Mutagenetix > Incidental Mutation

Incidental Mutation 'R0020:Zfp746'

201369

Institutional Source

Beutler Lab

Gene Symbol

Zfp746

Ensembl Gene

ENSMUSG00000057691

Gene Name

zinc finger protein 746

Synonyms

2810407L07Rik

MMRRC Submission

038315-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

R0020 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

48039329-48063527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 48041641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 362 (A362S)

Ref Sequence

ENSEMBL: ENSMUSP00000072868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073124] [ENSMUST00000203609]

AlphaFold

Q3U133

Predicted Effect

probably benign
Transcript: ENSMUST00000073124
AA Change: A362S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000072868
Gene: ENSMUSG00000057691
AA Change: A362S

Domain	Start	End	E-Value	Type
Pfam:DUF3669	11	81	3.4e-12	PFAM
KRAB	107	156	1.37e-12	SMART
low complexity region	168	183	N/A	INTRINSIC
low complexity region	190	206	N/A	INTRINSIC
ZnF_C2H2	454	474	3.65e1	SMART
low complexity region	481	511	N/A	INTRINSIC
ZnF_C2H2	517	539	1.92e-2	SMART
ZnF_C2H2	545	567	1.82e-3	SMART
ZnF_C2H2	573	595	1.72e-4	SMART
low complexity region	601	623	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203033

Predicted Effect

probably benign
Transcript: ENSMUST00000203609
AA Change: A361S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000145506
Gene: ENSMUSG00000057691
AA Change: A361S

Domain	Start	End	E-Value	Type
Pfam:DUF3669	11	81	4.6e-9	PFAM
KRAB	107	156	5.7e-15	SMART
low complexity region	168	183	N/A	INTRINSIC
low complexity region	190	206	N/A	INTRINSIC
ZnF_C2H2	453	473	1.6e-1	SMART
low complexity region	480	510	N/A	INTRINSIC
ZnF_C2H2	516	538	8e-5	SMART
ZnF_C2H2	544	566	7.8e-6	SMART
ZnF_C2H2	572	594	7.3e-7	SMART
low complexity region	600	622	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204771

