Mutagenetix > Incidental Mutation

Incidental Mutation 'R8254:Zfp846'

640655

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: 0.072) question?

Stock #

R8254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20581291-20605409 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20593291 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 149 (D149G)

Ref Sequence

ENSEMBL: ENSMUSP00000111219 (fasta)

Gene Model

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

AlphaFold

G3X996

Predicted Effect

probably benign
Transcript: ENSMUST00000060063
AA Change: D149G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000051593
Gene: ENSMUSG00000058192
AA Change: D149G

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: ENSMUST00000115557
AA Change: D149G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111219
Gene: ENSMUSG00000058192
AA Change: D149G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	C	7: 28,147,349	V1119A	possibly damaging	Het
Aadacl3	T	C	4: 144,456,190	Y236C	probably benign	Het
Arhgef2	T	C	3: 88,642,603	L655P	probably damaging	Het
Brsk2	T	C	7: 141,984,416	S100P	probably damaging	Het
Calb1	A	G	4: 15,898,926	T141A	probably benign	Het
Cog6	T	C	3: 52,993,517	T447A	probably benign	Het
Cyp4f13	A	T	17: 32,929,933	N279K	probably benign	Het
Dnah11	T	C	12: 117,878,524	D4440G	possibly damaging	Het
Dspp	A	T	5: 104,175,328	E112D	possibly damaging	Het
Fam3c	T	A	6: 22,328,676	T71S	possibly damaging	Het
Fdxr	C	A	11: 115,271,318	G188W	probably damaging	Het
Fndc5	T	C	4: 129,138,721	V39A	possibly damaging	Het
Gm14226	T	C	2: 155,024,726	I201T	possibly damaging	Het
Gm853	C	A	4: 130,220,343	A94S	probably benign	Het
Grip1	C	T	10: 120,054,905	Q950*	probably null	Het
Gsg2	A	T	11: 73,136,746	Y506N	probably benign	Het
Itga2b	C	A	11: 102,467,386	R171L	probably benign	Het
Kctd2	C	T	11: 115,420,348	P61S	unknown	Het
Kirrel2	A	G	7: 30,450,376		probably null	Het
Lmx1b	A	G	2: 33,565,114	F310S		Het
Map4k4	A	T	1: 40,006,675	I574F	probably damaging	Het
Nrip1	T	C	16: 76,291,399	K1090R	probably benign	Het
Ntrk3	T	C	7: 78,192,578	Y820C	probably damaging	Het
Olfr1446	T	C	19: 12,890,485	T31A	probably benign	Het
Olfr209	T	A	16: 59,362,171	I16L	probably benign	Het
Pcdhb11	T	C	18: 37,422,189	Y191H	probably benign	Het
Pgm5	T	C	19: 24,727,725	K475E	probably benign	Het
Pi16	C	A	17: 29,319,234	P7Q	possibly damaging	Het
Psd4	A	T	2: 24,403,211	D696V	probably damaging	Het
Rere	T	C	4: 150,612,672	F556L	unknown	Het
Sema4f	A	T	6: 82,917,401	C528S	probably damaging	Het
Sorcs2	A	G	5: 36,038,206	S680P	probably benign	Het
Sv2c	T	C	13: 96,088,565	T79A	probably damaging	Het
Tarsl2	A	G	7: 65,676,061	N461S	probably benign	Het
Thada	T	C	17: 84,226,040	N1661S	probably benign	Het
Tubd1	A	T	11: 86,549,438	Q96L	probably damaging	Het
Vmn2r72	T	C	7: 85,751,019	D274G	probably damaging	Het
Vps13d	A	T	4: 144,983,312		probably benign	Het
Vwce	C	A	19: 10,650,574	S466Y	probably damaging	Het
Wdr11	T	C	7: 129,634,836	I1178T	probably benign	Het
Zfp568	A	T	7: 30,015,133	H145L	probably benign	Het
Zfp606	T	C	7: 12,492,861	I303T	possibly 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
R6420:Zfp846	UTSW	9	20593711	missense	probably damaging	1.00
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
R8724:Zfp846	UTSW	9	20594056	missense	possibly damaging	0.88
R8997:Zfp846	UTSW	9	20594430	missense	probably benign	0.41
R9045:Zfp846	UTSW	9	20593893	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GTCCTGCTTATAGTCAAAATGGC -3'
(R):5'- ATATGCTGACTAAGGCGTGG -3'

Sequencing Primer
(F):5'- CTGCTTATAGTCAAAATGGCAAAATC -3'
(R):5'- AGTTATAAGGCCTGACCGCTTAGC -3'

Posted On

2020-07-28