Mutagenetix > Incidental Mutations

Incidental Mutation 'R7743:Topaz1'

596674

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: 0.115) question?

Stock #

R7743 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122747346-122802135 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122785136 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1207 (H1207R)

Ref Sequence

ENSEMBL: ENSMUSP00000136304 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178679
AA Change: H1207R

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: H1207R

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,068,755	E1235G	probably damaging	Het
Adam6a	A	G	12: 113,544,532	D175G	probably benign	Het
Adgrf4	A	T	17: 42,672,562	C76*	probably null	Het
Agbl3	C	T	6: 34,846,830	T815I	probably damaging	Het
Ahnak2	A	G	12: 112,784,763	V488A	not run	Het
Akip1	T	A	7: 109,711,828	S192T	probably benign	Het
Apc2	G	A	10: 80,304,915	M201I	probably damaging	Het
Arel1	G	T	12: 84,940,269	N124K	probably damaging	Het
Atp10a	A	T	7: 58,803,709	H845L	probably damaging	Het
Atp2a2	A	G	5: 122,461,571	Y586H	probably benign	Het
BC051019	A	G	7: 109,716,059	Y330H	probably damaging	Het
Btbd11	A	T	10: 85,624,949	I569F	possibly damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Chek2	T	G	5: 110,840,050		probably null	Het
Cldn14	A	G	16: 93,919,727	L77S	probably damaging	Het
Cox15	T	C	19: 43,739,941	K298E	possibly damaging	Het
Cpt1b	G	T	15: 89,421,404	D369E	probably benign	Het
Cpxm1	T	C	2: 130,393,422	N550S	probably benign	Het
Csdc2	A	G	15: 81,949,198	E132G	possibly damaging	Het
Cyb5d2	A	T	11: 72,778,876	C219S	probably damaging	Het
Erbb4	T	C	1: 68,328,119	T480A	probably benign	Het
Fndc1	G	A	17: 7,765,137	T1319I	unknown	Het
Gm5773	T	G	3: 93,773,258	V79G	probably damaging	Het
Hsf2	G	A	10: 57,511,335		probably null	Het
Itgb2l	T	C	16: 96,437,408	T64A	probably damaging	Het
Kifc5b	T	C	17: 26,924,202	V316A	probably damaging	Het
Ktn1	A	G	14: 47,670,293	D279G	probably damaging	Het
Lonrf1	T	C	8: 36,249,052	E143G	possibly damaging	Het
Mroh9	C	T	1: 163,024,553	E856K	probably benign	Het
Muc16	T	C	9: 18,657,477	T1249A	unknown	Het
Myh6	G	A	14: 54,957,150	R721W	probably damaging	Het
Myo6	A	T	9: 80,276,329	I669F	unknown	Het
N4bp2	A	G	5: 65,808,459	T1284A	probably damaging	Het
Npr3	A	G	15: 11,905,638	M1T	probably null	Het
Obscn	C	T	11: 59,099,777	V1657M	probably damaging	Het
Olfr243	A	G	7: 103,717,353	E253G	possibly damaging	Het
Olfr551	A	T	7: 102,588,431	F104Y	probably benign	Het
Olfr908	A	G	9: 38,516,328	T99A	possibly damaging	Het
Otud6b	C	A	4: 14,818,389	A171S	possibly damaging	Het
Pdcd2l	A	C	7: 34,192,831	D204E	probably benign	Het
Pdia2	T	C	17: 26,198,868	S56G	probably benign	Het
Plcxd1	G	A	5: 110,102,503	E237K	possibly damaging	Het
Plekha5	A	T	6: 140,555,986	R633S	probably damaging	Het
Pnpla6	T	C	8: 3,536,594	F937L	possibly damaging	Het
Pth2	A	T	7: 45,181,309	M6L	probably benign	Het
