Mutagenetix > Incidental Mutation

Incidental Mutation 'R7252:Zer1'

563965

Institutional Source

Beutler Lab

Gene Symbol

Zer1

Ensembl Gene

ENSMUSG00000039686

Gene Name

zyg-11 related, cell cycle regulator

Synonyms

Zyg11bl, C230075L19Rik

MMRRC Submission

045385-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R7252 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29987295-30014597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 29991904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 652 (S652A)

Ref Sequence

ENSEMBL: ENSMUSP00000046441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044751] [ENSMUST00000113677]

AlphaFold

Q80ZJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000044751
AA Change: S652A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: S652A

Domain	Start	End	E-Value	Type
SCOP:d1jdha_	405	774	3e-15	SMART
Blast:ARM	440	480	2e-18	BLAST
Blast:ARM	524	569	4e-24	BLAST
Blast:ARM	571	613	6e-22	BLAST
Blast:ARM	617	656	7e-8	BLAST
Blast:ARM	686	724	6e-18	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000113677
AA Change: S639A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: S639A

Domain	Start	End	E-Value	Type
SCOP:d1jdha_	392	761	3e-15	SMART
Blast:ARM	427	467	2e-18	BLAST
Blast:ARM	511	556	4e-24	BLAST
Blast:ARM	558	600	2e-21	BLAST
Blast:ARM	604	643	7e-8	BLAST
Blast:ARM	673	711	6e-18	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

