Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01473:Spz1'

88341

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spz1

Ensembl Gene

ENSMUSG00000046957

Gene Name

spermatogenic leucine zipper 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL01473

Quality Score

Status

Chromosome

Chromosomal Location

92574636-92576172 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 92575256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 237 (C237*)

Ref Sequence

ENSEMBL: ENSMUSP00000054083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050658]

AlphaFold

Q99MY0

Predicted Effect

probably null
Transcript: ENSMUST00000050658
AA Change: C237*

SMART Domains

Protein: ENSMUSP00000054083
Gene: ENSMUSG00000046957
AA Change: C237*

Domain	Start	End	E-Value	Type
coiled coil region	182	223	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bHLH-zip transcription factor which functions in the mitogen-activate protein kinase (MAPK) signaling pathway. Because of its role in the upregulation of cell proliferation and tumorigenesis, this gene may serve as a target for Ras-induced tumor treatments. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	T	C	16: 29,316,724	Y350C	probably damaging	Het
Ccdc151	C	A	9: 21,995,379		probably null	Het
Clca1	C	T	3: 145,007,778	M697I	probably benign	Het
Clcn1	C	A	6: 42,291,703	A181D	probably damaging	Het
Cylc1	G	T	X: 111,122,680	K243N	unknown	Het
Dsp	A	G	13: 38,167,571	Y122C	probably damaging	Het
Exoc5	A	G	14: 49,014,294	V665A	possibly damaging	Het
Fcho1	G	A	8: 71,712,138	P500S	probably benign	Het
Flg2	A	G	3: 93,203,020	E785G	unknown	Het
Fpr1	A	G	17: 17,877,692	S12P	possibly damaging	Het
Hydin	A	T	8: 110,312,160	M177L	probably benign	Het
Hydin	G	T	8: 110,354,953	G327V	probably damaging	Het
Itga10	G	A	3: 96,647,641	G97E	probably damaging	Het
Khdc1c	T	A	1: 21,368,906	Y39N	possibly damaging	Het
Lrp1b	T	G	2: 40,611,486	T202P	probably damaging	Het
March10	T	C	11: 105,389,605	K618R	probably damaging	Het
Mdc1	C	A	17: 35,848,020	L431I	probably benign	Het
Mmp17	A	G	5: 129,606,408	D536G	probably benign	Het
Myh8	G	A	11: 67,301,825		probably null	Het
Pop4	A	G	7: 38,264,396	V154A	probably benign	Het
Ppp1r13l	C	T	7: 19,375,268	R608C	probably damaging	Het
Prss36	T	C	7: 127,944,701	H166R	probably damaging	Het
Rab11fip3	C	T	17: 26,068,735	R148Q	possibly damaging	Het
Rbm39	T	A	2: 156,172,979	R49*	probably null	Het
S100a11	T	C	3: 93,526,106	C86R	probably damaging	Het
Skint7	T	C	4: 111,982,205	I232T	probably damaging	Het
Smchd1	G	A	17: 71,389,750	T1210I	probably benign	Het
Speg	C	T	1: 75,428,285	T2907I	possibly damaging	Het
Sun3	G	T	11: 9,029,394	D42E	probably benign	Het
Tgds	C	T	14: 118,128,214		probably benign	Het
Tnxb	G	A	17: 34,685,701	D1270N	probably damaging	Het
Vmn2r78	A	C	7: 86,920,312	T138P	possibly damaging	Het
Wdfy1	T	C	1: 79,707,465	I351V	probably benign	Het

Other mutations in Spz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Spz1	APN	13	92575521	missense	probably damaging	0.98
IGL01903:Spz1	APN	13	92574899	missense	probably damaging	0.99
IGL02312:Spz1	APN	13	92575885	missense	probably benign	0.01
IGL02343:Spz1	APN	13	92575546	missense	probably benign	0.00
IGL02969:Spz1	APN	13	92575343	missense	possibly damaging	0.82
R1255:Spz1	UTSW	13	92575630	missense	probably benign
R1756:Spz1	UTSW	13	92575125	missense	probably damaging	0.96
R1992:Spz1	UTSW	13	92575658	missense	possibly damaging	0.95
R3710:Spz1	UTSW	13	92575123	nonsense	probably null
R4431:Spz1	UTSW	13	92575329	missense	probably damaging	1.00
R5108:Spz1	UTSW	13	92575046	nonsense	probably null
R5922:Spz1	UTSW	13	92575598	missense	possibly damaging	0.81
R6724:Spz1	UTSW	13	92575484	missense	possibly damaging	0.59
R7166:Spz1	UTSW	13	92575927	missense	probably benign	0.00
R8145:Spz1	UTSW	13	92575101	missense	probably benign	0.01
R8945:Spz1	UTSW	13	92574991	missense	possibly damaging	0.89

Posted On

2013-11-18