Mutagenetix > Incidental Mutation

Incidental Mutation 'R6151:Zfp458'

489291

Institutional Source

Beutler Lab

Gene Symbol

Zfp458

Ensembl Gene

ENSMUSG00000055480

Gene Name

zinc finger protein 458

Synonyms

Rslcan-7

MMRRC Submission

044298-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R6151 (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 A at 67405662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 259 (H259L)

Ref Sequence

ENSEMBL: ENSMUSP00000047222 (fasta)

Gene Model

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

AlphaFold

Q6P5C7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045969
AA Change: H259L

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047222
Gene: ENSMUSG00000055480
AA Change: H259L

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

probably benign
Transcript: ENSMUST00000225772
AA Change: H256L

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	G	1: 120,099,216 (GRCm39)		probably null	Het
4930550C14Rik	G	T	9: 53,325,683 (GRCm39)	R73S	probably damaging	Het
Abca1	A	G	4: 53,085,261 (GRCm39)	V517A	probably benign	Het
Adck5	A	T	15: 76,478,887 (GRCm39)	K370N	possibly damaging	Het
Akap6	A	C	12: 53,072,575 (GRCm39)	D981A	probably damaging	Het
Apbb1	G	A	7: 105,223,459 (GRCm39)	R51*	probably null	Het
Arhgap23	A	G	11: 97,391,238 (GRCm39)	M1252V	probably benign	Het
Arhgef1	A	G	7: 24,617,367 (GRCm39)	T354A	probably benign	Het
Arid1a	G	T	4: 133,412,287 (GRCm39)	Q1636K	unknown	Het
Asmt	C	T	X: 169,110,202 (GRCm39)	A237V	possibly damaging	Het
Brat1	T	A	5: 140,691,716 (GRCm39)	C43S	probably benign	Het
Cd36	T	C	5: 18,000,593 (GRCm39)	Y370C	probably damaging	Het
Ceacam12	A	T	7: 17,803,030 (GRCm39)	L145F	probably benign	Het
Col24a1	C	T	3: 145,019,815 (GRCm39)	T62I	probably damaging	Het
Col6a3	G	T	1: 90,741,475 (GRCm39)	N652K	possibly damaging	Het
Dcbld1	T	C	10: 52,180,756 (GRCm39)	L140P	probably damaging	Het
Dhrs13	G	A	11: 77,927,808 (GRCm39)	C218Y	probably damaging	Het
Diaph1	T	G	18: 37,986,406 (GRCm39)	E1158A	probably damaging	Het
Emp2	A	C	16: 10,110,145 (GRCm39)	F20C	probably damaging	Het
Enpep	T	C	3: 129,126,067 (GRCm39)	I22V	possibly damaging	Het
Epha2	A	G	4: 141,045,791 (GRCm39)		probably null	Het
Eprs1	G	T	1: 185,139,951 (GRCm39)		probably null	Het
Etl4	T	A	2: 20,718,171 (GRCm39)	I304N	probably damaging	Het
Exoc3l2	C	A	7: 19,225,670 (GRCm39)	S89*	probably null	Het
F5	A	T	1: 164,009,204 (GRCm39)	I325F	probably damaging	Het
F5	G	A	1: 164,017,756 (GRCm39)	C611Y	probably damaging	Het
Fam133b	A	T	5: 3,609,133 (GRCm39)	S116C	probably null	Het
Fam13b	A	T	18: 34,627,330 (GRCm39)	D190E	probably damaging	Het
Fam169a	T	G	13: 97,230,138 (GRCm39)	Y58D	probably damaging	Het
Far1	G	A	7: 113,160,603 (GRCm39)	R383H	possibly damaging	Het
Fnbp1l	T	C	3: 122,364,579 (GRCm39)	K52R	possibly damaging	Het
Foxj3	C	A	4: 119,480,468 (GRCm39)	Q469K	unknown	Het
Frs3	A	T	17: 48,000,013 (GRCm39)		probably benign	Het
Gdpd3	A	G	7: 126,374,674 (GRCm39)	S290G	probably benign	Het
Gmip	T	A	8: 70,269,735 (GRCm39)	L610Q	probably damaging	Het
Gprc5c	T	A	11: 114,754,851 (GRCm39)	I176N	probably damaging	Het
Grm3	A	G	5: 9,561,556 (GRCm39)	F765L	probably damaging	Het
Hhat	A	T	1: 192,442,065 (GRCm39)	L2Q	probably damaging	Het
Hspbap1	T	C	16: 35,637,592 (GRCm39)	S214P	probably damaging	Het
Ighv1-62-3	C	A	12: 115,424,909 (GRCm39)	V21F	probably damaging	Het
Kcnj15	A	T	16: 95,096,527 (GRCm39)	K50*	probably null	Het
Kidins220	T	C	12: 25,106,908 (GRCm39)	S1454P	possibly damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Klhl23	T	G	2: 69,655,198 (GRCm39)	L356R	probably damaging	Het