Ptprd	T	A	4: 76,086,089	K143I	probably damaging	Het
Rhbdf2	T	C	11: 116,601,601	D487G	probably benign	Het
Rhbdf2	A	T	11: 116,603,949	D300E	probably benign	Het
Rock2	G	A	12: 16,976,047	V1265I	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGAGGC	7: 97,579,932		probably benign	Het
Rtn4	T	A	11: 29,733,790	Y1027*	probably null	Het
Rxfp3	A	G	15: 11,037,130	L52P	probably damaging	Het
Sel1l3	A	G	5: 53,135,885	Y830H	probably benign	Het
Serpinb3d	C	T	1: 107,079,358	V207I	probably damaging	Het
Sipa1l2	T	C	8: 125,464,233	E1006G	probably damaging	Het
Slc22a19	C	T	19: 7,683,836	M324I	possibly damaging	Het
Slc37a1	T	A	17: 31,316,185	F106I	probably damaging	Het
Snx14	A	T	9: 88,398,349	S518T	probably benign	Het
Sp2	T	C	11: 96,961,109	T330A	probably damaging	Het
Spata13	A	T	14: 60,756,249	H1050L	probably damaging	Het
Sptssa	A	C	12: 54,656,416	V23G	possibly damaging	Het
Syt3	A	T	7: 44,392,667	I317F	probably damaging	Het
Tars	A	C	15: 11,399,372		probably null	Het
Tead3	T	A	17: 28,332,827	T431S	probably benign	Het
Tiam2	G	A	17: 3,518,156	E1526K	possibly damaging	Het
Tnni3	G	A	7: 4,521,892	P12L	probably benign	Het
Trdn	G	T	10: 33,257,062	E107*	probably null	Het
Trp63	A	G	16: 25,882,625	N483S	probably benign	Het
Trpm4	A	G	7: 45,308,338	S1009P	probably benign	Het
Trpm6	T	C	19: 18,827,408	V908A	probably benign	Het
Tsen34	A	T	7: 3,694,602	M25L	possibly damaging	Het
Ttn	T	C	2: 76,951,483	E1073G	unknown	Het
Uaca	A	T	9: 60,876,395	I1380F	probably damaging	Het
Ubr3	A	G	2: 69,944,449	T539A	probably benign	Het
Ugt1a5	T	A	1: 88,166,395	M115K	probably benign	Het
Unc45b	A	T	11: 82,922,900	I378F	probably damaging	Het
Unk	G	A	11: 116,049,436	R205Q	possibly damaging	Het
Ush2a	T	A	1: 188,810,179	L3314Q	probably benign	Het
Vezt	A	G	10: 93,980,424	L475P	probably damaging	Het
Vmn2r115	C	T	17: 23,345,798	Q220*	probably null	Het
Yap1	T	C	9: 7,962,378	Q223R	probably benign	Het
Zdhhc7	G	A	8: 120,086,728	T114M	possibly damaging	Het
Zwilch	A	C	9: 64,152,935	C374G	probably damaging	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	splice site	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
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
R7810:Topaz1	UTSW	9	122749185	missense	probably benign	0.18
R7871:Topaz1	UTSW	9	122780700	missense	possibly damaging	0.96
R7875:Topaz1	UTSW	9	122749587	missense	possibly damaging	0.53
R7916:Topaz1	UTSW	9	122747434	missense	probably benign	0.05
R8116:Topaz1	UTSW	9	122775643	missense	probably benign	0.00
R8437:Topaz1	UTSW	9	122781362	nonsense	probably null
R8470:Topaz1	UTSW	9	122774108
R8487:Topaz1	UTSW	9	122749936
R8493:Topaz1	UTSW	9	122750508
X0020:Topaz1	UTSW	9	122774069	missense	possibly damaging	0.96
Z1176:Topaz1	UTSW	9	122791494	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- ACTCCTGCTGCCAATGTCTTAG -3'
(R):5'- GCAGTTAAGTGAGGTTCTCAGC -3'

Sequencing Primer
(F):5'- TGCTGCCAATGTCTTAGTTATTTC -3'
(R):5'- TCTCAGCAGAGTCAGATTCAGGTC -3'

Posted On

2019-11-26