Meta Mutation Damage Score

0.1531

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.4%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ado	T	C	10: 67,383,927 (GRCm39)	D226G	probably benign	Het
Agfg2	C	T	5: 137,652,064 (GRCm39)	V432M	probably benign	Het
Atf2	T	C	2: 73,676,628 (GRCm39)	D122G	possibly damaging	Het
Brd10	A	T	19: 29,693,597 (GRCm39)	D2032E	probably damaging	Het
Cd2bp2	G	A	7: 126,792,996 (GRCm39)	T342M	probably damaging	Het
Cip2a	A	T	16: 48,821,975 (GRCm39)	H201L	probably damaging	Het
Col6a3	T	A	1: 90,739,272 (GRCm39)	I319F	probably damaging	Het
Cst11	T	A	2: 148,613,253 (GRCm39)	Y24F	probably damaging	Het
Cstb	T	A	10: 78,263,170 (GRCm39)	V65E	probably benign	Het
Cyp2j11	G	A	4: 96,195,641 (GRCm39)	H352Y	probably benign	Het
D130043K22Rik	T	A	13: 25,038,475 (GRCm39)		probably benign	Het
Dbh	A	G	2: 27,060,584 (GRCm39)		probably benign	Het
Dhdh	T	C	7: 45,137,528 (GRCm39)	K53R	probably benign	Het
Drc3	A	G	11: 60,261,371 (GRCm39)	Y174C	probably damaging	Het
Ezr	G	T	17: 7,010,126 (GRCm39)	Q308K	probably damaging	Het
F3	A	T	3: 121,525,265 (GRCm39)	N169Y	probably damaging	Het
Fbn2	G	T	18: 58,238,236 (GRCm39)	T587K	probably damaging	Het
Fhl5	A	T	4: 25,200,054 (GRCm39)	V260E	probably benign	Het
Glyr1	A	G	16: 4,854,913 (GRCm39)	I55T	probably damaging	Het
Gm12695	G	C	4: 96,657,972 (GRCm39)	P66A	probably damaging	Het
Gon4l	G	T	3: 88,766,244 (GRCm39)	V428L	probably damaging	Het
Ighv6-5	T	C	12: 114,380,241 (GRCm39)	D92G	probably null	Het
Inhba	A	C	13: 16,200,949 (GRCm39)	K170N	possibly damaging	Het
Kng2	A	G	16: 22,816,046 (GRCm39)	V317A	probably benign	Het
Larp1	T	A	11: 57,940,849 (GRCm39)	D658E	probably damaging	Het
Map3k14	T	C	11: 103,118,500 (GRCm39)	E562G	probably damaging	Het
Megf10	G	T	18: 57,420,965 (GRCm39)	V868F	possibly damaging	Het
Nap1l1	A	C	10: 111,326,884 (GRCm39)	E148D	probably benign	Het
Nlrp4a	A	T	7: 26,149,797 (GRCm39)	H468L	probably damaging	Het
Nphs1	G	T	7: 30,162,633 (GRCm39)	V357L	probably benign	Het
Or10aa3	T	A	1: 173,878,413 (GRCm39)	V158E	probably damaging	Het
Pclo	A	G	5: 14,719,687 (GRCm39)	T1275A	unknown	Het
Pde4d	T	A	13: 110,091,104 (GRCm39)	C35S	possibly damaging	Het
Pkd1l1	A	G	11: 8,825,765 (GRCm39)		probably benign	Het
Pkd2	A	G	5: 104,651,382 (GRCm39)	E910G	probably damaging	Het
Pot1b	T	A	17: 55,960,429 (GRCm39)	M634L	probably benign	Het
Ppp2r5c	C	T	12: 110,541,257 (GRCm39)	Q469*	probably null	Het
Ppp6r2	T	A	15: 89,143,342 (GRCm39)	M163K	probably damaging	Het
Prss43	C	A	9: 110,657,580 (GRCm39)		probably benign	Het
Rb1cc1	C	A	1: 6,334,772 (GRCm39)	N1444K	possibly damaging	Het
Rimoc1	T	C	15: 4,021,350 (GRCm39)		probably benign	Het
Scube2	A	G	7: 109,430,095 (GRCm39)		probably benign	Het
Slamf9	T	C	1: 172,303,082 (GRCm39)	S7P	possibly damaging	Het
Slc35b2	T	A	17: 45,877,782 (GRCm39)	M303K	probably damaging	Het
Slc4a7	T	A	14: 14,796,108 (GRCm38)	F1116I	probably benign	Het
Slco1a8	A	T	6: 141,918,076 (GRCm39)	V600E	possibly damaging	Het
Smarcad1	T	A	6: 65,060,991 (GRCm39)		probably benign	Het
Tamalin	T	C	15: 101,128,433 (GRCm39)	V157A	probably damaging	Het
Tns3	A	C	11: 8,495,227 (GRCm39)		probably null	Het
Zfp282	T	G	6: 47,856,943 (GRCm39)	W59G	probably damaging	Het

Other mutations in Zfp746

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01993:Zfp746	APN	6	48,059,092 (GRCm39)	missense	probably damaging	0.99
R0020:Zfp746	UTSW	6	48,041,641 (GRCm39)	missense	probably benign	0.05
R0734:Zfp746	UTSW	6	48,041,833 (GRCm39)	missense	probably damaging	0.97
R1109:Zfp746	UTSW	6	48,041,856 (GRCm39)	missense	possibly damaging	0.94
R1656:Zfp746	UTSW	6	48,041,411 (GRCm39)	missense	probably damaging	0.99
R1657:Zfp746	UTSW	6	48,059,108 (GRCm39)	missense	possibly damaging	0.94
R2474:Zfp746	UTSW	6	48,041,703 (GRCm39)	missense	probably damaging	1.00
R4748:Zfp746	UTSW	6	48,041,490 (GRCm39)	missense	probably benign	0.05
R5168:Zfp746	UTSW	6	48,041,329 (GRCm39)	missense	possibly damaging	0.88
R5386:Zfp746	UTSW	6	48,041,110 (GRCm39)	missense	possibly damaging	0.94
R5446:Zfp746	UTSW	6	48,041,107 (GRCm39)	missense	probably damaging	0.97
R5560:Zfp746	UTSW	6	48,059,108 (GRCm39)	missense	possibly damaging	0.94
R7251:Zfp746	UTSW	6	48,041,811 (GRCm39)	missense	probably damaging	1.00
R7524:Zfp746	UTSW	6	48,041,823 (GRCm39)	missense	possibly damaging	0.95
R9502:Zfp746	UTSW	6	48,041,397 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCCAGGGTATTTGCAGGGATCATTG -3'
(R):5'- TGCCGAGTTTCCAGATGAAGGTG -3'

Sequencing Primer
(F):5'- ATTTGCAGGGATCATTGAAGGG -3'
(R):5'- AAGTGTCCAGAATGATCTCTGCC -3'

Posted On

2014-06-02