Mutagenetix > Incidental Mutation

Incidental Mutation 'R6543:Topaz1'

520947

Institutional Source

Beutler Lab

Gene Symbol

Topaz1

Ensembl Gene

ENSMUSG00000094985

Gene Name

testis and ovary specific PAZ domain containing 1

Synonyms

Gm9524

MMRRC Submission

044669-MU

Accession Numbers

Essential gene?

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

Stock #

R6543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122576411-122631200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122577600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 170 (N170S)

Ref Sequence

ENSEMBL: ENSMUSP00000136304 (fasta)

Gene Model

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

AlphaFold

E5FYH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178679
AA Change: N170S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: N170S

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

0.0623

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (41/41)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4e1	T	C	2: 126,908,525 (GRCm39)	V1091A	probably benign	Het
Arhgef11	A	G	3: 87,640,715 (GRCm39)	N1320D	probably benign	Het
Atl3	T	A	19: 7,487,463 (GRCm39)	F126Y	probably damaging	Het
Borcs5	C	T	6: 134,687,143 (GRCm39)	T167M	probably damaging	Het
Cplane2	T	G	4: 140,944,599 (GRCm39)	V50G	probably benign	Het
Creld2	A	G	15: 88,709,481 (GRCm39)	T331A	probably benign	Het
Cuzd1	A	G	7: 130,911,497 (GRCm39)	V494A	probably damaging	Het
Dclk1	C	T	3: 55,407,552 (GRCm39)	P244S	probably damaging	Het
Esyt3	T	C	9: 99,220,825 (GRCm39)	N126S	possibly damaging	Het
Focad	T	C	4: 88,197,493 (GRCm39)	S629P	unknown	Het
Grip1	T	C	10: 119,821,499 (GRCm39)	L389P	probably benign	Het
Igkv4-91	A	T	6: 68,745,582 (GRCm39)	D105E	probably damaging	Het
Il20ra	G	A	10: 19,625,071 (GRCm39)	A117T	probably damaging	Het
Il6ra	A	G	3: 89,784,170 (GRCm39)	V367A	probably damaging	Het
Itga8	C	T	2: 12,306,455 (GRCm39)	V47M	probably damaging	Het
Limk2	T	C	11: 3,300,682 (GRCm39)	Y220C	probably damaging	Het
Lims1	T	A	10: 58,248,273 (GRCm39)	C243*	probably null	Het
Man1a	C	A	10: 53,811,077 (GRCm39)	G435*	probably null	Het
Msantd5f4	A	G	4: 73,557,215 (GRCm39)	E16G	probably damaging	Het
Mtor	T	A	4: 148,630,053 (GRCm39)	I2250N	probably damaging	Het
N4bp1	G	A	8: 87,588,534 (GRCm39)	Q135*	probably null	Het
Nbeal2	A	T	9: 110,473,526 (GRCm39)	D76E	probably benign	Het
Nbn	T	C	4: 15,986,605 (GRCm39)	S669P	probably benign	Het
Nfrkb	C	T	9: 31,312,281 (GRCm39)	Q456*	probably null	Het
Or6c3b	C	A	10: 129,527,859 (GRCm39)	G17V	probably benign	Het
Pcnx3	C	T	19: 5,715,275 (GRCm39)	A1557T	probably benign	Het
Pgd	C	T	4: 149,245,209 (GRCm39)		probably null	Het
Prokr2	T	A	2: 132,215,819 (GRCm39)	Q53L	probably benign	Het
Pxmp4	C	A	2: 154,429,979 (GRCm39)	A137S	possibly damaging	Het
Rasef	C	T	4: 73,698,756 (GRCm39)		probably benign	Het
Scpppq1	T	C	5: 104,222,741 (GRCm39)		probably benign	Het
Scrt2	C	T	2: 151,935,063 (GRCm39)	A72V	probably benign	Het
Sipa1l2	T	C	8: 126,177,101 (GRCm39)	E1171G	possibly damaging	Het
Slc26a8	T	C	17: 28,857,375 (GRCm39)	T923A	possibly damaging	Het
Slco1a6	T	C	6: 142,078,872 (GRCm39)	K141R	probably benign	Het
Slfn5	T	A	11: 82,849,492 (GRCm39)		probably null	Het
Sympk	A	T	7: 18,770,755 (GRCm39)	H282L	probably damaging	Het
Tnr	A	G	1: 159,751,677 (GRCm39)	Y1324C	probably damaging	Het
Trav6-3	T	C	14: 53,666,219 (GRCm39)	M1T	probably null	Het
Trim66	A	G	7: 109,075,086 (GRCm39)	S392P	probably benign	Het
Ttn	T	C	2: 76,599,155 (GRCm39)	T10958A	probably damaging	Het
Ubr7	A	G	12: 102,734,494 (GRCm39)	K256R	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
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
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'- AGTCTTTGCAAACAGTGGAGTG -3'
(R):5'- CTCTGCAAGATTCCTAAGGTTTTC -3'

Sequencing Primer
(F):5'- ACAGTGGAGTGCAGTGAATTTC -3'
(R):5'- GTTCTCTTCAGTGTGTAGACA -3'

Posted On

2018-06-06