99% (81/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Abcc2	T	A	19: 43,816,388 (GRCm39)	I1226N	probably damaging	Het
Adarb2	A	G	13: 8,620,216 (GRCm39)	E234G	probably benign	Het
Ankrd52	T	C	10: 128,217,865 (GRCm39)	S282P	probably damaging	Het
Arhgef12	A	T	9: 42,927,205 (GRCm39)	S306R	probably benign	Het
Baiap2	G	T	11: 119,893,865 (GRCm39)	A514S	probably benign	Het
BC030500	T	A	8: 59,364,838 (GRCm39)		probably null	Het
C1qtnf12	T	A	4: 156,047,072 (GRCm39)	W13R	unknown	Het
Ccdc158	A	G	5: 92,798,647 (GRCm39)	V351A	probably benign	Het
Cct8	T	C	16: 87,281,807 (GRCm39)	E485G	probably benign	Het
Cep85	T	C	4: 133,875,342 (GRCm39)	D542G	probably benign	Het
Clhc1	T	A	11: 29,513,937 (GRCm39)	S340R	probably benign	Het
Cnot4	A	T	6: 35,046,362 (GRCm39)	D168E	probably damaging	Het
Cntn5	G	A	9: 9,831,640 (GRCm39)	T375I	probably benign	Het
Ctc1	T	A	11: 68,917,000 (GRCm39)	I298N	probably damaging	Het
Dchs2	T	A	3: 83,232,610 (GRCm39)	N2198K	probably benign	Het
Ddx6	G	A	9: 44,535,050 (GRCm39)		probably null	Het
Defb11	A	G	8: 22,395,473 (GRCm39)	I68T	probably benign	Het
Dip2a	C	T	10: 76,109,036 (GRCm39)	V1212I	not run	Het
Dop1a	T	A	9: 86,382,874 (GRCm39)	I269N	probably damaging	Het
Efna3	C	T	3: 89,223,971 (GRCm39)	G73S	possibly damaging	Het
Fam98b	C	G	2: 117,094,373 (GRCm39)	R228G	probably damaging	Het
Fancd2	A	T	6: 113,533,246 (GRCm39)	N521I	probably damaging	Het
Farsa	A	G	8: 85,587,957 (GRCm39)	D134G	probably damaging	Het
Fat2	A	T	11: 55,202,088 (GRCm39)	F329I	probably damaging	Het
Gm14399	A	T	2: 174,974,991 (GRCm39)	I43K	probably damaging	Het
Gpr15	A	G	16: 58,538,760 (GRCm39)	S110P	probably damaging	Het
Gpr157	T	C	4: 150,183,331 (GRCm39)	V167A	probably benign	Het
Hacd4	A	G	4: 88,345,000 (GRCm39)	I134T	possibly damaging	Het
Hpgd	T	A	8: 56,751,461 (GRCm39)	N96K	probably damaging	Het
Insm2	A	T	12: 55,647,305 (GRCm39)	T350S	probably benign	Het
Iqch	C	T	9: 63,419,518 (GRCm39)		probably null	Het
Kmt2d	A	G	15: 98,742,147 (GRCm39)	S4338P	unknown	Het
Krtap9-3	A	G	11: 99,488,796 (GRCm39)	S29P	probably benign	Het
Kyat3	T	A	3: 142,426,219 (GRCm39)	S87T	probably benign	Het
Minar2	A	G	18: 59,199,980 (GRCm39)		probably null	Het
Mrpl46	T	C	7: 78,430,336 (GRCm39)	T145A	probably benign	Het
Neb	A	G	2: 52,214,973 (GRCm39)		probably null	Het
Or2aj5	A	T	16: 19,425,249 (GRCm39)	H55Q	probably damaging	Het
Or4c124	T	A	2: 89,156,629 (GRCm39)		probably benign	Het
Or6x1	C	T	9: 40,098,657 (GRCm39)	T82I	probably benign	Het
