Mutagenetix > Incidental Mutations

Incidental Mutation 'R8516:Zfp953'

656168

Institutional Source

Beutler Lab

Gene Symbol

Zfp953

Ensembl Gene

ENSMUSG00000098905

Gene Name

zinc finger protein 953

Synonyms

E130120F12Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R8516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67339306-67360605 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67345355 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 75 (Y75F)

Ref Sequence

ENSEMBL: ENSMUSP00000076700 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044819] [ENSMUST00000081582] [ENSMUST00000166080]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044819
AA Change: Y75F

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000049225
Gene: ENSMUSG00000098781
AA Change: Y75F

Domain	Start	End	E-Value	Type
KRAB	5	65	1.15e-23	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081582
AA Change: Y75F

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000076700
Gene: ENSMUSG00000098905
AA Change: Y75F

Domain	Start	End	E-Value	Type
KRAB	5	65	1.15e-23	SMART
ZnF_C2H2	81	103	3.11e-2	SMART
ZnF_C2H2	109	131	8.94e-3	SMART
ZnF_C2H2	137	159	6.23e-2	SMART
ZnF_C2H2	165	187	3.63e-3	SMART
ZnF_C2H2	193	215	1.06e-4	SMART
ZnF_C2H2	221	243	7.05e-1	SMART
ZnF_C2H2	249	271	5.42e-2	SMART
ZnF_C2H2	277	299	6.88e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166080

SMART Domains

Protein: ENSMUSP00000126669
Gene: ENSMUSG00000098692

Domain	Start	End	E-Value	Type
KRAB	2	62	3.07e-33	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	T	9: 4,309,373	S22T	probably benign	Het
Actr8	G	T	14: 29,990,899	A500S	probably benign	Het
Adamtsl1	A	G	4: 86,342,543	Y1005C	probably damaging	Het
Ank3	T	A	10: 69,927,729	Y884*	probably null	Het
Arhgap28	T	C	17: 67,873,073	R306G	probably benign	Het
Atp8a2	A	C	14: 59,691,472	I1044M	probably benign	Het
Bahd1	A	G	2: 118,916,971	Y357C	probably benign	Het
Btd	A	T	14: 31,666,867	T182S	probably damaging	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cisd2	T	C	3: 135,411,013	T106A	probably damaging	Het
Cldn15	G	T	5: 136,974,696	C184F	probably damaging	Het
Clk4	G	A	11: 51,275,261	R198Q	probably damaging	Het
Coprs	G	T	8: 13,885,065	F163L	probably damaging	Het
Csmd3	G	A	15: 47,629,365	R2216*	probably null	Het
Defb7	A	T	8: 19,497,607	I43F	possibly damaging	Het
Dpp8	C	A	9: 65,078,009	T783K	probably damaging	Het
Eif2s1	G	A	12: 78,881,162	G204D	probably damaging	Het
Elavl4	T	C	4: 110,251,379	N56S	probably damaging	Het
Emilin1	G	A	5: 30,917,171	R252H	probably damaging	Het
Exd1	A	T	2: 119,520,073	L569Q	probably damaging	Het
Gm498	T	A	7: 143,897,274	I342N	probably damaging	Het
Gpn2	C	T	4: 133,584,831	R125C	probably damaging	Het
Gria2	T	C	3: 80,706,987	E582G	probably benign	Het
Hadha	A	T	5: 30,126,584	V458E	probably damaging	Het
Hap1	T	C	11: 100,356,067	K4R	possibly damaging	Het
Hectd4	A	T	5: 121,349,010	H3356L	possibly damaging	Het
Herc2	G	A	7: 56,206,570	V3919I	probably benign	Het
Lgr6	G	T	1: 135,075,283	N76K	probably damaging	Het
Olfr692	A	G	7: 105,368,769	I148V	probably benign	Het
P4ha3	A	G	7: 100,314,662	M462V	probably damaging	Het
Pde3b	A	T	7: 114,526,849	M773L	probably benign	Het
Peak1	T	C	9: 56,260,000	S215G	probably damaging	Het
Pgm5	T	A	19: 24,815,710	M331L	probably benign	Het
Piwil2	A	G	14: 70,420,739	V213A	probably benign	Het
Plch2	T	C	4: 154,986,307	H1205R	probably benign	Het
Pop4	A	T	7: 38,267,402	M85K	probably benign	Het
Ppp3ca	T	A	3: 136,877,768	I212N	probably damaging	Het
Prom1	T	C	5: 44,007,099	K714R	probably benign	Het
Psip1	C	T	4: 83,466,715	G207S	probably benign	Het
Rgs22	A	G	15: 36,010,335	*1259Q	probably null	Het
Scn1a	C	T	2: 66,326,134	G477D	possibly damaging	Het
Sf3b1	T	C	1: 55,012,103	E222G	probably null	Het
Snrpa1	G	A	7: 66,070,633	G195R	probably benign	Het
Spem2	T	C	11: 69,816,895	R415G	possibly damaging	Het
Tmem167	T	A	13: 90,098,396	V13E	probably damaging	Het
Trim2	C	T	3: 84,208,320	A102T	probably damaging	Het
Trim30b	A	G	7: 104,357,404	S82P	probably benign	Het
Uba6	A	C	5: 86,127,748	S760R	possibly damaging	Het
Upf2	T	C	2: 6,018,971	F711L	unknown	Het
Utrn	T	A	10: 12,486,510	D2693V	probably damaging	Het
Vmn1r30	T	G	6: 58,435,124	Y241S	probably damaging	Het
Vmn2r110	A	G	17: 20,574,613	L598P	probably damaging	Het
Wfdc18	T	A	11: 83,709,158	F14Y	probably benign	Het
Wnt10b	A	T	15: 98,772,880	C256S	probably damaging	Het
Xrn1	T	A	9: 96,048,391	Y1554*	probably null	Het
Zc3h12a	T	A	4: 125,119,839	S411C	probably damaging	Het
Zfp112	G	A	7: 24,123,964	G63E	probably benign	Het
Zfp786	A	T	6: 47,820,543	L487Q	probably damaging	Het

