Mutagenetix > Incidental Mutation

Incidental Mutation 'R6313:Zfp457'

510542

Institutional Source

Beutler Lab

Gene Symbol

Zfp457

Ensembl Gene

ENSMUSG00000055341

Gene Name

zinc finger protein 457

Synonyms

Rslcan-6

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R6313 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67288138-67306485 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67292682 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 610 (E610K)

Ref Sequence

ENSEMBL: ENSMUSP00000053879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049705] [ENSMUST00000224325]

AlphaFold

L7N1X4

Predicted Effect

probably damaging
Transcript: ENSMUST00000049705
AA Change: E610K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053879
Gene: ENSMUSG00000055341
AA Change: E610K

Domain	Start	End	E-Value	Type
KRAB	5	65	1.55e-29	SMART
ZnF_C2H2	81	103	2.75e-3	SMART
ZnF_C2H2	109	131	1.1e-2	SMART
ZnF_C2H2	165	187	3.63e-3	SMART
ZnF_C2H2	193	215	2.4e-3	SMART
ZnF_C2H2	221	243	1.12e-3	SMART
ZnF_C2H2	249	271	6.32e-3	SMART
ZnF_C2H2	277	299	6.32e-3	SMART
ZnF_C2H2	305	327	3.52e-1	SMART
ZnF_C2H2	333	355	3.89e-3	SMART
ZnF_C2H2	361	383	7.26e-3	SMART
ZnF_C2H2	389	411	1.2e-3	SMART
ZnF_C2H2	417	439	7.67e-2	SMART
ZnF_C2H2	445	467	1.05e1	SMART
ZnF_C2H2	473	495	3.11e-2	SMART
ZnF_C2H2	501	523	5.9e-3	SMART
ZnF_C2H2	529	551	9.08e-4	SMART
ZnF_C2H2	585	607	5.72e-1	SMART
transmembrane domain	624	646	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225090

Predicted Effect

probably benign
Transcript: ENSMUST00000225338

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	C	T	9: 51,290,181	D192N	probably damaging	Het
4932415D10Rik	T	C	10: 82,293,636	N1180S	probably benign	Het
Abca16	T	C	7: 120,527,121	F1167L	probably damaging	Het
Abraxas2	G	A	7: 132,874,965	A145T	probably damaging	Het
Acaca	C	T	11: 84,292,929	T32I	probably benign	Het
Adam6a	A	T	12: 113,545,050	N348Y	possibly damaging	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Arhgef38	T	C	3: 133,234,708	D39G	possibly damaging	Het
Arid5b	T	C	10: 68,097,582	D587G	possibly damaging	Het
Brwd1	A	G	16: 96,007,941	V1963A	probably benign	Het
Ccdc136	T	A	6: 29,410,205	L34Q	probably damaging	Het
Cdh2	T	C	18: 16,774,522	Q53R	probably benign	Het
Celsr2	G	A	3: 108,401,214	S1799L	probably damaging	Het
Cenpe	A	G	3: 135,230,175	E457G	probably benign	Het
Cmtm1	A	T	8: 104,305,163	M283K	possibly damaging	Het
Dcdc5	T	C	2: 106,368,171		noncoding transcript	Het
Decr1	T	A	4: 15,924,261	M220L	probably benign	Het
Dgkg	T	G	16: 22,519,561	D592A	probably damaging	Het
Dkkl1	T	C	7: 45,211,438	Q39R	probably benign	Het
Dyrk1a	T	A	16: 94,659,514	C10S	possibly damaging	Het
Efcab2	A	T	1: 178,481,371	E146D	probably benign	Het
Efhc1	T	C	1: 20,979,428	V504A	possibly damaging	Het
Ermard	T	G	17: 15,053,205		probably null	Het
Espl1	T	C	15: 102,315,812	V1266A	probably benign	Het
Fbxw22	A	C	9: 109,403,397	V40G	probably damaging	Het
Gm3460	A	T	14: 6,619,410	I194N	possibly damaging	Het
Gnai2	C	T	9: 107,620,097	V33M	possibly damaging	Het
H2-DMb1	T	C	17: 34,157,532		probably null	Het
Hc	T	C	2: 34,989,839		probably null	Het
Iars	T	C	13: 49,708,445	S491P	probably damaging	Het
Knl1	T	A	2: 119,069,318	L500H	probably damaging	Het
Lamb1	A	T	12: 31,269,147	T102S	probably damaging	Het
Lrrc7	A	G	3: 158,160,736	S1123P	probably damaging	Het
Mettl5	C	A	2: 69,871,727		probably null	Het
Mmp11	A	G	10: 75,923,984	*4R	probably null	Het
Myom1	A	T	17: 71,082,488	D911V	probably benign	Het
Nid1	A	G	13: 13,463,782	T96A	probably benign	Het
Nlrp4e	G	T	7: 23,353,172	V839L	probably benign	Het
Notch3	A	T	17: 32,151,154		probably null	Het
Olfr1082	T	C	2: 86,594,067	T254A	possibly damaging	Het
Pcdh8	T	C	14: 79,767,651	H978R	probably benign	Het
Pde8b	A	T	13: 95,042,000	C537*	probably null	Het
Polr1b	T	C	2: 129,125,446	F920L	probably damaging	Het
Polr2f	A	G	15: 79,151,373	T87A	probably damaging	Het
Pon2	T	A	6: 5,272,421	H133L	probably damaging	Het
Ptk2b	T	A	14: 66,178,831	E205V	probably damaging	Het
Rb1cc1	T	A	1: 6,244,133	M343K	probably benign	Het
Rlf	G	A	4: 121,148,610	R1058W	probably damaging	Het
S100z	T	A	13: 95,478,574	K28*	probably null	Het
Scarf1	T	A	11: 75,520,315	N273K	probably benign	Het
Setd2	A	G	9: 110,556,366	I136M	unknown	Het
Sfrp2	A	G	3: 83,766,984	D148G	probably benign	Het
Slc24a4	A	G	12: 102,254,510	E400G	probably benign	Het
Slc2a9	T	G	5: 38,453,121	I112L	probably benign	Het
Smc5	A	T	19: 23,208,948	Y972*	probably null	Het
Sntg1	T	C	1: 8,445,024		probably null	Het
Stag1	A	G	9: 100,757,733	D114G	probably damaging	Het
Suclg1	T	C	6: 73,256,209	S46P	probably damaging	Het
Synj1	C	T	16: 90,946,815	A1186T	probably benign	Het
Tas2r124	A	G	6: 132,755,447	T240A	probably benign	Het
Tax1bp1	T	C	6: 52,744,356		probably null	Het
Tchh	C	A	3: 93,447,851	Q1533K	unknown	Het
Tmprss15	T	C	16: 78,962,170	T887A	probably benign	Het
Ttn	T	C	2: 76,706,593	I34963V	probably benign	Het
Unc79	G	A	12: 103,112,619	G1485D	probably damaging	Het
Usp9y	G	T	Y: 1,385,355	H633N	probably benign	Homo
Vmn2r99	A	T	17: 19,382,605	N541Y	probably damaging	Het
Zbtb11	T	A	16: 55,990,491	N337K	probably benign	Het
Zfp260	T	A	7: 30,104,842	C56S	possibly damaging	Het

