Mutagenetix > Incidental Mutation

Incidental Mutation 'R5551:Gzf1'

435115

Institutional Source

Beutler Lab

Gene Symbol

Gzf1

Ensembl Gene

ENSMUSG00000027439

Gene Name

GDNF-inducible zinc finger protein 1

Synonyms

Zfp336, 8430437G08Rik

MMRRC Submission

043108-MU

Accession Numbers

Ncbi RefSeq: NM_028986.3; MGI:1921783

Essential gene?

Possibly essential (E-score: 0.591) question?

Stock #

R5551 (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 148684328 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 240 (Y240H)

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: Y240H

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

SMART Domains

Protein: ENSMUSP00000028928
Gene: ENSMUSG00000027439
AA Change: Y240H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151362

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

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
4930435E12Rik	A	G	16: 38,827,974	Y258H	probably benign	Het
AB041806	G	T	4: 138,396,001	P3T	probably damaging	Het
Abl1	C	T	2: 31,801,670	A1048V	probably benign	Het
Acap2	A	G	16: 31,104,908	V659A	probably damaging	Het
Acox1	A	G	11: 116,189,491	S29P	possibly damaging	Het
Adamts1	A	G	16: 85,797,746	I405T	probably benign	Het
Afm	A	T	5: 90,531,652	E335V	probably null	Het
Akap6	C	T	12: 52,795,964	P32S	probably damaging	Het
Alk	T	C	17: 71,875,033	M1332V	possibly damaging	Het
Ankrd39	C	T	1: 36,541,981	G96R	probably damaging	Het
Atp2c1	C	A	9: 105,459,737	A16S	probably damaging	Het
Ccdc141	T	C	2: 77,014,409	E1438G	probably damaging	Het
Csmd2	T	C	4: 128,510,948	Y2376H	possibly damaging	Het
Csmd3	T	C	15: 48,314,096	T349A	probably benign	Het
Ctsr	A	T	13: 61,159,543	M313K	probably damaging	Het
D430042O09Rik	T	C	7: 125,820,077	F472S	probably damaging	Het
Dot1l	CCAGCCCCACCCTCAGCC	CCAGCC	10: 80,783,628		probably benign	Het
Dync2h1	A	G	9: 7,031,718	S3516P	possibly damaging	Het
Ehd4	A	G	2: 120,127,619	S162P	possibly damaging	Het
Ets2	T	C	16: 95,712,121	W114R	probably damaging	Het
Fignl1	A	T	11: 11,801,603	V484E	probably damaging	Het
Golph3	C	A	15: 12,321,836	S35R	probably benign	Het
Hook3	A	G	8: 26,068,611	F75S	possibly damaging	Het
Ifi209	T	A	1: 173,641,197	S198T	probably benign	Het
Iqch	A	T	9: 63,496,253		probably null	Het
Lrrk2	C	T	15: 91,812,350	T2447I	probably benign	Het
Mesp2	T	C	7: 79,811,619	S231P	probably benign	Het
Muc5b	T	C	7: 141,868,503	C4459R	possibly damaging	Het
Myh10	A	G	11: 68,768,287	E497G	possibly damaging	Het
Nalcn	A	T	14: 123,278,286	V1701E	possibly damaging	Het
Nat8f1	T	C	6: 85,910,909	D23G	probably damaging	Het
Nfia	G	A	4: 98,014,260	E250K	probably damaging	Het
Nup155	A	G	15: 8,148,333	M1067V	probably benign	Het
Olfr1280	T	C	2: 111,315,571	F31L	possibly damaging	Het
Pde4d	T	A	13: 109,948,396		probably null	Het
Rtn4	G	A	11: 29,741,011	V1101I	probably damaging	Het
Sema4c	A	G	1: 36,552,317	Y348H	probably damaging	Het
Sema6a	A	G	18: 47,248,528	V958A	possibly damaging	Het
Sez6l2	A	G	7: 126,966,830	Y677C	probably damaging	Het
Smad5	T	C	13: 56,735,841	C347R	probably damaging	Het
Smim19	A	G	8: 22,463,367	Y95H	probably benign	Het
Srrm2	C	A	17: 23,818,476		probably benign	Het
Ssb	A	G	2: 69,871,130	K390E	probably damaging	Het
Tars	G	A	15: 11,391,982	T248M	probably damaging	Het
Tcirg1	A	T	19: 3,898,858	F442L	probably damaging	Het
Tlk2	A	G	11: 105,221,307	E162G	probably benign	Het
Tmc6	A	G	11: 117,769,445	C656R	probably damaging	Het
Ttn	G	T	2: 76,889,062		probably benign	Het
Uqcrc2	C	T	7: 120,645,238	T201I	probably damaging	Het
Zfp282	G	T	6: 47,890,645	A252S	possibly damaging	Het
Zfp473	G	C	7: 44,734,151	P253A	probably benign	Het
Zfp541	A	G	7: 16,090,861	N1068D	probably damaging	Het
Zfp946	A	G	17: 22,455,384	Q373R	probably damaging	Het
Zmat2	G	A	18: 36,793,957	G6R	probably benign	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
R2253:Gzf1	UTSW	2	148683936	missense	probably damaging	1.00
R4233:Gzf1	UTSW	2	148686533	missense	possibly damaging	0.86
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'- ACCCAATAGAGAGACTGGGC -3'
(R):5'- AGACTGTGCACTGGAAGTTAC -3'

Sequencing Primer
(F):5'- GCAATGGGCTCTCACCAG -3'
(R):5'- GAAGTTACTCTTCTTCTTCTCCTCC -3'

Posted On

2016-10-24