Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02343:Spz1'

289172

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 #

IGL02343

Quality Score

Status

Chromosome

Chromosomal Location

92711144-92712680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92712054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 141 (M141L)

Ref Sequence

ENSEMBL: ENSMUSP00000054083 (fasta)

Gene Model

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

AlphaFold

Q99MY0

Predicted Effect

probably benign
Transcript: ENSMUST00000050658
AA Change: M141L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000054083
Gene: ENSMUSG00000046957
AA Change: M141L

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
Acbd5	T	A	2: 22,977,507 (GRCm39)	N168K	possibly damaging	Het
Aig1	T	C	10: 13,744,418 (GRCm39)	M29V	probably damaging	Het
Albfm1	C	A	5: 90,727,473 (GRCm39)	H364N	probably damaging	Het
Apba2	A	G	7: 64,344,894 (GRCm39)	E28G	probably damaging	Het
Bglap3	T	C	3: 88,276,423 (GRCm39)	N45S	possibly damaging	Het
Cables2	A	G	2: 179,902,072 (GRCm39)		probably null	Het
Cd109	A	G	9: 78,596,237 (GRCm39)		probably benign	Het
Cdk1	T	C	10: 69,176,331 (GRCm39)	N259D	probably benign	Het
Ces1h	A	G	8: 94,078,654 (GRCm39)	*563R	probably null	Het
Cfap46	C	T	7: 139,262,425 (GRCm39)	A115T	probably damaging	Het
Cry2	A	T	2: 92,257,266 (GRCm39)	V101E	possibly damaging	Het
Cyp4a31	A	G	4: 115,421,026 (GRCm39)	Y38C	probably damaging	Het
Dip2a	T	C	10: 76,155,312 (GRCm39)	Y130C	probably benign	Het
Eps8l1	A	G	7: 4,475,123 (GRCm39)	T366A	probably benign	Het
Esr2	C	T	12: 76,192,119 (GRCm39)	R303H	probably benign	Het
Fbxo41	T	G	6: 85,455,153 (GRCm39)	L617F	possibly damaging	Het
Fbxw15	A	T	9: 109,381,723 (GRCm39)		probably benign	Het
Lrriq1	T	A	10: 103,070,024 (GRCm39)		probably benign	Het
Me1	A	T	9: 86,536,694 (GRCm39)		probably null	Het
Moxd1	G	A	10: 24,155,762 (GRCm39)	V289I	probably damaging	Het
Muc19	T	G	15: 91,778,428 (GRCm39)		noncoding transcript	Het
Myo15b	A	G	11: 115,764,226 (GRCm39)		probably benign	Het
Nav1	A	T	1: 135,382,490 (GRCm39)	L1264*	probably null	Het
Nhlrc4	T	C	17: 26,162,335 (GRCm39)	*137W	probably null	Het
Nrxn3	A	G	12: 88,762,123 (GRCm39)	T57A	probably damaging	Het
Or10g3	T	A	14: 52,609,934 (GRCm39)	D192V	probably damaging	Het
Orc2	A	T	1: 58,508,825 (GRCm39)		probably null	Het
Rpap2	G	A	5: 107,766,047 (GRCm39)		probably null	Het
S100a9	T	C	3: 90,602,531 (GRCm39)	H21R	probably damaging	Het
Stk40	A	G	4: 126,030,695 (GRCm39)	Y305C	probably damaging	Het
Stra6l	A	G	4: 45,869,588 (GRCm39)	Q218R	probably damaging	Het
T	C	A	17: 8,658,732 (GRCm39)		probably benign	Het
Tep1	T	C	14: 51,066,704 (GRCm39)	D2298G	probably damaging	Het
Trim40	A	T	17: 37,200,030 (GRCm39)	L16Q	probably benign	Het
Tubb4a	T	C	17: 57,388,538 (GRCm39)	I163V	probably benign	Het
Vwc2	T	A	11: 11,066,532 (GRCm39)	C207S	probably damaging	Het
Zfp407	A	G	18: 84,227,849 (GRCm39)	I1920T	possibly damaging	Het
Zfp429	T	C	13: 67,538,844 (GRCm39)	E200G	probably damaging	Het
Zfp451	C	T	1: 33,815,574 (GRCm39)	C792Y	probably damaging	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
IGL02312:Spz1	APN	13	92,712,393 (GRCm39)	missense	probably benign	0.01
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