Or7g17	A	G	9: 18,768,548 (GRCm39)	Y200C	probably damaging	Het
Or9a7	A	G	6: 40,521,703 (GRCm39)	I70T	probably benign	Het
Otogl	T	C	10: 107,657,804 (GRCm39)	D1042G	probably benign	Het
Paxip1	C	T	5: 27,965,084 (GRCm39)	V659I	probably damaging	Het
Pfkl	A	G	10: 77,829,263 (GRCm39)	W382R	probably damaging	Het
Pfn1	A	G	11: 70,545,297 (GRCm39)	W4R	probably damaging	Het
Pik3c2b	G	A	1: 133,022,472 (GRCm39)	R1138H	probably benign	Het
Pkd1l3	A	G	8: 110,387,330 (GRCm39)	D1758G	probably benign	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pramel29	T	C	4: 143,939,510 (GRCm39)	D9G	possibly damaging	Het
Prdm12	A	G	2: 31,532,386 (GRCm39)	N132S	possibly damaging	Het
Prokr2	T	A	2: 132,223,360 (GRCm39)	M61L	probably benign	Het
Ralgapa2	T	C	2: 146,184,671 (GRCm39)		probably null	Het
Ralgps1	A	T	2: 33,058,200 (GRCm39)	D301E	probably benign	Het
Rcbtb2	T	C	14: 73,404,220 (GRCm39)	Y231H	probably damaging	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Relb	C	A	7: 19,346,538 (GRCm39)	E345*	probably null	Het
Rhbdl3	A	C	11: 80,228,411 (GRCm39)	M294L	possibly damaging	Het
Rpl24	G	A	16: 55,790,479 (GRCm39)	A112T	possibly damaging	Het
Rsbn1l	C	T	5: 21,113,196 (GRCm39)	R442Q	probably damaging	Het
Rxfp3	A	T	15: 11,036,025 (GRCm39)	I449N	probably benign	Het
Sema4c	A	C	1: 36,589,096 (GRCm39)	C677G	probably damaging	Het
Sf3b3	A	C	8: 111,566,562 (GRCm39)	I256S	probably damaging	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Slc39a6	G	T	18: 24,734,442 (GRCm39)	N82K	possibly damaging	Het
Slc3a2	T	C	19: 8,700,521 (GRCm39)		probably benign	Het
Stard13	T	C	5: 150,986,634 (GRCm39)	Q292R	probably benign	Het
Tgm6	A	G	2: 129,986,884 (GRCm39)	R451G	probably damaging	Het
Tspo	G	T	15: 83,456,466 (GRCm39)	G83V	probably damaging	Het
Ubxn10	T	C	4: 138,448,187 (GRCm39)	Q163R	probably benign	Het
Ushbp1	A	G	8: 71,847,246 (GRCm39)	S129P	probably benign	Het
Vmn2r23	T	A	6: 123,718,540 (GRCm39)	V631D	probably damaging	Het
Vmn2r24	T	C	6: 123,764,191 (GRCm39)	I356T	possibly damaging	Het
Vmn2r84	C	T	10: 130,222,279 (GRCm39)	C647Y	probably damaging	Het
Vps13a	T	C	19: 16,638,428 (GRCm39)	E2356G	probably benign	Het
Wdr64	A	G	1: 175,603,240 (GRCm39)	T614A	probably benign	Het
Zdhhc16	G	T	19: 41,929,990 (GRCm39)	W271L	probably damaging	Het
Zfp287	A	G	11: 62,615,655 (GRCm39)	V224A	probably damaging	Het
Zfp438	A	T	18: 5,214,874 (GRCm39)	L28*	probably null	Het
Zfp830	G	A	11: 82,655,534 (GRCm39)	A113T	probably benign	Het
Zfp865	G	T	7: 5,037,416 (GRCm39)		probably benign	Het

