Mutagenetix > Incidental Mutations

Incidental Mutation 'R5118:Zfp954'

392737

Institutional Source

Beutler Lab

Gene Symbol

Zfp954

Ensembl Gene

ENSMUSG00000062116

Gene Name

zinc finger protein 954

Synonyms

5730403M16Rik

MMRRC Submission

042706-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R5118 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7114690-7121488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7115715 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 277 (T277S)

Ref Sequence

ENSEMBL: ENSMUSP00000072585 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000056246
AA Change: T277S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000072585
Gene: ENSMUSG00000062116
AA Change: T277S

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

Meta Mutation Damage Score

0.2721

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Adamts2	A	G	11: 50,781,869	E648G	probably damaging	Het
Ankrd55	A	G	13: 112,355,939	S187G	probably benign	Het
BC080695	T	C	4: 143,571,127	L39P	probably damaging	Het
C87414	T	A	5: 93,637,797	D208V	probably benign	Het
Cd44	C	A	2: 102,865,370	E52D	probably damaging	Het
Col6a5	T	A	9: 105,937,005	I603F	unknown	Het
Dmxl2	C	A	9: 54,460,987	R233L	probably damaging	Het
Dopey1	T	C	9: 86,506,259	F429L	probably damaging	Het
Epsti1	T	G	14: 77,986,682		probably null	Het
Erfe	G	T	1: 91,370,716		probably null	Het
Galnt5	A	G	2: 58,015,003	D526G	probably damaging	Het
Gm1330	T	C	2: 149,002,986		probably benign	Het
Gm6181	G	A	7: 52,755,616		noncoding transcript	Het
Irak2	T	A	6: 113,665,811	V68D	probably benign	Het
Kdm1a	A	G	4: 136,557,358		probably benign	Het
Kidins220	C	A	12: 24,992,297	Q198K	probably damaging	Het
Lgr5	A	G	10: 115,452,339	V728A	possibly damaging	Het
Micall2	G	A	5: 139,716,447	T347M	probably damaging	Het
Mrap2	T	C	9: 87,182,703	F166L	possibly damaging	Het
Msh3	A	T	13: 92,309,434		probably benign	Het
Mul1	T	A	4: 138,439,349	L238Q	probably damaging	Het
Nuak1	G	T	10: 84,374,984	H413Q	probably benign	Het
Olfr1408	T	C	1: 173,130,917	Q100R	possibly damaging	Het
Pcnt	C	T	10: 76,412,168	A931T	probably damaging	Het
Pddc1	A	T	7: 141,406,806		probably benign	Het
Psmb4	T	C	3: 94,884,942	Y223C	probably damaging	Het
Rbm15b	G	T	9: 106,886,102	A289E	possibly damaging	Het
Reg3b	T	A	6: 78,372,128	V79E	probably damaging	Het
Rsl1	A	G	13: 67,181,981	I164M	probably damaging	Het
Rtp1	T	C	16: 23,431,535	F217L	probably benign	Het
Sfmbt1	T	C	14: 30,790,770	L360P	probably damaging	Het
Sorbs2	T	C	8: 45,795,785	V611A	probably damaging	Het
Tenm4	T	A	7: 96,893,086	D1935E	probably damaging	Het
Tep1	T	C	14: 50,855,587		probably null	Het
Tmppe	T	G	9: 114,405,481	S283A	probably benign	Het
Tmtc1	A	G	6: 148,269,987		probably benign	Het
Trp63	T	C	16: 25,889,010	I552T	unknown	Het
Tspan2	C	A	3: 102,749,835	D45E	probably benign	Het
Ubr1	T	C	2: 120,882,264	E1396G	probably benign	Het
Usp17lc	A	T	7: 103,418,661	T388S	probably benign	Het
Wdr46	T	C	17: 33,948,837	V508A	possibly damaging	Het
Zcchc11	T	A	4: 108,520,292	D966E	possibly damaging	Het
Zfp462	T	A	4: 55,010,667	Y878N	probably damaging	Het
Zfp703	C	T	8: 26,979,205	P299L	probably damaging	Het

Other mutations in Zfp954

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Zfp954	APN	7	7115367	missense	probably benign	0.01
IGL01696:Zfp954	APN	7	7115398	missense	probably damaging	1.00
R0196:Zfp954	UTSW	7	7115391	missense	probably damaging	1.00
R1723:Zfp954	UTSW	7	7115838	missense	probably benign	0.04
R2112:Zfp954	UTSW	7	7115610	missense	probably damaging	1.00
R2255:Zfp954	UTSW	7	7115322	missense	possibly damaging	0.84
R2410:Zfp954	UTSW	7	7117809	missense	probably benign	0.03
R5191:Zfp954	UTSW	7	7116023	missense	probably damaging	0.96
R5832:Zfp954	UTSW	7	7115390	missense	probably damaging	0.97
R5851:Zfp954	UTSW	7	7115625	nonsense	probably null
R7633:Zfp954	UTSW	7	7115824	missense	possibly damaging	0.72
R7646:Zfp954	UTSW	7	7115721	missense	possibly damaging	0.65
R7710:Zfp954	UTSW	7	7117890	missense	probably damaging	1.00
R8079:Zfp954	UTSW	7	7115471	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CTCGGAGTTCTGGGTGAAATAC -3'
(R):5'- GTATATCCCACCTCAATCGGC -3'

Sequencing Primer
(F):5'- GTTCTGGGTGAAATACATGCCAC -3'
(R):5'- TCGGCACTGGAAGATACACACTG -3'

Posted On

2016-06-15