Mutagenetix > Incidental Mutations

Incidental Mutation 'R8254:Zfp846'

640655

Institutional Source

Beutler Lab

Gene Symbol

Zfp846

Ensembl Gene

ENSMUSG00000058192

Gene Name

zinc finger protein 846

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) 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

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]

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

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