Mutagenetix > Incidental Mutation

Incidental Mutation 'R3160:Topaz1'

258113

Institutional Source

Beutler Lab

Gene Symbol

Topaz1

Ensembl Gene

ENSMUSG00000094985

Gene Name

testis and ovary specific PAZ domain containing 1

Synonyms

Gm9524

MMRRC Submission

040611-MU

Accession Numbers

Essential gene?

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

Stock #

R3160 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122576411-122631200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122578446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 452 (I452T)

Ref Sequence

ENSEMBL: ENSMUSP00000136304 (fasta)

Gene Model

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

AlphaFold

E5FYH1

Predicted Effect

probably benign
Transcript: ENSMUST00000178679
AA Change: I452T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: I452T

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

Meta Mutation Damage Score

0.0721

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

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
Adcy9	A	G	16: 4,129,452 (GRCm39)	L715P	probably damaging	Het
Amer2	A	G	14: 60,616,000 (GRCm39)	D65G	probably damaging	Het
Btnl2	T	C	17: 34,577,039 (GRCm39)	W65R	probably damaging	Het
Camk1g	T	C	1: 193,042,115 (GRCm39)	T45A	possibly damaging	Het
Ccdc181	T	A	1: 164,107,865 (GRCm39)	S183T	probably damaging	Het
Cep350	T	C	1: 155,738,910 (GRCm39)	H2311R	probably benign	Het
Copa	T	A	1: 171,918,800 (GRCm39)	C127S	probably damaging	Het
Crbn	T	C	6: 106,767,827 (GRCm39)	Q221R	probably benign	Het
Dapk2	T	G	9: 66,161,893 (GRCm39)	V267G	probably damaging	Het
Decr1	T	A	4: 15,930,972 (GRCm39)	D120V	probably damaging	Het
Dennd1c	C	T	17: 57,373,562 (GRCm39)	G637D	possibly damaging	Het
Disp1	T	C	1: 182,868,806 (GRCm39)	K1205E	probably benign	Het
Dnajc13	G	T	9: 104,097,097 (GRCm39)	N510K	possibly damaging	Het
Hnrnpu	T	C	1: 178,158,690 (GRCm39)		probably benign	Het
Iqgap1	G	A	7: 80,402,086 (GRCm39)	A393V	probably benign	Het
Irak2	G	T	6: 113,649,721 (GRCm39)	A119S	probably benign	Het
Itgb2l	A	G	16: 96,238,589 (GRCm39)	L70P	probably damaging	Het
Itsn1	C	A	16: 91,649,932 (GRCm39)	S202*	probably null	Het
Mill2	A	C	7: 18,590,099 (GRCm39)	E127A	probably benign	Het
Msh6	T	C	17: 88,292,909 (GRCm39)	Y555H	probably damaging	Het
Myo18b	A	C	5: 112,840,594 (GRCm39)	S2400A	probably damaging	Het
Naa25	A	G	5: 121,573,135 (GRCm39)		probably null	Het
Nop2	A	G	6: 125,111,555 (GRCm39)	N96S	probably benign	Het
Or11g24	T	A	14: 50,662,488 (GRCm39)	C171S	probably damaging	Het
Or13c7b	T	A	4: 43,820,544 (GRCm39)	K272N	probably benign	Het
Or2z2	T	C	11: 58,346,053 (GRCm39)	T241A	probably damaging	Het
Or4c52	T	G	2: 89,845,365 (GRCm39)	Y30*	probably null	Het
Pde5a	T	A	3: 122,575,277 (GRCm39)	L356*	probably null	Het
Prss59	A	G	6: 40,903,003 (GRCm39)	M123T	probably benign	Het
Ralgapa1	A	T	12: 55,756,371 (GRCm39)	N1075K	probably damaging	Het
Rps2	G	T	17: 24,939,952 (GRCm39)	A129S	probably benign	Het
Serinc2	A	G	4: 130,154,528 (GRCm39)	S175P	probably benign	Het
Socs5	A	T	17: 87,442,146 (GRCm39)	Q362L	probably damaging	Het
Srbd1	A	T	17: 86,437,643 (GRCm39)	D233E	probably benign	Het
Srgap3	A	G	6: 112,706,619 (GRCm39)	V826A	probably benign	Het
Tns2	A	G	15: 102,021,771 (GRCm39)	E1118G	possibly damaging	Het
Tuba8	A	G	6: 121,199,697 (GRCm39)	D127G	possibly damaging	Het
Tulp4	A	G	17: 6,248,983 (GRCm39)	M1V	probably null	Het
Urb1	A	G	16: 90,594,791 (GRCm39)	L247P	probably damaging	Het
Usp32	A	G	11: 84,916,362 (GRCm39)	W861R	probably damaging	Het
Vmn1r48	G	A	6: 90,013,360 (GRCm39)	T155I	probably benign	Het
Vmn2r117	A	G	17: 23,679,352 (GRCm39)	L624P	probably damaging	Het
Vstm5	T	G	9: 15,168,594 (GRCm39)	S53A	probably benign	Het
Yeats2	T	C	16: 20,012,395 (GRCm39)	V531A	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
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
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'- CTATGCTTCAGAAAACCCTCGAATC -3'
(R):5'- CAGTTTAGAGTCAGGTAAGTGAGTC -3'

Sequencing Primer
(F):5'- CCCTCGAATCAAGTTTGAAAGAG -3'
(R):5'- AGTCAGGTAAGTGAGTCTGGTTC -3'

Posted On

2015-01-23