Other mutations in Zer1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Zer1	APN	2	29,998,232 (GRCm39)	critical splice donor site	probably null
IGL01630:Zer1	APN	2	29,991,843 (GRCm39)	missense	probably damaging	1.00
IGL02126:Zer1	APN	2	29,994,928 (GRCm39)	missense	probably benign	0.10
IGL02338:Zer1	APN	2	30,003,405 (GRCm39)	missense	probably damaging	1.00
IGL02817:Zer1	APN	2	29,993,406 (GRCm39)	missense	probably damaging	0.99
PIT4402001:Zer1	UTSW	2	29,991,132 (GRCm39)	missense	probably damaging	0.96
PIT4495001:Zer1	UTSW	2	29,993,555 (GRCm39)	missense	probably benign	0.01
R0390:Zer1	UTSW	2	29,998,225 (GRCm39)	splice site	probably benign
R0506:Zer1	UTSW	2	29,991,819 (GRCm39)	missense	probably damaging	1.00
R0606:Zer1	UTSW	2	29,994,809 (GRCm39)	splice site	probably benign
R0928:Zer1	UTSW	2	29,991,775 (GRCm39)	critical splice donor site	probably null
R1167:Zer1	UTSW	2	29,998,258 (GRCm39)	missense	probably benign	0.00
R1819:Zer1	UTSW	2	30,000,230 (GRCm39)	missense	probably benign	0.18
R2040:Zer1	UTSW	2	29,998,286 (GRCm39)	missense	probably damaging	1.00
R2041:Zer1	UTSW	2	29,998,286 (GRCm39)	missense	probably damaging	1.00
R2042:Zer1	UTSW	2	29,998,286 (GRCm39)	missense	probably damaging	1.00
R2092:Zer1	UTSW	2	29,998,286 (GRCm39)	missense	probably damaging	1.00
R2168:Zer1	UTSW	2	29,994,887 (GRCm39)	missense	probably damaging	1.00
R2243:Zer1	UTSW	2	29,991,139 (GRCm39)	missense	probably damaging	0.99
R2254:Zer1	UTSW	2	29,998,286 (GRCm39)	missense	probably damaging	1.00
R2255:Zer1	UTSW	2	29,998,286 (GRCm39)	missense	probably damaging	1.00
R2311:Zer1	UTSW	2	29,991,834 (GRCm39)	missense	probably damaging	0.99
R2993:Zer1	UTSW	2	29,991,909 (GRCm39)	missense	probably damaging	1.00
R3010:Zer1	UTSW	2	30,003,297 (GRCm39)	missense	probably benign	0.13
R3731:Zer1	UTSW	2	30,000,923 (GRCm39)	missense	probably benign	0.44
R4038:Zer1	UTSW	2	29,997,535 (GRCm39)	missense	probably damaging	1.00
R5241:Zer1	UTSW	2	29,994,982 (GRCm39)	missense	probably damaging	1.00
R5433:Zer1	UTSW	2	29,990,998 (GRCm39)	intron	probably benign
R5443:Zer1	UTSW	2	30,001,008 (GRCm39)	missense	probably damaging	1.00
R5524:Zer1	UTSW	2	29,994,866 (GRCm39)	missense	probably damaging	1.00
R5936:Zer1	UTSW	2	29,997,679 (GRCm39)	missense	probably damaging	0.97
R5999:Zer1	UTSW	2	29,995,009 (GRCm39)	missense	probably damaging	1.00
R6598:Zer1	UTSW	2	30,003,286 (GRCm39)	missense	probably damaging	1.00
R6965:Zer1	UTSW	2	29,991,059 (GRCm39)	missense	possibly damaging	0.87
R7030:Zer1	UTSW	2	30,001,033 (GRCm39)	missense	probably benign	0.00
R7190:Zer1	UTSW	2	29,993,444 (GRCm39)	missense	probably damaging	1.00
R7218:Zer1	UTSW	2	29,995,024 (GRCm39)	missense	probably damaging	1.00
R7383:Zer1	UTSW	2	30,001,253 (GRCm39)	missense	probably damaging	1.00
R7417:Zer1	UTSW	2	29,992,834 (GRCm39)	missense	probably damaging	1.00
R7459:Zer1	UTSW	2	30,003,337 (GRCm39)	missense	probably damaging	1.00
R7463:Zer1	UTSW	2	30,003,449 (GRCm39)	start gained	probably benign
R7466:Zer1	UTSW	2	29,991,496 (GRCm39)	splice site	probably null
R7477:Zer1	UTSW	2	29,997,988 (GRCm39)	missense	probably null	0.34
R7719:Zer1	UTSW	2	30,001,243 (GRCm39)	missense	probably damaging	1.00
R7813:Zer1	UTSW	2	30,000,385 (GRCm39)	missense	probably damaging	1.00
R7976:Zer1	UTSW	2	29,997,520 (GRCm39)	missense	probably damaging	0.99
R8239:Zer1	UTSW	2	29,991,147 (GRCm39)	critical splice acceptor site	probably null
R8350:Zer1	UTSW	2	29,991,862 (GRCm39)	missense	probably damaging	1.00
R8404:Zer1	UTSW	2	29,995,035 (GRCm39)	critical splice acceptor site	probably null
R8842:Zer1	UTSW	2	30,001,062 (GRCm39)	missense	possibly damaging	0.65
R8896:Zer1	UTSW	2	29,993,430 (GRCm39)	missense	probably damaging	0.99
R8906:Zer1	UTSW	2	30,001,035 (GRCm39)	missense	probably benign	0.31
R8929:Zer1	UTSW	2	30,000,881 (GRCm39)	missense	probably damaging	1.00
R9050:Zer1	UTSW	2	30,001,294 (GRCm39)	missense	probably damaging	1.00
R9066:Zer1	UTSW	2	30,000,686 (GRCm39)	missense	probably damaging	1.00
R9277:Zer1	UTSW	2	30,001,297 (GRCm39)	missense	probably benign	0.00
R9322:Zer1	UTSW	2	30,000,923 (GRCm39)	missense	probably benign	0.00
R9577:Zer1	UTSW	2	29,991,050 (GRCm39)	missense	probably damaging	1.00
R9733:Zer1	UTSW	2	29,997,643 (GRCm39)	missense	probably benign	0.00
X0026:Zer1	UTSW	2	29,994,907 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTTGAGACAAGCAGCTTCTG -3'
(R):5'- GCCAGCCTGACTCAAAAGTAG -3'

Sequencing Primer
(F):5'- GAGACAAGCAGCTTCTGATTCTC -3'
(R):5'- CCAAGTGATTTTCAGCTGAGCAG -3'

Posted On

2019-06-26