Mutagenetix > Incidental Mutation

Incidental Mutation 'R3710:Spz1'

259559

Institutional Source

Beutler Lab

Gene Symbol

Spz1

Ensembl Gene

ENSMUSG00000046957

Gene Name

spermatogenic leucine zipper 1

Synonyms

1700027M20Rik

MMRRC Submission

040703-MU

Accession Numbers

Essential gene?

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

Stock #

R3710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92711144-92712680 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 92711631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 282 (Q282*)

Ref Sequence

ENSEMBL: ENSMUSP00000054083 (fasta)

Gene Model

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

AlphaFold

Q99MY0

Predicted Effect

probably null
Transcript: ENSMUST00000050658
AA Change: Q282*

SMART Domains

Protein: ENSMUSP00000054083
Gene: ENSMUSG00000046957
AA Change: Q282*

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

Meta Mutation Damage Score

0.9716

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (55/56)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,597,384 (GRCm39)		probably benign	Het
Agbl2	G	A	2: 90,636,152 (GRCm39)	D563N	probably benign	Het
Aida	C	A	1: 183,085,610 (GRCm39)		probably null	Het
Ank1	A	G	8: 23,577,095 (GRCm39)	D200G	probably damaging	Het
Ankrd28	A	G	14: 31,470,808 (GRCm39)		probably benign	Het
Ap3b2	C	T	7: 81,123,598 (GRCm39)		probably benign	Het
Atrnl1	C	A	19: 57,645,546 (GRCm39)	H469N	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bud23	A	C	5: 135,085,204 (GRCm39)	S41A	possibly damaging	Het
Car12	G	T	9: 66,658,260 (GRCm39)	A21S	probably damaging	Het
Cav3	T	A	6: 112,436,774 (GRCm39)	M1K	probably null	Het
Cdc42bpa	A	G	1: 179,892,628 (GRCm39)	D264G	probably damaging	Het
Cic	A	G	7: 24,986,406 (GRCm39)	D1276G	probably damaging	Het
Col2a1	A	G	15: 97,888,788 (GRCm39)		probably benign	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Csn3	C	A	5: 88,077,882 (GRCm39)	N129K	possibly damaging	Het
Diaph1	C	A	18: 37,978,537 (GRCm39)	G1209W	probably damaging	Het
Dsg2	A	G	18: 20,735,174 (GRCm39)	T1051A	probably damaging	Het
Gm1965	A	T	6: 89,122,407 (GRCm39)		noncoding transcript	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Gsto1	T	C	19: 47,847,971 (GRCm39)		probably null	Het
Il15ra	G	T	2: 11,735,458 (GRCm39)		probably null	Het
Ipo8	A	T	6: 148,707,842 (GRCm39)		probably null	Het
Lsm14a	T	A	7: 34,053,204 (GRCm39)	I283F	probably damaging	Het
Mael	T	C	1: 166,066,135 (GRCm39)	D34G	probably damaging	Het
Marchf6	A	T	15: 31,509,972 (GRCm39)		probably benign	Het
Mtmr10	C	A	7: 63,976,433 (GRCm39)	A410D	possibly damaging	Het
Myh9	T	C	15: 77,657,547 (GRCm39)	E1066G	possibly damaging	Het
Nim1k	A	G	13: 120,173,635 (GRCm39)	S420P	probably benign	Het
Nlrp4c	T	A	7: 6,068,627 (GRCm39)	V176E	probably damaging	Het
Ogfod1	A	T	8: 94,784,380 (GRCm39)	K313*	probably null	Het
Or5an1	T	G	19: 12,260,450 (GRCm39)	F13V	probably damaging	Het
Osbpl10	C	A	9: 115,036,655 (GRCm39)	P253Q	probably benign	Het
Otof	A	T	5: 30,542,610 (GRCm39)	M661K	probably benign	Het
Rbms2	C	T	10: 127,979,312 (GRCm39)	R139Q	probably damaging	Het
Rimbp2	G	A	5: 128,866,795 (GRCm39)	T508I	probably benign	Het
Ros1	A	T	10: 52,037,991 (GRCm39)	C393*	probably null	Het
Rps17	T	A	7: 80,994,672 (GRCm39)	T30S	probably benign	Het
Rps3	T	C	7: 99,128,626 (GRCm39)	K197R	probably benign	Het
Samd11	G	A	4: 156,334,952 (GRCm39)	L109F	probably damaging	Het
Smarca2	T	G	19: 26,646,290 (GRCm39)		probably benign	Het
Sprr2g	C	A	3: 92,282,036 (GRCm39)	P30Q	unknown	Het
Syne3	A	G	12: 104,909,697 (GRCm39)	L713P	possibly damaging	Het
Tgm1	C	A	14: 55,950,052 (GRCm39)		probably benign	Het
Tomm22	T	C	15: 79,555,419 (GRCm39)	F55L	probably damaging	Het
Tph2	T	A	10: 115,009,963 (GRCm39)	Y199F	probably benign	Het
Vmn2r108	A	T	17: 20,682,932 (GRCm39)	F757L	probably benign	Het
Vmn2r69	T	A	7: 85,055,601 (GRCm39)	T846S	probably benign	Het
Was	G	T	X: 7,952,927 (GRCm39)	S271R	probably benign	Het
Zc3hav1	A	C	6: 38,309,097 (GRCm39)	M575R	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTAAAGCAAACATCCGGGC -3'
(R):5'- TGAGGTCATATCAGGAATGCC -3'

Sequencing Primer
(F):5'- AAACATCCGGGCTCCTGAG -3'
(R):5'- TCATATCAGGAATGCCAGAACG -3'

Posted On

2015-01-23