Mutagenetix > Incidental Mutation

Incidental Mutation 'R6548:Topaz1'

521373

Institutional Source

Beutler Lab

Gene Symbol

Topaz1

Ensembl Gene

ENSMUSG00000094985

Gene Name

testis and ovary specific PAZ domain containing 1

Synonyms

Gm9524

MMRRC Submission

044673-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R6548 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122576411-122631200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122577419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 110 (C110S)

Ref Sequence

ENSEMBL: ENSMUSP00000136304 (fasta)

Gene Model

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

AlphaFold

E5FYH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178679
AA Change: C110S

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

SMART Domains

Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: C110S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

93% (38/41)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	T	C	10: 43,050,769 (GRCm39)	L21P	probably damaging	Het
Ank3	C	T	10: 69,728,240 (GRCm39)	A642V	probably damaging	Het
Bap1	A	G	14: 30,978,182 (GRCm39)	N349S	probably benign	Het
Brca1	G	T	11: 101,415,591 (GRCm39)	Q32K	probably damaging	Het
Ccdc39	A	T	3: 33,892,108 (GRCm39)	N121K	probably benign	Het
Champ1	A	T	8: 13,930,002 (GRCm39)	N720I	probably damaging	Het
Chd3	T	A	11: 69,252,886 (GRCm39)	R216*	probably null	Het
D630003M21Rik	A	G	2: 158,047,619 (GRCm39)		probably null	Het
Exoc2	A	T	13: 31,010,047 (GRCm39)	V804E	possibly damaging	Het
Fcgbp	A	G	7: 27,791,343 (GRCm39)	N868S	probably benign	Het
Gm10376	T	C	14: 42,873,025 (GRCm39)	M1V	probably null	Het
Gpc2	G	A	5: 138,275,533 (GRCm39)		probably null	Het
Gpr37	G	A	6: 25,688,812 (GRCm39)	T95I	probably benign	Het
Ints3	G	A	3: 90,299,431 (GRCm39)		probably benign	Het
Krt28	T	C	11: 99,257,839 (GRCm39)	E334G	probably damaging	Het
Lrrc75a	T	A	11: 62,496,921 (GRCm39)	T214S	probably damaging	Het
Lyar	A	G	5: 38,385,202 (GRCm39)	I81V	probably benign	Het
Mon2	A	T	10: 122,871,998 (GRCm39)	L342Q	probably damaging	Het
Mug2	C	T	6: 122,024,401 (GRCm39)	A491V	probably damaging	Het
Myh2	A	G	11: 67,077,438 (GRCm39)	T858A	probably benign	Het
Net1	C	T	13: 3,936,074 (GRCm39)		probably null	Het
Or52s1	T	A	7: 102,861,111 (GRCm39)	Y4N	probably benign	Het
Or5p76	T	C	7: 108,122,423 (GRCm39)	T245A	probably benign	Het
Platr25	A	T	13: 62,821,623 (GRCm39)	I110N	possibly damaging	Het
Plk5	T	A	10: 80,198,879 (GRCm39)	L412H	probably damaging	Het
Rasal1	A	T	5: 120,812,790 (GRCm39)	T605S	probably benign	Het
Ryr2	T	A	13: 11,683,707 (GRCm39)	D3119V	probably damaging	Het
Serpina1a	G	T	12: 103,820,017 (GRCm39)	H387N	probably benign	Het
Serpina1d	G	T	12: 103,733,811 (GRCm39)	N164K	probably damaging	Het
Smurf1	A	G	5: 144,836,307 (GRCm39)	Y69H	probably damaging	Het
Sod2	A	G	17: 13,227,250 (GRCm39)	K68R	probably benign	Het
Ssbp2	A	G	13: 91,687,470 (GRCm39)	N51S	possibly damaging	Het
Tcl1b1	A	G	12: 105,130,663 (GRCm39)	R49G	probably benign	Het
Tgfb1	A	G	7: 25,396,350 (GRCm39)	I214M	probably benign	Het
Tln1	A	G	4: 43,547,525 (GRCm39)	I812T	probably damaging	Het
Ubap2l	A	G	3: 89,930,867 (GRCm39)	F393L	probably damaging	Het
Vmn1r62	G	A	7: 5,678,769 (GRCm39)	G150D	probably damaging	Het
Wdr24	C	A	17: 26,046,899 (GRCm39)	Q651K	probably damaging	Het
Wdr7	A	G	18: 63,911,322 (GRCm39)	T905A	possibly damaging	Het
Zfyve26	A	G	12: 79,285,109 (GRCm39)	F2382S	probably damaging	Het

