Mutagenetix > Incidental Mutations

Incidental Mutation 'R6636:Topaz1'

525469

Institutional Source

Beutler Lab

Gene Symbol

Topaz1

Ensembl Gene

ENSMUSG00000094985

Gene Name

testis and ovary specific PAZ domain containing 1

Synonyms

Gm9524

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R6636 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122747346-122802135 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122749786 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 587 (Q587L)

Ref Sequence

ENSEMBL: ENSMUSP00000136304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178679]

Predicted Effect

probably benign
Transcript: ENSMUST00000178679
AA Change: Q587L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: Q587L

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	27	39	N/A	INTRINSIC
low complexity region	236	251	N/A	INTRINSIC
low complexity region	531	545	N/A	INTRINSIC
low complexity region	821	832	N/A	INTRINSIC
low complexity region	1129	1139	N/A	INTRINSIC
Pfam:Asp_Glu_race_2	1189	1422	3.6e-157	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213519

Meta Mutation Damage Score

0.0908

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.8%

Validation Efficiency

98% (41/42)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with abnormal meiosis and apoptosis of male germ cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	G	15: 64,787,402	V513A	probably damaging	Het
Adgrl4	G	A	3: 151,517,773	W621*	probably null	Het
Ap4m1	A	G	5: 138,172,175		probably benign	Het
Atp6v1b2	T	C	8: 69,101,374	Y68H	probably damaging	Het
AY761185	T	A	8: 20,944,540		probably null	Het
C3ar1	T	C	6: 122,851,054	D68G	probably damaging	Het
Cdh10	A	T	15: 18,985,173	I308F	probably damaging	Het
Coq8a	A	T	1: 180,178,987	S112T	probably benign	Het
Diexf	A	T	1: 193,113,767	F197I	probably damaging	Het
Dmgdh	A	T	13: 93,709,198	E453D	probably benign	Het
Fryl	C	A	5: 73,133,312	R83L	probably benign	Het
Gm4861	C	T	3: 137,550,999		probably null	Het
Gnai1	T	C	5: 18,273,474	D231G	probably damaging	Het
Hfe	C	G	13: 23,706,795	E120D	possibly damaging	Het
Hfe	T	C	13: 23,706,796	E120G	possibly damaging	Het
Hgd	A	G	16: 37,615,374	N149S	possibly damaging	Het
Kcnb1	T	C	2: 167,105,854	D358G	probably damaging	Het
Lama2	C	A	10: 27,124,568	V1653L	probably benign	Het
Lamc1	A	T	1: 153,241,975	I947N	possibly damaging	Het
Lamp3	A	G	16: 19,701,233	F67L	probably benign	Het
Ltbp2	T	C	12: 84,875,838	I132V	probably benign	Het
Muc4	C	T	16: 32,753,964	P1280L	probably benign	Het
Muc5ac	T	C	7: 141,818,605	Y2659H	possibly damaging	Het
Nmbr	T	C	10: 14,770,234	S168P	probably benign	Het
Nsl1	A	G	1: 191,075,127	T168A	probably benign	Het
Olfr1197	T	C	2: 88,728,841	I253V	probably benign	Het
Olfr130	G	A	17: 38,067,224	D18N	probably damaging	Het
Olfr1467	T	C	19: 13,365,225	V199A	probably benign	Het
Olfr284	A	G	15: 98,340,950	F13S	probably benign	Het
Pde1c	A	C	6: 56,180,102	V191G	probably damaging	Het
Proc	T	A	18: 32,123,760	I285F	probably benign	Het
R3hdm1	GAA	GAAA	1: 128,162,811		probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Spa17	A	T	9: 37,611,974	S6T	probably benign	Het
Spp1	T	C	5: 104,440,530	V267A	possibly damaging	Het
Stk17b	A	T	1: 53,761,088	Y244N	probably damaging	Het
Tal1	A	G	4: 115,068,592	N286S	probably damaging	Het
Tgm7	T	A	2: 121,101,090	R197S	probably damaging	Het
Tmcc3	T	A	10: 94,578,424	V27E	probably benign	Het
Trim33	C	T	3: 103,353,719	A1061V	probably damaging	Het
Ttll1	C	G	15: 83,499,946	W160S	probably damaging	Het
Wnt7a	A	G	6: 91,394,558	Y141H	probably benign	Het

