Mutagenetix > Incidental Mutation

Incidental Mutation 'R2253:Gzf1'

241794

Institutional Source

Beutler Lab

Gene Symbol

Gzf1

Ensembl Gene

ENSMUSG00000027439

Gene Name

GDNF-inducible zinc finger protein 1

Synonyms

Zfp336, 8430437G08Rik

MMRRC Submission

040253-MU

Accession Numbers

Ncbi RefSeq: NM_028986.3; MGI:1921783

Essential gene?

Possibly essential (E-score: 0.641) question?

Stock #

R2253 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148681023-148692949 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148683936 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 109 (M109T)

Ref Sequence

ENSEMBL: ENSMUSP00000028928 (fasta)

Gene Model

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

AlphaFold

Q4VBD9

Predicted Effect

probably damaging
Transcript: ENSMUST00000028928
AA Change: M109T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028928
Gene: ENSMUSG00000027439
AA Change: M109T

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 damaging
Transcript: ENSMUST00000131292
AA Change: M109T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121799
Gene: ENSMUSG00000027439
AA Change: M109T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151362

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	A	14: 59,142,612	S79F	probably damaging	Het
Acss3	G	A	10: 107,004,748	A384V	probably damaging	Het
Aff2	G	A	X: 69,834,803	E732K	possibly damaging	Het
Atp12a	A	G	14: 56,376,258	T496A	probably benign	Het
B3gnt3	A	T	8: 71,692,818	M302K	probably damaging	Het
Bptf	G	T	11: 107,111,322	D321E	probably damaging	Het
C1ql3	C	T	2: 13,010,319	V177I	possibly damaging	Het
C2cd5	A	T	6: 143,036,316	Y607*	probably null	Het
Casp3	G	T	8: 46,637,955	W214L	probably damaging	Het
Cd248	A	G	19: 5,068,126	M1V	probably null	Het
Cdh18	A	G	15: 23,410,805	T405A	probably benign	Het
Cldn24	G	T	8: 47,822,328	R62S	probably benign	Het
Cnot1	A	G	8: 95,763,186	V463A	probably benign	Het
Cul2	A	T	18: 3,399,876	L3F	probably damaging	Het
Ep400	A	T	5: 110,719,091	N1062K	unknown	Het
Gch1	T	C	14: 47,189,341		probably benign	Het
Gm4985	G	A	X: 23,958,711	A75V	probably benign	Het
Itch	T	A	2: 155,212,339	M701K	probably benign	Het
Kank4	A	T	4: 98,779,226	I328N	probably damaging	Het
Krt9	A	T	11: 100,190,859	N281K	possibly damaging	Het
Lgals12	T	A	19: 7,606,765		probably benign	Het
Lrrc37a	T	C	11: 103,501,467	Q1044R	probably benign	Het
Mbtps2	A	T	X: 157,559,033	F270L	probably benign	Het
Nr3c1	G	T	18: 39,486,751	T161K	probably benign	Het
Olfr1279	A	G	2: 111,306,310	Y35C	probably damaging	Het
Olfr1471	T	C	19: 13,445,185	Y58H	probably damaging	Het
Olfr317	T	C	11: 58,732,995	T57A	probably benign	Het
Olfr988	A	G	2: 85,353,858	S23P	possibly damaging	Het
Pla2g4d	T	C	2: 120,271,141	K453E	probably damaging	Het
Plcb2	T	C	2: 118,723,765	N69S	probably benign	Het
Prl3d1	T	C	13: 27,094,998	Y59H	possibly damaging	Het
Rnf133	T	C	6: 23,649,175	M252V	probably benign	Het
Rnf181	G	T	6: 72,361,484	H14N	possibly damaging	Het
Sash1	A	T	10: 8,729,977	M883K	probably benign	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Slc13a4	A	G	6: 35,280,483	V240A	probably benign	Het
Slc2a5	T	C	4: 150,139,990	Y315H	possibly damaging	Het
Slc7a2	T	C	8: 40,905,621	Y334H	probably benign	Het
Spib	A	G	7: 44,529,968	S23P	probably benign	Het
Tbc1d1	A	G	5: 64,284,800	N721S	probably benign	Het
Tcf25	A	G	8: 123,374,033	E54G	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Uba7	A	G	9: 107,976,364	H131R	probably benign	Het
Vmn2r6	C	T	3: 64,559,718	C120Y	probably damaging	Het
Zdhhc18	A	T	4: 133,633,077		probably null	Het
Zfp970	T	A	2: 177,474,821		probably null	Het

Other mutations in Gzf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Gzf1	APN	2	148690996	missense	probably damaging	0.99
IGL01647:Gzf1	APN	2	148683650	missense	probably damaging	1.00
IGL01789:Gzf1	APN	2	148684061	missense	probably benign	0.41
IGL01791:Gzf1	APN	2	148684061	missense	probably benign	0.41
IGL01952:Gzf1	APN	2	148684061	missense	probably benign	0.41
IGL01954:Gzf1	APN	2	148684061	missense	probably benign	0.41
IGL01956:Gzf1	APN	2	148684061	missense	probably benign	0.41
IGL03391:Gzf1	APN	2	148683683	missense	probably damaging	1.00
I0000:Gzf1	UTSW	2	148686620	unclassified	probably benign
P0019:Gzf1	UTSW	2	148683980	missense	probably damaging	1.00
R0420:Gzf1	UTSW	2	148683833	missense	probably benign	0.30
R0725:Gzf1	UTSW	2	148684649	nonsense	probably null
R1131:Gzf1	UTSW	2	148690867	missense	probably benign	0.02
R2000:Gzf1	UTSW	2	148684611	missense	probably benign	0.16
R2211:Gzf1	UTSW	2	148684950	missense	probably damaging	1.00
R2251:Gzf1	UTSW	2	148683936	missense	probably damaging	1.00
R2252:Gzf1	UTSW	2	148683936	missense	probably damaging	1.00
R4233:Gzf1	UTSW	2	148686533	missense	possibly damaging	0.86
R5551:Gzf1	UTSW	2	148684328	missense	probably damaging	1.00
R6050:Gzf1	UTSW	2	148684238	missense	possibly damaging	0.89
R6891:Gzf1	UTSW	2	148684769	nonsense	probably null
R7457:Gzf1	UTSW	2	148690082	missense	probably damaging	0.99
R7735:Gzf1	UTSW	2	148688163	missense	possibly damaging	0.91
R7839:Gzf1	UTSW	2	148683895	nonsense	probably null
R8168:Gzf1	UTSW	2	148684766	missense	probably damaging	1.00
R8225:Gzf1	UTSW	2	148690844	missense	probably benign	0.02
R8432:Gzf1	UTSW	2	148690195	missense	probably benign	0.22
R9081:Gzf1	UTSW	2	148683397	intron	probably benign
R9761:Gzf1	UTSW	2	148688091	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAGCATAGAGAACCAGGGTGTC -3'
(R):5'- CCTGGTACACTTGCTTTGGAG -3'

Sequencing Primer
(F):5'- ACCAGGGTGTCCATGAAGACTTC -3'
(R):5'- AGCTGGGGGTCACACTCAC -3'

Posted On

2014-10-16