Mutagenetix > Incidental Mutation

Incidental Mutation 'R7417:Zer1'

575356

Institutional Source

Beutler Lab

Gene Symbol

Zer1

Ensembl Gene

ENSMUSG00000039686

Gene Name

zyg-11 related, cell cycle regulator

Synonyms

Zyg11bl, C230075L19Rik

MMRRC Submission

045495-MU

Accession Numbers

Essential gene?

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

Stock #

R7417 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29987295-30014597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29992834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 600 (L600P)

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: L600P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: L600P

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: L587P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: L587P

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: 99.2%

Validation Efficiency

100% (79/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	G	A	17: 48,460,057 (GRCm39)	T213I	probably damaging	Het
Akr1b7	G	A	6: 34,394,300 (GRCm39)		probably null	Het
Aldh6a1	T	C	12: 84,488,556 (GRCm39)	Q110R	probably benign	Het
Alg11	A	T	8: 22,552,044 (GRCm39)	T63S	probably benign	Het
Ankrd13b	A	G	11: 77,367,020 (GRCm39)	Y271H	probably damaging	Het
Ano8	T	A	8: 71,933,477 (GRCm39)	D605V	unknown	Het
Best2	C	T	8: 85,736,295 (GRCm39)		probably null	Het
Brca1	A	G	11: 101,415,807 (GRCm39)	S776P	probably damaging	Het
Capn7	T	C	14: 31,092,663 (GRCm39)	Y737H	probably damaging	Het
Cblc	A	T	7: 19,522,899 (GRCm39)	S333T	probably benign	Het
Ccm2	T	A	11: 6,543,091 (GRCm39)	M257K	probably benign	Het
Cd320	T	A	17: 34,066,530 (GRCm39)	C103*	probably null	Het
Cd53	A	G	3: 106,676,235 (GRCm39)	F44S	probably benign	Het
Col9a2	G	A	4: 120,911,489 (GRCm39)	R610H	not run	Het
Cubn	T	C	2: 13,431,778 (GRCm39)	I1272V	probably benign	Het
Cyp2j7	C	T	4: 96,090,225 (GRCm39)		probably null	Het
Dmrt2	A	T	19: 25,655,962 (GRCm39)	R520S	probably benign	Het
Dnai3	A	T	3: 145,798,835 (GRCm39)		probably null	Het
Drg2	A	G	11: 60,345,506 (GRCm39)	M1V	probably null	Het
Ect2	A	G	3: 27,152,568 (GRCm39)	S908P	probably damaging	Het
Eipr1	A	G	12: 28,916,954 (GRCm39)	T341A	probably benign	Het
Ell3	A	C	2: 121,270,891 (GRCm39)	I214R	probably benign	Het
Emsy	A	T	7: 98,264,693 (GRCm39)	L568Q	probably damaging	Het
Foxd4	T	C	19: 24,877,826 (GRCm39)	T125A	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Gcsam	C	A	16: 45,440,240 (GRCm39)	H94Q	probably damaging	Het
Ginm1	T	A	10: 7,649,844 (GRCm39)	I150F	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hk2	G	A	6: 82,720,326 (GRCm39)	A205V	probably damaging	Het
Il3ra	A	T	14: 14,349,345 (GRCm38)	H147L	probably benign	Het
Map3k6	T	A	4: 132,975,707 (GRCm39)	S732T	probably benign	Het
Masp2	A	G	4: 148,690,178 (GRCm39)	E229G	probably benign	Het
Mccc2	A	G	13: 100,108,285 (GRCm39)		probably null	Het
Mia3	A	G	1: 183,108,508 (GRCm39)	V359A		Het
Mob1a	A	T	6: 83,309,492 (GRCm39)	T80S	probably benign	Het