Other mutations in Zfp953

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03034:Zfp953	APN	13	67343462	missense	probably damaging	1.00
IGL03347:Zfp953	APN	13	67343426	missense	probably benign	0.05
R0111:Zfp953	UTSW	13	67343075	missense	probably damaging	1.00
R1856:Zfp953	UTSW	13	67345358	missense	probably benign	0.02
R2518:Zfp953	UTSW	13	67347939	missense	probably damaging	0.99
R3925:Zfp953	UTSW	13	67347938	missense	probably damaging	0.99
R4777:Zfp953	UTSW	13	67343129	missense	probably benign	0.42
R5647:Zfp953	UTSW	13	67343472	missense	possibly damaging	0.90
R6232:Zfp953	UTSW	13	67343097	missense	possibly damaging	0.94
R6481:Zfp953	UTSW	13	67347937	nonsense	probably null
R7202:Zfp953	UTSW	13	67343642	missense	probably benign	0.02
R7543:Zfp953	UTSW	13	67347889	missense	probably damaging	1.00
R8155:Zfp953	UTSW	13	67343471	missense	probably damaging	0.99
R9317:Zfp953	UTSW	13	67343393	missense	possibly damaging	0.79
Z1177:Zfp953	UTSW	13	67343003	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACGTTAGCTTATGCCCTCC -3'
(R):5'- TCCTTATACACACAGTCTTGGAG -3'

Sequencing Primer
(F):5'- GGCTAACTGAAAACCTGTTGCCTG -3'
(R):5'- GAGGGACATTTTATTTCCCATGTGAC -3'

Posted On

2020-10-20