Other mutations in Topaz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0083:Topaz1	UTSW	9	122,604,674 (GRCm39)	missense	probably benign	0.08
R0098:Topaz1	UTSW	9	122,619,188 (GRCm39)	missense	possibly damaging	0.93
R0098:Topaz1	UTSW	9	122,619,188 (GRCm39)	missense	possibly damaging	0.93
R0108:Topaz1	UTSW	9	122,604,674 (GRCm39)	missense	probably benign	0.08
R0220:Topaz1	UTSW	9	122,578,368 (GRCm39)	missense	possibly damaging	0.53
R0519:Topaz1	UTSW	9	122,578,544 (GRCm39)	missense	possibly damaging	0.53
R0617:Topaz1	UTSW	9	122,578,971 (GRCm39)	missense	possibly damaging	0.73
R0637:Topaz1	UTSW	9	122,626,727 (GRCm39)	missense	probably benign
R0637:Topaz1	UTSW	9	122,620,542 (GRCm39)	nonsense	probably null
R1368:Topaz1	UTSW	9	122,577,315 (GRCm39)	missense	possibly damaging	0.72
R1519:Topaz1	UTSW	9	122,596,076 (GRCm39)	missense	probably benign	0.33
R1526:Topaz1	UTSW	9	122,625,108 (GRCm39)	missense	probably damaging	0.98
R1634:Topaz1	UTSW	9	122,609,740 (GRCm39)	splice site	probably benign
R1871:Topaz1	UTSW	9	122,628,544 (GRCm39)	missense	probably benign	0.18
R1879:Topaz1	UTSW	9	122,578,684 (GRCm39)	missense	possibly damaging	0.70
R1913:Topaz1	UTSW	9	122,596,078 (GRCm39)	missense	possibly damaging	0.73
R1977:Topaz1	UTSW	9	122,576,427 (GRCm39)	missense	unknown
R1989:Topaz1	UTSW	9	122,579,190 (GRCm39)	missense	possibly damaging	0.86
R2237:Topaz1	UTSW	9	122,600,212 (GRCm39)	missense	probably benign
R2238:Topaz1	UTSW	9	122,600,212 (GRCm39)	missense	probably benign
R2239:Topaz1	UTSW	9	122,600,212 (GRCm39)	missense	probably benign
R3160:Topaz1	UTSW	9	122,578,446 (GRCm39)	missense	probably benign	0.33
R3161:Topaz1	UTSW	9	122,578,446 (GRCm39)	missense	probably benign	0.33
R3162:Topaz1	UTSW	9	122,578,446 (GRCm39)	missense	probably benign	0.33
R3821:Topaz1	UTSW	9	122,626,848 (GRCm39)	missense	possibly damaging	0.85
R3822:Topaz1	UTSW	9	122,626,848 (GRCm39)	missense	possibly damaging	0.85
R3944:Topaz1	UTSW	9	122,579,669 (GRCm39)	missense	possibly damaging	0.73
R4571:Topaz1	UTSW	9	122,576,501 (GRCm39)	missense	probably benign	0.01
R4580:Topaz1	UTSW	9	122,576,580 (GRCm39)	missense	probably null	0.00
R5043:Topaz1	UTSW	9	122,577,469 (GRCm39)	missense	probably benign
R5084:Topaz1	UTSW	9	122,577,883 (GRCm39)	missense	probably benign	0.04
R5234:Topaz1	UTSW	9	122,619,258 (GRCm39)	missense	possibly damaging	0.82
R5388:Topaz1	UTSW	9	122,603,158 (GRCm39)	missense	possibly damaging	0.96
R5471:Topaz1	UTSW	9	122,620,481 (GRCm39)	splice site	probably null
R5706:Topaz1	UTSW	9	122,628,550 (GRCm39)	missense	possibly damaging	0.53
R5993:Topaz1	UTSW	9	122,578,104 (GRCm39)	missense	probably benign	0.00
R6104:Topaz1	UTSW	9	122,578,931 (GRCm39)	missense	probably benign
R6137:Topaz1	UTSW	9	122,626,821 (GRCm39)	missense	possibly damaging	0.53
