Mutagenetix > Incidental Mutation

Incidental Mutation 'R8997:Zfp846'

684776

Institutional Source

Beutler Lab

Gene Symbol

Zfp846

Ensembl Gene

ENSMUSG00000058192

Gene Name

zinc finger protein 846

Synonyms

2210010B09Rik

MMRRC Submission

068828-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R8997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20492595-20516706 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20505726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 529 (V529I)

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: V529I

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000051593
Gene: ENSMUSG00000058192
AA Change: V529I

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: V529I

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111219
Gene: ENSMUSG00000058192
AA Change: V529I

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: 99.3%
20x: 98.1%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	T	1: 11,615,491 (GRCm39)	E155*	probably null	Het
Abhd17a	T	C	10: 80,422,470 (GRCm39)	T71A	probably benign	Het
Adgrv1	GTT	GT	13: 81,553,457 (GRCm39)		probably null	Het
Adra2a	T	C	19: 54,035,729 (GRCm39)	S362P	probably benign	Het
Arid1a	T	A	4: 133,421,343 (GRCm39)	N436Y	unknown	Het
Cma2	T	A	14: 56,210,201 (GRCm39)	C85S	probably benign	Het
Cntn1	G	A	15: 92,132,347 (GRCm39)	V148M	probably damaging	Het
Cntn3	A	G	6: 102,181,023 (GRCm39)	V724A	probably damaging	Het
Dennd1a	C	T	2: 37,690,497 (GRCm39)	G868R	probably benign	Het
Disp2	C	T	2: 118,617,467 (GRCm39)	P154S	probably damaging	Het
Dlgap1	A	G	17: 70,823,528 (GRCm39)	D171G	possibly damaging	Het
Dpp4	A	C	2: 62,164,958 (GRCm39)	I697S	probably damaging	Het
Dync2h1	A	T	9: 7,129,003 (GRCm39)	D1837E	probably benign	Het
Fbxo39	T	A	11: 72,208,466 (GRCm39)	S273T	probably damaging	Het
Fgf5	A	T	5: 98,423,411 (GRCm39)	*265C	probably null	Het
Fscb	A	G	12: 64,520,758 (GRCm39)	V236A	possibly damaging	Het
Greb1l	A	T	18: 10,510,747 (GRCm39)	T614S	probably damaging	Het
Gtdc1	A	T	2: 44,715,386 (GRCm39)	N52K	probably benign	Het
Il6ra	T	C	3: 89,794,418 (GRCm39)	D181G	probably damaging	Het
Inhba	T	G	13: 16,201,107 (GRCm39)	V223G	possibly damaging	Het
Kcnma1	T	C	14: 23,513,037 (GRCm39)		probably benign	Het
Kdm2b	C	A	5: 123,018,236 (GRCm39)	W1068L	probably null	Het
Mdn1	T	C	4: 32,773,275 (GRCm39)	L5485P	probably damaging	Het
Muc16	T	C	9: 18,518,763 (GRCm39)		probably benign	Het
Ncapd3	T	C	9: 26,959,577 (GRCm39)	F338L	probably damaging	Het
Negr1	T	A	3: 156,721,918 (GRCm39)	I164N	probably damaging	Het
Nek9	A	T	12: 85,367,565 (GRCm39)	C369S	probably benign	Het
Ninl	C	T	2: 150,801,816 (GRCm39)	E151K	probably damaging	Het
Nphp1	A	T	2: 127,595,982 (GRCm39)	S494R	possibly damaging	Het
Nphp4	G	A	4: 152,623,345 (GRCm39)	R673H	probably damaging	Het
Obscn	C	T	11: 58,934,629 (GRCm39)		probably benign	Het
Osbpl8	T	C	10: 111,091,575 (GRCm39)	S82P	probably benign	Het
Pcdhgb1	C	A	18: 37,814,133 (GRCm39)	P208Q	probably damaging	Het
Pik3c2b	A	G	1: 133,018,517 (GRCm39)	E988G	possibly damaging	Het
Rfc1	A	T	5: 65,433,064 (GRCm39)	M722K	probably damaging	Het
Rnf111	A	T	9: 70,383,545 (GRCm39)	N129K	probably damaging	Het
Sdccag8	C	A	1: 176,783,374 (GRCm39)	L628I	probably damaging	Het
Sgcz	G	T	8: 39,127,894 (GRCm39)	D8E	probably benign	Het
Sgip1	T	A	4: 102,790,781 (GRCm39)	F254L		Het
Shf	A	G	2: 122,187,728 (GRCm39)	L26P	probably damaging	Het
Slc39a5	G	A	10: 128,232,348 (GRCm39)	A484V	probably damaging	Het
Slco4c1	T	A	1: 96,795,672 (GRCm39)	I129F	probably damaging	Het
Tbck	A	T	3: 132,440,106 (GRCm39)		probably null	Het
Tcstv7b	A	T	13: 120,702,515 (GRCm39)	M104L	probably benign	Het
Teddm3	A	T	16: 20,971,687 (GRCm39)	V294E	probably damaging	Het
Tent4b	T	A	8: 88,979,023 (GRCm39)	V508D	probably benign	Het
Treml1	A	T	17: 48,667,466 (GRCm39)	H117L	probably damaging	Het
Trip12	G	T	1: 84,771,596 (GRCm39)	T184N	probably benign	Het
Tuba3b	G	T	6: 145,566,954 (GRCm39)	M398I	possibly damaging	Het
Vcam1	T	C	3: 115,910,977 (GRCm39)	I474V	probably benign	Het
Wdsub1	A	C	2: 59,688,977 (GRCm39)	M415R	probably damaging	Het
Zfp14	A	T	7: 29,737,600 (GRCm39)	F462I	probably damaging	Het
Zfp873	A	G	10: 81,896,990 (GRCm39)	T574A	probably benign	Het

