Mutagenetix > Incidental Mutation

Incidental Mutation 'R9522:Top6bl'

718985

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R9522 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4675762-4748696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4677274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 612 (H612R)

Ref Sequence

ENSEMBL: ENSMUSP00000136515 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000177696
AA Change: H612R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000136515
Gene: ENSMUSG00000071691
AA Change: H612R

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

probably benign
Transcript: ENSMUST00000224675

Predicted Effect

probably benign
Transcript: ENSMUST00000224707

Predicted Effect

probably benign
Transcript: ENSMUST00000225264

Predicted Effect

probably benign
Transcript: ENSMUST00000225375

Predicted Effect

probably benign
Transcript: ENSMUST00000225476

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,847,368 (GRCm39)	Y744F	probably null	Het
Adam17	C	A	12: 21,395,693 (GRCm39)	V277F	probably damaging	Het
Adcy8	C	T	15: 64,792,560 (GRCm39)	C132Y	probably damaging	Het
Adgrf3	G	A	5: 30,404,482 (GRCm39)	P318L	possibly damaging	Het
Ahcyl1	A	T	3: 107,579,398 (GRCm39)	I212N	probably damaging	Het
Allc	A	T	12: 28,620,653 (GRCm39)	F33I	probably damaging	Het
Arhgap32	A	G	9: 32,027,450 (GRCm39)	T7A	probably benign	Het
Bbs4	A	G	9: 59,260,691 (GRCm39)		probably null	Het
Btbd1	G	T	7: 81,479,081 (GRCm39)	P20H	unknown	Het
Cass4	A	G	2: 172,269,348 (GRCm39)	I477V	possibly damaging	Het
Cep83	A	G	10: 94,586,184 (GRCm39)	E362G	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cimip2c	A	T	5: 30,623,467 (GRCm39)	S5C	probably damaging	Het
Cntnap5b	A	G	1: 100,412,347 (GRCm39)	D896G	probably benign	Het
Crocc2	T	C	1: 93,117,429 (GRCm39)	V305A	probably benign	Het
Cse1l	G	A	2: 166,776,673 (GRCm39)	V495I	probably benign	Het
Ctsj	A	T	13: 61,152,257 (GRCm39)	Y36*	probably null	Het
Ctss	T	G	3: 95,454,109 (GRCm39)	D220E	probably benign	Het
Ctu1	T	C	7: 43,324,900 (GRCm39)	L113P	probably benign	Het
Cyp2d40	G	A	15: 82,648,274 (GRCm39)	A13V	possibly damaging	Het
Dhrs4	A	T	14: 55,716,219 (GRCm39)		probably benign	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dpysl5	C	A	5: 30,935,399 (GRCm39)	Y167*	probably null	Het
E4f1	C	T	17: 24,666,096 (GRCm39)	G234D	probably damaging	Het
Eif3g	G	T	9: 20,809,451 (GRCm39)	T27N	probably benign	Het
Eif3g	T	A	9: 20,809,452 (GRCm39)	T27S	probably benign	Het
Fcrl2	A	G	3: 87,164,101 (GRCm39)	F343L	possibly damaging	Het
Fdft1	T	C	14: 63,396,597 (GRCm39)		probably null	Het
Hsd3b9	T	C	3: 98,353,783 (GRCm39)	S239G	probably benign	Het
Igf2r	G	T	17: 12,917,215 (GRCm39)	Q1562K	probably benign	Het
Ilf3	G	A	9: 21,305,533 (GRCm39)	V232I	probably benign	Het
Irx5	C	T	8: 93,087,259 (GRCm39)	T397M	possibly damaging	Het
Kif16b	A	T	2: 142,691,827 (GRCm39)	V219D	probably damaging	Het
Klkb1	T	C	8: 45,730,052 (GRCm39)	I276M	probably benign	Het
Large2	A	G	2: 92,200,266 (GRCm39)	L115P	probably damaging	Het
Lrrc3b	T	C	14: 15,358,423 (GRCm38)	D61G	probably benign	Het
Map7	A	G	10: 20,105,642 (GRCm39)	Y31C	possibly damaging	Het
Moxd2	T	A	6: 40,857,375 (GRCm39)	I462F	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or5b98	T	A	19: 12,931,377 (GRCm39)	C141*	probably null	Het
Or9m2	G	A	2: 87,821,175 (GRCm39)	C240Y	probably damaging	Het
Phf20l1	T	C	15: 66,504,669 (GRCm39)	V770A	possibly damaging	Het
Ppfia4	G	A	1: 134,240,886 (GRCm39)	A819V	probably damaging	Het
Qrfpr	A	G	3: 36,236,676 (GRCm39)	W242R	probably damaging	Het
Rgs3	A	G	4: 62,523,729 (GRCm39)	I53M	probably benign	Het
Rif1	T	C	2: 51,971,311 (GRCm39)	F263S	probably damaging	Het
Rpl22l1	T	C	3: 28,860,743 (GRCm39)		probably null	Het
Ryr3	T	A	2: 112,560,759 (GRCm39)	I3001F	probably benign	Het
Safb2	A	G	17: 56,873,900 (GRCm39)	I675T	probably damaging	Het
Scart2	T	A	7: 139,853,987 (GRCm39)	I330N	possibly damaging	Het
Sec16b	C	T	1: 157,392,335 (GRCm39)	S901L	probably damaging	Het
Setd5	T	G	6: 113,091,995 (GRCm39)	I272S	probably damaging	Het
Slc40a1	A	T	1: 45,948,672 (GRCm39)	M536K	probably damaging	Het
Slfn3	T	C	11: 83,103,825 (GRCm39)	V232A	probably benign	Het
Spata31d1b	T	C	13: 59,864,780 (GRCm39)	S643P	probably benign	Het
Tbc1d23	T	C	16: 57,019,107 (GRCm39)	D251G	probably benign	Het
Tbccd1	T	C	16: 22,641,249 (GRCm39)	E376G	possibly damaging	Het
Tmem184a	G	T	5: 139,791,485 (GRCm39)	P368T	probably benign	Het
Top1mt	T	C	15: 75,539,309 (GRCm39)	D362G	probably damaging	Het
Ugt3a1	C	A	15: 9,370,209 (GRCm39)	P451H	probably damaging	Het
Unc80	G	A	1: 66,677,221 (GRCm39)	C2050Y	possibly damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn1r179	T	C	7: 23,628,202 (GRCm39)	V131A	probably damaging	Het
Wdr89	A	G	12: 75,679,924 (GRCm39)	F110S	probably damaging	Het
Znrf3	T	C	11: 5,232,379 (GRCm39)	Y282C	probably damaging	Het
Zscan18	T	C	7: 12,503,297 (GRCm39)	D754G	possibly damaging	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
R6277:Top6bl	UTSW	19	4,677,250 (GRCm39)	nonsense	probably null
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
Z1176:Top6bl	UTSW	19	4,675,931 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTCCCTCAATCACTGTGGAAGG -3'
(R):5'- TGAGTTGTACAAGGGTCCACAG -3'

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

Posted On

2022-07-18