Mutagenetix > Incidental Mutation

Incidental Mutation 'R7166:Spz1'

557952

Institutional Source

Beutler Lab

Gene Symbol

Spz1

Ensembl Gene

ENSMUSG00000046957

Gene Name

spermatogenic leucine zipper 1

Synonyms

1700027M20Rik

MMRRC Submission

045227-MU

Accession Numbers

Essential gene?

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

Stock #

R7166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92711144-92712680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92712435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 14 (C14R)

Ref Sequence

ENSEMBL: ENSMUSP00000054083 (fasta)

Gene Model

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

AlphaFold

Q99MY0

Predicted Effect

probably benign
Transcript: ENSMUST00000050658
AA Change: C14R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000054083
Gene: ENSMUSG00000046957
AA Change: C14R

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	T	C	5: 88,615,387 (GRCm39)	L272P	possibly damaging	Het
Ash2l	C	A	8: 26,317,348 (GRCm39)	G335V	probably damaging	Het
Atp13a1	T	A	8: 70,251,966 (GRCm39)		probably null	Het
Atp13a2	G	A	4: 140,734,295 (GRCm39)	R1139Q	possibly damaging	Het
Atxn2	T	A	5: 121,934,460 (GRCm39)	N886K	possibly damaging	Het
Celsr3	G	T	9: 108,720,150 (GRCm39)	C2512F	probably damaging	Het
Cfap221	A	G	1: 119,875,843 (GRCm39)	V449A	probably benign	Het
Cfhr2	A	T	1: 139,758,839 (GRCm39)	C70*	probably null	Het
Chfr	C	A	5: 110,306,671 (GRCm39)	P472Q	probably benign	Het
Crybg2	G	A	4: 133,788,193 (GRCm39)	R22Q	probably damaging	Het
Eef2k	T	C	7: 120,483,995 (GRCm39)	F244L	probably damaging	Het
Efcab11	A	T	12: 99,849,614 (GRCm39)	M23K		Het
Eif4a3l2	A	G	6: 116,528,329 (GRCm39)	I69V	probably benign	Het
Ercc8	T	A	13: 108,305,967 (GRCm39)	M114K	possibly damaging	Het
Fam217a	T	C	13: 35,094,298 (GRCm39)	Y487C	probably benign	Het
Farsb	T	C	1: 78,447,821 (GRCm39)	N205S	probably benign	Het
Glra1	A	G	11: 55,405,904 (GRCm39)	F370S	probably benign	Het
Gm12258	T	A	11: 58,749,299 (GRCm39)	M158K		Het
Gm14305	T	A	2: 176,412,736 (GRCm39)	H209Q	probably damaging	Het
Gm4924	A	T	10: 82,214,035 (GRCm39)	Q611L	unknown	Het
H4c11	A	G	13: 21,919,321 (GRCm39)	H19R	unknown	Het
Haus6	T	C	4: 86,501,924 (GRCm39)	E649G	possibly damaging	Het
Hlcs	C	T	16: 94,063,585 (GRCm39)	D345N	possibly damaging	Het
Htt	C	A	5: 35,010,238 (GRCm39)	Q1564K	probably benign	Het
Itpr1	G	A	6: 108,355,151 (GRCm39)	V481I	probably benign	Het
Jak3	T	C	8: 72,134,960 (GRCm39)	I531T	probably damaging	Het
Kng1	T	A	16: 22,898,428 (GRCm39)	H609Q	probably benign	Het
Mdn1	T	A	4: 32,746,446 (GRCm39)	S4131T	probably damaging	Het
Npnt	A	G	3: 132,653,889 (GRCm39)	S31P	probably damaging	Het
Or1r1	A	T	11: 73,875,121 (GRCm39)	F104L	possibly damaging	Het
Or4c100	A	T	2: 88,355,990 (GRCm39)	Q21L	possibly damaging	Het
Or8h8	T	A	2: 86,753,092 (GRCm39)	K261N	probably damaging	Het
Paxx	A	T	2: 25,350,238 (GRCm39)	L123Q	probably damaging	Het
Prdm13	C	T	4: 21,683,528 (GRCm39)	R144Q	unknown	Het
Rab2b	C	A	14: 52,516,802 (GRCm39)		probably benign	Het
Rnf207	A	G	4: 152,396,237 (GRCm39)	I509T	probably damaging	Het
Ropn1l	T	C	15: 31,453,655 (GRCm39)	Q12R		Het
Ryr3	T	G	2: 112,705,373 (GRCm39)	Y847S	probably damaging	Het
Slc1a6	A	T	10: 78,648,646 (GRCm39)	T456S	possibly damaging	Het
Slc26a2	A	T	18: 61,331,901 (GRCm39)	M510K	possibly damaging	Het
Slc5a9	T	C	4: 111,741,036 (GRCm39)	T537A	probably benign	Het
Slc9b2	T	C	3: 135,031,939 (GRCm39)	Y132H	unknown	Het
Sltm	T	C	9: 70,492,132 (GRCm39)	L725S	probably damaging	Het
Srrm4	T	A	5: 116,609,301 (GRCm39)	Q172L	unknown	Het
Synj2bp	T	C	12: 81,551,289 (GRCm39)	D92G	probably benign	Het
Tmem169	A	C	1: 72,340,229 (GRCm39)	T220P	probably benign	Het
Ttn	T	A	2: 76,718,372 (GRCm39)	I7270F	unknown	Het
Txndc16	T	G	14: 45,420,611 (GRCm39)	N137H	probably benign	Het
Ubr5	A	G	15: 37,976,389 (GRCm39)	Y2499H		Het
Ugt2b38	T	C	5: 87,558,305 (GRCm39)	D452G	probably damaging	Het
Zfp12	T	A	5: 143,231,257 (GRCm39)	I560N	possibly damaging	Het
Zfp60	A	G	7: 27,448,937 (GRCm39)	K535R	possibly damaging	Het
Zfp960	T	A	17: 17,308,761 (GRCm39)	C492S	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
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
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'- AGACTTCTCTTCAACGCCTG -3'
(R):5'- GGGCTGTCTGAGATGTAACC -3'

Sequencing Primer
(F):5'- CAACGCCTGCTATGTTTTTGAGAAC -3'
(R):5'- GGCTGTCTGAGATGTAACCTTCTAC -3'

Posted On

2019-06-26