Mutagenetix > Incidental Mutation

Incidental Mutation 'R6277:Top6bl'

507756

Institutional Source

Beutler Lab

Gene Symbol

Top6bl

Ensembl Gene

ENSMUSG00000071691

Gene Name

TOP6B like initiator of meiotic double strand breaks

Synonyms

Top6bl, Gm960

MMRRC Submission

044447-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R6277 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4675762-4748696 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 4677250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 466 (S466*)

Ref Sequence

ENSEMBL: ENSMUSP00000153439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025823] [ENSMUST00000177696] [ENSMUST00000224675] [ENSMUST00000224707] [ENSMUST00000225264] [ENSMUST00000225896] [ENSMUST00000225476] [ENSMUST00000225375]

AlphaFold

J3QMY9

Predicted Effect

probably benign
Transcript: ENSMUST00000025823

SMART Domains

Protein: ENSMUSP00000025823
Gene: ENSMUSG00000024889

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC
transmembrane domain	112	134	N/A	INTRINSIC
Pfam:Abi	147	267	1.4e-19	PFAM
transmembrane domain	283	302	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000177696
AA Change: S620*

SMART Domains

Protein: ENSMUSP00000136515
Gene: ENSMUSG00000071691
AA Change: S620*

Domain	Start	End	E-Value	Type
low complexity region	65	79	N/A	INTRINSIC
low complexity region	106	122	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
Pfam:DUF4554	274	719	5.3e-206	PFAM
low complexity region	720	731	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223788

Predicted Effect

probably benign
Transcript: ENSMUST00000224675

Predicted Effect

probably benign
Transcript: ENSMUST00000224707

Predicted Effect

probably benign
Transcript: ENSMUST00000225264

Predicted Effect

probably null
Transcript: ENSMUST00000225896
AA Change: S466*

Predicted Effect

probably benign
Transcript: ENSMUST00000225476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225285

