Mutagenetix > Incidental Mutations

Incidental Mutation 'R5706:Topaz1'

451981

Institutional Source

Beutler Lab

Gene Symbol

Topaz1

Ensembl Gene

ENSMUSG00000094985

Gene Name

testis and ovary specific PAZ domain containing 1

Synonyms

Gm9524

MMRRC Submission

043331-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5706 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122747346-122802135 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122799485 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1546 (I1546F)

Ref Sequence

ENSEMBL: ENSMUSP00000136304 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178679
AA Change: I1546F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: I1546F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,054,261	M77K	probably benign	Het
Amy1	A	G	3: 113,556,120	V467A	probably damaging	Het
Atf4	T	C	15: 80,256,330	V11A	possibly damaging	Het
B4galt1	T	C	4: 40,807,268	N373D	probably damaging	Het
Bpifa3	A	G	2: 154,135,578	K112R	probably damaging	Het
Chd2	T	A	7: 73,491,357	Y596F	possibly damaging	Het
Clspn	T	C	4: 126,578,418	S962P	probably damaging	Het
Cyp2c68	T	C	19: 39,734,318	D262G	possibly damaging	Het
Dcaf11	T	C	14: 55,565,695	I282T	probably damaging	Het
Dmxl1	T	C	18: 49,957,395		probably null	Het
Dnah11	T	G	12: 118,023,935	K2411Q	probably damaging	Het
Elf3	A	G	1: 135,256,482	V196A	probably benign	Het
Fhad1	T	G	4: 141,954,116	T538P	probably damaging	Het
Fkbp10	A	G	11: 100,421,023	D174G	probably damaging	Het
Gas6	A	G	8: 13,477,098	S217P	probably damaging	Het
Gm4778	T	A	3: 94,266,652	H322Q	possibly damaging	Het
Heatr5b	C	T	17: 78,766,875		probably null	Het
Iqgap3	A	G	3: 88,115,908	E502G	probably benign	Het
Klc1	T	C	12: 111,795,627	V577A	possibly damaging	Het
Lck	T	C	4: 129,551,638		probably null	Het
Mc3r	C	A	2: 172,249,690	Y277*	probably null	Het
Mlxipl	T	C	5: 135,133,604	V640A	probably benign	Het
Mrc2	A	T	11: 105,332,343	N471Y	probably damaging	Het
Ncan	T	A	8: 70,102,017	H1050L	probably damaging	Het
Nrl	C	A	14: 55,522,432	V13F	probably damaging	Het
Obscn	T	A	11: 59,076,256	Y546F	probably damaging	Het
Olfr214	A	G	6: 116,557,113	I229M	probably damaging	Het
Olfr654	T	G	7: 104,587,890	S46A	probably benign	Het
Olfr799	A	G	10: 129,648,091		probably null	Het
Pde3b	G	A	7: 114,521,692	G684D	probably damaging	Het
Prkaa1	C	T	15: 5,174,342	T244I	probably benign	Het
Scfd2	A	T	5: 74,206,398		probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Smg1	A	T	7: 118,145,590	V3113D	possibly damaging	Het
Sorbs1	T	C	19: 40,376,881	T153A	probably benign	Het
Spag16	A	G	1: 69,870,289	T182A	probably benign	Het
Svs2	T	C	2: 164,237,669	K106R	possibly damaging	Het
Tenm1	A	G	X: 43,074,695	V107A	possibly damaging	Het
Tubgcp2	C	A	7: 140,032,225	E78*	probably null	Het
Vars	A	G	17: 35,005,481		probably null	Het
Vmn2r109	A	T	17: 20,554,305	W263R	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
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
R6636:Topaz1	UTSW	9	122749786	missense	probably benign	0.33
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'- GCAGTGTCAAATTGTCAAGATGC -3'
(R):5'- CTATAGGGCAGGCATAGAGC -3'

Sequencing Primer
(F):5'- ATAGCTACCCTGACCTGTAAGTGG -3'
(R):5'- CAGGCATAGAGCTGCATCTATGTTC -3'

Posted On

2017-01-03