Mutagenetix > Incidental Mutation

Incidental Mutation 'R3822:Topaz1'

275233

Institutional Source

Beutler Lab

Gene Symbol

Topaz1

Ensembl Gene

ENSMUSG00000094985

Gene Name

testis and ovary specific PAZ domain containing 1

Synonyms

Gm9524

MMRRC Submission

040884-MU

Accession Numbers

Essential gene?

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

Stock #

R3822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122576411-122631200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122626848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1492 (D1492G)

Ref Sequence

ENSEMBL: ENSMUSP00000136304 (fasta)

Gene Model

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

AlphaFold

E5FYH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178679
AA Change: D1492G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: D1492G

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

Meta Mutation Damage Score

0.1001

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (34/34)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	A	11: 101,301,971 (GRCm39)	I332F	probably damaging	Het
Acp3	G	T	9: 104,201,916 (GRCm39)	Q76K	probably damaging	Het
Anp32e	A	T	3: 95,842,181 (GRCm39)	I100L	probably benign	Het
Ccdc13	C	A	9: 121,660,085 (GRCm39)	L76F	probably damaging	Het
Cd44	T	C	2: 102,731,738 (GRCm39)		probably null	Het
Chka	A	G	19: 3,932,038 (GRCm39)		probably benign	Het
Cnot6	A	T	11: 49,579,999 (GRCm39)	S98T	probably benign	Het
Cth	A	G	3: 157,624,136 (GRCm39)	F127S	probably benign	Het
Dnah9	C	A	11: 65,741,829 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,184,070 (GRCm39)		probably benign	Het
Flad1	T	A	3: 89,318,494 (GRCm39)	I20F	probably damaging	Het
Gm20730	C	T	6: 43,058,656 (GRCm39)	S52N	probably benign	Het
Gpr89	A	G	3: 96,800,260 (GRCm39)	S113P	probably benign	Het
Herpud2	G	A	9: 25,036,220 (GRCm39)	Q147*	probably null	Het
Hivep1	A	T	13: 42,337,787 (GRCm39)	H2622L	possibly damaging	Het
Hlcs	T	C	16: 94,068,840 (GRCm39)	N274D	probably benign	Het
Ido2	T	C	8: 25,023,771 (GRCm39)	I356V	probably benign	Het
Insyn2b	T	C	11: 34,353,007 (GRCm39)	S350P	probably benign	Het
Itgam	A	G	7: 127,711,458 (GRCm39)		probably null	Het
Lama1	C	A	17: 68,086,041 (GRCm39)		probably null	Het
Lrrc4b	T	A	7: 44,111,982 (GRCm39)	V618E	probably damaging	Het
Man1a2	A	G	3: 100,539,913 (GRCm39)	I176T	possibly damaging	Het
Mns1	A	G	9: 72,346,730 (GRCm39)	E71G	probably damaging	Het
Ncoa6	T	A	2: 155,248,858 (GRCm39)	N1482I	probably damaging	Het
Neto2	C	A	8: 86,389,924 (GRCm39)	E180*	probably null	Het
Psmb7	A	T	2: 38,503,440 (GRCm39)		probably benign	Het
Rin2	C	T	2: 145,664,550 (GRCm39)	T60M	probably benign	Het
Slc28a3	A	G	13: 58,706,092 (GRCm39)	V639A	probably benign	Het
Tenm2	A	T	11: 35,915,147 (GRCm39)	I2129N	probably damaging	Het
Trank1	G	A	9: 111,207,887 (GRCm39)	G1711R	probably damaging	Het
Trpm1	A	G	7: 63,867,451 (GRCm39)		probably benign	Het
Ugt1a6a	T	A	1: 88,066,251 (GRCm39)	V19E	probably benign	Het
Vmn2r60	A	T	7: 41,785,125 (GRCm39)	E112D	probably damaging	Het
Wdr4	T	G	17: 31,731,195 (GRCm39)	Q55P	probably damaging	Het
Xpnpep1	G	A	19: 52,992,250 (GRCm39)		probably benign	Het
Zfyve16	A	T	13: 92,657,769 (GRCm39)	L714Q	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
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
R6548:Topaz1	UTSW	9	122,577,419 (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'- TCGGTGAGTCTGACTTCTGC -3'
(R):5'- TGTCTGCCTCTGAATATTACCAAC -3'

Sequencing Primer
(F):5'- AGTCTGACTTCTGCAATGGAGAG -3'
(R):5'- GATGGATCCTGGATTAGAGAAT -3'

Posted On

2015-04-02