Predicted Effect

probably benign
Transcript: ENSMUST00000225375

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.2%

Validation Efficiency

96% (70/73)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired double-strand break formation that imapires female and male meiosis and results in no spermatids and reduced primary and primordial follicle numbers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,651 (GRCm39)	Y105H	possibly damaging	Het
4921539E11Rik	A	T	4: 103,088,668 (GRCm39)	Y179*	probably null	Het
Abca7	G	C	10: 79,841,992 (GRCm39)	V1042L	probably benign	Het
Adck5	C	A	15: 76,477,463 (GRCm39)	T99K	possibly damaging	Het
Adcy5	A	G	16: 35,109,896 (GRCm39)	T823A	probably benign	Het
Adra1d	G	T	2: 131,403,083 (GRCm39)	R336S	probably damaging	Het
Arhgap39	A	T	15: 76,619,337 (GRCm39)	M749K	probably damaging	Het
Arid4a	A	G	12: 71,086,665 (GRCm39)	R168G	possibly damaging	Het
Atxn10	A	G	15: 85,275,893 (GRCm39)	T317A	probably benign	Het
Bicc1	T	C	10: 70,863,731 (GRCm39)	K22E	possibly damaging	Het
Cacna1b	T	G	2: 24,620,808 (GRCm39)	T281P	probably damaging	Het
Ccdc174	A	T	6: 91,857,272 (GRCm39)	Q26L	probably damaging	Het
Celf3	T	C	3: 94,392,672 (GRCm39)	C124R	probably damaging	Het
Cfap44	A	G	16: 44,257,669 (GRCm39)	E1068G	probably benign	Het
Crybg1	T	A	10: 43,873,255 (GRCm39)	E1284D	probably benign	Het
Dcbld2	T	A	16: 58,272,119 (GRCm39)	Y392N	probably damaging	Het
Dcbld2	C	T	16: 58,285,866 (GRCm39)	P675L	probably damaging	Het
Dnah12	A	T	14: 26,492,439 (GRCm39)	H1193L	probably damaging	Het
Efcab3	G	C	11: 104,901,148 (GRCm39)	E4422D	possibly damaging	Het
Ern2	A	G	7: 121,785,330 (GRCm39)	F16L	probably benign	Het
Fam163b	G	T	2: 27,002,763 (GRCm39)	T78N	probably benign	Het
Fbxw21	A	T	9: 108,974,623 (GRCm39)	I299K	possibly damaging	Het
Foxg1	A	G	12: 49,432,299 (GRCm39)	N344S	probably benign	Het
Git2	A	G	5: 114,871,308 (GRCm39)	I202T	probably damaging	Het
Gm11595	G	T	11: 99,663,510 (GRCm39)	P57T	unknown	Het
Gm12258	G	A	11: 58,745,113 (GRCm39)	V15M	probably damaging	Het
Gm15056	C	T	8: 21,390,914 (GRCm39)	G40S	probably damaging	Het
Gnal	C	A	18: 67,346,143 (GRCm39)	H274Q	probably damaging	Het
Hormad2	A	T	11: 4,371,583 (GRCm39)		probably null	Het
Ighv7-2	A	G	12: 113,876,087 (GRCm39)	I6T	probably benign	Het
Irf9	A	G	14: 55,845,109 (GRCm39)	D323G	probably benign	Het
Klhl23	G	T	2: 69,664,096 (GRCm39)	D482Y	probably damaging	Het
Lama4	A	G	10: 38,982,006 (GRCm39)	N1745S	probably damaging	Het
Lct	T	A	1: 128,231,974 (GRCm39)	Y625F	probably benign	Het
Lrrc26	T	C	2: 25,180,116 (GRCm39)	V39A	probably benign	Het
Mllt6	G	A	11: 97,564,774 (GRCm39)	A527T	probably damaging	Het
Mrgprb4	T	A	7: 47,848,649 (GRCm39)	D93V	probably benign	Het
Nlrp5	A	G	7: 23,120,880 (GRCm39)	D698G	probably damaging	Het
Or13p10	T	A	4: 118,523,520 (GRCm39)	S269T	probably benign	Het
Pacsin1	T	A	17: 27,924,969 (GRCm39)		probably null	Het
Padi3	A	T	4: 140,518,472 (GRCm39)		probably null	Het
Pcdha8	T	C	18: 37,127,411 (GRCm39)	I631T	probably damaging	Het
Pkn3	G	A	2: 29,972,957 (GRCm39)	G315D	possibly damaging	Het
Ppfibp1	T	A	6: 146,907,422 (GRCm39)	D228E	probably benign	Het
Prag1	G	T	8: 36,613,745 (GRCm39)	R1099L	probably damaging	Het
Pramel31	A	G	4: 144,090,223 (GRCm39)	E421G	probably damaging	Het
Prr36	A	G	8: 4,264,746 (GRCm39)		probably benign	Het
Prrc2c	A	G	1: 162,541,883 (GRCm39)	S369P	probably benign	Het
Ptprn2	A	G	12: 116,839,800 (GRCm39)	D441G	probably benign	Het
Slc9c1	G	A	16: 45,427,204 (GRCm39)		probably benign	Het
Slit1	G	A	19: 41,588,948 (GRCm39)	T1513I	possibly damaging	Het
Smcr8	C	T	11: 60,669,635 (GRCm39)	T261M	probably benign	Het
Spata17	G	A	1: 186,926,151 (GRCm39)	R60*	probably null	Het
Speer4f1	A	G	5: 17,681,241 (GRCm39)	R40G	probably damaging	Het
Spns3	A	G	11: 72,420,466 (GRCm39)	V340A	possibly damaging	Het
Srgap3	T	C	6: 112,716,344 (GRCm39)	I595V	probably benign	Het
Srms	G	A	2: 180,848,038 (GRCm39)	A489V	possibly damaging	Het
St3gal4	T	C	9: 34,964,558 (GRCm39)	N169S	probably damaging	Het
Taar5	T	A	10: 23,847,169 (GRCm39)	V189E	probably damaging	Het
Tbc1d32	G	A	10: 56,071,525 (GRCm39)	P333L	probably benign	Het
Tet3	G	T	6: 83,345,066 (GRCm39)	Y1790*	probably null	Het
Ticrr	T	A	7: 79,344,444 (GRCm39)	H1436Q	probably benign	Het
Ubl7	C	T	9: 57,830,555 (GRCm39)	L334F	possibly damaging	Het
Unc13a	A	G	8: 72,119,283 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,606,451 (GRCm39)	D1303G	probably damaging	Het
Vmn2r114	A	G	17: 23,509,954 (GRCm39)	L842P	possibly damaging	Het
Vps35	G	T	8: 85,987,857 (GRCm39)	Q765K	possibly damaging	Het
Zfp87	G	T	13: 74,520,643 (GRCm39)	S145*	probably null	Het
Zgrf1	C	T	3: 127,392,461 (GRCm39)	A1327V	possibly damaging	Het
Zkscan6	T	A	11: 65,718,983 (GRCm39)	S334R	probably benign	Het

