Mutagenetix > Incidental Mutation

Incidental Mutation 'R5471:Topaz1'

433821

Institutional Source

Beutler Lab

Gene Symbol

Topaz1

Ensembl Gene

ENSMUSG00000094985

Gene Name

testis and ovary specific PAZ domain containing 1

Synonyms

Gm9524

MMRRC Submission

043032-MU

Accession Numbers

Essential gene?

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

Stock #

R5471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122576411-122631200 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 122620481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136304 (fasta)

Gene Model

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

AlphaFold

E5FYH1

Predicted Effect

probably null
Transcript: ENSMUST00000178679

SMART Domains

Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985

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

0.9755

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.5%

Validation Efficiency

96% (67/70)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	C	T	7: 119,259,829 (GRCm39)	H493Y	probably damaging	Het
Alox12e	T	C	11: 70,210,850 (GRCm39)	I290V	probably benign	Het
Ankfy1	T	A	11: 72,619,617 (GRCm39)	N163K	probably benign	Het
Baiap2l1	T	G	5: 144,218,951 (GRCm39)	N219T	probably benign	Het
Cd72	T	C	4: 43,448,345 (GRCm39)	I312V	probably benign	Het
Cfap54	A	T	10: 92,864,522 (GRCm39)	M139K	probably damaging	Het
Clec4n	T	A	6: 123,209,145 (GRCm39)	M70K	probably benign	Het
Cmklr2	A	C	1: 63,223,058 (GRCm39)	V59G	probably damaging	Het
Cwh43	T	A	5: 73,565,574 (GRCm39)	C46*	probably null	Het
Cyp1a2	A	T	9: 57,586,303 (GRCm39)	I405N	probably damaging	Het
Dlc1	G	T	8: 37,051,879 (GRCm39)	S617R	probably benign	Het
Eif2ak4	A	G	2: 118,304,613 (GRCm39)	N1546S	probably benign	Het
Elmo1	A	G	13: 20,756,555 (GRCm39)	I548V	probably benign	Het
Exoc6	A	G	19: 37,588,065 (GRCm39)	D566G	probably benign	Het
Fam20b	T	C	1: 156,533,299 (GRCm39)	T106A	probably damaging	Het
Fam83h	T	C	15: 75,874,752 (GRCm39)	T862A	probably benign	Het
Fgfr1op2	A	T	6: 146,498,860 (GRCm39)		probably null	Het
Gcnt2	A	G	13: 41,014,195 (GRCm39)	Y122C	probably damaging	Het
Gm11992	A	T	11: 9,018,333 (GRCm39)		probably null	Het
Gm5114	C	A	7: 39,058,534 (GRCm39)	E362*	probably null	Het
Gm815	A	G	19: 26,865,769 (GRCm39)	T96A	unknown	Het
Gm8674	A	G	13: 50,054,849 (GRCm39)		noncoding transcript	Het
Gnat3	T	A	5: 18,196,322 (GRCm39)	I56N	probably damaging	Het
Igkv1-133	T	C	6: 67,702,531 (GRCm39)	V83A	probably benign	Het
Mrgprb8	T	A	7: 48,038,471 (GRCm39)	N47K	probably damaging	Het
Nav2	A	G	7: 49,197,917 (GRCm39)	D1182G	probably damaging	Het
Neto2	T	C	8: 86,367,389 (GRCm39)	T480A	probably benign	Het
Npnt	T	G	3: 132,620,148 (GRCm39)	N115T	probably benign	Het
Nr1h5	T	C	3: 102,856,442 (GRCm39)	N279S	possibly damaging	Het
Ntrk2	T	C	13: 59,019,574 (GRCm39)	V395A	probably benign	Het
Or2ak6	T	C	11: 58,593,151 (GRCm39)	L208S	probably damaging	Het
Or5ac23	T	G	16: 59,148,994 (GRCm39)	N293H	probably damaging	Het
Or6c1	A	G	10: 129,517,925 (GRCm39)	S228P	probably damaging	Het
Padi2	A	G	4: 140,660,519 (GRCm39)	K333R	possibly damaging	Het
Pira1	T	A	7: 3,738,514 (GRCm39)	I621F	probably benign	Het
Ptgis	C	A	2: 167,066,039 (GRCm39)	M130I	probably benign	Het
Ptpn4	A	T	1: 119,693,649 (GRCm39)	Y124*	probably null	Het
Saal1	C	T	7: 46,349,072 (GRCm39)	V281M	probably benign	Het
Saxo1	G	A	4: 86,363,961 (GRCm39)	T174I	probably damaging	Het
Slc7a12	G	A	3: 14,545,935 (GRCm39)	V27M	probably damaging	Het
Slco4c1	C	A	1: 96,799,770 (GRCm39)	R22L	probably benign	Het
Slfn9	T	G	11: 82,873,613 (GRCm39)	Q430P	possibly damaging	Het
Slit2	T	A	5: 48,346,897 (GRCm39)	N246K	probably damaging	Het
Stox2	G	T	8: 47,646,548 (GRCm39)	T304K	probably damaging	Het
Tmem87b	T	G	2: 128,693,240 (GRCm39)	F542V	possibly damaging	Het
Trappc12	G	A	12: 28,741,499 (GRCm39)	R737W	probably damaging	Het
Trim9	A	G	12: 70,393,566 (GRCm39)	I126T	possibly damaging	Het
Txnl1	A	G	18: 63,809,997 (GRCm39)	C149R	probably damaging	Het
Ubald1	G	A	16: 4,693,705 (GRCm39)	T70M	probably damaging	Het
Vash1	G	A	12: 86,735,902 (GRCm39)	V263M	possibly damaging	Het
Vsx1	T	C	2: 150,524,986 (GRCm39)	T343A	probably benign	Het
Zfp397	A	G	18: 24,093,081 (GRCm39)	N189D	probably benign	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
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'- TCTGTAAACGGTCAGAGAGTAACTC -3'
(R):5'- AGGATGACTCCATGTCCTGTTCC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CACAGCAACAGTCTGTGA -3'

Posted On

2016-10-06