Other mutations in Topaz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0083:Topaz1	UTSW	9	122775609	missense	probably benign	0.08
R0098:Topaz1	UTSW	9	122790123	missense	possibly damaging	0.93
R0098:Topaz1	UTSW	9	122790123	missense	possibly damaging	0.93
R0108:Topaz1	UTSW	9	122775609	missense	probably benign	0.08
R0220:Topaz1	UTSW	9	122749303	missense	possibly damaging	0.53
R0519:Topaz1	UTSW	9	122749479	missense	possibly damaging	0.53
R0617:Topaz1	UTSW	9	122749906	missense	possibly damaging	0.73
R0637:Topaz1	UTSW	9	122791477	nonsense	probably null
R0637:Topaz1	UTSW	9	122797662	missense	probably benign
R1368:Topaz1	UTSW	9	122748250	missense	possibly damaging	0.72
R1519:Topaz1	UTSW	9	122767011	missense	probably benign	0.33
R1526:Topaz1	UTSW	9	122796043	missense	probably damaging	0.98
R1634:Topaz1	UTSW	9	122780675	splice site	probably benign
R1871:Topaz1	UTSW	9	122799479	missense	probably benign	0.18
R1879:Topaz1	UTSW	9	122749619	missense	possibly damaging	0.70
R1913:Topaz1	UTSW	9	122767013	missense	possibly damaging	0.73
R1977:Topaz1	UTSW	9	122747362	missense	unknown
R1989:Topaz1	UTSW	9	122750125	missense	possibly damaging	0.86
R2237:Topaz1	UTSW	9	122771147	missense	probably benign
R2238:Topaz1	UTSW	9	122771147	missense	probably benign
R2239:Topaz1	UTSW	9	122771147	missense	probably benign
R3160:Topaz1	UTSW	9	122749381	missense	probably benign	0.33
R3161:Topaz1	UTSW	9	122749381	missense	probably benign	0.33
R3162:Topaz1	UTSW	9	122749381	missense	probably benign	0.33
R3821:Topaz1	UTSW	9	122797783	missense	possibly damaging	0.85
R3822:Topaz1	UTSW	9	122797783	missense	possibly damaging	0.85
R3944:Topaz1	UTSW	9	122750604	missense	possibly damaging	0.73
R4571:Topaz1	UTSW	9	122747436	missense	probably benign	0.01
R4580:Topaz1	UTSW	9	122747515	missense	probably null	0.00
R5043:Topaz1	UTSW	9	122748404	missense	probably benign
R5084:Topaz1	UTSW	9	122748818	missense	probably benign	0.04
R5234:Topaz1	UTSW	9	122790193	missense	possibly damaging	0.82
R5388:Topaz1	UTSW	9	122774093	missense	possibly damaging	0.96
R5471:Topaz1	UTSW	9	122791416	intron	probably null
R5706:Topaz1	UTSW	9	122799485	missense	possibly damaging	0.53
R5993:Topaz1	UTSW	9	122749039	missense	probably benign	0.00
R6104:Topaz1	UTSW	9	122749866	missense	probably benign
R6137:Topaz1	UTSW	9	122797756	missense	possibly damaging	0.53
R6186:Topaz1	UTSW	9	122748826	missense	probably benign	0.33
R6209:Topaz1	UTSW	9	122750505	missense	possibly damaging	0.85
R6543:Topaz1	UTSW	9	122748535	missense	possibly damaging	0.53
R6548:Topaz1	UTSW	9	122748354	missense	possibly damaging	0.53
R6557:Topaz1	UTSW	9	122748895	missense	probably benign	0.02
R6637:Topaz1	UTSW	9	122749786	missense	probably benign	0.33
R6859:Topaz1	UTSW	9	122801958	missense	probably benign	0.33
R7123:Topaz1	UTSW	9	122748415	missense	probably damaging	1.00
R7180:Topaz1	UTSW	9	122797705	missense	possibly damaging	0.85
R7319:Topaz1	UTSW	9	122750363	missense	possibly damaging	0.73
R7743:Topaz1	UTSW	9	122785136	missense	probably benign	0.16
R7810:Topaz1	UTSW	9	122749185	missense	probably benign	0.18
X0020:Topaz1	UTSW	9	122774069	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGAAAGAACTACTGAGTCCTCAAG -3'
(R):5'- TTTAAAATTAGTCAGCCGTCCCG -3'

Sequencing Primer
(F):5'- CTACTGAGTCCTCAAGAAAAGAAATG -3'
(R):5'- AGCCGTCCCGTGTTTAATATTTTAAC -3'

Posted On

2018-06-22