Kndc1	A	T	7: 139,501,129 (GRCm39)	D806V	probably benign	Het
Krt26	T	C	11: 99,228,315 (GRCm39)	E139G	probably benign	Het
Lefty1	T	C	1: 180,762,681 (GRCm39)	F3L	unknown	Het
Madd	A	C	2: 90,995,802 (GRCm39)	Y853*	probably null	Het
Map1a	T	A	2: 121,120,304 (GRCm39)	D63E	probably benign	Het
Mdn1	T	A	4: 32,684,735 (GRCm39)	V815E	probably damaging	Het
Mettl3	A	G	14: 52,532,477 (GRCm39)	Y569H	probably damaging	Het
Mknk2	T	C	10: 80,504,859 (GRCm39)		probably null	Het
Mpp3	C	A	11: 101,899,392 (GRCm39)	R376S	probably benign	Het
Ncoa4-ps	T	G	12: 119,224,841 (GRCm39)		noncoding transcript	Het
Nup160	T	A	2: 90,520,449 (GRCm39)	Y293*	probably null	Het
Nup58	A	T	14: 60,482,065 (GRCm39)	F100I	possibly damaging	Het
Nxpe2	A	C	9: 48,237,491 (GRCm39)	L255V	probably benign	Het
Or10ab4	A	G	7: 107,655,106 (GRCm39)	I306V	probably benign	Het
Or1e30	T	A	11: 73,678,521 (GRCm39)	Y252*	probably null	Het
Or2l5	A	T	16: 19,334,281 (GRCm39)	L35Q	probably damaging	Het
Or4d11	T	C	19: 12,014,100 (GRCm39)	E2G	probably benign	Het
Padi3	A	T	4: 140,523,705 (GRCm39)	D248E	probably damaging	Het
Paxip1	G	T	5: 27,966,616 (GRCm39)	H637N	probably damaging	Het
Pde4b	T	A	4: 102,458,748 (GRCm39)	M296K	probably damaging	Het
Pkd1	A	G	17: 24,794,580 (GRCm39)	H2089R	probably benign	Het
Plaat5	C	T	19: 7,596,656 (GRCm39)	P148S	probably damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Rhebl1	T	C	15: 98,776,160 (GRCm39)	I165V	probably benign	Het
Rock1	A	T	18: 10,106,426 (GRCm39)	V481E	possibly damaging	Het
Rtca	T	A	3: 116,301,476 (GRCm39)	T24S	probably benign	Het
Serpina3c	T	A	12: 104,118,327 (GRCm39)	I4F	possibly damaging	Het
Serpina3j	C	A	12: 104,283,649 (GRCm39)	A249E	possibly damaging	Het
Slc38a9	A	G	13: 112,825,910 (GRCm39)	N116S	probably damaging	Het
Slco2b1	C	T	7: 99,339,770 (GRCm39)	V58I	possibly damaging	Het
Slfn8	T	A	11: 82,908,147 (GRCm39)	Y132F	probably damaging	Het
Smg6	T	G	11: 75,047,033 (GRCm39)	I1242S	probably damaging	Het
Tap2	G	T	17: 34,431,021 (GRCm39)	V374L	probably benign	Het
Tbc1d10b	G	A	7: 126,807,168 (GRCm39)	T123M	probably damaging	Het
Tenm2	A	C	11: 35,899,610 (GRCm39)	V2516G	probably damaging	Het
Tenm3	C	T	8: 48,848,608 (GRCm39)	R12Q	probably damaging	Het
Tmem130	T	A	5: 144,674,661 (GRCm39)	M355L	probably benign	Het
Tns4	C	T	11: 98,966,376 (GRCm39)	S433N	probably benign	Het
Traip	G	T	9: 107,847,818 (GRCm39)		probably null	Het
Trmo	G	A	4: 46,389,390 (GRCm39)	R2C	probably damaging	Het
Ttn	A	T	2: 76,774,504 (GRCm39)	I2134N	probably damaging	Het
Uba1y	A	G	Y: 825,984 (GRCm39)	D380G	probably benign	Het
Ube2t	T	A	1: 134,895,698 (GRCm39)		probably null	Het
Ugdh	A	T	5: 65,574,924 (GRCm39)	Y367*	probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vmn1r84	G	T	7: 12,095,841 (GRCm39)	T284K	possibly damaging	Het
Vmn1r91	T	A	7: 19,835,360 (GRCm39)	F93Y	probably benign	Het
Vmn2r77	T	A	7: 86,450,878 (GRCm39)	Y255N	probably benign	Het
Vmn2r96	A	T	17: 18,804,221 (GRCm39)	Q490H	probably benign	Het
Vwa2	A	G	19: 56,891,897 (GRCm39)		probably null	Het
Vwf	A	G	6: 125,634,028 (GRCm39)	K169E	unknown	Het
Zc3h7b	G	C	15: 81,662,911 (GRCm39)		probably null	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp804b	A	G	5: 6,819,910 (GRCm39)	V1051A	probably benign	Het
Zfp998	A	T	13: 66,579,740 (GRCm39)	C248S	probably damaging	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
R6186:Zfp458	UTSW	13	67,405,701 (GRCm39)	missense	probably damaging	1.00
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'- ATGGATAATGGAAGGCCTTGC -3'
(R):5'- TGGCAAGACCTTACATTGTCCATC -3'

Sequencing Primer
(F):5'- TTGCCACATATATCACACTTGCAGAG -3'
(R):5'- ACCCTACCAGTGTGAAGACTTGG -3'

Posted On

2017-10-10