Mutagenetix > Incidental Mutation

Incidental Mutation 'R5076:Zfp788'

395769

Institutional Source

Beutler Lab

Gene Symbol

Zfp788

Ensembl Gene

ENSMUSG00000074165

Gene Name

zinc finger protein 788

Synonyms

MMRRC Submission

042665-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41633203-41651530 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41648584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 163 (F163I)

Ref Sequence

ENSEMBL: ENSMUSP00000132848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045720] [ENSMUST00000098508] [ENSMUST00000100275] [ENSMUST00000131180] [ENSMUST00000140964] [ENSMUST00000154942] [ENSMUST00000170770]

AlphaFold

E9Q980

Predicted Effect

probably benign
Transcript: ENSMUST00000045720
AA Change: F195I

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000035499
Gene: ENSMUSG00000074165
AA Change: F195I

Domain	Start	End	E-Value	Type
KRAB	4	67	7.82e-17	SMART
ZnF_C2H2	218	240	2.53e-2	SMART
ZnF_C2H2	246	268	2.71e-2	SMART
ZnF_C2H2	274	296	8.47e-4	SMART
ZnF_C2H2	302	324	3.16e-3	SMART
ZnF_C2H2	330	352	1.38e-3	SMART
ZnF_C2H2	358	380	4.54e-4	SMART
ZnF_C2H2	386	408	1.36e-2	SMART
ZnF_C2H2	414	436	2.24e-3	SMART
ZnF_C2H2	442	464	5.14e-3	SMART
ZnF_C2H2	470	492	5.14e-3	SMART
ZnF_C2H2	498	520	5.42e-2	SMART
ZnF_C2H2	526	548	8.6e-5	SMART
ZnF_C2H2	554	576	1.53e-1	SMART
ZnF_C2H2	582	604	2.4e-3	SMART
ZnF_C2H2	610	632	8.81e-2	SMART
ZnF_C2H2	638	660	9.58e-3	SMART
ZnF_C2H2	666	688	4.54e-4	SMART
ZnF_C2H2	694	716	1.1e-2	SMART
ZnF_C2H2	722	744	3.63e-3	SMART
ZnF_C2H2	750	772	8.94e-3	SMART
ZnF_C2H2	778	800	1.5e-4	SMART
ZnF_C2H2	806	828	4.24e-4	SMART
ZnF_C2H2	834	856	5.06e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098508
AA Change: F215I

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096108
Gene: ENSMUSG00000074165
AA Change: F215I

Domain	Start	End	E-Value	Type
KRAB	24	87	7.82e-17	SMART
ZnF_C2H2	238	260	2.53e-2	SMART
ZnF_C2H2	266	288	2.71e-2	SMART
ZnF_C2H2	294	316	8.47e-4	SMART
ZnF_C2H2	322	344	3.16e-3	SMART
ZnF_C2H2	350	372	1.38e-3	SMART
ZnF_C2H2	378	400	4.54e-4	SMART
ZnF_C2H2	406	428	1.36e-2	SMART
ZnF_C2H2	434	456	2.24e-3	SMART
ZnF_C2H2	462	484	5.14e-3	SMART
ZnF_C2H2	490	512	5.14e-3	SMART
ZnF_C2H2	518	540	5.42e-2	SMART
ZnF_C2H2	546	568	8.6e-5	SMART
ZnF_C2H2	574	596	1.53e-1	SMART
ZnF_C2H2	602	624	2.4e-3	SMART
ZnF_C2H2	630	652	8.81e-2	SMART
ZnF_C2H2	658	680	9.58e-3	SMART
ZnF_C2H2	686	708	4.54e-4	SMART
ZnF_C2H2	714	736	1.1e-2	SMART
ZnF_C2H2	742	764	3.63e-3	SMART
ZnF_C2H2	770	792	8.94e-3	SMART
ZnF_C2H2	798	820	1.5e-4	SMART
ZnF_C2H2	826	848	4.24e-4	SMART
ZnF_C2H2	854	876	5.06e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100275
AA Change: F163I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097847
Gene: ENSMUSG00000074165
AA Change: F163I

