Mutagenetix > Incidental Mutation

Incidental Mutation 'R4579:Zfp788'

343505

Institutional Source

Beutler Lab

Gene Symbol

Zfp788

Ensembl Gene

ENSMUSG00000074165

Gene Name

zinc finger protein 788

Synonyms

2810426N06Rik

MMRRC Submission

041801-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R4579 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41282955-41300305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 41297018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 56 (I56S)

Ref Sequence

ENSEMBL: ENSMUSP00000114542 (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: I36S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035499
Gene: ENSMUSG00000074165
AA Change: I36S

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: I56S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096108
Gene: ENSMUSG00000074165
AA Change: I56S

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

probably benign
Transcript: ENSMUST00000100275
AA Change: I4S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097847
Gene: ENSMUSG00000074165
AA Change: I4S

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
AA Change: I56S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000114542
Gene: ENSMUSG00000074165
AA Change: I56S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140964
AA Change: I4S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116050
Gene: ENSMUSG00000074165
AA Change: I4S

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

probably benign
Transcript: ENSMUST00000170770
AA Change: I4S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132848
Gene: ENSMUSG00000074165
AA Change: I4S

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (88/91)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930004D18Rik	A	G	2: 18,031,848 (GRCm39)	I90T	probably damaging	Het
Acox3	A	G	5: 35,761,987 (GRCm39)	N444D	probably damaging	Het
Adamts16	A	G	13: 70,927,743 (GRCm39)	Y499H	probably damaging	Het
Ajm1	T	A	2: 25,469,661 (GRCm39)	R83S	possibly damaging	Het
Ank2	A	T	3: 126,752,612 (GRCm39)	V368D	probably damaging	Het
Atad5	T	C	11: 79,986,017 (GRCm39)	V368A	probably damaging	Het
Atp13a5	T	C	16: 29,067,090 (GRCm39)		probably null	Het
Bdh1	A	T	16: 31,254,954 (GRCm39)		probably benign	Het
Bmp6	A	T	13: 38,653,701 (GRCm39)	Y256F	probably damaging	Het
Bub1b	C	A	2: 118,453,657 (GRCm39)	S496*	probably null	Het
Capn15	C	T	17: 26,178,811 (GRCm39)	R1128H	probably damaging	Het
Ccnf	T	A	17: 24,450,303 (GRCm39)	R461*	probably null	Het
Col6a1	C	T	10: 76,547,191 (GRCm39)	V725I	unknown	Het
Cp	T	C	3: 20,011,599 (GRCm39)		probably null	Het
Cul2	T	C	18: 3,430,957 (GRCm39)	V577A	probably benign	Het
Cux2	A	T	5: 121,998,716 (GRCm39)	I1408K	probably benign	Het
Cyp2c69	T	A	19: 39,869,630 (GRCm39)	T130S	possibly damaging	Het
Cyp3a57	A	G	5: 145,311,074 (GRCm39)	T278A	probably benign	Het
Dchs1	T	G	7: 105,403,972 (GRCm39)	T2857P	probably damaging	Het
Dchs1	A	G	7: 105,408,180 (GRCm39)	M1884T	probably benign	Het
Dnah3	T	C	7: 119,608,554 (GRCm39)	S1802G	probably damaging	Het
Dner	T	C	1: 84,361,537 (GRCm39)	S691G	probably damaging	Het
Dzip1l	A	T	9: 99,529,267 (GRCm39)	Q332L	probably damaging	Het
Eprs1	A	G	1: 185,133,804 (GRCm39)	Y827C	probably damaging	Het
Ermp1	A	T	19: 29,594,051 (GRCm39)	N706K	probably damaging	Het
