Mutagenetix > Incidental Mutation

Incidental Mutation 'R0230:Zfp457'

34076

Institutional Source

Beutler Lab

Gene Symbol

Zfp457

Ensembl Gene

ENSMUSG00000055341

Gene Name

zinc finger protein 457

Synonyms

Rslcan-6

MMRRC Submission

038473-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R0230 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67440514-67454476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67442180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 132 (T132A)

Ref Sequence

ENSEMBL: ENSMUSP00000053879 (fasta)

Gene Model

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

AlphaFold

L7N1X4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049705
AA Change: T132A

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053879
Gene: ENSMUSG00000055341
AA Change: T132A

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

possibly damaging
Transcript: ENSMUST00000224325
AA Change: T36A

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225090

Predicted Effect

probably benign
Transcript: ENSMUST00000225338

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.7%

Validation Efficiency

100% (83/83)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amy1	T	C	3: 113,352,079 (GRCm39)	D371G	probably benign	Het
Asrgl1	T	A	19: 9,095,883 (GRCm39)		probably benign	Het
Asxl3	T	A	18: 22,585,383 (GRCm39)		probably benign	Het
B3galnt1	T	C	3: 69,482,673 (GRCm39)	N196S	possibly damaging	Het
Bbof1	A	G	12: 84,471,978 (GRCm39)	H74R	probably damaging	Het
Bpifb9b	C	T	2: 154,158,995 (GRCm39)	T504M	probably damaging	Het
Cdk12	T	G	11: 98,094,817 (GRCm39)	S208R	probably damaging	Het
Cdk5r1	T	C	11: 80,368,576 (GRCm39)	L81P	probably damaging	Het
Chrd	T	C	16: 20,552,025 (GRCm39)	L43P	probably benign	Het
Col6a4	A	C	9: 105,949,565 (GRCm39)	M690R	probably benign	Het
Cyp39a1	A	T	17: 44,042,903 (GRCm39)	R418W	probably damaging	Het
Dars2	C	T	1: 160,890,357 (GRCm39)	V162M	probably benign	Het
Dixdc1	C	T	9: 50,606,807 (GRCm39)	V270M	possibly damaging	Het
Dnah11	C	A	12: 117,946,791 (GRCm39)	E1194*	probably null	Het
Dnah7b	T	C	1: 46,258,508 (GRCm39)	S1900P	probably damaging	Het
Dnah9	C	T	11: 65,746,141 (GRCm39)	E3991K	probably damaging	Het
Dsp	A	T	13: 38,381,681 (GRCm39)	I2210F	probably benign	Het
Ebf1	A	G	11: 44,886,949 (GRCm39)	S556G	probably damaging	Het
Enam	G	A	5: 88,637,514 (GRCm39)		probably benign	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Epc1	T	C	18: 6,440,168 (GRCm39)	D579G	probably damaging	Het
Ephb3	A	T	16: 21,039,525 (GRCm39)	I426F	probably damaging	Het
Fam135b	T	G	15: 71,317,886 (GRCm39)	I1359L	probably benign	Het
Fcgbpl1	T	A	7: 27,856,250 (GRCm39)	H2012Q	probably damaging	Het
Gm16519	T	C	17: 71,236,128 (GRCm39)	S26P	probably benign	Het
Gm17622	T	A	13: 96,627,594 (GRCm39)		probably null	Het
Gpat2	G	A	2: 127,277,765 (GRCm39)	V764I	possibly damaging	Het
Gpx4	G	A	10: 79,890,838 (GRCm39)	A81T	probably benign	Het
Gss	C	A	2: 155,420,326 (GRCm39)	R83L	probably damaging	Het