Domain	Start	End	E-Value	Type
Blast:KRAB	1	35	1e-16	BLAST
ZnF_C2H2	186	208	2.53e-2	SMART
ZnF_C2H2	214	236	2.71e-2	SMART
ZnF_C2H2	242	264	8.47e-4	SMART
ZnF_C2H2	270	292	3.16e-3	SMART
ZnF_C2H2	298	320	1.38e-3	SMART
ZnF_C2H2	326	348	4.54e-4	SMART
ZnF_C2H2	354	376	1.36e-2	SMART
ZnF_C2H2	382	404	2.24e-3	SMART
ZnF_C2H2	410	432	5.14e-3	SMART
ZnF_C2H2	438	460	5.14e-3	SMART
ZnF_C2H2	466	488	5.42e-2	SMART
ZnF_C2H2	494	516	8.6e-5	SMART
ZnF_C2H2	522	544	1.53e-1	SMART
ZnF_C2H2	550	572	2.4e-3	SMART
ZnF_C2H2	578	600	8.81e-2	SMART
ZnF_C2H2	606	628	9.58e-3	SMART
ZnF_C2H2	634	656	4.54e-4	SMART
ZnF_C2H2	662	684	1.1e-2	SMART
ZnF_C2H2	690	712	3.63e-3	SMART
ZnF_C2H2	718	740	8.94e-3	SMART
ZnF_C2H2	746	768	1.5e-4	SMART
ZnF_C2H2	774	796	4.24e-4	SMART
ZnF_C2H2	802	824	5.06e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131180

SMART Domains

Protein: ENSMUSP00000114542
Gene: ENSMUSG00000074165

Domain	Start	End	E-Value	Type
KRAB	24	87	7.82e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140964
AA Change: F163I

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116050
Gene: ENSMUSG00000074165
AA Change: F163I

Domain	Start	End	E-Value	Type
Blast:KRAB	1	35	4e-17	BLAST
ZnF_C2H2	186	208	2.53e-2	SMART
ZnF_C2H2	214	236	2.71e-2	SMART
ZnF_C2H2	242	264	8.47e-4	SMART
ZnF_C2H2	270	292	3.16e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154942

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170770
AA Change: F163I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132848
Gene: ENSMUSG00000074165
AA Change: F163I