Msantd2	G	A	9: 37,434,590 (GRCm39)	G478S	probably damaging	Het
Mtf1	A	G	4: 124,718,974 (GRCm39)	E329G	probably null	Het
Myh9	T	A	15: 77,648,065 (GRCm39)	K1804*	probably null	Het
Ndst3	A	G	3: 123,465,313 (GRCm39)	W220R	probably damaging	Het
Nln	A	G	13: 104,173,478 (GRCm39)	L576P	probably damaging	Het
Nlrc4	A	G	17: 74,753,483 (GRCm39)	M300T	probably benign	Het
Obscn	G	T	11: 59,020,403 (GRCm39)	D880E	possibly damaging	Het
Oprd1	T	C	4: 131,844,763 (GRCm39)	T82A	probably damaging	Het
Or2n1d	T	A	17: 38,646,183 (GRCm39)	I45N	probably damaging	Het
Or4f60	A	C	2: 111,902,445 (GRCm39)	V161G	probably benign	Het
Orc3	A	G	4: 34,595,136 (GRCm39)	C278R	probably damaging	Het
Pde4d	T	A	13: 109,769,322 (GRCm39)		probably null	Het
Pms1	T	C	1: 53,236,231 (GRCm39)	E683G	probably benign	Het
Prdm2	A	T	4: 142,905,869 (GRCm39)	Y73N	probably damaging	Het
Prkaa2	T	C	4: 104,932,740 (GRCm39)	Q36R	probably benign	Het
Psg22	A	G	7: 18,456,891 (GRCm39)	E258G	probably damaging	Het
Ptprf	T	C	4: 118,069,369 (GRCm39)	D1566G	probably damaging	Het
Rfwd3	T	A	8: 111,999,701 (GRCm39)	Y759F	probably benign	Het
Ripor2	A	G	13: 24,880,533 (GRCm39)	D411G	probably damaging	Het
Ryr2	A	C	13: 11,571,634 (GRCm39)		probably null	Het
Sdr42e1	T	C	8: 118,389,490 (GRCm39)	T384A	probably benign	Het
Sec1	A	T	7: 45,334,149 (GRCm39)		probably null	Het
Sec16a	A	T	2: 26,311,409 (GRCm39)	F616I		Het
Sipa1l2	T	C	8: 126,208,845 (GRCm39)	D521G	possibly damaging	Het
Smc1b	T	A	15: 84,981,743 (GRCm39)	Q759L	probably benign	Het
Snph	A	T	2: 151,442,263 (GRCm39)	S57R	probably damaging	Het
Sqor	A	T	2: 122,629,450 (GRCm39)	T103S	probably benign	Het
Srbd1	A	G	17: 86,443,749 (GRCm39)	V159A	probably benign	Het
Srsf2	A	T	11: 116,743,727 (GRCm39)	V10E	probably damaging	Het
Swap70	T	A	7: 109,863,316 (GRCm39)		probably null	Het
Synm	A	C	7: 67,382,954 (GRCm39)	*675G	probably null	Het
Tek	A	G	4: 94,699,582 (GRCm39)	E320G	probably benign	Het
Tenm3	T	C	8: 48,689,218 (GRCm39)	D2123G	probably damaging	Het
Tmod4	A	G	3: 95,033,174 (GRCm39)	K56R	possibly damaging	Het
Top3b	G	A	16: 16,695,714 (GRCm39)		probably benign	Het
Tssc4	G	T	7: 142,624,425 (GRCm39)	E244D	possibly damaging	Het
Twnk	G	A	19: 44,999,003 (GRCm39)		probably null	Het
Ube4a	A	C	9: 44,868,011 (GRCm39)	I45S	probably benign	Het
Unc79	A	T	12: 103,055,017 (GRCm39)	M954L	possibly damaging	Het
Vcpip1	A	T	1: 9,816,540 (GRCm39)	D614E	probably benign	Het
Vmn1r45	T	A	6: 89,910,035 (GRCm39)	I312L	probably benign	Het
Vmn1r77	A	G	7: 11,775,611 (GRCm39)	Y129C	probably damaging	Het
Zfp266	T	C	9: 20,412,232 (GRCm39)	T114A	probably benign	Het
Zrsr2-ps1	T	C	11: 22,924,662 (GRCm39)		probably null	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
R7252:Zer1	UTSW	2	29,991,904 (GRCm39)	missense	probably damaging	0.99
R7383:Zer1	UTSW	2	30,001,253 (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'- GCAGTATCAAGAACAGAAACTGG -3'
(R):5'- GTGGAGCCACAATCCTCCCA -3'

Sequencing Primer
(F):5'- CTGGACAGAGCACAGTGTTCAC -3'
(R):5'- AAGTCAGCTCTCTTCGGGG -3'

Posted On

2019-10-07