Mutagenetix > Incidental Mutation

Incidental Mutation 'R7839:Gzf1'

606150

Institutional Source

Beutler Lab

Gene Symbol

Gzf1

Ensembl Gene

ENSMUSG00000027439

Gene Name

GDNF-inducible zinc finger protein 1

Synonyms

Zfp336, 8430437G08Rik

MMRRC Submission

045893-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.447) question?

Stock #

R7839 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148522943-148534869 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 148525815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 95 (Y95*)

Ref Sequence

ENSEMBL: ENSMUSP00000028928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028928] [ENSMUST00000131292]

AlphaFold

Q4VBD9

Predicted Effect

probably null
Transcript: ENSMUST00000028928
AA Change: Y95*

SMART Domains

Protein: ENSMUSP00000028928
Gene: ENSMUSG00000027439
AA Change: Y95*

Domain	Start	End	E-Value	Type
BTB	31	133	2.01e-20	SMART
low complexity region	199	213	N/A	INTRINSIC
coiled coil region	287	308	N/A	INTRINSIC
ZnF_C2H2	315	337	6.32e-3	SMART
ZnF_C2H2	346	369	1.2e-3	SMART
ZnF_C2H2	375	398	8.34e-3	SMART
ZnF_C2H2	405	427	7.78e-3	SMART
ZnF_C2H2	433	455	1.69e-3	SMART
ZnF_C2H2	461	483	1.43e-1	SMART
ZnF_C2H2	489	511	2.4e-3	SMART
ZnF_C2H2	517	539	1.47e-3	SMART
ZnF_C2H2	545	567	1.38e-3	SMART
ZnF_C2H2	573	595	1.04e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000131292
AA Change: Y95*

SMART Domains

Protein: ENSMUSP00000121799
Gene: ENSMUSG00000027439
AA Change: Y95*

Domain	Start	End	E-Value	Type
BTB	31	133	2.01e-20	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (51/51)

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 110,025,085 (GRCm39)	M986K	probably benign	Het
Adcyap1	A	G	17: 93,511,413 (GRCm39)	K129R	probably benign	Het
Anapc1	T	C	2: 128,526,528 (GRCm39)	D90G	probably damaging	Het
Ankrd17	G	A	5: 90,411,213 (GRCm39)	H1361Y	probably damaging	Het
Aqp4	T	A	18: 15,532,737 (GRCm39)	I119F	possibly damaging	Het
Bfsp1	T	A	2: 143,673,770 (GRCm39)	I313F	possibly damaging	Het
Cxcl9	A	G	5: 92,475,869 (GRCm39)	V5A	probably benign	Het
Cyfip1	G	A	7: 55,536,483 (GRCm39)	V304M	probably damaging	Het
Cyp2d22	A	G	15: 82,256,772 (GRCm39)	V334A	probably damaging	Het
Cyp2j12	A	G	4: 95,987,893 (GRCm39)	V499A	possibly damaging	Het
Cyth3	A	G	5: 143,683,509 (GRCm39)	E136G	probably benign	Het
Degs2	CTTAGTGAAT	CT	12: 108,658,460 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,606,334 (GRCm39)	S1229P	probably benign	Het
Dop1a	T	A	9: 86,424,818 (GRCm39)	C2087*	probably null	Het
Dop1b	A	T	16: 93,560,829 (GRCm39)	H889L	probably damaging	Het
Elf1	A	G	14: 79,773,855 (GRCm39)	E22G	probably benign	Het
Gbgt1	T	C	2: 28,393,182 (GRCm39)	V90A	probably damaging	Het
Glis3	T	C	19: 28,294,773 (GRCm39)	D675G	possibly damaging	Het
Glt8d1	G	T	14: 30,723,788 (GRCm39)		probably benign	Het
Insig2	T	C	1: 121,240,049 (GRCm39)	I84V	probably benign	Het
Mapkapk2	A	G	1: 131,025,256 (GRCm39)	S3P	unknown	Het
Nell2	T	C	15: 95,196,819 (GRCm39)	N499S	probably benign	Het
Nlrp9b	G	A	7: 19,758,398 (GRCm39)	R545H	possibly damaging	Het
Obox7	T	A	7: 14,399,350 (GRCm39)	I192N	probably benign	Het
Or10ad1	T	C	15: 98,106,026 (GRCm39)	I80V	probably damaging	Het
Or6c76b	A	T	10: 129,692,899 (GRCm39)	I171F	possibly damaging	Het
Plec	A	T	15: 76,060,583 (GRCm39)	V3118E	probably damaging	Het
Plk3	T	C	4: 116,986,527 (GRCm39)	T571A	probably damaging	Het
Ppa2	T	C	3: 133,082,351 (GRCm39)		probably null	Het
Rabl6	A	T	2: 25,482,829 (GRCm39)	H183Q	probably damaging	Het
Rad51ap2	T	A	12: 11,507,238 (GRCm39)	S387T	possibly damaging	Het
Rbm33	A	G	5: 28,573,397 (GRCm39)		probably null	Het
Robo4	T	C	9: 37,322,055 (GRCm39)	S724P	probably damaging	Het
Rtf2	T	C	2: 172,308,253 (GRCm39)		probably null	Het
Sft2d1rt	T	C	11: 45,942,887 (GRCm39)	T79A	possibly damaging	Het
Slc45a2	A	T	15: 11,027,835 (GRCm39)	Q468L	probably benign	Het
Slc6a15	A	G	10: 103,240,660 (GRCm39)	I428V	probably benign	Het
Sp140l2	C	T	1: 85,224,736 (GRCm39)	M266I	probably benign	Het
Taar7f	C	A	10: 23,925,967 (GRCm39)	A187E	possibly damaging	Het
Tmt1a	T	C	15: 100,202,957 (GRCm39)	V77A	possibly damaging	Het
Tob1	T	A	11: 94,104,598 (GRCm39)	Y45N	probably damaging	Het
Trappc10	A	G	10: 78,024,646 (GRCm39)	V1161A	possibly damaging	Het
Trbv13-2	T	C	6: 41,098,521 (GRCm39)	V32A	probably benign	Het
Trpm8	T	A	1: 88,254,176 (GRCm39)	L133Q	possibly damaging	Het
Ttn	T	C	2: 76,538,512 (GRCm39)	T34729A	probably benign	Het
Uba6	G	T	5: 86,270,271 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,840,596 (GRCm39)	D85G	possibly damaging	Het
Vmn1r176	T	C	7: 23,534,394 (GRCm39)	D253G	possibly damaging	Het
Vmn2r34	T	A	7: 7,687,173 (GRCm39)	I175F	possibly damaging	Het
Vmn2r61	T	A	7: 41,916,032 (GRCm39)	I215N	probably damaging	Het
Vwa5a	C	A	9: 38,634,799 (GRCm39)	S202R	probably damaging	Het
Zfp383	G	A	7: 29,614,483 (GRCm39)	C246Y	probably damaging	Het
Zfp40	T	C	17: 23,395,963 (GRCm39)	D208G	probably damaging	Het
Zfp992	C	A	4: 146,550,875 (GRCm39)	L199I	probably benign	Het