Domain	Start	End	E-Value	Type
Blast:KRAB	1	35	1e-16	BLAST
ZnF_C2H2	186	208	2.53e-2	SMART
ZnF_C2H2	214	236	2.71e-2	SMART
ZnF_C2H2	242	264	8.47e-4	SMART
ZnF_C2H2	270	292	3.16e-3	SMART
ZnF_C2H2	298	320	1.38e-3	SMART
ZnF_C2H2	326	348	4.54e-4	SMART
ZnF_C2H2	354	376	1.36e-2	SMART
ZnF_C2H2	382	404	2.24e-3	SMART
ZnF_C2H2	410	432	5.14e-3	SMART
ZnF_C2H2	438	460	5.14e-3	SMART
ZnF_C2H2	466	488	5.42e-2	SMART
ZnF_C2H2	494	516	8.6e-5	SMART
ZnF_C2H2	522	544	1.53e-1	SMART
ZnF_C2H2	550	572	2.4e-3	SMART
ZnF_C2H2	578	600	8.81e-2	SMART
ZnF_C2H2	606	628	9.58e-3	SMART
ZnF_C2H2	634	656	4.54e-4	SMART
ZnF_C2H2	662	684	1.1e-2	SMART
ZnF_C2H2	690	712	3.63e-3	SMART
ZnF_C2H2	718	740	8.94e-3	SMART
ZnF_C2H2	746	768	1.5e-4	SMART
ZnF_C2H2	774	796	4.24e-4	SMART
ZnF_C2H2	802	824	5.06e-2	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.0%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 90,056,252	I72V	probably benign	Het
Aadacl3	G	A	4: 144,456,070	P276L	possibly damaging	Het
Acp6	T	A	3: 97,167,989	S180T	probably benign	Het
Adgrd1	A	T	5: 129,143,989	R449*	probably null	Het
Ak1	T	C	2: 32,633,448	V176A	probably damaging	Het
Capzb	A	T	4: 139,287,814	D226V	possibly damaging	Het
Cd34	A	T	1: 194,948,030		probably benign	Het
Cdh15	C	A	8: 122,864,348	D445E	possibly damaging	Het
Chil4	A	G	3: 106,202,597	F367L	probably damaging	Het
Clstn2	T	C	9: 97,483,079	Y458C	probably damaging	Het
Ctsw	T	C	19: 5,468,458	Y9C	probably benign	Het
Dhrs7	T	C	12: 72,659,481	D50G	probably benign	Het
Dnah14	A	G	1: 181,757,234	K3177E	probably benign	Het
Ehd1	T	C	19: 6,277,221	F83L	probably benign	Het
Eif5a2	G	A	3: 28,782,737	V59I	possibly damaging	Het
Emilin3	T	A	2: 160,909,318		probably null	Het
Entpd8	A	G	2: 25,085,054	S426G	possibly damaging	Het
Epb41l4b	C	T	4: 57,040,984	G493D	probably damaging	Het
Fam208b	C	T	13: 3,576,357	V1198I	probably benign	Het
Gm11596	C	T	11: 99,792,872	G141R	unknown	Het
Gm1840	T	G	8: 5,640,130		noncoding transcript	Het
H2-Q4	T	C	17: 35,380,441	Y167H	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Itpr1	A	G	6: 108,405,529		probably null	Het
Kif2c	A	T	4: 117,174,869		probably benign	Het
Klrb1-ps1	C	T	6: 129,119,788		noncoding transcript	Het
Krtap9-5	A	T	11: 99,949,468	T332S	unknown	Het
Lrrc39	A	T	3: 116,579,540	E283V	probably benign	Het
Mdga1	A	G	17: 29,850,554	S447P	possibly damaging	Het
Mindy1	G	A	3: 95,295,399	V425M	probably benign	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Mrps5	T	A	2: 127,600,852	Y280*	probably null	Het
Muc3a	T	A	5: 137,210,540	T159S	probably damaging	Het
Olfr1252	T	A	2: 89,721,401	T237S	probably damaging	Het
Olfr1310	A	T	2: 112,008,592	M198K	probably damaging	Het
Olfr286	T	A	15: 98,226,761	I295F	probably damaging	Het
Pcdhga4	G	A	18: 37,685,595	V66I	probably benign	Het
Pdhx	T	C	2: 103,041,077	T203A	probably damaging	Het
Pdss1	A	G	2: 22,899,917		probably null	Het
Pdxk	G	T	10: 78,450,307	Q103K	probably benign	Het
Peg3	A	G	7: 6,708,420	C1268R	probably damaging	Het
Pitpnc1	A	T	11: 107,296,267	S77T	probably damaging	Het
Pnisr	T	A	4: 21,874,990		probably benign	Het
Poc1b	C	T	10: 99,107,841	T22I	probably damaging	Het
Ppfia1	G	A	7: 144,506,264	R604W	probably damaging	Het
Ppp1r3a	A	G	6: 14,754,681	F189S	probably damaging	Het
Rbks	T	A	5: 31,650,451	Y99*	probably null	Het
Rsg1	A	G	4: 141,217,385	I82M	probably benign	Het
Sh3rf2	G	T	18: 42,053,924	C36F	probably damaging	Het
Spock3	T	A	8: 63,345,855	N303K	probably damaging	Het
Tcaf2	T	C	6: 42,629,467	T518A	probably benign	Het
Tmem163	A	T	1: 127,500,276	V191D	probably damaging	Het
Trappc6b	A	G	12: 59,050,308	V76A	probably damaging	Het
Ube2nl	A	G	7: 61,549,532		noncoding transcript	Het
Unc5d	C	T	8: 28,694,676	V599M	possibly damaging	Het
Vmn1r184	A	T	7: 26,266,921	M31L	probably benign	Het
Vrtn	C	A	12: 84,649,474	Q333K	probably damaging	Het
Zfyve1	C	T	12: 83,555,647	R458H	probably damaging	Het

