Mutagenetix > Incidental Mutation

Incidental Mutation 'R6186:Zfp458'

502189

Institutional Source

Beutler Lab

Gene Symbol

Zfp458

Ensembl Gene

ENSMUSG00000055480

Gene Name

zinc finger protein 458

Synonyms

Rslcan-7

MMRRC Submission

044326-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6186 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67402982-67426530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67405701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 246 (E246G)

Ref Sequence

ENSEMBL: ENSMUSP00000047222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045969] [ENSMUST00000223990] [ENSMUST00000225772]

AlphaFold

Q6P5C7

Predicted Effect

probably damaging
Transcript: ENSMUST00000045969
AA Change: E246G

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

SMART Domains

Protein: ENSMUSP00000047222
Gene: ENSMUSG00000055480
AA Change: E246G

Domain	Start	End	E-Value	Type
KRAB	5	65	5.27e-32	SMART
ZnF_C2H2	81	103	2.09e-3	SMART
ZnF_C2H2	109	131	1.03e-2	SMART
ZnF_C2H2	137	159	4.11e-2	SMART
ZnF_C2H2	193	215	2.17e1	SMART
ZnF_C2H2	221	243	2.95e-3	SMART
ZnF_C2H2	249	271	7.9e-4	SMART
ZnF_C2H2	277	299	6.32e-3	SMART
ZnF_C2H2	305	327	3.52e-1	SMART
ZnF_C2H2	333	355	1.38e-3	SMART
ZnF_C2H2	361	383	3.63e-3	SMART
ZnF_C2H2	389	411	1.2e-3	SMART
ZnF_C2H2	417	439	3.52e-1	SMART
ZnF_C2H2	445	467	4.87e-4	SMART
ZnF_C2H2	473	495	7.26e-3	SMART
ZnF_C2H2	501	523	1.18e-2	SMART
ZnF_C2H2	529	551	1.56e-2	SMART
ZnF_C2H2	557	579	2.05e-2	SMART
ZnF_C2H2	585	607	7.78e-3	SMART
ZnF_C2H2	641	663	1.76e-1	SMART
ZnF_C2H2	669	691	5.21e-4	SMART
ZnF_C2H2	697	719	5.14e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000223990

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225772
AA Change: E243G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,298,502 (GRCm39)	S409P	probably damaging	Het
Adgrg5	T	C	8: 95,660,652 (GRCm39)	V93A	possibly damaging	Het
Akap8l	C	T	17: 32,552,018 (GRCm39)	V420I	probably benign	Het
Ankrd36	T	G	11: 5,593,812 (GRCm39)	D472E	possibly damaging	Het
Apbb1	T	C	7: 105,216,933 (GRCm39)	E250G	probably damaging	Het
Cacna2d4	G	A	6: 119,258,650 (GRCm39)	E579K	possibly damaging	Het
Capn7	G	T	14: 31,092,875 (GRCm39)	G780W	probably damaging	Het
Celsr1	T	C	15: 85,805,394 (GRCm39)	E2419G	possibly damaging	Het
Cep164	A	T	9: 45,705,407 (GRCm39)	S363R	probably damaging	Het
Cfap221	T	A	1: 119,862,340 (GRCm39)	I581F	probably damaging	Het
Cog2	C	A	8: 125,273,425 (GRCm39)	T588N	probably damaging	Het
Cyp2a5	T	C	7: 26,542,813 (GRCm39)		probably benign	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Evx1	T	C	6: 52,291,203 (GRCm39)		probably null	Het
Fam186a	T	C	15: 99,845,206 (GRCm39)	H346R	unknown	Het
Fam53b	T	A	7: 132,317,445 (GRCm39)	D399V	possibly damaging	Het
Fcho2	T	A	13: 98,951,591 (GRCm39)	N9I	probably benign	Het
Fjx1	T	C	2: 102,281,152 (GRCm39)	E261G	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fkbpl	T	C	17: 34,865,153 (GRCm39)	F307S	probably benign	Het
Fn1	A	G	1: 71,676,449 (GRCm39)	I594T	probably damaging	Het
Inpp4b	T	A	8: 82,772,863 (GRCm39)	V719E	probably damaging	Het
Ldlr	C	T	9: 21,635,055 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,377,968 (GRCm39)	V1419A	probably damaging	Het
Mapkap1	A	G	2: 34,453,126 (GRCm39)	T340A	possibly damaging	Het
Mark2	A	G	19: 7,260,567 (GRCm39)	V403A	probably benign	Het
Mast3	T	C	8: 71,238,127 (GRCm39)	T521A	probably damaging	Het
Mrtfa	T	C	15: 80,900,853 (GRCm39)	K546R	probably damaging	Het
Myo1h	C	T	5: 114,457,864 (GRCm39)	T125I	possibly damaging	Het
Ndufa8	A	G	2: 35,929,752 (GRCm39)	V118A	probably benign	Het
Nphs1	A	G	7: 30,165,059 (GRCm39)	T551A	probably damaging	Het
Or2k2	T	C	4: 58,784,948 (GRCm39)	Y258C	probably damaging	Het
Or4k15c	T	A	14: 50,321,982 (GRCm39)	D52V	probably damaging	Het
Pcm1	T	C	8: 41,746,830 (GRCm39)	L1343P	probably benign	Het
Pdcd1	T	A	1: 93,967,846 (GRCm39)	R202*	probably null	Het
Pramel52-ps	T	A	5: 94,531,835 (GRCm39)	Y240N	probably benign	Het
Prkab2	A	G	3: 97,571,307 (GRCm39)		probably null	Het
Ptdss2	T	C	7: 140,734,862 (GRCm39)		probably benign	Het
Rap1b	G	T	10: 117,656,457 (GRCm39)	F78L	probably damaging	Het
Rbl2	C	T	8: 91,833,358 (GRCm39)	T711I	probably damaging	Het
Rhobtb2	A	G	14: 70,035,693 (GRCm39)	I126T	probably damaging	Het
Rimoc1	C	A	15: 4,015,851 (GRCm39)	D238Y	possibly damaging	Het
Rnf123	A	C	9: 107,947,157 (GRCm39)	S210A	possibly damaging	Het
Shank1	T	A	7: 44,001,990 (GRCm39)	F1228L	probably benign	Het
Spata31f3	T	C	4: 42,872,000 (GRCm39)	K125R	possibly damaging	Het
Sumo1	C	A	1: 59,683,729 (GRCm39)	V38L	probably benign	Het
Sycp2	C	T	2: 178,025,353 (GRCm39)	S363N	probably damaging	Het
Tbx2	G	T	11: 85,728,672 (GRCm39)	E352*	probably null	Het
Timm44	T	C	8: 4,316,824 (GRCm39)	N270D	probably damaging	Het
Topaz1	A	T	9: 122,577,891 (GRCm39)	Q267L	probably benign	Het
Trp63	T	C	16: 25,695,483 (GRCm39)		probably benign	Het
Ushbp1	T	A	8: 71,843,647 (GRCm39)	T264S	possibly damaging	Het
Vav3	A	G	3: 109,423,383 (GRCm39)	Y334C	probably damaging	Het
Wdr36	G	C	18: 32,985,954 (GRCm39)	A553P	probably benign	Het
Zfhx2	A	T	14: 55,300,617 (GRCm39)	I2378K	probably damaging	Het
Zfp276	T	A	8: 123,982,672 (GRCm39)	Y145*	probably null	Het
Zfp526	A	G	7: 24,925,561 (GRCm39)	T607A	probably benign	Het

