Mutagenetix > Incidental Mutation

Incidental Mutation 'R5602:Zfp768'

439081

Institutional Source

Beutler Lab

Gene Symbol

Zfp768

Ensembl Gene

ENSMUSG00000047371

Gene Name

zinc finger protein 768

Synonyms

MMRRC Submission

043154-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R5602 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127342795-127345589 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127344632 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 108 (D108V)

Ref Sequence

ENSEMBL: ENSMUSP00000145704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060783] [ENSMUST00000205266]

AlphaFold

Q8R0T2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060783
AA Change: D111V

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000055374
Gene: ENSMUSG00000047371
AA Change: D111V

Domain	Start	End	E-Value	Type
low complexity region	62	80	N/A	INTRINSIC
Pfam:RNA_pol_Rpb1_R	112	130	3.7e-4	PFAM
Pfam:RNA_pol_Rpb1_R	133	152	1.3e-4	PFAM
low complexity region	271	288	N/A	INTRINSIC
ZnF_C2H2	289	311	7.15e-2	SMART
ZnF_C2H2	317	339	1.22e-4	SMART
ZnF_C2H2	345	367	1.5e-4	SMART
ZnF_C2H2	373	395	4.3e-5	SMART
ZnF_C2H2	401	423	4.24e-4	SMART
ZnF_C2H2	429	451	9.58e-3	SMART
ZnF_C2H2	457	479	1.47e-3	SMART
ZnF_C2H2	485	507	7.49e-5	SMART
ZnF_C2H2	513	535	1.03e-2	SMART
ZnF_C2H2	541	563	6.52e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205266
AA Change: D108V

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	G	A	9: 92,352,668	C152Y	possibly damaging	Het
4921509C19Rik	G	A	2: 151,473,539	S73F	possibly damaging	Het
4932414N04Rik	A	T	2: 68,748,368	*753L	probably null	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adam19	T	C	11: 46,136,315	S592P	probably benign	Het
Adamtsl3	A	G	7: 82,557,239	K843R	possibly damaging	Het
Ap2a2	A	T	7: 141,604,942	T213S	probably benign	Het
Asb5	A	G	8: 54,585,939	E280G	probably benign	Het
Becn1	T	C	11: 101,288,952	D403G	probably damaging	Het
Ccr7	G	T	11: 99,145,489	N202K	probably benign	Het
Cd36	T	C	5: 17,814,792	T104A	possibly damaging	Het
Cnot4	C	T	6: 35,051,529	W384*	probably null	Het
Col15a1	G	A	4: 47,312,087	V1301M	probably damaging	Het
Dock2	C	A	11: 34,254,391	A1384S	probably benign	Het
Ehbp1l1	T	C	19: 5,708,670	E1648G	possibly damaging	Het
Fbn1	G	T	2: 125,321,741	A2065E	possibly damaging	Het
Fras1	A	G	5: 96,737,021	Y2586C	probably damaging	Het
Galm	T	A	17: 80,150,139	Y28*	probably null	Het
Ggt7	A	G	2: 155,490,999	V648A	possibly damaging	Het
Gm17067	T	A	7: 42,708,415	D221V	probably damaging	Het
Gpr3	T	C	4: 133,210,494	N289S	probably damaging	Het
Ighv11-2	G	A	12: 114,048,479	L39F	probably damaging	Het
Ighv11-2	A	G	12: 114,048,657		probably benign	Het
Ipo9	G	A	1: 135,402,245	L486F	probably damaging	Het
Jak2	T	A	19: 29,298,339	N726K	probably benign	Het
Map4	T	C	9: 110,052,700	S211P	possibly damaging	Het
Mlh1	A	T	9: 111,252,878	L259Q	probably damaging	Het
Naa25	A	G	5: 121,420,495	E300G	probably benign	Het
Olfr954	A	T	9: 39,462,030	M200L	probably benign	Het
Olfr969	T	A	9: 39,796,194	V273E	possibly damaging	Het
Parva	G	A	7: 112,567,765	V182I	probably benign	Het
Pcdhgb4	T	C	18: 37,721,644	I364T	probably damaging	Het
Pdik1l	A	G	4: 134,284,269	S164P	probably damaging	Het
Pfas	A	T	11: 68,991,045	I938N	probably benign	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,893,123		probably null	Het
Prob1	C	T	18: 35,654,026	V392M	possibly damaging	Het
Rasgrf1	T	C	9: 89,911,571	S134P	possibly damaging	Het
Rorb	T	A	19: 18,977,937	Y20F	probably damaging	Het
Rsph9	G	T	17: 46,134,983	D220E	probably damaging	Het
Safb2	C	A	17: 56,575,630	K334N	possibly damaging	Het
Sall3	T	C	18: 80,972,812	T634A	probably benign	Het
Scaf1	A	G	7: 45,007,583		probably benign	Het
Slco1a5	T	A	6: 142,275,529		probably benign	Het
Spata21	C	T	4: 141,096,899	R158C	probably benign	Het
Srrm2	G	A	17: 23,819,337		probably benign	Het
Stk38l	C	A	6: 146,758,500	T10N	probably benign	Het
Supv3l1	G	A	10: 62,430,592	P602S	possibly damaging	Het
Timm44	C	T	8: 4,266,769		probably null	Het
Tll2	T	A	19: 41,104,981	R465S	possibly damaging	Het
Tmem104	G	A	11: 115,205,124	A164T	probably damaging	Het
Tmem151b	A	G	17: 45,545,600	S305P	probably damaging	Het
Utrn	T	C	10: 12,750,095	D114G	probably damaging	Het
Vmn2r109	A	T	17: 20,540,671	M808K	possibly damaging	Het
Washc2	T	A	6: 116,248,095	D801E	possibly damaging	Het
Xkr4	T	C	1: 3,216,528	I480V	probably benign	Het
Zfp507	G	T	7: 35,776,238	S58*	probably null	Het

