Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4504001:Zfp455'

556024

Institutional Source

Beutler Lab

Gene Symbol

Zfp455

Ensembl Gene

ENSMUSG00000051037

Gene Name

zinc finger protein 455

Synonyms

Rslcan-10, 3732412P20Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.502) question?

Stock #

PIT4504001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67194506-67209298 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67198621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 32 (D32G)

Ref Sequence

ENSEMBL: ENSMUSP00000112546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117110] [ENSMUST00000120861]

AlphaFold

Q7M6X9

Predicted Effect

probably benign
Transcript: ENSMUST00000117110

SMART Domains

Protein: ENSMUSP00000113356
Gene: ENSMUSG00000051037

Domain	Start	End	E-Value	Type
ZnF_C2H2	44	66	7.15e-2	SMART
ZnF_C2H2	72	94	1.6e-4	SMART
ZnF_C2H2	100	122	2.12e-4	SMART
ZnF_C2H2	128	150	6.23e-2	SMART
ZnF_C2H2	184	206	1.01e-1	SMART
ZnF_C2H2	212	234	3.11e-2	SMART
ZnF_C2H2	240	262	1.1e-2	SMART
ZnF_C2H2	268	290	1.38e-3	SMART
ZnF_C2H2	296	318	3.58e-2	SMART
ZnF_C2H2	324	346	2.24e-3	SMART
ZnF_C2H2	352	374	7.9e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120861
AA Change: D32G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112546
Gene: ENSMUSG00000051037
AA Change: D32G

Domain	Start	End	E-Value	Type
KRAB	5	65	1.92e-34	SMART
ZnF_C2H2	109	131	7.15e-2	SMART
ZnF_C2H2	137	159	1.6e-4	SMART
ZnF_C2H2	165	187	2.12e-4	SMART
ZnF_C2H2	193	215	6.23e-2	SMART
ZnF_C2H2	249	271	1.01e-1	SMART
ZnF_C2H2	277	299	3.11e-2	SMART
ZnF_C2H2	305	327	1.1e-2	SMART
ZnF_C2H2	333	355	1.38e-3	SMART
ZnF_C2H2	361	383	3.58e-2	SMART
ZnF_C2H2	389	411	2.24e-3	SMART
ZnF_C2H2	417	439	7.9e-4	SMART

