36,642,533 (GRCm39)	E180K	probably benign	Het
Cdh2	A	T	18: 16,773,605 (GRCm39)	N241K	probably benign	Het
Cdk8	C	A	5: 146,235,656 (GRCm39)	S261*	probably null	Het
Csf2rb2	T	C	15: 78,173,152 (GRCm39)	E236G	probably benign	Het
Dgcr8	A	T	16: 18,102,046 (GRCm39)	S79T	possibly damaging	Het
Dnah5	A	T	15: 28,293,933 (GRCm39)	Y1346F	probably benign	Het
Dock6	A	G	9: 21,731,627 (GRCm39)	V1194A	probably benign	Het
Dock6	A	G	9: 21,732,799 (GRCm39)	S1129P	probably damaging	Het
Ephb2	C	G	4: 136,411,307 (GRCm39)	S451T	probably benign	Het
Esco1	T	A	18: 10,595,738 (GRCm39)		probably benign	Het
Fcer1a	C	G	1: 173,054,293 (GRCm39)		probably null	Het
Gbx2	TCCCCC	TCCCCCC	1: 89,856,442 (GRCm39)		probably null	Het
Gm44511	T	A	6: 128,803,205 (GRCm39)	D2V	probably damaging	Het
H2-Q2	A	G	17: 35,561,363 (GRCm39)	T19A	probably damaging	Het
Herc1	G	T	9: 66,346,534 (GRCm39)	E1967*	probably null	Het
Hic1	G	T	11: 75,060,324 (GRCm39)	H8N	unknown	Het
Irx4	G	T	13: 73,416,545 (GRCm39)	A314S	probably benign	Het
Jarid2	C	A	13: 45,038,353 (GRCm39)	H84N	probably damaging	Het
Klk1b27	A	T	7: 43,705,234 (GRCm39)	I134F	probably damaging	Het
Kprp	T	C	3: 92,732,600 (GRCm39)	Y150C	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lrp10	T	C	14: 54,706,531 (GRCm39)	V489A	probably benign	Het
Mrgpra6	A	G	7: 46,838,493 (GRCm39)	I235T	possibly damaging	Het
Naip1	A	G	13: 100,559,584 (GRCm39)	M1140T	probably benign	Het
Naip1	C	T	13: 100,559,593 (GRCm39)	R1137Q	probably benign	Het
Or4c12	T	C	2: 89,773,710 (GRCm39)	I250V	probably benign	Het
Plcl2	A	G	17: 50,947,168 (GRCm39)	I1016V	probably benign	Het
Plekhb1	A	G	7: 100,294,846 (GRCm39)	Y122H	probably damaging	Het
Polr2a	A	G	11: 69,626,339 (GRCm39)	S1604P	possibly damaging	Het
Ppp6r2	G	A	15: 89,137,458 (GRCm39)		probably null	Het
Rag1	T	A	2: 101,473,055 (GRCm39)	R696W	probably damaging	Het
Rusc2	T	C	4: 43,414,852 (GRCm39)	F53L	probably damaging	Het
Rxylt1	G	A	10: 121,932,958 (GRCm39)	R7W	probably damaging	Het
Tango6	T	C	8: 107,444,637 (GRCm39)	V514A	probably benign	Het
Tmbim7	A	G	5: 3,707,659 (GRCm39)		probably null	Het
Tpcn1	A	G	5: 120,682,529 (GRCm39)	M493T	probably benign	Het
Tpx2	T	G	2: 152,709,274 (GRCm39)	F35V	probably damaging	Het
Vmn1r3	G	A	4: 3,184,971 (GRCm39)	T112I	probably benign	Het
Wnt2b	T	C	3: 104,858,372 (GRCm39)	Y299C	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TGTACTCCAAACAGTAGACAAATGC -3'
(R):5'- ACTGTAGGTTTCCATTAAGACCATTGG -3'

Sequencing Primer
(F):5'- AGCTGGTCTTGAACTCACAG -3'
(R):5'- ACCATTGGAATTTGTTGGTTGACAC -3'

Posted On

2018-06-22