Mutagenetix > Incidental Mutation

Incidental Mutation 'R0196:Zfp954'

23435

Institutional Source

Beutler Lab

Gene Symbol

Zfp954

Ensembl Gene

ENSMUSG00000062116

Gene Name

zinc finger protein 954

Synonyms

5730403M16Rik

MMRRC Submission

038455-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R0196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7114690-7121488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7115391 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 385 (V385M)

Ref Sequence

ENSEMBL: ENSMUSP00000072585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056246]

AlphaFold

Q7TNU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000056246
AA Change: V385M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072585
Gene: ENSMUSG00000062116
AA Change: V385M

Domain	Start	End	E-Value	Type
KRAB	42	102	4.6e-14	SMART
ZnF_C2H2	198	220	5.14e-3	SMART
ZnF_C2H2	226	248	3.21e-4	SMART
ZnF_C2H2	254	276	3.63e-3	SMART
ZnF_C2H2	282	304	7.9e-4	SMART
ZnF_C2H2	310	332	1.69e-3	SMART
ZnF_C2H2	338	360	1.26e-2	SMART
ZnF_C2H2	364	386	2.01e-5	SMART
ZnF_C2H2	392	414	1.26e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210142

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 81.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,616,247 (GRCm38)		probably benign	Het
Aass	G	A	6: 23,109,520 (GRCm38)	P317L	probably damaging	Het
Abca12	T	A	1: 71,259,813 (GRCm38)	N2313I	possibly damaging	Het
Adamts12	T	C	15: 11,071,508 (GRCm38)	I46T	probably benign	Het
Adipoq	T	G	16: 23,146,643 (GRCm38)		probably null	Het
Amy1	A	T	3: 113,569,421 (GRCm38)	D92E	probably benign	Het
Asb15	G	A	6: 24,564,393 (GRCm38)	R282Q	probably damaging	Het
Bag6	G	C	17: 35,144,263 (GRCm38)	G693A	probably damaging	Het
Birc6	T	C	17: 74,580,287 (GRCm38)	I870T	possibly damaging	Het
Cand2	A	G	6: 115,789,502 (GRCm38)	K356R	probably damaging	Het
Cbfa2t3	T	C	8: 122,633,337 (GRCm38)	Q525R	possibly damaging	Het
Ccdc94	C	A	17: 55,964,653 (GRCm38)	D191E	probably damaging	Het
Cd4	T	C	6: 124,867,806 (GRCm38)	R339G	probably damaging	Het
Cdh8	A	G	8: 99,190,434 (GRCm38)	S350P	probably damaging	Het
Cep295	A	T	9: 15,338,213 (GRCm38)	S469T	probably damaging	Het
Ckap2l	A	T	2: 129,285,422 (GRCm38)	S279T	probably benign	Het
Clnk	T	A	5: 38,769,939 (GRCm38)	N66Y	probably damaging	Het
Col27a1	A	T	4: 63,224,266 (GRCm38)	T64S	probably benign	Het
Crtc1	T	C	8: 70,386,221 (GRCm38)	D599G	probably damaging	Het
Cyp2c23	A	C	19: 44,012,356 (GRCm38)	I363S	probably damaging	Het
Dnah10	A	T	5: 124,834,075 (GRCm38)	I4519F	possibly damaging	Het
Dner	T	A	1: 84,370,832 (GRCm38)	I716F	probably damaging	Het
Dsel	T	G	1: 111,861,603 (GRCm38)	T401P	possibly damaging	Het
Egfr	A	G	11: 16,911,746 (GRCm38)	D1175G	probably benign	Het
Ephb3	A	T	16: 21,218,054 (GRCm38)	N343I	probably damaging	Het
Fbxw10	T	A	11: 62,877,244 (GRCm38)	F974I	probably benign	Het
Gfi1b	T	C	2: 28,613,774 (GRCm38)	Y138C	probably damaging	Het
Gm11168	T	A	9: 3,005,175 (GRCm38)	L6H	probably benign	Het
Grb10	A	C	11: 11,945,583 (GRCm38)	V247G	probably damaging	Het
Gstp2	A	T	19: 4,040,514 (GRCm38)		probably null	Het
Hars2	C	T	18: 36,789,204 (GRCm38)	Q291*	probably null	Het
Hyal4	G	T	6: 24,756,221 (GRCm38)	W146L	probably damaging	Het
Il22ra1	C	T	4: 135,734,245 (GRCm38)	T107I	possibly damaging	Het
Itga8	A	G	2: 12,204,729 (GRCm38)		probably null	Het
Klhl25	T	C	7: 75,865,702 (GRCm38)	S119P	probably damaging	Het
Krt81	C	A	15: 101,463,627 (GRCm38)	R24L	possibly damaging	Het
Lrrc8c	T	C	5: 105,606,770 (GRCm38)	V137A	probably benign	Het
Macrod2	A	T	2: 142,176,625 (GRCm38)	E226V	probably damaging	Het
Mcemp1	A	T	8: 3,668,201 (GRCm38)	Q165L	probably benign	Het
Mcpt9	T	A	14: 56,027,996 (GRCm38)	K82M	probably benign	Het
Mpzl3	A	G	9: 45,062,160 (GRCm38)	T66A	probably damaging	Het
Msh6	G	A	17: 87,980,360 (GRCm38)	V143I	possibly damaging	Het
Mug1	G	A	6: 121,838,725 (GRCm38)		probably null	Het
Ncr1	G	T	7: 4,340,973 (GRCm38)	C153F	probably damaging	Het
Nf1	T	A	11: 79,578,272 (GRCm38)	V786D	probably damaging	Het
Nf1	T	A	11: 79,468,769 (GRCm38)	M1411K	possibly damaging	Het
Nisch	T	C	14: 31,203,394 (GRCm38)		probably benign	Het
Nwd2	T	A	5: 63,806,351 (GRCm38)	Y1093N	probably benign	Het
Oas3	G	A	5: 120,756,145 (GRCm38)	R39C	probably damaging	Het
Olfr1352	C	T	10: 78,984,189 (GRCm38)	T133I	possibly damaging	Het
Olfr392	A	T	11: 73,814,905 (GRCm38)	M59K	probably damaging	Het
Oxa1l	T	C	14: 54,363,487 (GRCm38)	I139T	probably damaging	Het
P3h3	T	A	6: 124,845,272 (GRCm38)	N583Y	probably damaging	Het
Pcdh18	A	T	3: 49,756,698 (GRCm38)		probably null	Het
Pcnp	C	T	16: 56,024,533 (GRCm38)		probably benign	Het
Pdzd8	G	T	19: 59,301,131 (GRCm38)	D612E	probably benign	Het
Pi4kb	T	C	3: 94,998,950 (GRCm38)	S8P	probably damaging	Het
Pikfyve	T	G	1: 65,256,072 (GRCm38)	V1454G	possibly damaging	Het
Podn	T	C	4: 108,021,498 (GRCm38)	N246D	probably damaging	Het
Prg4	T	C	1: 150,454,492 (GRCm38)		probably benign	Het
R3hdm2	T	C	10: 127,484,521 (GRCm38)	Y523H	probably damaging	Het
Rpf1	T	A	3: 146,508,149 (GRCm38)	E231V	possibly damaging	Het
Slc16a10	C	T	10: 40,056,615 (GRCm38)	E317K	probably benign	Het
Slc34a1	A	T	13: 55,412,265 (GRCm38)	I435F	probably damaging	Het
Snx19	A	G	9: 30,433,387 (GRCm38)	D629G	probably damaging	Het
Tomm70a	T	C	16: 57,146,100 (GRCm38)	I472T	probably benign	Het
Trp53	A	G	11: 69,588,680 (GRCm38)	Y202C	probably damaging	Het
Ttc14	T	A	3: 33,809,254 (GRCm38)		probably benign	Het
Ugt1a1	C	T	1: 88,212,555 (GRCm38)	A185V	possibly damaging	Het
Usp28	A	G	9: 49,028,278 (GRCm38)	D655G	probably damaging	Het
Vmn1r215	C	T	13: 23,076,084 (GRCm38)	T98I	probably damaging	Het
Vmn2r121	G	T	X: 124,132,182 (GRCm38)	T426N	probably benign	Het
Vmn2r99	A	G	17: 19,394,573 (GRCm38)	N852D	probably benign	Het
Xrn2	T	A	2: 147,047,660 (GRCm38)	D654E	probably damaging	Het
Zfp335	C	G	2: 164,896,145 (GRCm38)	A849P	possibly damaging	Het
Zmynd15	A	G	11: 70,464,226 (GRCm38)	T350A	probably damaging	Het