Other mutations in Zfp788

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB007:Zfp788	UTSW	7	41649625	nonsense	probably null
BB017:Zfp788	UTSW	7	41649625	nonsense	probably null
R0207:Zfp788	UTSW	7	41649596	missense	probably damaging	1.00
R0320:Zfp788	UTSW	7	41649547	missense	probably damaging	1.00
R0608:Zfp788	UTSW	7	41648281	missense	possibly damaging	0.53
R1184:Zfp788	UTSW	7	41648326	missense	probably damaging	1.00
R1483:Zfp788	UTSW	7	41649075	nonsense	probably null
R1985:Zfp788	UTSW	7	41650481	missense	probably damaging	0.98
R2030:Zfp788	UTSW	7	41649560	missense	probably damaging	1.00
R2207:Zfp788	UTSW	7	41649640	missense	probably damaging	0.99
R2313:Zfp788	UTSW	7	41648888	missense	probably damaging	0.99
R3791:Zfp788	UTSW	7	41649728	missense	probably damaging	0.99
R3872:Zfp788	UTSW	7	41649444	nonsense	probably null
R4126:Zfp788	UTSW	7	41649436	missense	probably damaging	0.97
R4579:Zfp788	UTSW	7	41647594	missense	probably benign	0.00
R4833:Zfp788	UTSW	7	41647568	missense	probably benign	0.31
R5175:Zfp788	UTSW	7	41649329	missense	probably damaging	1.00
R5225:Zfp788	UTSW	7	41649556	missense	probably benign	0.16
R5364:Zfp788	UTSW	7	41650127	missense	probably damaging	1.00
R5427:Zfp788	UTSW	7	41649652	missense	possibly damaging	0.82
R5484:Zfp788	UTSW	7	41649853	missense	probably damaging	0.96
R5659:Zfp788	UTSW	7	41650116	nonsense	probably null
R5917:Zfp788	UTSW	7	41649148	missense	probably benign
R6064:Zfp788	UTSW	7	41648454	missense	probably benign	0.18
R6128:Zfp788	UTSW	7	41650361	missense	probably damaging	1.00
R6144:Zfp788	UTSW	7	41649769	missense	probably damaging	0.97
R6182:Zfp788	UTSW	7	41650516	missense	probably damaging	0.98
R6299:Zfp788	UTSW	7	41648541	missense	possibly damaging	0.81
R6823:Zfp788	UTSW	7	41649560	missense	probably damaging	1.00
R6974:Zfp788	UTSW	7	41649877	nonsense	probably null
R7497:Zfp788	UTSW	7	41648851	missense	possibly damaging	0.92
R7930:Zfp788	UTSW	7	41649625	nonsense	probably null
R7979:Zfp788	UTSW	7	41634900	critical splice donor site	probably null
R8178:Zfp788	UTSW	7	41648911	missense	probably damaging	1.00
R8193:Zfp788	UTSW	7	41648614	missense	probably benign	0.35
R8195:Zfp788	UTSW	7	41649377	missense	probably benign	0.01
R8699:Zfp788	UTSW	7	41648416	missense	probably benign	0.13
R8964:Zfp788	UTSW	7	41647579	missense	probably damaging	1.00
R9037:Zfp788	UTSW	7	41648891	missense	probably damaging	0.99
R9122:Zfp788	UTSW	7	41650495	nonsense	probably null
R9133:Zfp788	UTSW	7	41650060	missense
R9256:Zfp788	UTSW	7	41650214	missense	probably benign	0.03
R9372:Zfp788	UTSW	7	41650284	nonsense	probably null
R9570:Zfp788	UTSW	7	41650582	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- AGGTCTTATAACGTTTGTGCCACATC -3'
(R):5'- ATAAGGCTTTTCCTCAGTATGAGC -3'

Sequencing Primer
(F):5'- ATAACGTTTGTGCCACATCCTTTGG -3'
(R):5'- CTGAAAGCTTTACCACACTGTAGG -3'

Posted On

2016-06-21