Other mutations in Zfp457

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Zfp457	APN	13	67294266	missense	possibly damaging	0.46
IGL02259:Zfp457	APN	13	67296407	missense	possibly damaging	0.88
R0055:Zfp457	UTSW	13	67294034	missense	probably damaging	0.99
R0055:Zfp457	UTSW	13	67294034	missense	probably damaging	0.99
R0149:Zfp457	UTSW	13	67292646	missense	probably damaging	0.97
R0211:Zfp457	UTSW	13	67293147	missense	probably benign	0.01
R0211:Zfp457	UTSW	13	67293147	missense	probably benign	0.01
R0230:Zfp457	UTSW	13	67294116	missense	possibly damaging	0.91
R0270:Zfp457	UTSW	13	67293927	missense	probably damaging	1.00
R0361:Zfp457	UTSW	13	67292646	missense	probably damaging	0.97
R0561:Zfp457	UTSW	13	67294070	missense	probably damaging	1.00
R0679:Zfp457	UTSW	13	67293591	missense	probably damaging	1.00
R0826:Zfp457	UTSW	13	67293314	missense	possibly damaging	0.85
R1136:Zfp457	UTSW	13	67293782	missense	probably damaging	1.00
R1175:Zfp457	UTSW	13	67293684	missense	probably damaging	1.00
R1523:Zfp457	UTSW	13	67293437	missense	probably damaging	1.00
R1616:Zfp457	UTSW	13	67296311	missense	possibly damaging	0.95
R2348:Zfp457	UTSW	13	67293404	missense	probably benign	0.33
R4930:Zfp457	UTSW	13	67294100	missense	probably damaging	1.00
R4964:Zfp457	UTSW	13	67293278	missense	probably damaging	1.00
R4966:Zfp457	UTSW	13	67293278	missense	probably damaging	1.00
R5040:Zfp457	UTSW	13	67292835	missense	probably benign	0.03
R5129:Zfp457	UTSW	13	67293356	missense	probably benign	0.00
R5714:Zfp457	UTSW	13	67296426	missense	possibly damaging	0.85
R6017:Zfp457	UTSW	13	67293699	missense	probably damaging	1.00
R6052:Zfp457	UTSW	13	67293951	missense	probably damaging	1.00
R6132:Zfp457	UTSW	13	67293296	nonsense	probably null
R6184:Zfp457	UTSW	13	67292912	missense	possibly damaging	0.89
R7038:Zfp457	UTSW	13	67293933	missense	probably benign	0.00
R7170:Zfp457	UTSW	13	67294177	nonsense	probably null
R7184:Zfp457	UTSW	13	67294001	missense	possibly damaging	0.69
R7859:Zfp457	UTSW	13	67306381	start gained	probably benign
R7973:Zfp457	UTSW	13	67293818	missense	probably benign	0.20
R8308:Zfp457	UTSW	13	67293599	missense	probably benign	0.00
R8346:Zfp457	UTSW	13	67293798	nonsense	probably null
R9114:Zfp457	UTSW	13	67294004	missense	probably benign	0.16
R9205:Zfp457	UTSW	13	67293901	missense	probably benign	0.00
R9525:Zfp457	UTSW	13	67293428	missense	probably damaging	1.00
R9765:Zfp457	UTSW	13	67292810	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TACCCAAGGAGCTAAAGGGAT -3'
(R):5'- TCCATTACCCATCAAGACTTTCCA -3'

Sequencing Primer
(F):5'- CTAGTCGGCCATCACTGGAAAG -3'
(R):5'- CCCATCAAGACTTTCCAAACATAAG -3'

Posted On

2018-04-02