Coding Region Coverage

1x: 92.8%
3x: 90.6%
10x: 84.7%
20x: 71.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,717,192	C970*	probably null	Het
Adgrv1	G	A	13: 81,559,352	P1312S	probably damaging	Het
Als2cr12	T	A	1: 58,659,099	I348F	probably benign	Het
Arid5a	T	C	1: 36,317,625	I116T	probably damaging	Het
Bank1	C	A	3: 136,100,419	D485Y	probably damaging	Het
Cbln3	C	T	14: 55,883,499	V122M	probably damaging	Het
Cox10	C	T	11: 63,964,216	C413Y	possibly damaging	Het
Ctsll3	T	A	13: 60,801,009	D44V	probably benign	Het
Cuzd1	A	T	7: 131,309,800	N483K	possibly damaging	Het
Dcaf4	G	A	12: 83,534,011		probably null	Het
Ddx60	A	G	8: 61,958,113	T470A	probably benign	Het
Dennd1b	T	C	1: 139,040,004	V44A	probably benign	Het
Dusp16	C	A	6: 134,739,883	V154F	possibly damaging	Het
Ect2	G	A	3: 27,126,948	R586*	probably null	Het
Ermard	T	A	17: 15,058,822	C460*	probably null	Het
Fat2	C	T	11: 55,256,110	G4020D	possibly damaging	Het
Galnt16	G	T	12: 80,592,417	E402*	probably null	Het
Gm5414	T	G	15: 101,625,823	D282A	probably damaging	Het
Gm6741	C	T	17: 91,236,916	Q36*	probably null	Het
Gm7356	A	T	17: 14,001,458	L103Q	probably damaging	Het
Hcn1	A	G	13: 117,975,875	T792A	possibly damaging	Het
Hemgn	T	C	4: 46,395,863	N458D	probably benign	Het
Hesx1	C	A	14: 27,001,881	D140E	probably benign	Het
Hfe2	A	T	3: 96,528,497	D357V	probably damaging	Het
Hmgcr	A	G	13: 96,663,097	I163T	possibly damaging	Het
Igfbpl1	T	C	4: 45,813,469	T249A	possibly damaging	Het
Il33	A	T	19: 29,952,739	H78L	probably benign	Het
Inpp4b	A	T	8: 82,041,935	D691V	probably damaging	Het
Itpr2	T	A	6: 146,229,871	N1945I	probably damaging	Het
Lnpep	A	G	17: 17,579,027	V122A	probably benign	Het
Lrp2	T	C	2: 69,475,403	D2938G	probably damaging	Het
Lrrc8c	A	T	5: 105,608,537	Y726F	probably benign	Het
Magi3	G	T	3: 104,015,526	Q1292K	probably benign	Het
Mllt3	A	C	4: 87,774,087	F546L	probably damaging	Het
Mrpl14	A	G	17: 45,698,221	K82R	probably benign	Het
Noxred1	A	G	12: 87,224,879	V172A	possibly damaging	Het
Obscn	A	T	11: 59,133,122	I574N	probably damaging	Het
Olfr133	A	G	17: 38,149,169	T194A	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,308	T134S	probably benign	Het
Osbpl11	T	A	16: 33,234,494	V649D	probably benign	Het
Pdlim2	G	T	14: 70,166,130	P278T	probably benign	Het
Pm20d2	A	C	4: 33,183,152	L223V	probably damaging	Het
Pmpcb	G	T	5: 21,743,390	R223L	probably damaging	Het
Pole2	A	T	12: 69,209,985	Y255*	probably null	Het
Rims1	T	A	1: 22,397,460	I317L		Het
Scnn1g	C	A	7: 121,742,331	H239N	probably benign	Het
Spag17	A	G	3: 100,103,110		probably null	Het
Tenm3	A	T	8: 48,293,657	F1038I	probably damaging	Het
Tshz2	T	C	2: 169,886,051	F856L	probably damaging	Het
Ubtf	A	G	11: 102,306,682	S715P	unknown	Het
Usp13	A	C	3: 32,905,430	S557R	probably damaging	Het
Usp19	T	A	9: 108,492,970	S43T	probably benign	Het
Vmn2r7	A	T	3: 64,715,976	Y308N	probably benign	Het
Zfp512	T	A	5: 31,476,881		probably null	Het
Zfr	A	G	15: 12,166,158	E838G	possibly damaging	Het

Other mutations in Zfp455

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Zfp455	APN	13	67207898	missense	probably benign	0.33
IGL03111:Zfp455	APN	13	67207999	missense	probably benign	0.00
IGL03210:Zfp455	APN	13	67207049	missense	possibly damaging	0.93
IGL03371:Zfp455	APN	13	67207002	nonsense	probably null
R0245:Zfp455	UTSW	13	67207835	missense	probably damaging	1.00
R0277:Zfp455	UTSW	13	67198664	splice site	probably null
R1141:Zfp455	UTSW	13	67198591	missense	probably damaging	1.00
R1266:Zfp455	UTSW	13	67206964	nonsense	probably null
R1657:Zfp455	UTSW	13	67198639	missense	possibly damaging	0.83
R1749:Zfp455	UTSW	13	67207009	missense	probably damaging	1.00
R1757:Zfp455	UTSW	13	67207537	missense	probably damaging	1.00
R1854:Zfp455	UTSW	13	67207817	missense	probably damaging	1.00
R1867:Zfp455	UTSW	13	67207445	missense	probably benign	0.33
R4411:Zfp455	UTSW	13	67207325	missense	probably damaging	0.96
R6060:Zfp455	UTSW	13	67207193	missense	probably damaging	1.00
R6544:Zfp455	UTSW	13	67207057	missense	probably benign	0.33
R7132:Zfp455	UTSW	13	67199166	missense	probably damaging	1.00
R7524:Zfp455	UTSW	13	67207624	missense	possibly damaging	0.73
R7966:Zfp455	UTSW	13	67199238	missense	probably benign
R8848:Zfp455	UTSW	13	67208025	missense	possibly damaging	0.70
R8994:Zfp455	UTSW	13	67207414	missense	probably damaging	1.00
Z1176:Zfp455	UTSW	13	67207043	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGCAGAGGACTATGTATGACC -3'
(R):5'- GAGGCATGCTTCCAACACAG -3'

Sequencing Primer
(F):5'- GACCTTGTGATCTGACCCAATAGG -3'
(R):5'- CAATGACATGTTTCTTAGCTGTACAG -3'

Posted On

2019-06-07