Other mutations in Zfp846

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02216:Zfp846	APN	9	20,499,905 (GRCm39)	missense	probably damaging	1.00
IGL02440:Zfp846	APN	9	20,499,796 (GRCm39)	splice site	probably benign
R0077:Zfp846	UTSW	9	20,505,303 (GRCm39)	missense	probably benign	0.00
R0528:Zfp846	UTSW	9	20,499,224 (GRCm39)	splice site	probably benign
R0675:Zfp846	UTSW	9	20,504,853 (GRCm39)	missense	probably benign
R1116:Zfp846	UTSW	9	20,504,559 (GRCm39)	missense	possibly damaging	0.96
R1439:Zfp846	UTSW	9	20,505,393 (GRCm39)	missense	possibly damaging	0.83
R3803:Zfp846	UTSW	9	20,505,735 (GRCm39)	missense	probably benign
R4586:Zfp846	UTSW	9	20,504,809 (GRCm39)	missense	probably damaging	0.96
R4872:Zfp846	UTSW	9	20,502,111 (GRCm39)	missense	probably benign
R6221:Zfp846	UTSW	9	20,504,591 (GRCm39)	missense	possibly damaging	0.53
R6416:Zfp846	UTSW	9	20,505,016 (GRCm39)	missense	possibly damaging	0.93
R6420:Zfp846	UTSW	9	20,505,007 (GRCm39)	missense	probably damaging	1.00
R6526:Zfp846	UTSW	9	20,505,167 (GRCm39)	missense	probably benign	0.23
R7003:Zfp846	UTSW	9	20,499,188 (GRCm39)	start codon destroyed	probably null	0.99
R7332:Zfp846	UTSW	9	20,505,521 (GRCm39)	missense	probably benign	0.00
R7651:Zfp846	UTSW	9	20,499,808 (GRCm39)	missense	possibly damaging	0.86
R8254:Zfp846	UTSW	9	20,504,587 (GRCm39)	missense	probably benign
R8724:Zfp846	UTSW	9	20,505,352 (GRCm39)	missense	possibly damaging	0.88
R9045:Zfp846	UTSW	9	20,505,189 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACCTTATAAGTGTAAGTACTGTGGG -3'
(R):5'- CTTAGGAAGTAGTGAGGGCCAC -3'

Sequencing Primer
(F):5'- CTGTGGGAAAGATTTCACTACTTCC -3'
(R):5'- GAGGGCCACTTCCTGATTATG -3'

Posted On

2021-10-11