Mutagenetix > Incidental Mutation

Incidental Mutation 'R5706:Topaz1'

451981

Institutional Source

Beutler Lab

Gene Symbol

Topaz1

Ensembl Gene

ENSMUSG00000094985

Gene Name

testis and ovary specific PAZ domain containing 1

Synonyms

Gm9524

MMRRC Submission

043331-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R5706 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122747346-122802135 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122799485 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1546 (I1546F)

Ref Sequence

ENSEMBL: ENSMUSP00000136304 (fasta)

Gene Model

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

AlphaFold

E5FYH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178679
AA Change: I1546F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: I1546F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,054,261 (GRCm38)	M77K	probably benign	Het
Amy1	A	G	3: 113,556,120 (GRCm38)	V467A	probably damaging	Het
Atf4	T	C	15: 80,256,330 (GRCm38)	V11A	possibly damaging	Het
B4galt1	T	C	4: 40,807,268 (GRCm38)	N373D	probably damaging	Het
Bpifa3	A	G	2: 154,135,578 (GRCm38)	K112R	probably damaging	Het
Chd2	T	A	7: 73,491,357 (GRCm38)	Y596F	possibly damaging	Het
Clspn	T	C	4: 126,578,418 (GRCm38)	S962P	probably damaging	Het
Cyp2c68	T	C	19: 39,734,318 (GRCm38)	D262G	possibly damaging	Het
Dcaf11	T	C	14: 55,565,695 (GRCm38)	I282T	probably damaging	Het
Dmxl1	T	C	18: 49,957,395 (GRCm38)		probably null	Het
Dnah11	T	G	12: 118,023,935 (GRCm38)	K2411Q	probably damaging	Het
Elf3	A	G	1: 135,256,482 (GRCm38)	V196A	probably benign	Het
Fhad1	T	G	4: 141,954,116 (GRCm38)	T538P	probably damaging	Het
Fkbp10	A	G	11: 100,421,023 (GRCm38)	D174G	probably damaging	Het
Gas6	A	G	8: 13,477,098 (GRCm38)	S217P	probably damaging	Het
Gm4778	T	A	3: 94,266,652 (GRCm38)	H322Q	possibly damaging	Het
Heatr5b	C	T	17: 78,766,875 (GRCm38)		probably null	Het
Iqgap3	A	G	3: 88,115,908 (GRCm38)	E502G	probably benign	Het
Klc1	T	C	12: 111,795,627 (GRCm38)	V577A	possibly damaging	Het
Lck	T	C	4: 129,551,638 (GRCm38)		probably null	Het
Mc3r	C	A	2: 172,249,690 (GRCm38)	Y277*	probably null	Het
Mlxipl	T	C	5: 135,133,604 (GRCm38)	V640A	probably benign	Het
Mrc2	A	T	11: 105,332,343 (GRCm38)	N471Y	probably damaging	Het
Ncan	T	A	8: 70,102,017 (GRCm38)	H1050L	probably damaging	Het
Nrl	C	A	14: 55,522,432 (GRCm38)	V13F	probably damaging	Het
Obscn	T	A	11: 59,076,256 (GRCm38)	Y546F	probably damaging	Het
Olfr214	A	G	6: 116,557,113 (GRCm38)	I229M	probably damaging	Het
Olfr654	T	G	7: 104,587,890 (GRCm38)	S46A	probably benign	Het
Olfr799	A	G	10: 129,648,091 (GRCm38)		probably null	Het
Pde3b	G	A	7: 114,521,692 (GRCm38)	G684D	probably damaging	Het
Prkaa1	C	T	15: 5,174,342 (GRCm38)	T244I	probably benign	Het
Scfd2	A	T	5: 74,206,398 (GRCm38)		probably null	Het
Slc22a30	G	A	19: 8,344,393 (GRCm38)	Q436*	probably null	Het
Smg1	A	T	7: 118,145,590 (GRCm38)	V3113D	possibly damaging	Het
Sorbs1	T	C	19: 40,376,881 (GRCm38)	T153A	probably benign	Het
Spag16	A	G	1: 69,870,289 (GRCm38)	T182A	probably benign	Het
Svs2	T	C	2: 164,237,669 (GRCm38)	K106R	possibly damaging	Het
Tenm1	A	G	X: 43,074,695 (GRCm38)	V107A	possibly damaging	Het
Tubgcp2	C	A	7: 140,032,225 (GRCm38)	E78*	probably null	Het
Vars	A	G	17: 35,005,481 (GRCm38)		probably null	Het
Vmn2r109	A	T	17: 20,554,305 (GRCm38)	W263R	probably benign	Het

