Mutagenetix > Incidental Mutation

Incidental Mutation 'R0671:Top6bl'

216167

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

038856-MU

Accession Numbers

Essential gene?

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

Stock #

R0671 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

4675762-4748696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4676216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 639 (S639P)

Ref Sequence

ENSEMBL: ENSMUSP00000136515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025823] [ENSMUST00000068004] [ENSMUST00000113825] [ENSMUST00000177696] [ENSMUST00000224675] [ENSMUST00000225896] [ENSMUST00000224707] [ENSMUST00000225476] [ENSMUST00000224726] [ENSMUST00000225264] [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 benign
Transcript: ENSMUST00000068004

SMART Domains

Protein: ENSMUSP00000063825
Gene: ENSMUSG00000024892

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC
Pfam:CPSase_L_chain	37	147	3.3e-45	PFAM
Pfam:ATP-grasp_4	149	334	3.9e-19	PFAM
Pfam:CPSase_L_D2	152	361	7.2e-77	PFAM
Pfam:Dala_Dala_lig_C	161	329	1.5e-11	PFAM
Biotin_carb_C	376	483	1.21e-50	SMART
low complexity region	513	541	N/A	INTRINSIC
Pfam:HMGL-like	564	838	8.2e-29	PFAM
Pfam:PYC_OADA	862	1062	1.4e-72	PFAM
Pfam:Biotin_lipoyl	1111	1178	1.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113825

SMART Domains

Protein: ENSMUSP00000109456
Gene: ENSMUSG00000024892

Domain	Start	End	E-Value	Type
low complexity region	7	21	N/A	INTRINSIC
Pfam:CPSase_L_chain	36	146	1.1e-43	PFAM
Pfam:ATP-grasp_4	148	332	2.9e-19	PFAM
Pfam:CPSase_L_D2	151	360	4.2e-77	PFAM
Pfam:Dala_Dala_lig_C	158	328	7.9e-13	PFAM
Biotin_carb_C	375	482	1.21e-50	SMART
low complexity region	512	540	N/A	INTRINSIC
Pfam:HMGL-like	571	821	3.4e-28	PFAM
Pfam:PYC_OADA	861	1062	3.4e-69	PFAM
Pfam:Biotin_lipoyl	1110	1177	1.8e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177696
AA Change: S639P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136515
Gene: ENSMUSG00000071691
AA Change: S639P

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: ENSMUST00000225896
AA Change: S485P

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000224707

Predicted Effect

probably benign
Transcript: ENSMUST00000225476

Predicted Effect

probably benign
Transcript: ENSMUST00000224726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226012

Predicted Effect

probably benign
Transcript: ENSMUST00000225264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225285

Predicted Effect

probably benign
Transcript: ENSMUST00000225375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225509