Other mutations in Zfp458

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Zfp458	APN	13	67,405,300 (GRCm39)	missense	probably benign	0.01
IGL01989:Zfp458	APN	13	67,407,691 (GRCm39)	missense	probably damaging	0.98
IGL02168:Zfp458	APN	13	67,406,098 (GRCm39)	missense	probably damaging	0.98
IGL02620:Zfp458	APN	13	67,406,058 (GRCm39)	missense	probably damaging	1.00
R0014:Zfp458	UTSW	13	67,406,154 (GRCm39)	missense	possibly damaging	0.71
R0014:Zfp458	UTSW	13	67,406,154 (GRCm39)	missense	possibly damaging	0.71
R0025:Zfp458	UTSW	13	67,405,962 (GRCm39)	missense	probably damaging	0.98
R0066:Zfp458	UTSW	13	67,407,673 (GRCm39)	nonsense	probably null
R0257:Zfp458	UTSW	13	67,407,706 (GRCm39)	nonsense	probably null
R1218:Zfp458	UTSW	13	67,404,273 (GRCm39)	missense	probably damaging	0.99
R1292:Zfp458	UTSW	13	67,404,754 (GRCm39)	missense	probably damaging	1.00
R1490:Zfp458	UTSW	13	67,405,573 (GRCm39)	missense	probably damaging	1.00
R1664:Zfp458	UTSW	13	67,406,144 (GRCm39)	missense	possibly damaging	0.95
R2169:Zfp458	UTSW	13	67,405,113 (GRCm39)	missense	probably damaging	1.00
R3769:Zfp458	UTSW	13	67,405,546 (GRCm39)	missense	probably damaging	1.00
R5305:Zfp458	UTSW	13	67,404,382 (GRCm39)	missense	probably benign	0.31
R5364:Zfp458	UTSW	13	67,406,012 (GRCm39)	nonsense	probably null
R5426:Zfp458	UTSW	13	67,405,256 (GRCm39)	nonsense	probably null
R5760:Zfp458	UTSW	13	67,405,853 (GRCm39)	missense	probably damaging	1.00
R6151:Zfp458	UTSW	13	67,405,662 (GRCm39)	missense	possibly damaging	0.95
R6298:Zfp458	UTSW	13	67,404,870 (GRCm39)	missense	probably damaging	1.00
R7368:Zfp458	UTSW	13	67,405,300 (GRCm39)	missense	probably benign	0.01
R7483:Zfp458	UTSW	13	67,404,978 (GRCm39)	missense	possibly damaging	0.94
R7711:Zfp458	UTSW	13	67,407,664 (GRCm39)	missense	possibly damaging	0.95
R7921:Zfp458	UTSW	13	67,404,180 (GRCm39)	makesense	probably null
R7993:Zfp458	UTSW	13	67,405,234 (GRCm39)	missense	probably damaging	1.00
R8240:Zfp458	UTSW	13	67,406,190 (GRCm39)	missense	probably damaging	1.00
R8429:Zfp458	UTSW	13	67,406,152 (GRCm39)	missense	possibly damaging	0.86
R9084:Zfp458	UTSW	13	67,407,633 (GRCm39)	missense	probably benign	0.09
R9099:Zfp458	UTSW	13	67,405,696 (GRCm39)	missense	probably damaging	1.00
R9217:Zfp458	UTSW	13	67,408,298 (GRCm39)	missense	probably damaging	0.99
R9249:Zfp458	UTSW	13	67,405,218 (GRCm39)	missense	probably damaging	1.00
R9765:Zfp458	UTSW	13	67,408,217 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACACTTGCAGAGATTCTCTTTTG -3'
(R):5'- ATGGCAAGACCTTACATTGTCC -3'

Sequencing Primer
(F):5'- aatggaaggtcttgccac -3'
(R):5'- GTCCATCATTACTTTCTCAACACAAG -3'

Posted On

2018-02-27