Mutagenetix > Incidental Mutation

Incidental Mutation 'R2474:Zfp746'

253267

Institutional Source

Beutler Lab

Gene Symbol

Zfp746

Ensembl Gene

ENSMUSG00000057691

Gene Name

zinc finger protein 746

Synonyms

2810407L07Rik

MMRRC Submission

040405-MU

Accession Numbers

Essential gene?

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

Stock #

R2474 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48039329-48063527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48041703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 341 (D341G)

Ref Sequence

ENSEMBL: ENSMUSP00000072868 (fasta)

Gene Model

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

AlphaFold

Q3U133

Predicted Effect

probably damaging
Transcript: ENSMUST00000073124
AA Change: D341G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072868
Gene: ENSMUSG00000057691
AA Change: D341G

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

unknown
Transcript: ENSMUST00000203033
AA Change: D124G

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203609
AA Change: D340G

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145506
Gene: ENSMUSG00000057691
AA Change: D340G

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

0.0589

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	G	3: 151,248,361 (GRCm39)	T678A	probably benign	Het
Asb7	A	T	7: 66,328,901 (GRCm39)	N46K	probably damaging	Het
Atxn7l2	A	C	3: 108,111,293 (GRCm39)	S414R	probably damaging	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Cxcl13	C	T	5: 96,107,816 (GRCm39)	Q91*	probably null	Het
Dchs1	T	C	7: 105,404,281 (GRCm39)	N2754D	probably benign	Het
Dchs1	A	T	7: 105,422,045 (GRCm39)	V125E	probably damaging	Het
Enpep	G	C	3: 129,077,807 (GRCm39)	S603R	possibly damaging	Het
Greb1	T	C	12: 16,764,954 (GRCm39)	N393S	possibly damaging	Het
Hfm1	A	T	5: 107,020,282 (GRCm39)	V1048D	possibly damaging	Het
Ilvbl	T	C	10: 78,412,558 (GRCm39)	V93A	probably damaging	Het
Itpkb	A	G	1: 180,161,716 (GRCm39)	D614G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lgi3	G	A	14: 70,770,689 (GRCm39)		probably null	Het
Mpeg1	G	A	19: 12,439,613 (GRCm39)	C357Y	probably damaging	Het
Nedd1	A	G	10: 92,555,465 (GRCm39)	F7L	probably damaging	Het
Or8g26	A	G	9: 39,095,846 (GRCm39)	D121G	probably damaging	Het
Or8k35	C	A	2: 86,424,957 (GRCm39)	V72F	probably benign	Het
Parp8	A	T	13: 117,029,577 (GRCm39)	C510S	possibly damaging	Het
Phb1	T	C	11: 95,562,248 (GRCm39)	F42L	possibly damaging	Het
Pik3r1	A	T	13: 101,839,284 (GRCm39)	Y189*	probably null	Het
Rps5	T	A	7: 12,660,488 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Senp3	T	A	11: 69,564,923 (GRCm39)	N516Y	probably damaging	Het
Tfap2b	A	T	1: 19,284,599 (GRCm39)	H169L	possibly damaging	Het
Tmem260	A	G	14: 48,733,781 (GRCm39)	D226G	probably null	Het
Ttc6	G	T	12: 57,622,713 (GRCm39)	R37S	probably benign	Het
Vmn2r84	A	T	10: 130,222,392 (GRCm39)	D609E	possibly damaging	Het
Vmn2r99	A	T	17: 19,598,891 (GRCm39)	M192L	probably benign	Het
Zfp941	A	T	7: 140,391,384 (GRCm39)	H658Q	probably damaging	Het
Zw10	T	A	9: 48,978,105 (GRCm39)	I351N	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
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
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'- CCGTTGTCTGGAGATGAGAAAG -3'
(R):5'- GTCCAGAATGATCTCTGCCC -3'

Sequencing Primer
(F):5'- TTGTCTGGAGATGAGAAAGGGAGC -3'
(R):5'- CAGAATGATCTCTGCCCTACTC -3'

Posted On

2014-12-04