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

99% (125/126)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	T	C	8: 84,729,637 (GRCm39)		probably benign	Het
A530064D06Rik	G	A	17: 48,473,824 (GRCm39)	T31I	probably benign	Het
Abca17	A	G	17: 24,500,223 (GRCm39)	F1323L	probably benign	Het
Abcf3	T	A	16: 20,369,237 (GRCm39)	N206K	probably damaging	Het
Adam10	A	G	9: 70,673,223 (GRCm39)		probably benign	Het
Adamtsl3	A	T	7: 82,172,390 (GRCm39)	Q451L	probably damaging	Het
Adgrl3	T	A	5: 81,708,752 (GRCm39)	I413N	probably benign	Het
Asb18	G	T	1: 89,920,893 (GRCm39)	A128E	probably damaging	Het
Atf7ip2	T	C	16: 10,059,743 (GRCm39)	S428P	possibly damaging	Het
Atp8b5	G	T	4: 43,291,672 (GRCm39)	C15F	possibly damaging	Het
Bahcc1	A	G	11: 120,178,146 (GRCm39)	E2235G	probably damaging	Het
Blnk	G	T	19: 40,926,111 (GRCm39)	S330*	probably null	Het
Bpnt1	T	G	1: 185,088,808 (GRCm39)	N319K	probably benign	Het
Brip1	G	A	11: 86,043,493 (GRCm39)	T357I	possibly damaging	Het
Cadm1	T	A	9: 47,725,104 (GRCm39)	D288E	probably benign	Het
Calcoco2	A	G	11: 95,998,354 (GRCm39)	V23A	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Ccdc154	G	T	17: 25,386,259 (GRCm39)		probably benign	Het
Cdk12	T	C	11: 98,120,935 (GRCm39)		probably benign	Het
Clec4a3	A	G	6: 122,930,993 (GRCm39)		probably null	Het
Cpne2	T	A	8: 95,274,970 (GRCm39)		probably benign	Het
Cyfip1	T	C	7: 55,573,710 (GRCm39)		probably null	Het
Cyp26c1	A	G	19: 37,675,009 (GRCm39)	H110R	probably damaging	Het
Cyp2j13	A	G	4: 95,959,932 (GRCm39)	Y75H	probably damaging	Het
Defb43	T	A	14: 63,249,287 (GRCm39)	V10D	probably damaging	Het
Dhx36	G	A	3: 62,401,162 (GRCm39)	S368L	possibly damaging	Het
Dock6	G	A	9: 21,715,923 (GRCm39)		probably benign	Het
Elp2	T	C	18: 24,745,499 (GRCm39)		probably benign	Het
Emilin3	A	G	2: 160,750,249 (GRCm39)	L453P	probably damaging	Het
Eml6	A	T	11: 29,755,065 (GRCm39)	D903E	probably benign	Het
Ep300	T	C	15: 81,500,335 (GRCm39)		probably benign	Het
Ep400	G	A	5: 110,836,062 (GRCm39)	T1899M	unknown	Het
Fancg	A	G	4: 43,002,998 (GRCm39)	S620P	probably benign	Het
Fbxo42	G	A	4: 140,922,550 (GRCm39)	V239M	probably damaging	Het
Fermt2	T	C	14: 45,706,776 (GRCm39)	D340G	probably benign	Het
Filip1	A	T	9: 79,726,672 (GRCm39)	V649E	probably damaging	Het
Fut8	G	A	12: 77,521,791 (GRCm39)	E477K	probably damaging	Het
Gbp3	G	A	3: 142,271,151 (GRCm39)	G185D	probably benign	Het
Gclc	G	T	9: 77,694,080 (GRCm39)	D345Y	probably damaging	Het
Gfus	A	G	15: 75,800,807 (GRCm39)	V27A	possibly damaging	Het
Gkn2	A	G	6: 87,352,800 (GRCm39)	D43G	possibly damaging	Het
Gnptab	A	G	10: 88,279,166 (GRCm39)		probably benign	Het
Greb1l	C	T	18: 10,474,303 (GRCm39)	T206I	probably damaging	Het
Grk4	A	G	5: 34,905,611 (GRCm39)	N452S	probably benign	Het
Hcn2	G	C	10: 79,570,066 (GRCm39)		probably null	Het
Hpn	T	C	7: 30,808,585 (GRCm39)	K76E	possibly damaging	Het
Hspg2	A	G	4: 137,280,591 (GRCm39)	D3268G	probably damaging	Het
Immt	A	T	6: 71,848,541 (GRCm39)	Q467L	possibly damaging	Het
Kalrn	T	C	16: 33,936,778 (GRCm39)	S1636G	probably benign	Het
Kcnh8	T	A	17: 53,285,141 (GRCm39)	L1037*	probably null	Het
Klhl33	T	C	14: 51,129,851 (GRCm39)	T548A	probably damaging	Het
Klri2	T	C	6: 129,717,171 (GRCm39)	I71V	probably benign	Het
Kmt2c	A	T	5: 25,609,363 (GRCm39)	C254S	probably damaging	Het
Lama3	T	C	18: 12,610,647 (GRCm39)	I1170T	possibly damaging	Het
Med12l	A	G	3: 59,172,350 (GRCm39)	Q1702R	probably damaging	Het
Mga	A	T	2: 119,750,391 (GRCm39)		probably null	Het
Mis18a	A	T	16: 90,517,561 (GRCm39)	I172K	possibly damaging	Het
Mrgpre	T	C	7: 143,335,254 (GRCm39)	D83G	probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mrpl39	T	C	16: 84,531,282 (GRCm39)		probably benign	Het