Other mutations in Top6bl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01303:Top6bl	APN	19	4,709,510 (GRCm39)	missense	possibly damaging	0.93
IGL01678:Top6bl	APN	19	4,722,193 (GRCm39)	missense	possibly damaging	0.94
IGL02160:Top6bl	APN	19	4,713,612 (GRCm39)	missense	probably damaging	1.00
IGL02308:Top6bl	APN	19	4,713,583 (GRCm39)	missense	probably damaging	1.00
IGL03375:Top6bl	APN	19	4,748,206 (GRCm39)	missense	probably benign	0.26
R0485:Top6bl	UTSW	19	4,708,442 (GRCm39)	missense	probably damaging	1.00
R0671:Top6bl	UTSW	19	4,676,216 (GRCm39)	missense	probably damaging	0.97
R1583:Top6bl	UTSW	19	4,702,199 (GRCm39)	missense	probably damaging	1.00
R2049:Top6bl	UTSW	19	4,748,633 (GRCm39)	utr 5 prime	probably benign
R3956:Top6bl	UTSW	19	4,742,525 (GRCm39)	missense	probably benign	0.13
R4554:Top6bl	UTSW	19	4,699,847 (GRCm39)	missense	possibly damaging	0.95
R4635:Top6bl	UTSW	19	4,748,524 (GRCm39)	utr 5 prime	probably benign
R4717:Top6bl	UTSW	19	4,675,901 (GRCm39)	unclassified	probably benign
R4996:Top6bl	UTSW	19	4,676,112 (GRCm39)	missense	probably benign	0.09
R5133:Top6bl	UTSW	19	4,708,449 (GRCm39)	missense	probably damaging	1.00
R5752:Top6bl	UTSW	19	4,676,048 (GRCm39)	missense	probably benign	0.28
R6348:Top6bl	UTSW	19	4,722,106 (GRCm39)	missense	probably damaging	0.96
R7386:Top6bl	UTSW	19	4,713,586 (GRCm39)	nonsense	probably null
R7673:Top6bl	UTSW	19	4,695,661 (GRCm39)	missense	probably damaging	1.00
R7866:Top6bl	UTSW	19	4,748,514 (GRCm39)	missense	unknown
R7874:Top6bl	UTSW	19	4,708,451 (GRCm39)	missense	probably damaging	1.00
R8892:Top6bl	UTSW	19	4,699,721 (GRCm39)	missense	possibly damaging	0.52
R8983:Top6bl	UTSW	19	4,695,714 (GRCm39)	missense	possibly damaging	0.66
R9245:Top6bl	UTSW	19	4,746,068 (GRCm39)	missense	possibly damaging	0.84
R9522:Top6bl	UTSW	19	4,677,274 (GRCm39)	missense	probably benign	0.02
Z1176:Top6bl	UTSW	19	4,675,931 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCCTCAATCACTGTGGAAGG -3'
(R):5'- TGTGAGTTGTACAAGGGTCCAC -3'

Sequencing Primer
(F):5'- CTGTGGAAGGCGGCCAAATC -3'
(R):5'- TCCACAGAAGGGGGATGCTTTG -3'

Posted On

2018-03-15