Mutagenetix > Incidental Mutation

Incidental Mutation 'R5054:Zfp985'

458156

Institutional Source

Beutler Lab

Gene Symbol

Zfp985

Ensembl Gene

ENSMUSG00000065999

Gene Name

zinc finger protein 985

Synonyms

Gm13154

MMRRC Submission

042644-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.484) question?

Stock #

R5054 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

147553277-147585198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 147582981 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 102 (Y102F)

Ref Sequence

ENSEMBL: ENSMUSP00000123296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081742] [ENSMUST00000139784] [ENSMUST00000143885]

AlphaFold

A2A7A5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081742
AA Change: Y102F

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080438
Gene: ENSMUSG00000065999
AA Change: Y102F

Domain	Start	End	E-Value	Type
KRAB	13	72	4.36e-15	SMART
ZnF_C2H2	238	260	8.34e-3	SMART
ZnF_C2H2	266	288	1.47e-3	SMART
ZnF_C2H2	294	316	2.36e-2	SMART
ZnF_C2H2	322	344	8.34e-3	SMART
ZnF_C2H2	350	372	7.67e-2	SMART
ZnF_C2H2	378	400	8.6e-5	SMART
ZnF_C2H2	406	428	8.6e-5	SMART
ZnF_C2H2	434	456	7.9e-4	SMART
ZnF_C2H2	462	484	1.95e-3	SMART
ZnF_C2H2	490	512	2.09e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000139784
AA Change: Y102F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123296
Gene: ENSMUSG00000065999
AA Change: Y102F

Domain	Start	End	E-Value	Type
KRAB	13	72	4.36e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143885

SMART Domains

Protein: ENSMUSP00000121177
Gene: ENSMUSG00000065999

Domain	Start	End	E-Value	Type
KRAB	13	72	4.36e-15	SMART

Meta Mutation Damage Score

0.2193

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

94% (67/71)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,689,501	Y257H	probably damaging	Het
Adam28	C	T	14: 68,617,715	C659Y	probably damaging	Het
Adamtsl2	G	A	2: 27,101,720	E627K	probably damaging	Het
Atad5	T	A	11: 80,094,676	S196R	probably benign	Het
Bcam	T	A	7: 19,756,860		probably benign	Het
Birc6	A	G	17: 74,655,325	H3978R	probably damaging	Het
Btbd7	T	C	12: 102,838,212	I190V	probably benign	Het
Ccdc8	T	C	7: 16,995,045	V153A	probably damaging	Het
Cyp2a5	C	G	7: 26,841,104	R68G	probably damaging	Het
Dock3	T	C	9: 106,937,906	Y1254C	probably damaging	Het
Dync2h1	T	C	9: 7,085,007	E2794G	possibly damaging	Het
Dytn	C	A	1: 63,661,159	V271L	possibly damaging	Het
Eif2s2	A	C	2: 154,892,670		probably null	Het
Fndc7	A	G	3: 108,881,347	S193P	probably damaging	Het
Fzr1	G	A	10: 81,371,419		probably benign	Het
Gm17472	T	C	6: 42,981,004	I69T	probably damaging	Het
Gm5039	T	C	12: 88,321,301	I61V	probably benign	Het
Gmppa	C	A	1: 75,439,371	Y137*	probably null	Het
Gpr45	A	G	1: 43,032,649	I151V	probably benign	Het
H1f0	G	A	15: 79,028,773	A18T	probably damaging	Het
Hbb-bh1	C	T	7: 103,841,856	V114I	probably benign	Het
Impa2	C	A	18: 67,306,727	P98Q	probably damaging	Het
Kazn	T	C	4: 142,108,646	N573D	unknown	Het
Kcna2	A	T	3: 107,104,340	D79V	probably damaging	Het
Kcna7	G	A	7: 45,406,591	R77H	probably damaging	Het
Kif13a	A	G	13: 46,802,646	Y561H	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klra1	T	A	6: 130,375,284	Q165L	probably damaging	Het
Mat2b	T	A	11: 40,680,042	R318S	probably damaging	Het
Mgat4d	G	A	8: 83,368,208		probably null	Het
Mtor	T	A	4: 148,556,855		probably null	Het
Nostrin	A	T	2: 69,175,713	Q247L	possibly damaging	Het
Obscn	T	C	11: 59,073,617	E3033G	probably damaging	Het
Pam	C	A	1: 97,821,917	D839Y	probably damaging	Het
Pds5a	A	G	5: 65,637,814	V693A	probably damaging	Het
Pigo	A	T	4: 43,021,337	L535Q	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Ptar1	G	T	19: 23,694,365	R44L	probably damaging	Het
Rad51c	T	C	11: 87,397,754	H201R	probably benign	Het
Rims2	A	T	15: 39,517,869		probably null	Het
Rnf219	C	T	14: 104,508,030	G70E	probably damaging	Het
Rpl22l1	T	G	3: 28,806,836	S67A	possibly damaging	Het
Rps10	A	G	17: 27,630,480	S143P	probably damaging	Het
Rundc1	T	C	11: 101,425,141	V13A	probably benign	Het
Sephs2	C	A	7: 127,273,392	M176I	probably benign	Het
Serpina16	C	T	12: 103,674,930	V179I	probably benign	Het
Serpini2	T	A	3: 75,259,477	T158S	probably damaging	Het
Slc12a3	A	G	8: 94,346,351	R701G	probably damaging	Het
Slc1a6	A	G	10: 78,814,602	E558G	probably damaging	Het
Ssx2ip	T	C	3: 146,430,917		probably benign	Het
Tbr1	A	T	2: 61,806,002	I241F	possibly damaging	Het
Tgfa	G	C	6: 86,270,082		probably null	Het
Tlr12	T	A	4: 128,617,270	K396*	probably null	Het
Tmppe	A	G	9: 114,405,958	I442V	probably benign	Het
Tubb3	T	C	8: 123,420,868	V180A	probably damaging	Het
Vmn1r222	A	G	13: 23,232,731	V104A	probably damaging	Het
Vmn2r95	G	T	17: 18,451,446	V482L	possibly damaging	Het
Zfp184	G	T	13: 21,959,282	R386L	possibly damaging	Het
Zfp444	T	A	7: 6,189,793	V270E	probably damaging	Het