Hcls1	C	A	16: 36,758,216 (GRCm39)	Q36K	probably damaging	Het
Hepacam2	A	G	6: 3,463,336 (GRCm39)	V438A	probably benign	Het
Hnf4a	T	C	2: 163,401,005 (GRCm39)	F184S	probably damaging	Het
Katnal1	T	A	5: 148,855,460 (GRCm39)	D90V	possibly damaging	Het
Kcnt2	A	G	1: 140,174,083 (GRCm39)	D30G	probably benign	Het
Kyat1	T	C	2: 30,084,087 (GRCm39)	E11G	probably benign	Het
Lefty1	T	A	1: 180,764,579 (GRCm39)	V168E	probably damaging	Het
Map2k6	C	T	11: 110,387,281 (GRCm39)	P218S	probably damaging	Het
Mlkl	C	G	8: 112,041,694 (GRCm39)	K415N	probably benign	Het
Myh7	A	T	14: 55,211,390 (GRCm39)	M1593K	probably benign	Het
Myo19	T	A	11: 84,784,159 (GRCm39)	C186S	possibly damaging	Het
Ngp	T	C	9: 110,249,069 (GRCm39)	L47P	probably damaging	Het
Nkiras1	A	G	14: 18,280,185 (GRCm38)	N192S	probably benign	Het
Or1j17	G	A	2: 36,578,628 (GRCm39)	V205M	probably benign	Het
Or2n1	A	G	17: 38,486,841 (GRCm39)	I289V	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or8u9	T	C	2: 86,001,886 (GRCm39)	I92V	probably benign	Het
Pdcd6ip	A	G	9: 113,514,361 (GRCm39)		probably benign	Het
Pde4b	T	C	4: 102,454,707 (GRCm39)	Y186H	probably benign	Het
Pex7	A	G	10: 19,780,331 (GRCm39)	V101A	possibly damaging	Het
Phldb3	G	A	7: 24,312,004 (GRCm39)	R106Q	probably benign	Het
Plxnc1	A	G	10: 94,635,209 (GRCm39)	V1339A	probably benign	Het
Proser1	A	G	3: 53,386,383 (GRCm39)	N755S	probably damaging	Het
Ptpn13	A	G	5: 103,674,997 (GRCm39)	D658G	probably damaging	Het
Rassf8	A	C	6: 145,765,700 (GRCm39)		probably benign	Het
Rfc4	G	A	16: 22,932,849 (GRCm39)	Q363*	probably null	Het
Rxfp1	T	C	3: 79,552,282 (GRCm39)	N673S	probably damaging	Het
Scn7a	T	C	2: 66,556,628 (GRCm39)	E319G	probably damaging	Het
Scnn1g	A	G	7: 121,345,984 (GRCm39)		probably benign	Het
Scube2	C	T	7: 109,423,971 (GRCm39)		probably null	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc6a13	A	G	6: 121,301,262 (GRCm39)	N184D	probably benign	Het
Slco1a5	T	A	6: 142,182,054 (GRCm39)		probably benign	Het
Slf1	T	A	13: 77,260,867 (GRCm39)		probably benign	Het
Smarca4	G	A	9: 21,612,168 (GRCm39)	V1518I	probably damaging	Het
Smyd3	A	G	1: 179,250,993 (GRCm39)		probably benign	Het
Sox5	A	G	6: 144,155,064 (GRCm39)	F11L	probably benign	Het
Spag17	T	C	3: 100,014,143 (GRCm39)	S2139P	probably benign	Het
Spice1	A	T	16: 44,185,939 (GRCm39)		probably benign	Het
Sptan1	T	A	2: 29,900,704 (GRCm39)		probably benign	Het
Srebf2	T	A	15: 82,066,286 (GRCm39)	N571K	probably damaging	Het
Tbl3	A	G	17: 24,920,307 (GRCm39)	L670P	probably damaging	Het
Tmem45a2	A	G	16: 56,867,359 (GRCm39)	V114A	possibly damaging	Het
Tmigd3	A	G	3: 105,826,053 (GRCm39)	N132D	possibly damaging	Het
Ttn	T	C	2: 76,567,778 (GRCm39)	D19378G	probably damaging	Het
Ugcg	C	A	4: 59,189,739 (GRCm39)	Y32*	probably null	Het
Ush2a	C	T	1: 188,582,301 (GRCm39)	P3788L	probably damaging	Het
Usp22	T	A	11: 61,050,023 (GRCm39)		probably benign	Het
Xaf1	T	C	11: 72,197,381 (GRCm39)		probably benign	Het
Zbtb41	C	T	1: 139,374,673 (GRCm39)	T711I	probably damaging	Het
Zfp64	T	G	2: 168,754,150 (GRCm39)		probably benign	Het