F830045P16Rik	A	G	2: 129,305,423 (GRCm39)	L317S	probably damaging	Het
Fam120c	G	T	X: 150,219,179 (GRCm39)	G696W	probably damaging	Het
Fance	T	A	17: 28,536,125 (GRCm39)		probably null	Het
Fancl	G	T	11: 26,418,423 (GRCm39)		probably null	Het
Fbxo30	T	A	10: 11,165,293 (GRCm39)	V5E	probably benign	Het
Foxn4	A	T	5: 114,394,886 (GRCm39)	I347N	possibly damaging	Het
Galr2	A	T	11: 116,172,325 (GRCm39)	D5V	probably benign	Het
Gm4845	T	G	1: 141,184,865 (GRCm39)		noncoding transcript	Het
Gnao1	A	T	8: 94,693,532 (GRCm39)	Q73L	probably damaging	Het
Gnpat	T	A	8: 125,605,241 (GRCm39)		probably null	Het
H2-T5	C	T	17: 36,472,649 (GRCm39)		probably benign	Het
Hectd1	A	G	12: 51,791,356 (GRCm39)	M2594T	probably damaging	Het
Hint3	T	C	10: 30,486,428 (GRCm39)	H117R	probably damaging	Het
Hsd3b6	A	G	3: 98,713,541 (GRCm39)	F253L	probably damaging	Het
Itgal	A	G	7: 126,904,466 (GRCm39)	D313G	possibly damaging	Het
Kbtbd2	A	T	6: 56,755,893 (GRCm39)	D614E	probably damaging	Het
Ksr2	A	T	5: 117,894,335 (GRCm39)	I825F	probably damaging	Het
L3mbtl4	A	T	17: 69,071,635 (GRCm39)	S521C	probably benign	Het
Lamc1	T	C	1: 153,123,015 (GRCm39)	N725S	probably damaging	Het
Med1	T	G	11: 98,049,248 (GRCm39)	E516A	possibly damaging	Het
Mical3	A	T	6: 120,935,660 (GRCm39)	V1622E	probably benign	Het
Miip	G	A	4: 147,945,518 (GRCm39)	P373S	probably damaging	Het
Myo7a	C	A	7: 97,722,400 (GRCm39)	S1175I	probably damaging	Het
Ndst3	A	T	3: 123,340,474 (GRCm39)	D781E	probably benign	Het
Nf1	T	A	11: 79,359,583 (GRCm39)	V1407E	probably damaging	Het
Opalin	A	G	19: 41,056,196 (GRCm39)	L33P	probably damaging	Het
Or2f2	A	T	6: 42,767,458 (GRCm39)	I162F	probably benign	Het
Or2n1b	G	C	17: 38,460,296 (GRCm39)	K272N	probably damaging	Het
Or4c111	T	C	2: 88,843,488 (GRCm39)	I307V	probably benign	Het
Or8b12i	G	T	9: 20,082,410 (GRCm39)	S152R	probably damaging	Het
Or8k28	T	C	2: 86,285,859 (GRCm39)	Y252C	probably damaging	Het
Or8s10	A	T	15: 98,335,560 (GRCm39)	D70V	probably damaging	Het
Pcdhb2	T	A	18: 37,429,168 (GRCm39)	N23K	probably damaging	Het
Pdap1	A	G	5: 145,073,691 (GRCm39)		probably benign	Het
Pds5b	A	G	5: 150,670,197 (GRCm39)	E395G	probably damaging	Het
Pex1	C	A	5: 3,668,880 (GRCm39)	R624S	probably benign	Het
Pitrm1	G	A	13: 6,608,261 (GRCm39)	V329I	probably benign	Het
Pop1	G	A	15: 34,515,970 (GRCm39)		probably benign	Het
Prkaa1	A	G	15: 5,190,082 (GRCm39)		probably null	Het
Slc38a6	G	T	12: 73,335,298 (GRCm39)		probably null	Het
Slc5a9	T	A	4: 111,750,384 (GRCm39)	Y158F	probably damaging	Het
Spata3	T	A	1: 85,954,175 (GRCm39)	V114E	probably damaging	Het
Tbcb	T	A	7: 29,931,019 (GRCm39)	I34F	possibly damaging	Het
Tek	T	A	4: 94,751,903 (GRCm39)	Y1014*	probably null	Het
Togaram1	G	T	12: 65,014,681 (GRCm39)	C644F	probably damaging	Het
Trim56	A	C	5: 137,142,918 (GRCm39)	D199E	possibly damaging	Het
Tssk3	A	T	4: 129,383,110 (GRCm39)	D187E	probably benign	Het
Ttn	G	A	2: 76,727,147 (GRCm39)		probably benign	Het
Twf2	G	A	9: 106,090,025 (GRCm39)	R126Q	probably benign	Het
Ugt1a10	T	C	1: 87,983,838 (GRCm39)	M212T	probably benign	Het
Vmn1r177	A	T	7: 23,565,772 (GRCm39)	F35I	possibly damaging	Het
Vmn1r44	T	A	6: 89,870,915 (GRCm39)	H77Q	possibly damaging	Het
Zfp1004	T	A	2: 150,034,143 (GRCm39)	Y186N	probably damaging	Het
Zfp524	G	A	7: 5,021,347 (GRCm39)	V292I	probably benign	Het

