Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02160:Top6bl'

282441

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Top6bl

Ensembl Gene

ENSMUSG00000071691

Gene Name

TOP6B like initiator of meiotic double strand breaks

Synonyms

Top6bl, Gm960

Accession Numbers

Essential gene?

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

Stock #

IGL02160

Quality Score

Status

Chromosome

Chromosomal Location

4675762-4748696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4713612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 276 (D276G)

Ref Sequence

ENSEMBL: ENSMUSP00000136515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096325] [ENSMUST00000177696] [ENSMUST00000225896]

AlphaFold

J3QMY9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096325
AA Change: D122G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000094049
Gene: ENSMUSG00000071691
AA Change: D122G

Domain	Start	End	E-Value	Type
Pfam:DUF4554	120	162	1.6e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177696
AA Change: D276G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136515
Gene: ENSMUSG00000071691
AA Change: D276G

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 damaging
Transcript: ENSMUST00000225896
AA Change: D122G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

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
Acat1	A	G	9: 53,503,287 (GRCm39)	V184A	probably benign	Het
Adam19	G	A	11: 46,030,522 (GRCm39)	C750Y	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cabp2	T	A	19: 4,134,868 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,731,015 (GRCm39)	M94T	possibly damaging	Het
Ccdc107	A	G	4: 43,495,736 (GRCm39)	D213G	probably damaging	Het
Cdh23	T	C	10: 60,433,544 (GRCm39)		probably benign	Het
Cfap251	A	T	5: 123,394,081 (GRCm39)	E323D	unknown	Het
Cfhr2	T	A	1: 139,738,664 (GRCm39)	D299V	probably benign	Het
Clcn7	T	C	17: 25,368,004 (GRCm39)		probably benign	Het
Clspn	G	A	4: 126,475,303 (GRCm39)	E1019K	probably benign	Het
Ctnna3	A	G	10: 64,086,477 (GRCm39)	T350A	probably benign	Het
Dmbt1	G	A	7: 130,684,418 (GRCm39)	G638E	probably damaging	Het
Ext2	A	T	2: 93,643,929 (GRCm39)	D117E	probably benign	Het
Fem1al	A	T	11: 29,773,593 (GRCm39)	Y621*	probably null	Het
Ffar4	T	A	19: 38,085,903 (GRCm39)	V110D	possibly damaging	Het
Foxred2	G	T	15: 77,839,850 (GRCm39)	Q147K	probably benign	Het
Heatr9	T	C	11: 83,409,651 (GRCm39)	D107G	probably benign	Het
Hmgxb3	G	A	18: 61,304,308 (GRCm39)	A94V	probably damaging	Het
Htr5b	A	T	1: 121,455,774 (GRCm39)	S49T	possibly damaging	Het
Il1rl1	A	T	1: 40,500,997 (GRCm39)	M458L	probably benign	Het
Il23r	A	T	6: 67,400,562 (GRCm39)	N589K	probably benign	Het
Kbtbd11	G	A	8: 15,078,801 (GRCm39)	V467M	probably damaging	Het
Kidins220	T	A	12: 25,054,110 (GRCm39)	Y537N	probably damaging	Het
Kif27	T	A	13: 58,473,812 (GRCm39)	E728D	probably damaging	Het
Lum	T	C	10: 97,404,443 (GRCm39)	S113P	probably damaging	Het
Mkln1	A	G	6: 31,469,726 (GRCm39)		probably benign	Het
Mmp17	A	G	5: 129,672,633 (GRCm39)	D195G	possibly damaging	Het
Naa38	T	A	11: 69,287,194 (GRCm39)		probably benign	Het
Naalad2	G	A	9: 18,291,233 (GRCm39)	A191V	probably damaging	Het
Naip6	A	T	13: 100,435,933 (GRCm39)	H863Q	probably benign	Het
Ncoa6	A	G	2: 155,263,003 (GRCm39)	V477A	possibly damaging	Het
Nipal3	G	T	4: 135,201,728 (GRCm39)	Y153*	probably null	Het
Or10s1	A	T	9: 39,986,482 (GRCm39)	N297I	probably damaging	Het
Or13d1	A	G	4: 52,971,194 (GRCm39)	D191G	probably damaging	Het
Or4c12	G	T	2: 89,774,149 (GRCm39)	H103Q	probably damaging	Het
Or4g16	G	A	2: 111,137,143 (GRCm39)	V198I	probably benign	Het
Or9s23	T	A	1: 92,501,079 (GRCm39)	L62Q	probably damaging	Het
Pik3c2a	G	A	7: 115,987,299 (GRCm39)	P541S	probably damaging	Het
Ppargc1b	A	T	18: 61,443,506 (GRCm39)	D552E	probably damaging	Het
Ppfia3	C	A	7: 45,009,475 (GRCm39)		probably benign	Het
Prcp	G	A	7: 92,566,969 (GRCm39)	S227N	probably benign	Het
Ptprq	T	A	10: 107,489,426 (GRCm39)	T900S	probably benign	Het
Ralgapa2	G	A	2: 146,190,360 (GRCm39)		probably benign	Het
Rcsd1	A	G	1: 165,485,148 (GRCm39)	S102P	probably damaging	Het
Rfwd3	T	A	8: 111,999,707 (GRCm39)	N757I	possibly damaging	Het
Rnf217	A	T	10: 31,381,767 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,560,460 (GRCm39)	D1230G	probably damaging	Het
Sdc3	T	C	4: 130,545,886 (GRCm39)		probably benign	Het
Slc27a4	G	T	2: 29,695,974 (GRCm39)	D170Y	probably benign	Het
Tcof1	A	G	18: 60,981,815 (GRCm39)		probably benign	Het
Ticam1	T	A	17: 56,577,560 (GRCm39)	I512F	possibly damaging	Het
Ticrr	T	C	7: 79,343,767 (GRCm39)	C1211R	probably benign	Het
Tlr2	A	T	3: 83,744,678 (GRCm39)	N468K	possibly damaging	Het
Tmod4	T	C	3: 95,036,424 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,933,719 (GRCm39)	S2380P	probably benign	Het
Tox	A	G	4: 6,711,537 (GRCm39)	V309A	probably damaging	Het
Tpgs2	A	G	18: 25,273,637 (GRCm39)	F175L	possibly damaging	Het
Trim43b	A	G	9: 88,973,683 (GRCm39)	S17P	probably benign	Het
Ttc21a	G	T	9: 119,785,989 (GRCm39)	L662F	probably damaging	Het
Ubqln1	A	T	13: 58,339,951 (GRCm39)	N261K	probably damaging	Het
Umodl1	T	C	17: 31,205,091 (GRCm39)	V562A	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vars1	T	A	17: 35,220,478 (GRCm39)	I20N	probably damaging	Het
Vcan	T	C	13: 89,832,612 (GRCm39)	N3092D	probably damaging	Het
Zc3h6	G	T	2: 128,839,605 (GRCm39)	E139D	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
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
R9522:Top6bl	UTSW	19	4,677,274 (GRCm39)	missense	probably benign	0.02
Z1176:Top6bl	UTSW	19	4,675,931 (GRCm39)	missense	unknown

Posted On

2015-04-16