Other mutations in Topaz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0083:Topaz1	UTSW	9	122,775,609 (GRCm38)	missense	probably benign	0.08
R0098:Topaz1	UTSW	9	122,790,123 (GRCm38)	missense	possibly damaging	0.93
R0098:Topaz1	UTSW	9	122,790,123 (GRCm38)	missense	possibly damaging	0.93
R0108:Topaz1	UTSW	9	122,775,609 (GRCm38)	missense	probably benign	0.08
R0220:Topaz1	UTSW	9	122,749,303 (GRCm38)	missense	possibly damaging	0.53
R0519:Topaz1	UTSW	9	122,749,479 (GRCm38)	missense	possibly damaging	0.53
R0617:Topaz1	UTSW	9	122,749,906 (GRCm38)	missense	possibly damaging	0.73
R0637:Topaz1	UTSW	9	122,797,662 (GRCm38)	missense	probably benign
R0637:Topaz1	UTSW	9	122,791,477 (GRCm38)	nonsense	probably null
R1368:Topaz1	UTSW	9	122,748,250 (GRCm38)	missense	possibly damaging	0.72
R1519:Topaz1	UTSW	9	122,767,011 (GRCm38)	missense	probably benign	0.33
R1526:Topaz1	UTSW	9	122,796,043 (GRCm38)	missense	probably damaging	0.98
R1634:Topaz1	UTSW	9	122,780,675 (GRCm38)	splice site	probably benign
R1871:Topaz1	UTSW	9	122,799,479 (GRCm38)	missense	probably benign	0.18
R1879:Topaz1	UTSW	9	122,749,619 (GRCm38)	missense	possibly damaging	0.70
R1913:Topaz1	UTSW	9	122,767,013 (GRCm38)	missense	possibly damaging	0.73
R1977:Topaz1	UTSW	9	122,747,362 (GRCm38)	missense	unknown
R1989:Topaz1	UTSW	9	122,750,125 (GRCm38)	missense	possibly damaging	0.86
R2237:Topaz1	UTSW	9	122,771,147 (GRCm38)	missense	probably benign
R2238:Topaz1	UTSW	9	122,771,147 (GRCm38)	missense	probably benign
R2239:Topaz1	UTSW	9	122,771,147 (GRCm38)	missense	probably benign
R3160:Topaz1	UTSW	9	122,749,381 (GRCm38)	missense	probably benign	0.33
R3161:Topaz1	UTSW	9	122,749,381 (GRCm38)	missense	probably benign	0.33
R3162:Topaz1	UTSW	9	122,749,381 (GRCm38)	missense	probably benign	0.33
R3821:Topaz1	UTSW	9	122,797,783 (GRCm38)	missense	possibly damaging	0.85
R3822:Topaz1	UTSW	9	122,797,783 (GRCm38)	missense	possibly damaging	0.85
R3944:Topaz1	UTSW	9	122,750,604 (GRCm38)	missense	possibly damaging	0.73
R4571:Topaz1	UTSW	9	122,747,436 (GRCm38)	missense	probably benign	0.01
R4580:Topaz1	UTSW	9	122,747,515 (GRCm38)	missense	probably null	0.00
R5043:Topaz1	UTSW	9	122,748,404 (GRCm38)	missense	probably benign
R5084:Topaz1	UTSW	9	122,748,818 (GRCm38)	missense	probably benign	0.04
R5234:Topaz1	UTSW	9	122,790,193 (GRCm38)	missense	possibly damaging	0.82
R5388:Topaz1	UTSW	9	122,774,093 (GRCm38)	missense	possibly damaging	0.96
R5471:Topaz1	UTSW	9	122,791,416 (GRCm38)	splice site	probably null
R5993:Topaz1	UTSW	9	122,749,039 (GRCm38)	missense	probably benign	0.00
R6104:Topaz1	UTSW	9	122,749,866 (GRCm38)	missense	probably benign
R6137:Topaz1	UTSW	9	122,797,756 (GRCm38)	missense	possibly damaging	0.53
R6186:Topaz1	UTSW	9	122,748,826 (GRCm38)	missense	probably benign	0.33
