Mutagenetix > Incidental Mutations

Incidental Mutation 'R6420:Zfp846'

518153

Institutional Source

Beutler Lab

Gene Symbol

Zfp846

Ensembl Gene

ENSMUSG00000058192

Gene Name

zinc finger protein 846

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R6420 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20581291-20605409 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20593711 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 289 (L289P)

Ref Sequence

ENSEMBL: ENSMUSP00000111219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060063] [ENSMUST00000115557] [ENSMUST00000140668]

Predicted Effect

probably damaging
Transcript: ENSMUST00000060063
AA Change: L289P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051593
Gene: ENSMUSG00000058192
AA Change: L289P

Domain	Start	End	E-Value	Type
KRAB	14	74	5.69e-28	SMART
ZnF_C2H2	113	137	1.02e1	SMART
ZnF_C2H2	162	184	8.6e-5	SMART
ZnF_C2H2	190	212	1.3e-4	SMART
ZnF_C2H2	218	240	1.12e-3	SMART
ZnF_C2H2	246	268	5.21e-4	SMART
ZnF_C2H2	274	297	9.58e-3	SMART
ZnF_C2H2	303	325	7.49e-5	SMART
ZnF_C2H2	331	354	2.95e-3	SMART
ZnF_C2H2	360	382	4.47e-3	SMART
ZnF_C2H2	388	410	4.11e-2	SMART
ZnF_C2H2	416	438	1.03e-2	SMART
ZnF_C2H2	444	466	5.21e-4	SMART
ZnF_C2H2	472	494	5.99e-4	SMART
ZnF_C2H2	500	522	1.72e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115557
AA Change: L289P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111219
Gene: ENSMUSG00000058192
AA Change: L289P

Domain	Start	End	E-Value	Type
KRAB	14	74	5.69e-28	SMART
ZnF_C2H2	113	137	1.02e1	SMART
ZnF_C2H2	162	184	8.6e-5	SMART
ZnF_C2H2	190	212	1.3e-4	SMART
ZnF_C2H2	218	240	1.12e-3	SMART
ZnF_C2H2	246	268	5.21e-4	SMART
ZnF_C2H2	274	297	9.58e-3	SMART
ZnF_C2H2	303	325	7.49e-5	SMART
ZnF_C2H2	331	354	2.95e-3	SMART
ZnF_C2H2	360	382	4.47e-3	SMART
ZnF_C2H2	388	410	4.11e-2	SMART
ZnF_C2H2	416	438	1.03e-2	SMART
ZnF_C2H2	444	466	5.21e-4	SMART
ZnF_C2H2	472	494	5.99e-4	SMART
ZnF_C2H2	500	522	1.72e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140668

SMART Domains

Protein: ENSMUSP00000115945
Gene: ENSMUSG00000058192

Domain	Start	End	E-Value	Type
KRAB	14	67	1.99e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217655

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,166,398	I117N	probably damaging	Het
Abca15	A	G	7: 120,397,128	K1426E	possibly damaging	Het
Arhgef17	A	G	7: 100,930,062	S560P	probably damaging	Het
Asb13	G	A	13: 3,643,574	V111I	probably damaging	Het
Dhx16	A	G	17: 35,883,014	E367G	possibly damaging	Het
Epc2	T	C	2: 49,451,900	V32A	probably damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Hdlbp	T	C	1: 93,431,004	E275G	probably damaging	Het
Kdm7a	T	C	6: 39,165,168	D392G	probably damaging	Het
Lgmn	T	A	12: 102,423,719	R4*	probably null	Het
Lrrk2	C	T	15: 91,812,346	R2446C	probably benign	Het
Map3k10	A	G	7: 27,663,284	F459S	probably damaging	Het
Mup1	C	G	4: 60,501,759	E31Q	possibly damaging	Het
Nckap1l	G	C	15: 103,491,466	G1025A	possibly damaging	Het
Olfr1085	A	T	2: 86,658,166	C97*	probably null	Het
Olfr1425	T	G	19: 12,073,960	K224T	probably benign	Het
Olfr1449	A	C	19: 12,935,220	T161P	probably damaging	Het
Olfr887	T	A	9: 38,085,594	S253T	probably benign	Het
Olfr890	T	G	9: 38,143,315	L55R	probably damaging	Het
Pik3r5	G	A	11: 68,475,424	W42*	probably null	Het
Pkd1l2	C	T	8: 117,013,899	C2153Y	probably damaging	Het
Rad1	T	C	15: 10,488,012	V74A	probably benign	Het
Scara3	C	T	14: 65,938,252	G22D	possibly damaging	Het
Scn1a	A	G	2: 66,273,198	I1906T	probably damaging	Het
Sema5b	T	A	16: 35,663,146	D1051E	probably benign	Het
Slc16a12	T	C	19: 34,672,697		probably null	Het
Slc25a23	T	C	17: 57,052,780	I324V	probably damaging	Het
Sord	A	T	2: 122,264,121	K330M	possibly damaging	Het
Spag9	T	C	11: 94,086,302	V78A	probably damaging	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Tnrc6a	A	G	7: 123,171,074	T696A	probably benign	Het
Ttn	A	G	2: 76,712,275	Y33456H	possibly damaging	Het
Unc45a	C	G	7: 80,339,652	E23Q	probably benign	Het
Urb2	C	T	8: 124,047,199	R1490W	probably damaging	Het
Zfp62	A	T	11: 49,216,513	N477I	probably damaging	Het
Zfp959	G	A	17: 55,898,094	G377D	probably damaging	Het
Zswim3	G	A	2: 164,820,733	V378M	probably damaging	Het

Other mutations in Zfp846

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02216:Zfp846	APN	9	20588609	missense	probably damaging	1.00
IGL02440:Zfp846	APN	9	20588500	splice site	probably benign
R0077:Zfp846	UTSW	9	20594007	missense	probably benign	0.00
R0528:Zfp846	UTSW	9	20587928	splice site	probably benign
R0675:Zfp846	UTSW	9	20593557	missense	probably benign
R1116:Zfp846	UTSW	9	20593263	missense	possibly damaging	0.96
R1439:Zfp846	UTSW	9	20594097	missense	possibly damaging	0.83
R3803:Zfp846	UTSW	9	20594439	missense	probably benign
R4586:Zfp846	UTSW	9	20593513	missense	probably damaging	0.96
R4872:Zfp846	UTSW	9	20590815	missense	probably benign
R6221:Zfp846	UTSW	9	20593295	missense	possibly damaging	0.53
R6416:Zfp846	UTSW	9	20593720	missense	possibly damaging	0.93
R6526:Zfp846	UTSW	9	20593871	missense	probably benign	0.23
R7003:Zfp846	UTSW	9	20587892	start codon destroyed	probably null	0.99
R7332:Zfp846	UTSW	9	20594225	missense	probably benign	0.00
R7651:Zfp846	UTSW	9	20588512	missense	possibly damaging	0.86
R8254:Zfp846	UTSW	9	20593291	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTTCAAATCTCAATAGACACCTGC -3'
(R):5'- AGGCATCTCTCCACTGTGTG -3'

Sequencing Primer
(F):5'- TGTGGGAAAGCCTTCACTAC -3'
(R):5'- CTCCACTGTGTGTTTTTCTTATATGG -3'

Posted On

2018-05-24