Other mutations in Zfp457

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Zfp457	APN	13	67,442,330 (GRCm39)	missense	possibly damaging	0.46
IGL02259:Zfp457	APN	13	67,444,471 (GRCm39)	missense	possibly damaging	0.88
R0055:Zfp457	UTSW	13	67,442,098 (GRCm39)	missense	probably damaging	0.99
R0055:Zfp457	UTSW	13	67,442,098 (GRCm39)	missense	probably damaging	0.99
R0149:Zfp457	UTSW	13	67,440,710 (GRCm39)	missense	probably damaging	0.97
R0211:Zfp457	UTSW	13	67,441,211 (GRCm39)	missense	probably benign	0.01
R0211:Zfp457	UTSW	13	67,441,211 (GRCm39)	missense	probably benign	0.01
R0270:Zfp457	UTSW	13	67,441,991 (GRCm39)	missense	probably damaging	1.00
R0361:Zfp457	UTSW	13	67,440,710 (GRCm39)	missense	probably damaging	0.97
R0561:Zfp457	UTSW	13	67,442,134 (GRCm39)	missense	probably damaging	1.00
R0679:Zfp457	UTSW	13	67,441,655 (GRCm39)	missense	probably damaging	1.00
R0826:Zfp457	UTSW	13	67,441,378 (GRCm39)	missense	possibly damaging	0.85
R1136:Zfp457	UTSW	13	67,441,846 (GRCm39)	missense	probably damaging	1.00
R1175:Zfp457	UTSW	13	67,441,748 (GRCm39)	missense	probably damaging	1.00
R1523:Zfp457	UTSW	13	67,441,501 (GRCm39)	missense	probably damaging	1.00
R1616:Zfp457	UTSW	13	67,444,375 (GRCm39)	missense	possibly damaging	0.95
R2348:Zfp457	UTSW	13	67,441,468 (GRCm39)	missense	probably benign	0.33
R4930:Zfp457	UTSW	13	67,442,164 (GRCm39)	missense	probably damaging	1.00
R4964:Zfp457	UTSW	13	67,441,342 (GRCm39)	missense	probably damaging	1.00
R4966:Zfp457	UTSW	13	67,441,342 (GRCm39)	missense	probably damaging	1.00
R5040:Zfp457	UTSW	13	67,440,899 (GRCm39)	missense	probably benign	0.03
R5129:Zfp457	UTSW	13	67,441,420 (GRCm39)	missense	probably benign	0.00
R5714:Zfp457	UTSW	13	67,444,490 (GRCm39)	missense	possibly damaging	0.85
R6017:Zfp457	UTSW	13	67,441,763 (GRCm39)	missense	probably damaging	1.00
R6052:Zfp457	UTSW	13	67,442,015 (GRCm39)	missense	probably damaging	1.00
R6132:Zfp457	UTSW	13	67,441,360 (GRCm39)	nonsense	probably null
R6184:Zfp457	UTSW	13	67,440,976 (GRCm39)	missense	possibly damaging	0.89
R6313:Zfp457	UTSW	13	67,440,746 (GRCm39)	missense	probably damaging	1.00
R7038:Zfp457	UTSW	13	67,441,997 (GRCm39)	missense	probably benign	0.00
R7170:Zfp457	UTSW	13	67,442,241 (GRCm39)	nonsense	probably null
R7184:Zfp457	UTSW	13	67,442,065 (GRCm39)	missense	possibly damaging	0.69
R7859:Zfp457	UTSW	13	67,454,445 (GRCm39)	start gained	probably benign
R7973:Zfp457	UTSW	13	67,441,882 (GRCm39)	missense	probably benign	0.20
R8308:Zfp457	UTSW	13	67,441,663 (GRCm39)	missense	probably benign	0.00
R8346:Zfp457	UTSW	13	67,441,862 (GRCm39)	nonsense	probably null
R9114:Zfp457	UTSW	13	67,442,068 (GRCm39)	missense	probably benign	0.16
R9205:Zfp457	UTSW	13	67,441,965 (GRCm39)	missense	probably benign	0.00
R9525:Zfp457	UTSW	13	67,441,492 (GRCm39)	missense	probably damaging	1.00
R9765:Zfp457	UTSW	13	67,440,874 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ggttttttccctgtatgaaCAATTTTGTGTTG -3'
(R):5'- GGCTTTCACCTATGCTGTGTTGTACTT -3'

Sequencing Primer
(F):5'- attctcttatggttggaaagtcttg -3'
(R):5'- ACTTAGGCTTCAATGAGTACAGATAG -3'

Posted On

2013-05-09