Other mutations in Zfp954

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Zfp954	APN	7	7,115,367 (GRCm38)	missense	probably benign	0.01
IGL01696:Zfp954	APN	7	7,115,398 (GRCm38)	missense	probably damaging	1.00
R1723:Zfp954	UTSW	7	7,115,838 (GRCm38)	missense	probably benign	0.04
R2112:Zfp954	UTSW	7	7,115,610 (GRCm38)	missense	probably damaging	1.00
R2255:Zfp954	UTSW	7	7,115,322 (GRCm38)	missense	possibly damaging	0.84
R2410:Zfp954	UTSW	7	7,117,809 (GRCm38)	missense	probably benign	0.03
R5118:Zfp954	UTSW	7	7,115,715 (GRCm38)	missense	probably benign	0.05
R5191:Zfp954	UTSW	7	7,116,023 (GRCm38)	missense	probably damaging	0.96
R5832:Zfp954	UTSW	7	7,115,390 (GRCm38)	missense	probably damaging	0.97
R5851:Zfp954	UTSW	7	7,115,625 (GRCm38)	nonsense	probably null
R7633:Zfp954	UTSW	7	7,115,824 (GRCm38)	missense	possibly damaging	0.72
R7646:Zfp954	UTSW	7	7,115,721 (GRCm38)	missense	possibly damaging	0.65
R7710:Zfp954	UTSW	7	7,117,890 (GRCm38)	missense	probably damaging	1.00
R8079:Zfp954	UTSW	7	7,115,471 (GRCm38)	missense	probably benign	0.02
R9054:Zfp954	UTSW	7	7,116,098 (GRCm38)	missense	probably benign	0.15
R9192:Zfp954	UTSW	7	7,115,934 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGATGCCCACGCTTGCTTTG -3'
(R):5'- GTATATCCCACCTCAATCGGCACTG -3'

Sequencing Primer
(F):5'- GAAGCGTTAGACACTTCTTTTTTC -3'
(R):5'- gcagtgagtgtggcaaag -3'

Posted On

2013-04-16