Mutagenetix > Incidental Mutation

Incidental Mutation 'R6891:Gzf1'

537191

Institutional Source

Beutler Lab

Gene Symbol

Gzf1

Ensembl Gene

ENSMUSG00000027439

Gene Name

GDNF-inducible zinc finger protein 1

Synonyms

Zfp336, 8430437G08Rik

MMRRC Submission

044985-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.500) question?

Stock #

R6891 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148522943-148534869 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 148526689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 387 (K387*)

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: K387*

SMART Domains

Protein: ENSMUSP00000028928
Gene: ENSMUSG00000027439
AA Change: K387*

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 benign
Transcript: ENSMUST00000131292

SMART Domains

Protein: ENSMUSP00000121799
Gene: ENSMUSG00000027439

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

97% (72/74)

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	C	T	9: 107,806,346 (GRCm39)	A223V	probably benign	Het
Agbl5	G	T	5: 31,052,522 (GRCm39)	R61L	probably damaging	Het
Agmat	A	T	4: 141,483,192 (GRCm39)	T209S	probably benign	Het
Ankrd34a	G	A	3: 96,505,335 (GRCm39)	V180I	probably benign	Het
Anks1	C	T	17: 28,276,398 (GRCm39)	T1047M	probably damaging	Het
Arhgap21	T	A	2: 20,855,142 (GRCm39)	I1407F	probably damaging	Het
Armc1	C	A	3: 19,189,205 (GRCm39)	C183F	probably damaging	Het
Atg13	A	G	2: 91,516,136 (GRCm39)	M196T	probably benign	Het
AU040320	G	T	4: 126,740,231 (GRCm39)	S864I	possibly damaging	Het
Btn2a2	T	C	13: 23,667,014 (GRCm39)	D197G	probably benign	Het
Carmil1	A	G	13: 24,325,706 (GRCm39)	I208T	probably benign	Het
Cbs	T	A	17: 31,841,431 (GRCm39)	R263S	probably damaging	Het
Ccdc7a	C	A	8: 129,753,119 (GRCm39)	R204L	probably damaging	Het
Cdhr1	A	T	14: 36,819,334 (GRCm39)		probably null	Het
Cers4	G	A	8: 4,573,731 (GRCm39)	R378Q	probably damaging	Het
Chst1	T	G	2: 92,444,088 (GRCm39)	L187V	probably benign	Het
Clec4e	A	T	6: 123,260,565 (GRCm39)	N164K	probably damaging	Het
Cln3	T	A	7: 126,181,975 (GRCm39)	D29V	possibly damaging	Het
Crybg2	A	G	4: 133,809,148 (GRCm39)	S187G	probably benign	Het
Ddx1	A	T	12: 13,286,096 (GRCm39)	N285K	probably benign	Het
Dmxl2	A	G	9: 54,387,664 (GRCm39)	I58T	probably damaging	Het
Dock4	A	G	12: 40,829,135 (GRCm39)	Y1007C	probably damaging	Het
Eral1	C	T	11: 77,966,559 (GRCm39)	V234I	possibly damaging	Het
Fads2b	C	A	2: 85,319,149 (GRCm39)	M384I	possibly damaging	Het
Fads2b	T	G	2: 85,319,157 (GRCm39)	T382P	probably damaging	Het
Fam161b	A	G	12: 84,401,554 (GRCm39)	F400S	probably damaging	Het
Fmnl3	T	C	15: 99,223,754 (GRCm39)	D314G	probably damaging	Het
Foxred2	A	T	15: 77,839,909 (GRCm39)	L127Q	probably damaging	Het
Gjd2	G	A	2: 113,843,575 (GRCm39)	A14V	possibly damaging	Het
Gon4l	A	G	3: 88,766,173 (GRCm39)		probably null	Het
Gpr151	T	A	18: 42,711,985 (GRCm39)	D231V	probably benign	Het
