Mutagenetix > Incidental Mutation

Incidental Mutation 'R6104:Topaz1'

485433

Institutional Source

Beutler Lab

Gene Symbol

Topaz1

Ensembl Gene

ENSMUSG00000094985

Gene Name

testis and ovary specific PAZ domain containing 1

Synonyms

Gm9524

MMRRC Submission

044254-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R6104 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122576411-122631200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122578931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 614 (T614A)

Ref Sequence

ENSEMBL: ENSMUSP00000136304 (fasta)

Gene Model

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

AlphaFold

E5FYH1

Predicted Effect

probably benign
Transcript: ENSMUST00000178679
AA Change: T614A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: T614A

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	T	4: 106,613,094 (GRCm39)	L327Q	probably damaging	Het
Atrip	C	T	9: 108,894,632 (GRCm39)	A432T	possibly damaging	Het
Chd6	T	C	2: 160,856,052 (GRCm39)	T736A	probably damaging	Het
Cyp1b1	T	A	17: 80,017,634 (GRCm39)	Y507F	probably damaging	Het
Desi2	G	A	1: 178,077,018 (GRCm39)	R174H	probably benign	Het
Dop1a	A	T	9: 86,402,860 (GRCm39)	K1351N	possibly damaging	Het
Fads2b	T	A	2: 85,338,693 (GRCm39)	K149*	probably null	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Fzd2	T	C	11: 102,497,161 (GRCm39)	I535T	probably damaging	Het
Gpr15	A	G	16: 58,538,339 (GRCm39)	F250S	probably damaging	Het
Grm6	T	A	11: 50,750,144 (GRCm39)	I466N	possibly damaging	Het
Il17a	A	G	1: 20,802,498 (GRCm39)	Y69C	probably damaging	Het
Itgam	A	G	7: 127,715,474 (GRCm39)	D938G	possibly damaging	Het
Kmt2c	T	C	5: 25,504,127 (GRCm39)	D316G	probably benign	Het
Lrba	C	A	3: 86,261,099 (GRCm39)	A1485E	probably damaging	Het
Marf1	G	A	16: 13,935,319 (GRCm39)	T1483I	probably damaging	Het
Myo18b	T	C	5: 113,022,157 (GRCm39)		probably benign	Het
Myo5b	T	A	18: 74,833,750 (GRCm39)	I842N	probably benign	Het
Nckap5l	C	T	15: 99,321,869 (GRCm39)	S1092N	probably benign	Het
Nelfcd	T	C	2: 174,265,250 (GRCm39)	S273P	probably damaging	Het
Nt5c1b	A	G	12: 10,422,955 (GRCm39)	N83D	probably damaging	Het
Oas3	T	A	5: 120,899,758 (GRCm39)	I709F	unknown	Het
Or1p1	C	A	11: 74,180,192 (GRCm39)	T240N	probably damaging	Het
Or8i2	T	C	2: 86,852,057 (GRCm39)	Y277C	probably damaging	Het
Pogz	A	G	3: 94,787,342 (GRCm39)	D1310G	probably benign	Het
Ppfia1	A	G	7: 144,045,311 (GRCm39)	S949P	possibly damaging	Het
Pxylp1	A	C	9: 96,706,800 (GRCm39)	F461V	possibly damaging	Het
Rcn3	A	G	7: 44,740,947 (GRCm39)	Y54H	probably damaging	Het
Rnpepl1	A	G	1: 92,843,606 (GRCm39)	H242R	probably benign	Het
Rps6ka5	A	T	12: 100,519,407 (GRCm39)	D735E	possibly damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr2	G	A	13: 11,814,711 (GRCm39)	T687M	probably damaging	Het
Scn11a	A	G	9: 119,624,744 (GRCm39)	I526T	probably damaging	Het
Slc29a3	A	G	10: 60,556,781 (GRCm39)	V211A	possibly damaging	Het
Syt10	A	T	15: 89,711,067 (GRCm39)	H155Q	probably benign	Het
Taar8b	A	T	10: 23,968,135 (GRCm39)	S20T	probably damaging	Het
Tenm4	A	T	7: 96,486,496 (GRCm39)	I988F	probably damaging	Het
Thoc2l	T	A	5: 104,666,084 (GRCm39)	I202K	probably damaging	Het
Tlr3	A	G	8: 45,856,130 (GRCm39)	S17P	probably benign	Het
Tmem87a	A	G	2: 120,224,905 (GRCm39)	S119P	probably benign	Het
Vmn2r80	A	C	10: 78,984,854 (GRCm39)	N69H	probably benign	Het
Xylb	T	A	9: 119,193,573 (GRCm39)	*66R	probably null	Het
Ylpm1	G	A	12: 85,076,404 (GRCm39)	R1043H	probably benign	Het
Ythdf3	G	A	3: 16,259,325 (GRCm39)	V491I	possibly 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
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'- GGATATAAAGGAAGCTATGTCCCATG -3'
(R):5'- ACTGTCAAGTAGCTCTAGGGG -3'

Sequencing Primer
(F):5'- GAAGCTATGTCCCATGATAAAAAGAC -3'
(R):5'- GGGCTATAAGCTTCTCTCTCAGATG -3'

Posted On

2017-08-16