Other mutations in Zfp768

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01153:Zfp768	APN	7	127344531	missense	possibly damaging	0.80
IGL03236:Zfp768	APN	7	127343970	missense	possibly damaging	0.93
R1490:Zfp768	UTSW	7	127343631	missense	probably damaging	1.00
R1497:Zfp768	UTSW	7	127343561	missense	probably damaging	1.00
R2251:Zfp768	UTSW	7	127344378	missense	probably benign
R2298:Zfp768	UTSW	7	127344189	missense	probably benign	0.11
R2360:Zfp768	UTSW	7	127344638	missense	probably benign	0.43
R4751:Zfp768	UTSW	7	127344762	missense	possibly damaging	0.94
R4795:Zfp768	UTSW	7	127343375	missense	possibly damaging	0.60
R5011:Zfp768	UTSW	7	127343703	missense	probably damaging	1.00
R5518:Zfp768	UTSW	7	127344411	missense	probably benign
R5876:Zfp768	UTSW	7	127344546	missense	probably benign	0.01
R6245:Zfp768	UTSW	7	127344091	nonsense	probably null
R6273:Zfp768	UTSW	7	127345147	critical splice donor site	probably null
R6376:Zfp768	UTSW	7	127344720	missense	probably benign	0.34
R6475:Zfp768	UTSW	7	127344655	missense	probably damaging	0.97
R7125:Zfp768	UTSW	7	127344787	missense	probably damaging	0.98
R7905:Zfp768	UTSW	7	127344659	missense	probably damaging	0.99
R8781:Zfp768	UTSW	7	127343304	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTCTGCGGTTCATACCC -3'
(R):5'- TCTCAGCGAGAAGGCAATGG -3'

Sequencing Primer
(F):5'- CGGGGCTCTGAGATTCATAC -3'
(R):5'- GGGACTATGAAGTTGAAGAAATACC -3'

Posted On

2016-10-26