Other mutations in Gzf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Gzf1	APN	2	148,532,916 (GRCm39)	missense	probably damaging	0.99
IGL01647:Gzf1	APN	2	148,525,570 (GRCm39)	missense	probably damaging	1.00
IGL01789:Gzf1	APN	2	148,525,981 (GRCm39)	missense	probably benign	0.41
IGL01791:Gzf1	APN	2	148,525,981 (GRCm39)	missense	probably benign	0.41
IGL01952:Gzf1	APN	2	148,525,981 (GRCm39)	missense	probably benign	0.41
IGL01954:Gzf1	APN	2	148,525,981 (GRCm39)	missense	probably benign	0.41
IGL01956:Gzf1	APN	2	148,525,981 (GRCm39)	missense	probably benign	0.41
IGL03391:Gzf1	APN	2	148,525,603 (GRCm39)	missense	probably damaging	1.00
I0000:Gzf1	UTSW	2	148,528,540 (GRCm39)	unclassified	probably benign
P0019:Gzf1	UTSW	2	148,525,900 (GRCm39)	missense	probably damaging	1.00
R0420:Gzf1	UTSW	2	148,525,753 (GRCm39)	missense	probably benign	0.30
R0725:Gzf1	UTSW	2	148,526,569 (GRCm39)	nonsense	probably null
R1131:Gzf1	UTSW	2	148,532,787 (GRCm39)	missense	probably benign	0.02
R2000:Gzf1	UTSW	2	148,526,531 (GRCm39)	missense	probably benign	0.16
R2211:Gzf1	UTSW	2	148,526,870 (GRCm39)	missense	probably damaging	1.00
R2251:Gzf1	UTSW	2	148,525,856 (GRCm39)	missense	probably damaging	1.00
R2252:Gzf1	UTSW	2	148,525,856 (GRCm39)	missense	probably damaging	1.00
R2253:Gzf1	UTSW	2	148,525,856 (GRCm39)	missense	probably damaging	1.00
R4233:Gzf1	UTSW	2	148,528,453 (GRCm39)	missense	possibly damaging	0.86
R5551:Gzf1	UTSW	2	148,526,248 (GRCm39)	missense	probably damaging	1.00
R6050:Gzf1	UTSW	2	148,526,158 (GRCm39)	missense	possibly damaging	0.89
R6891:Gzf1	UTSW	2	148,526,689 (GRCm39)	nonsense	probably null
R7457:Gzf1	UTSW	2	148,532,002 (GRCm39)	missense	probably damaging	0.99
R7735:Gzf1	UTSW	2	148,530,083 (GRCm39)	missense	possibly damaging	0.91
R8168:Gzf1	UTSW	2	148,526,686 (GRCm39)	missense	probably damaging	1.00
R8225:Gzf1	UTSW	2	148,532,764 (GRCm39)	missense	probably benign	0.02
R8432:Gzf1	UTSW	2	148,532,115 (GRCm39)	missense	probably benign	0.22
R9081:Gzf1	UTSW	2	148,525,317 (GRCm39)	intron	probably benign
R9761:Gzf1	UTSW	2	148,530,011 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCAGGGTGTCCATGAAGACTTC -3'
(R):5'- CATTGGAGTGAGCATCCTCC -3'

Sequencing Primer
(F):5'- TTCATGGCCCATAAAGCAGTG -3'
(R):5'- CCCTGGTACACTTGCTTTGGAG -3'

Posted On

2019-12-20