Other mutations in Zfp985

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0098:Zfp985	UTSW	4	147577109	missense	probably damaging	0.97
R0324:Zfp985	UTSW	4	147582857	missense	probably benign	0.00
R1307:Zfp985	UTSW	4	147583247	missense	probably benign
R1594:Zfp985	UTSW	4	147583080	missense	probably benign	0.05
R1657:Zfp985	UTSW	4	147584110	missense	probably benign	0.01
R1667:Zfp985	UTSW	4	147583950	missense	possibly damaging	0.84
R1761:Zfp985	UTSW	4	147584045	missense	probably benign	0.00
R1858:Zfp985	UTSW	4	147582858	missense	probably benign	0.29
R2509:Zfp985	UTSW	4	147582986	missense	possibly damaging	0.75
R2510:Zfp985	UTSW	4	147582986	missense	possibly damaging	0.75
R2847:Zfp985	UTSW	4	147583011	nonsense	probably null
R2848:Zfp985	UTSW	4	147583011	nonsense	probably null
R4245:Zfp985	UTSW	4	147582939	missense	probably damaging	0.96
R4260:Zfp985	UTSW	4	147583572	missense	probably damaging	1.00
R4434:Zfp985	UTSW	4	147583911	missense	probably benign	0.37
R4480:Zfp985	UTSW	4	147584079	missense	probably benign	0.07
R4512:Zfp985	UTSW	4	147583563	missense	probably damaging	1.00
R4514:Zfp985	UTSW	4	147583563	missense	probably damaging	1.00
R4528:Zfp985	UTSW	4	147582890	missense	possibly damaging	0.49
R4836:Zfp985	UTSW	4	147584155	missense	probably damaging	0.97
R4884:Zfp985	UTSW	4	147583344	missense	probably benign	0.04
R5106:Zfp985	UTSW	4	147584155	missense	probably damaging	0.97
R5205:Zfp985	UTSW	4	147582911	missense	probably damaging	1.00
R5266:Zfp985	UTSW	4	147582832	critical splice acceptor site	probably null
R5468:Zfp985	UTSW	4	147583245	missense	probably benign
R5533:Zfp985	UTSW	4	147582983	nonsense	probably null
R6282:Zfp985	UTSW	4	147583348	missense	probably benign	0.00
R6303:Zfp985	UTSW	4	147583775	missense	probably benign	0.01
R6609:Zfp985	UTSW	4	147583121	missense	probably benign
R6609:Zfp985	UTSW	4	147583667	missense	probably damaging	1.00
R6722:Zfp985	UTSW	4	147583071	missense	probably benign	0.26
R6858:Zfp985	UTSW	4	147583307	nonsense	probably null
R7064:Zfp985	UTSW	4	147583116	missense	probably benign	0.20
R7216:Zfp985	UTSW	4	147583456	missense	probably damaging	1.00
R7471:Zfp985	UTSW	4	147582931	missense	possibly damaging	0.75
R7583:Zfp985	UTSW	4	147583489	nonsense	probably null
R7685:Zfp985	UTSW	4	147582874	missense	probably benign	0.00
R8242:Zfp985	UTSW	4	147584182	missense	possibly damaging	0.52
R8504:Zfp985	UTSW	4	147583426	missense	possibly damaging	0.70
R8780:Zfp985	UTSW	4	147583955	missense	possibly damaging	0.79
R8785:Zfp985	UTSW	4	147583623	missense	probably damaging	1.00
R9485:Zfp985	UTSW	4	147583823	missense	probably damaging	1.00
R9513:Zfp985	UTSW	4	147583542	missense	probably damaging	1.00
R9631:Zfp985	UTSW	4	147581285	missense	probably damaging	1.00
R9722:Zfp985	UTSW	4	147583161	missense	possibly damaging	0.63
R9786:Zfp985	UTSW	4	147583590	missense	probably benign
X0050:Zfp985	UTSW	4	147583271	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CATAAGCTCACTGATTATTGAGTCCC -3'
(R):5'- CAAATTCTGCATTTCGCTTGTG -3'

Sequencing Primer
(F):5'- GTAATTCATGTCATCTCTAATTGCCC -3'
(R):5'- CTTCTGCATGTGGATTCC -3'

Posted On

2017-02-17