Mutagenetix > Incidental Mutation

Incidental Mutation 'R4174:Zglp1'

318236

Institutional Source

Beutler Lab

Gene Symbol

Zglp1

Ensembl Gene

ENSMUSG00000079681

Gene Name

zinc finger, GATA-like protein 1

Synonyms

Glp1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.471) question?

Stock #

R4174 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20973689-20978389 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20977366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 150 (F150L)

Ref Sequence

ENSEMBL: ENSMUSP00000111157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010348] [ENSMUST00000115494] [ENSMUST00000213826] [ENSMUST00000217359]

AlphaFold

Q1WG82

Predicted Effect

probably benign
Transcript: ENSMUST00000010348

SMART Domains

Protein: ENSMUSP00000010348
Gene: ENSMUSG00000079677

Domain	Start	End	E-Value	Type
Pfam:Fer2	64	147	5.3e-12	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115494
AA Change: F150L

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111157
Gene: ENSMUSG00000079681
AA Change: F150L

Domain	Start	End	E-Value	Type
Pfam:GATA	197	231	7.8e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216967

Predicted Effect

probably benign
Transcript: ENSMUST00000217282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217150

Predicted Effect

probably benign
Transcript: ENSMUST00000217359

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mutations result in female and male infertility due to failure of germ cell development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	C	1: 38,247,008 (GRCm39)	H859R	probably damaging	Het
Agap2	T	C	10: 126,926,383 (GRCm39)	V876A	probably damaging	Het
Akip1	C	T	7: 109,306,716 (GRCm39)	Q138*	probably null	Het
Cep70	T	C	9: 99,128,366 (GRCm39)		probably benign	Het
Ddx23	G	A	15: 98,556,132 (GRCm39)	S62F	unknown	Het
Gabrp	A	G	11: 33,518,092 (GRCm39)	I72T	probably damaging	Het
Gpsm2	C	T	3: 108,609,825 (GRCm39)	A102T	probably damaging	Het
Metap2	A	G	10: 93,715,427 (GRCm39)	C112R	possibly damaging	Het
Or4c58	T	G	2: 89,675,122 (GRCm39)	D65A	probably damaging	Het
Or8b42	T	A	9: 38,342,316 (GRCm39)	I246K	probably damaging	Het
Pde12	A	T	14: 26,390,144 (GRCm39)	D188E	probably benign	Het
Pirb	A	T	7: 3,719,031 (GRCm39)		probably null	Het
Rreb1	T	A	13: 38,114,126 (GRCm39)	L495Q	possibly damaging	Het
Slc12a5	T	C	2: 164,821,410 (GRCm39)	I275T	probably damaging	Het
Tas2r122	A	G	6: 132,688,839 (GRCm39)	I18T	probably damaging	Het
Tdrkh	A	G	3: 94,335,540 (GRCm39)	T378A	possibly damaging	Het
Ubr1	C	T	2: 120,777,103 (GRCm39)		probably null	Het

Other mutations in Zglp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01718:Zglp1	APN	9	20,974,675 (GRCm39)	missense	probably benign	0.31
IGL02039:Zglp1	APN	9	20,978,335 (GRCm39)	missense	possibly damaging	0.95
IGL02682:Zglp1	APN	9	20,977,534 (GRCm39)	missense	probably benign	0.00
IGL03040:Zglp1	APN	9	20,974,622 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Zglp1	UTSW	9	20,977,485 (GRCm39)	missense	probably benign	0.01
R0366:Zglp1	UTSW	9	20,974,675 (GRCm39)	missense	probably benign	0.31
R4888:Zglp1	UTSW	9	20,973,957 (GRCm39)	missense	probably benign	0.00
R5121:Zglp1	UTSW	9	20,973,957 (GRCm39)	missense	probably benign	0.00
R7103:Zglp1	UTSW	9	20,977,368 (GRCm39)	missense	probably benign	0.30
R7481:Zglp1	UTSW	9	20,973,903 (GRCm39)	missense	probably benign
R7581:Zglp1	UTSW	9	20,974,004 (GRCm39)	missense	probably damaging	1.00
R9109:Zglp1	UTSW	9	20,977,482 (GRCm39)	missense	probably benign	0.08
R9298:Zglp1	UTSW	9	20,977,482 (GRCm39)	missense	probably benign	0.08
Z1088:Zglp1	UTSW	9	20,978,296 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- ATTACACCAGGCTCCCAGTC -3'
(R):5'- GTCATAGGAATGTCAGACCACCTG -3'

Sequencing Primer
(F):5'- TTAAGTTGCACAAGCTGGCC -3'
(R):5'- CACCTGAGTATGGCCAGGAATC -3'

Posted On

2015-06-10