R6209:Topaz1	UTSW	9	122,750,505 (GRCm38)	missense	possibly damaging	0.85
R6543:Topaz1	UTSW	9	122,748,535 (GRCm38)	missense	possibly damaging	0.53
R6548:Topaz1	UTSW	9	122,748,354 (GRCm38)	missense	possibly damaging	0.53
R6557:Topaz1	UTSW	9	122,748,895 (GRCm38)	missense	probably benign	0.02
R6636:Topaz1	UTSW	9	122,749,786 (GRCm38)	missense	probably benign	0.33
R6637:Topaz1	UTSW	9	122,749,786 (GRCm38)	missense	probably benign	0.33
R6859:Topaz1	UTSW	9	122,801,958 (GRCm38)	missense	probably benign	0.33
R7123:Topaz1	UTSW	9	122,748,415 (GRCm38)	missense	probably damaging	1.00
R7180:Topaz1	UTSW	9	122,797,705 (GRCm38)	missense	possibly damaging	0.85
R7319:Topaz1	UTSW	9	122,750,363 (GRCm38)	missense	possibly damaging	0.73
R7743:Topaz1	UTSW	9	122,785,136 (GRCm38)	missense	probably benign	0.16
R7810:Topaz1	UTSW	9	122,749,185 (GRCm38)	missense	probably benign	0.18
R7871:Topaz1	UTSW	9	122,780,700 (GRCm38)	missense	possibly damaging	0.96
R7875:Topaz1	UTSW	9	122,749,587 (GRCm38)	missense	possibly damaging	0.53
R7916:Topaz1	UTSW	9	122,747,434 (GRCm38)	missense	probably benign	0.05
R8116:Topaz1	UTSW	9	122,775,643 (GRCm38)	missense	probably benign	0.00
R8437:Topaz1	UTSW	9	122,781,362 (GRCm38)	nonsense	probably null
R8470:Topaz1	UTSW	9	122,774,108 (GRCm38)	missense	probably benign
R8487:Topaz1	UTSW	9	122,749,936 (GRCm38)	missense	possibly damaging	0.85
R8493:Topaz1	UTSW	9	122,750,508 (GRCm38)	missense	probably benign	0.33
R8919:Topaz1	UTSW	9	122,797,865 (GRCm38)	splice site	probably benign
R8922:Topaz1	UTSW	9	122,796,036 (GRCm38)	missense	possibly damaging	0.51
R9019:Topaz1	UTSW	9	122,790,127 (GRCm38)	missense	possibly damaging	0.52
R9126:Topaz1	UTSW	9	122,796,163 (GRCm38)	missense	probably benign	0.33
R9230:Topaz1	UTSW	9	122,767,032 (GRCm38)	missense	probably benign
R9302:Topaz1	UTSW	9	122,788,822 (GRCm38)	missense	possibly damaging	0.93
R9408:Topaz1	UTSW	9	122,797,663 (GRCm38)	missense	probably benign	0.02
R9469:Topaz1	UTSW	9	122,748,520 (GRCm38)	missense	probably damaging	0.98
R9487:Topaz1	UTSW	9	122,775,642 (GRCm38)	missense	probably benign	0.08
R9557:Topaz1	UTSW	9	122,749,465 (GRCm38)	missense	possibly damaging	0.85
R9564:Topaz1	UTSW	9	122,750,154 (GRCm38)	missense	probably benign	0.33
R9726:Topaz1	UTSW	9	122,774,870 (GRCm38)	critical splice donor site	probably benign
R9726:Topaz1	UTSW	9	122,774,869 (GRCm38)	critical splice donor site	probably benign
X0020:Topaz1	UTSW	9	122,774,069 (GRCm38)	missense	possibly damaging	0.96
Z1176:Topaz1	UTSW	9	122,791,494 (GRCm38)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- GCAGTGTCAAATTGTCAAGATGC -3'
(R):5'- CTATAGGGCAGGCATAGAGC -3'

Sequencing Primer
(F):5'- ATAGCTACCCTGACCTGTAAGTGG -3'
(R):5'- CAGGCATAGAGCTGCATCTATGTTC -3'

Posted On

2017-01-03