Mutagenetix > Incidental Mutation

Incidental Mutation 'R3010:Zer1'

257475

Institutional Source

Beutler Lab

Gene Symbol

Zer1

Ensembl Gene

ENSMUSG00000039686

Gene Name

zyg-11 related, cell cycle regulator

Synonyms

Zyg11bl, C230075L19Rik

Accession Numbers

Essential gene?

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

Stock #

R3010 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

29987295-30014597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30003297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 40 (I40T)

Ref Sequence

ENSEMBL: ENSMUSP00000109307 (fasta)

Gene Model

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

AlphaFold

Q80ZJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000044751
AA Change: I40T

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: I40T

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 benign
Transcript: ENSMUST00000113677
AA Change: I40T

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: I40T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139128

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154231

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc8	T	C	9: 99,369,966 (GRCm39)	E591G	probably benign	Het
Cers5	A	G	15: 99,670,598 (GRCm39)		probably benign	Het
Cgrrf1	T	C	14: 47,091,223 (GRCm39)	V249A	probably benign	Het
Kctd1	T	C	18: 15,107,143 (GRCm39)	E178G	probably damaging	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Mx2	T	C	16: 97,347,999 (GRCm39)	V208A	possibly damaging	Het
Pacs2	T	C	12: 113,024,700 (GRCm39)	S427P	probably benign	Het
Pdzrn4	A	G	15: 92,667,692 (GRCm39)	I615V	probably benign	Het
Ptpn1	C	A	2: 167,816,742 (GRCm39)	Q266K	probably damaging	Het
Snx18	G	A	13: 113,753,422 (GRCm39)	Q504*	probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
Tbx15	A	G	3: 99,161,209 (GRCm39)		probably benign	Het
Tdrd6	G	A	17: 43,938,933 (GRCm39)	T705I	probably benign	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Vmn2r113	T	C	17: 23,177,105 (GRCm39)	S630P	probably damaging	Het
Zdbf2	T	A	1: 63,342,224 (GRCm39)	V201D	possibly damaging	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
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
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'- ACGTTCTGTGCTGCATAATCC -3'
(R):5'- GCTCTGCCAATGATCTTGTG -3'

Sequencing Primer
(F):5'- GTGCTGCATAATCCTACATGTATACC -3'
(R):5'- GATTATTGGTAATCCATAGTTGCCC -3'

Posted On

2015-01-11