R6186:Topaz1	UTSW	9	122,577,891 (GRCm39)	missense	probably benign	0.33
R6209:Topaz1	UTSW	9	122,579,570 (GRCm39)	missense	possibly damaging	0.85
R6543:Topaz1	UTSW	9	122,577,600 (GRCm39)	missense	possibly damaging	0.53
R6557:Topaz1	UTSW	9	122,577,960 (GRCm39)	missense	probably benign	0.02
R6636:Topaz1	UTSW	9	122,578,851 (GRCm39)	missense	probably benign	0.33
R6637:Topaz1	UTSW	9	122,578,851 (GRCm39)	missense	probably benign	0.33
R6859:Topaz1	UTSW	9	122,631,023 (GRCm39)	missense	probably benign	0.33
R7123:Topaz1	UTSW	9	122,577,480 (GRCm39)	missense	probably damaging	1.00
R7180:Topaz1	UTSW	9	122,626,770 (GRCm39)	missense	possibly damaging	0.85
R7319:Topaz1	UTSW	9	122,579,428 (GRCm39)	missense	possibly damaging	0.73
R7743:Topaz1	UTSW	9	122,614,201 (GRCm39)	missense	probably benign	0.16
R7810:Topaz1	UTSW	9	122,578,250 (GRCm39)	missense	probably benign	0.18
R7871:Topaz1	UTSW	9	122,609,765 (GRCm39)	missense	possibly damaging	0.96
R7875:Topaz1	UTSW	9	122,578,652 (GRCm39)	missense	possibly damaging	0.53
R7916:Topaz1	UTSW	9	122,576,499 (GRCm39)	missense	probably benign	0.05
R8116:Topaz1	UTSW	9	122,604,708 (GRCm39)	missense	probably benign	0.00
R8437:Topaz1	UTSW	9	122,610,427 (GRCm39)	nonsense	probably null
R8470:Topaz1	UTSW	9	122,603,173 (GRCm39)	missense	probably benign
R8487:Topaz1	UTSW	9	122,579,001 (GRCm39)	missense	possibly damaging	0.85
R8493:Topaz1	UTSW	9	122,579,573 (GRCm39)	missense	probably benign	0.33
R8919:Topaz1	UTSW	9	122,626,930 (GRCm39)	splice site	probably benign
R8922:Topaz1	UTSW	9	122,625,101 (GRCm39)	missense	possibly damaging	0.51
R9019:Topaz1	UTSW	9	122,619,192 (GRCm39)	missense	possibly damaging	0.52
R9126:Topaz1	UTSW	9	122,625,228 (GRCm39)	missense	probably benign	0.33
R9230:Topaz1	UTSW	9	122,596,097 (GRCm39)	missense	probably benign
R9302:Topaz1	UTSW	9	122,617,887 (GRCm39)	missense	possibly damaging	0.93
R9408:Topaz1	UTSW	9	122,626,728 (GRCm39)	missense	probably benign	0.02
R9469:Topaz1	UTSW	9	122,577,585 (GRCm39)	missense	probably damaging	0.98
R9487:Topaz1	UTSW	9	122,604,707 (GRCm39)	missense	probably benign	0.08
R9557:Topaz1	UTSW	9	122,578,530 (GRCm39)	missense	possibly damaging	0.85
R9564:Topaz1	UTSW	9	122,579,219 (GRCm39)	missense	probably benign	0.33
R9726:Topaz1	UTSW	9	122,603,935 (GRCm39)	critical splice donor site	probably benign
R9726:Topaz1	UTSW	9	122,603,934 (GRCm39)	critical splice donor site	probably benign
X0020:Topaz1	UTSW	9	122,603,134 (GRCm39)	missense	possibly damaging	0.96
Z1176:Topaz1	UTSW	9	122,620,559 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- GGAAAATACAAATGGATGGCTTCAC -3'
(R):5'- GGGGTATTCTTGAACAGTTCATC -3'

Sequencing Primer
(F):5'- ATGGATGGCTTCACAGATTTTTC -3'
(R):5'- TGAACAGTTCATCTTGGAATTCAAC -3'

Posted On

2018-06-06