Hfm1	T	A	5: 107,065,240 (GRCm39)	K146N	possibly damaging	Het
Hgf	G	A	5: 16,809,920 (GRCm39)		probably null	Het
Isoc2b	A	G	7: 4,854,487 (GRCm39)	S15P	probably damaging	Het
Itga5	A	G	15: 103,265,970 (GRCm39)	S126P	probably damaging	Het
Kat6b	A	G	14: 21,719,104 (GRCm39)	D1152G	probably benign	Het
Kcna4	C	T	2: 107,126,652 (GRCm39)	S462F	probably damaging	Het
Kif24	A	T	4: 41,394,168 (GRCm39)	C902S	probably benign	Het
Lama2	A	T	10: 27,204,068 (GRCm39)	C523*	probably null	Het
Lama2	G	C	10: 27,204,078 (GRCm39)	S520*	probably null	Het
Ltf	T	C	9: 110,854,181 (GRCm39)	V332A	probably benign	Het
Mapkap1	T	C	2: 34,453,153 (GRCm39)	F349L	probably damaging	Het
Mdm1	A	G	10: 117,983,937 (GRCm39)	N188D	probably benign	Het
Mfn1	T	C	3: 32,631,252 (GRCm39)	S730P	possibly damaging	Het
Mrgprd	T	A	7: 144,876,087 (GRCm39)	D319E	probably benign	Het
Mrps9	C	A	1: 42,944,573 (GRCm39)	L364I	probably damaging	Het
Myo1h	C	T	5: 114,487,673 (GRCm39)	R626C	probably damaging	Het
Nme3	T	C	17: 25,115,829 (GRCm39)	S61P	probably benign	Het
Or2g1	A	G	17: 38,106,395 (GRCm39)	Q20R	probably benign	Het
Or52e18	A	G	7: 104,609,192 (GRCm39)	I249T	probably damaging	Het
Pald1	A	G	10: 61,184,311 (GRCm39)		probably null	Het
Papola	A	T	12: 105,775,950 (GRCm39)		probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Plch1	T	C	3: 63,605,504 (GRCm39)	T1458A	probably benign	Het
Polr3e	A	G	7: 120,543,873 (GRCm39)	Q659R	probably damaging	Het
Pramel38	C	A	5: 94,365,978 (GRCm39)	P32Q	probably damaging	Het
Shoc2	T	C	19: 53,976,548 (GRCm39)	V146A	probably benign	Het
Slc15a1	T	C	14: 121,713,442 (GRCm39)	T362A	probably benign	Het
Smpd3	A	G	8: 106,991,300 (GRCm39)	Y418H	probably damaging	Het
Sorcs1	A	T	19: 50,213,557 (GRCm39)	C723*	probably null	Het
Supt7l	T	A	5: 31,680,365 (GRCm39)	N16Y	probably damaging	Het
Syngr2	T	C	11: 117,703,499 (GRCm39)	V105A	probably damaging	Het
Thrb	T	A	14: 17,981,899 (GRCm38)	V8E	probably benign	Het
Tlx1	A	T	19: 45,139,757 (GRCm39)	I135F	probably damaging	Het
Tnfaip3	A	G	10: 18,887,417 (GRCm39)	I36T	probably damaging	Het
Troap	A	G	15: 98,980,569 (GRCm39)	Y583C	possibly damaging	Het
Usp17lb	T	C	7: 104,490,307 (GRCm39)	K207E	probably benign	Het
Vmn2r10	C	T	5: 109,149,845 (GRCm39)	V400M	probably damaging	Het
Wdr49	A	T	3: 75,240,590 (GRCm39)		probably null	Het
Wdr64	G	T	1: 175,533,634 (GRCm39)	W90L	probably damaging	Het
Yme1l1	A	G	2: 23,085,401 (GRCm39)	E662G	probably damaging	Het
Zfp334	C	T	2: 165,224,644 (GRCm39)	V68I	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
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
R7839:Gzf1	UTSW	2	148,525,815 (GRCm39)	nonsense	probably null
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'- GTAACTTCCAGTGCACAGTCTG -3'
(R):5'- GATGGCTGTGAGAACTTGGC -3'

Sequencing Primer
(F):5'- ACAGTCTGTGACAAGGCCTTC -3'
(R):5'- TGGCATCACACTTGGTACAG -3'

Posted On

2018-10-18