Mutagenetix > Incidental Mutations

Incidental Mutation 'R1426:Zfp786'

162245

Institutional Source

Beutler Lab

Gene Symbol

Zfp786

Ensembl Gene

ENSMUSG00000051499

Gene Name

zinc finger protein 786

Synonyms

A730012O14Rik

MMRRC Submission

039482-MU

Accession Numbers

Genbank: NM_177882; MGI: 3026883

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R1426 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

47819266-47830867 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47825079 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 88 (V88A)

Ref Sequence

ENSEMBL: ENSMUSP00000057495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058844]

Predicted Effect

probably benign
Transcript: ENSMUST00000058844
AA Change: V88A

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000057495
Gene: ENSMUSG00000051499
AA Change: V88A

Domain	Start	End	E-Value	Type
KRAB	9	69	2.6e-22	SMART
low complexity region	156	164	N/A	INTRINSIC
ZnF_C2H2	240	262	5.34e-1	SMART
ZnF_C2H2	268	295	1.41e2	SMART
ZnF_C2H2	420	440	1.21e2	SMART
ZnF_C2H2	448	470	3.52e-1	SMART
ZnF_C2H2	476	498	1.89e-1	SMART
ZnF_C2H2	504	526	1.69e-3	SMART
ZnF_C2H2	532	554	5.59e-4	SMART
ZnF_C2H2	560	582	4.79e-3	SMART
ZnF_C2H2	588	610	3.69e-4	SMART
ZnF_C2H2	616	638	3.63e-3	SMART
ZnF_C2H2	644	665	5.92e0	SMART
ZnF_C2H2	671	693	2.57e-3	SMART
ZnF_C2H2	699	721	1.38e-3	SMART
ZnF_C2H2	727	749	1.45e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143979

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204984

Meta Mutation Damage Score

0.0444

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.1%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,324,435	V214E	probably damaging	Het
Adh1	A	G	3: 138,286,795	D224G	probably damaging	Het
Arhgap28	C	A	17: 67,857,464	Q554H	probably damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Brat1	G	A	5: 140,718,013	V674I	probably benign	Het
Brd2	ATCTTCTTC	ATCTTC	17: 34,114,007		probably benign	Het
Ccdc162	T	C	10: 41,553,182	D438G	possibly damaging	Het
Cyp4x1	T	A	4: 115,112,791		probably benign	Het
Dip2a	T	C	10: 76,279,820		probably benign	Het
Eif2s1	A	G	12: 78,881,168	D206G	probably benign	Het
Elovl7	T	A	13: 108,282,494	I220N	possibly damaging	Het
Gsto1	A	G	19: 47,857,942	E76G	probably damaging	Het
Hspa14	A	T	2: 3,508,821	W12R	probably damaging	Het
L3mbtl2	T	A	15: 81,676,317	C260S	possibly damaging	Het
Lama3	G	T	18: 12,481,098		probably null	Het
Lrrc34	T	A	3: 30,643,579		probably benign	Het
Lrrc45	A	T	11: 120,720,013	Q525L	probably benign	Het
Lss	T	C	10: 76,536,303	I164T	probably damaging	Het
Myh11	T	A	16: 14,205,931	K1527*	probably null	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Ncoa1	T	A	12: 4,270,737		probably benign	Het
Olfr262	G	T	19: 12,241,182	Q160K	possibly damaging	Het
Olfr768	A	T	10: 129,093,690	C95S	probably damaging	Het
Pafah1b3	T	C	7: 25,297,135	E41G	possibly damaging	Het
Pnmal1	C	T	7: 16,960,984	P255S	possibly damaging	Het
Prkar2b	A	T	12: 31,962,988		probably benign	Het
Rbck1	A	T	2: 152,327,241		probably benign	Het
Rcor2	A	G	19: 7,271,030	S137G	possibly damaging	Het
Slc25a48	T	A	13: 56,448,991		probably benign	Het
Slc7a4	A	G	16: 17,573,944		probably null	Het
Tert	T	C	13: 73,642,353		probably benign	Het
Traf7	A	T	17: 24,511,681	I344N	probably damaging	Het
Vmn1r194	T	A	13: 22,245,066	F284L	probably damaging	Het
Xpc	A	G	6: 91,493,238	M699T	probably damaging	Het
Zbtb5	T	C	4: 44,993,968	H472R	possibly damaging	Het
Zkscan7	T	C	9: 122,895,163	I399T	probably benign	Het
Zyg11b	G	A	4: 108,250,812	R466C	probably damaging	Het

Other mutations in Zfp786

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00593:Zfp786	APN	6	47819671	makesense	probably null
IGL02442:Zfp786	APN	6	47821367	missense	probably benign	0.00
IGL02674:Zfp786	APN	6	47820493	missense	probably benign	0.22
IGL02814:Zfp786	APN	6	47819841	missense	probably damaging	1.00
IGL03072:Zfp786	APN	6	47821243	missense	probably benign	0.01
IGL03294:Zfp786	APN	6	47821324	nonsense	probably null
IGL03393:Zfp786	APN	6	47821524	missense	possibly damaging	0.88
3-1:Zfp786	UTSW	6	47820445	missense	probably damaging	1.00
PIT4581001:Zfp786	UTSW	6	47819822	missense	probably damaging	1.00
R1071:Zfp786	UTSW	6	47821305	missense	possibly damaging	0.91
R1976:Zfp786	UTSW	6	47819757	missense	probably damaging	1.00
R2114:Zfp786	UTSW	6	47826997	missense	probably damaging	1.00
R2115:Zfp786	UTSW	6	47826997	missense	probably damaging	1.00
R2117:Zfp786	UTSW	6	47826997	missense	probably damaging	1.00
R2176:Zfp786	UTSW	6	47820971	missense	possibly damaging	0.65
R2304:Zfp786	UTSW	6	47820699	missense	probably damaging	1.00
R3110:Zfp786	UTSW	6	47820226	missense	probably damaging	1.00
R3112:Zfp786	UTSW	6	47820226	missense	probably damaging	1.00
R3623:Zfp786	UTSW	6	47821423	missense	probably benign	0.00
R4654:Zfp786	UTSW	6	47820934	missense	probably benign	0.01
R4741:Zfp786	UTSW	6	47820691	missense	probably damaging	1.00
R4927:Zfp786	UTSW	6	47820153	missense	probably benign	0.43
R4936:Zfp786	UTSW	6	47821268	nonsense	probably null
R5084:Zfp786	UTSW	6	47820019	missense	probably benign	0.00
R5445:Zfp786	UTSW	6	47819685	missense	probably damaging	1.00
R6662:Zfp786	UTSW	6	47826986	missense	probably damaging	1.00
R7290:Zfp786	UTSW	6	47819995	missense	probably damaging	1.00
R7561:Zfp786	UTSW	6	47819733	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGCAGCATCAAGCCTTGGTTCA -3'
(R):5'- CAAGCCAAATTACCCTGTCTGACTCTTC -3'

Sequencing Primer
(F):5'- ggtggaggaagaagaaaagtgg -3'
(R):5'- TGAACTTGGGAGAGAGCTCT -3'

Posted On

2014-03-14