Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02312:Spz1'

287854

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spz1

Ensembl Gene

ENSMUSG00000046957

Gene Name

spermatogenic leucine zipper 1

Synonyms

1700027M20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL02312

Quality Score

Status

Chromosome

Chromosomal Location

92711144-92712680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92712393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 28 (P28S)

Ref Sequence

ENSEMBL: ENSMUSP00000054083 (fasta)

Gene Model

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

AlphaFold

Q99MY0

Predicted Effect

probably benign
Transcript: ENSMUST00000050658
AA Change: P28S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000054083
Gene: ENSMUSG00000046957
AA Change: P28S

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,060,369 (GRCm39)	V454E	probably damaging	Het
Atp7b	G	T	8: 22,484,786 (GRCm39)	Q1424K	probably damaging	Het
Bicra	T	C	7: 15,727,066 (GRCm39)	D30G	possibly damaging	Het
Cdhr2	A	G	13: 54,865,701 (GRCm39)	D233G	probably null	Het
Clint1	C	T	11: 45,784,883 (GRCm39)	T294M	probably damaging	Het
Cntnap5c	C	T	17: 58,445,694 (GRCm39)	T578I	probably benign	Het
Col12a1	G	T	9: 79,588,797 (GRCm39)	T1106N	probably damaging	Het
Csta3	A	G	16: 36,030,847 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,896,430 (GRCm39)	Y3598C	probably damaging	Het
Dnaja3	A	G	16: 4,512,300 (GRCm39)	T235A	probably benign	Het
Eif2s1	T	C	12: 78,926,790 (GRCm39)	I180T	probably damaging	Het
Ergic1	C	A	17: 26,848,601 (GRCm39)	P108Q	probably damaging	Het
Fat2	T	A	11: 55,161,085 (GRCm39)	D3215V	probably damaging	Het
Galnt17	A	T	5: 131,335,371 (GRCm39)	I23N	probably benign	Het
Gpr20	C	T	15: 73,568,275 (GRCm39)	R38Q	probably benign	Het
Grin2b	T	C	6: 135,716,088 (GRCm39)	D743G	probably damaging	Het
H2-T5	T	C	17: 36,476,299 (GRCm39)	I350V	probably benign	Het
Hmbs	A	G	9: 44,252,510 (GRCm39)		probably null	Het
Hunk	T	C	16: 90,272,829 (GRCm39)	Y302H	probably damaging	Het
Mybph	A	T	1: 134,125,188 (GRCm39)	I239F	probably damaging	Het
Ncoa3	G	A	2: 165,899,120 (GRCm39)	A821T	probably benign	Het
Nf1	A	G	11: 79,335,474 (GRCm39)	I979V	possibly damaging	Het
Or5w14	T	C	2: 87,541,353 (GRCm39)	E299G	probably benign	Het
Or7h8	A	T	9: 20,124,377 (GRCm39)	H244L	probably damaging	Het
Pdilt	G	A	7: 119,118,890 (GRCm39)	T53M	probably benign	Het
Pdlim1	T	C	19: 40,211,505 (GRCm39)	T263A	probably benign	Het
Pik3cg	A	T	12: 32,244,820 (GRCm39)	M878K	possibly damaging	Het
Plod1	T	C	4: 148,010,614 (GRCm39)	K279R	probably benign	Het
Plxna4	T	C	6: 32,142,052 (GRCm39)	T1602A	possibly damaging	Het
Rb1cc1	T	A	1: 6,335,847 (GRCm39)		probably null	Het
Rnls	G	A	19: 33,145,783 (GRCm39)	T112I	probably benign	Het
Ropn1	G	A	16: 34,497,647 (GRCm39)	V180I	probably benign	Het
Rptor	T	C	11: 119,737,741 (GRCm39)	Y605H	possibly damaging	Het
Sidt2	T	C	9: 45,858,299 (GRCm39)	Y80C	probably benign	Het
Slit1	A	T	19: 41,590,119 (GRCm39)	V1389E	possibly damaging	Het
Sult1c2	T	A	17: 54,269,458 (GRCm39)	M257L	probably benign	Het
Tent2	C	T	13: 93,312,041 (GRCm39)	V220I	probably benign	Het
Tm2d3	T	C	7: 65,348,917 (GRCm39)		probably null	Het
Uqcr10	T	C	11: 4,654,153 (GRCm39)		probably null	Het

Other mutations in Spz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Spz1	APN	13	92,712,029 (GRCm39)	missense	probably damaging	0.98
IGL01473:Spz1	APN	13	92,711,764 (GRCm39)	nonsense	probably null
IGL01903:Spz1	APN	13	92,711,407 (GRCm39)	missense	probably damaging	0.99
IGL02343:Spz1	APN	13	92,712,054 (GRCm39)	missense	probably benign	0.00
IGL02969:Spz1	APN	13	92,711,851 (GRCm39)	missense	possibly damaging	0.82
R1255:Spz1	UTSW	13	92,712,138 (GRCm39)	missense	probably benign
R1756:Spz1	UTSW	13	92,711,633 (GRCm39)	missense	probably damaging	0.96
R1992:Spz1	UTSW	13	92,712,166 (GRCm39)	missense	possibly damaging	0.95
R3710:Spz1	UTSW	13	92,711,631 (GRCm39)	nonsense	probably null
R4431:Spz1	UTSW	13	92,711,837 (GRCm39)	missense	probably damaging	1.00
R5108:Spz1	UTSW	13	92,711,554 (GRCm39)	nonsense	probably null
R5922:Spz1	UTSW	13	92,712,106 (GRCm39)	missense	possibly damaging	0.81
R6724:Spz1	UTSW	13	92,711,992 (GRCm39)	missense	possibly damaging	0.59
R7166:Spz1	UTSW	13	92,712,435 (GRCm39)	missense	probably benign	0.00
R8145:Spz1	UTSW	13	92,711,609 (GRCm39)	missense	probably benign	0.01
R8945:Spz1	UTSW	13	92,711,499 (GRCm39)	missense	possibly damaging	0.89

Posted On

2015-04-16