Mrrf	C	T	2: 36,043,710 (GRCm39)	A149V	probably benign	Het
Mycbp2	A	T	14: 103,432,024 (GRCm39)	M2338K	possibly damaging	Het
Myo18b	T	C	5: 112,840,632 (GRCm39)	Q2387R	probably benign	Het
N4bp2	T	C	5: 65,964,780 (GRCm39)	I943T	probably damaging	Het
Ncapd3	T	A	9: 26,998,773 (GRCm39)	N1254K	probably benign	Het
Ncoa1	A	T	12: 4,299,758 (GRCm39)		probably null	Het
Ncor2	C	T	5: 125,126,451 (GRCm39)	A136T	probably benign	Het
Opa1	T	C	16: 29,421,025 (GRCm39)		probably benign	Het
Or13a25	A	G	7: 140,247,590 (GRCm39)	D123G	probably damaging	Het
Or5p59	C	A	7: 107,703,363 (GRCm39)	Y282*	probably null	Het
Or8b39	T	A	9: 37,996,423 (GRCm39)	M97K	possibly damaging	Het
Or9e1	T	A	11: 58,732,681 (GRCm39)	I247N	possibly damaging	Het
Pcdhb4	T	C	18: 37,440,795 (GRCm39)	M35T	probably benign	Het
Per3	T	C	4: 151,113,288 (GRCm39)	I347V	probably benign	Het
Pex13	G	A	11: 23,615,831 (GRCm39)	P5L	possibly damaging	Het
Phkb	T	A	8: 86,602,322 (GRCm39)	W38R	probably damaging	Het
Plekhf1	A	T	7: 37,920,826 (GRCm39)	D247E	probably benign	Het
Plxnb2	A	G	15: 89,042,184 (GRCm39)	S1607P	probably benign	Het
Plxnc1	T	A	10: 94,635,194 (GRCm39)	H1344L	possibly damaging	Het
Potefam1	A	C	2: 111,034,482 (GRCm39)	V350G	possibly damaging	Het
Ptk7	T	G	17: 46,901,238 (GRCm39)	N196H	possibly damaging	Het
Rab27a	G	T	9: 72,982,715 (GRCm39)	D7Y	probably damaging	Het
Rars2	T	A	4: 34,630,505 (GRCm39)	C82*	probably null	Het
Rccd1	A	T	7: 79,969,965 (GRCm39)		probably benign	Het
Riiad1	T	C	3: 94,379,546 (GRCm39)	I56V	possibly damaging	Het
Rnase4	A	G	14: 51,342,507 (GRCm39)	E77G	probably damaging	Het
Rnf126	A	T	10: 79,597,441 (GRCm39)	I157N	possibly damaging	Het
Rnf207	T	C	4: 152,391,925 (GRCm39)	R623G	probably benign	Het
Rpusd1	T	G	17: 25,947,498 (GRCm39)	F62V	possibly damaging	Het
Rxfp1	T	C	3: 79,570,600 (GRCm39)		probably null	Het
Scfd1	A	T	12: 51,459,411 (GRCm39)	Q324L	probably benign	Het
Skint3	G	T	4: 112,112,974 (GRCm39)	E195*	probably null	Het
Slc7a10	A	T	7: 34,896,758 (GRCm39)	T165S	probably benign	Het
Smagp	A	G	15: 100,519,733 (GRCm39)	I97T	probably damaging	Het
Sostdc1	A	G	12: 36,367,340 (GRCm39)	H172R	probably damaging	Het
Spast	A	G	17: 74,646,446 (GRCm39)		probably benign	Het
Sspo	G	T	6: 48,467,325 (GRCm39)		probably benign	Het
Ston2	C	T	12: 91,707,240 (GRCm39)		probably null	Het
Tas2r103	T	G	6: 133,013,313 (GRCm39)	E251A	probably benign	Het
Tbc1d2b	A	T	9: 90,104,558 (GRCm39)		probably benign	Het
Telo2	G	A	17: 25,332,139 (GRCm39)	P143L	probably benign	Het
Tgfbi	A	T	13: 56,786,539 (GRCm39)	Y674F	probably null	Het
Tha1	T	A	11: 117,763,983 (GRCm39)		probably benign	Het
Timp4	T	A	6: 115,226,814 (GRCm39)	S110C	probably damaging	Het
Tlr6	T	C	5: 65,111,935 (GRCm39)	K324R	probably benign	Het
Tnip3	A	G	6: 65,574,347 (GRCm39)	E137G	probably damaging	Het
Trak1	T	C	9: 121,278,021 (GRCm39)		probably null	Het
Trim47	A	G	11: 115,999,178 (GRCm39)	S233P	probably benign	Het
Tspoap1	A	T	11: 87,653,635 (GRCm39)	E155V	probably damaging	Het
Uggt1	A	T	1: 36,194,209 (GRCm39)	L1343Q	probably damaging	Het
Utp14b	T	C	1: 78,642,452 (GRCm39)	S117P	probably benign	Het
Vmn1r124	A	T	7: 20,994,436 (GRCm39)	V36D	probably damaging	Het
Wdr27	T	C	17: 15,148,658 (GRCm39)	T112A	probably benign	Het
Wdr90	T	C	17: 26,065,367 (GRCm39)	T1630A	probably benign	Het
Zfp352	A	G	4: 90,112,156 (GRCm39)	T99A	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
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

Predicted Primers

PCR Primer
(F):5'- CAGCCACTCGGACAGATTGGATAC -3'
(R):5'- ATGTCGCCTATCATGGGAGGTCAG -3'

Sequencing Primer
(F):5'- GACAGATTGGATACCTCCTGTAGC -3'
(R):5'- CTATCATGGGAGGTCAGGTACTG -3'

Posted On

2014-07-25