Other mutations in Zfp788

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB007:Zfp788	UTSW	7	41,299,049 (GRCm39)	nonsense	probably null
BB017:Zfp788	UTSW	7	41,299,049 (GRCm39)	nonsense	probably null
R0207:Zfp788	UTSW	7	41,299,020 (GRCm39)	missense	probably damaging	1.00
R0320:Zfp788	UTSW	7	41,298,971 (GRCm39)	missense	probably damaging	1.00
R0608:Zfp788	UTSW	7	41,297,705 (GRCm39)	missense	possibly damaging	0.53
R1184:Zfp788	UTSW	7	41,297,750 (GRCm39)	missense	probably damaging	1.00
R1483:Zfp788	UTSW	7	41,298,499 (GRCm39)	nonsense	probably null
R1985:Zfp788	UTSW	7	41,299,905 (GRCm39)	missense	probably damaging	0.98
R2030:Zfp788	UTSW	7	41,298,984 (GRCm39)	missense	probably damaging	1.00
R2207:Zfp788	UTSW	7	41,299,064 (GRCm39)	missense	probably damaging	0.99
R2313:Zfp788	UTSW	7	41,298,312 (GRCm39)	missense	probably damaging	0.99
R3791:Zfp788	UTSW	7	41,299,152 (GRCm39)	missense	probably damaging	0.99
R3872:Zfp788	UTSW	7	41,298,868 (GRCm39)	nonsense	probably null
R4126:Zfp788	UTSW	7	41,298,860 (GRCm39)	missense	probably damaging	0.97
R4833:Zfp788	UTSW	7	41,296,992 (GRCm39)	missense	probably benign	0.31
R5076:Zfp788	UTSW	7	41,298,008 (GRCm39)	missense	possibly damaging	0.93
R5175:Zfp788	UTSW	7	41,298,753 (GRCm39)	missense	probably damaging	1.00
R5225:Zfp788	UTSW	7	41,298,980 (GRCm39)	missense	probably benign	0.16
R5364:Zfp788	UTSW	7	41,299,551 (GRCm39)	missense	probably damaging	1.00
R5427:Zfp788	UTSW	7	41,299,076 (GRCm39)	missense	possibly damaging	0.82
R5484:Zfp788	UTSW	7	41,299,277 (GRCm39)	missense	probably damaging	0.96
R5659:Zfp788	UTSW	7	41,299,540 (GRCm39)	nonsense	probably null
R5917:Zfp788	UTSW	7	41,298,572 (GRCm39)	missense	probably benign
R6064:Zfp788	UTSW	7	41,297,878 (GRCm39)	missense	probably benign	0.18
R6128:Zfp788	UTSW	7	41,299,785 (GRCm39)	missense	probably damaging	1.00
R6144:Zfp788	UTSW	7	41,299,193 (GRCm39)	missense	probably damaging	0.97
R6182:Zfp788	UTSW	7	41,299,940 (GRCm39)	missense	probably damaging	0.98
R6299:Zfp788	UTSW	7	41,297,965 (GRCm39)	missense	possibly damaging	0.81
R6823:Zfp788	UTSW	7	41,298,984 (GRCm39)	missense	probably damaging	1.00
R6974:Zfp788	UTSW	7	41,299,301 (GRCm39)	nonsense	probably null
R7497:Zfp788	UTSW	7	41,298,275 (GRCm39)	missense	possibly damaging	0.92
R7930:Zfp788	UTSW	7	41,299,049 (GRCm39)	nonsense	probably null
R7979:Zfp788	UTSW	7	41,284,324 (GRCm39)	critical splice donor site	probably null
R8178:Zfp788	UTSW	7	41,298,335 (GRCm39)	missense	probably damaging	1.00
R8193:Zfp788	UTSW	7	41,298,038 (GRCm39)	missense	probably benign	0.35
R8195:Zfp788	UTSW	7	41,298,801 (GRCm39)	missense	probably benign	0.01
R8699:Zfp788	UTSW	7	41,297,840 (GRCm39)	missense	probably benign	0.13
R8964:Zfp788	UTSW	7	41,297,003 (GRCm39)	missense	probably damaging	1.00
R9037:Zfp788	UTSW	7	41,298,315 (GRCm39)	missense	probably damaging	0.99
R9122:Zfp788	UTSW	7	41,299,919 (GRCm39)	nonsense	probably null
R9133:Zfp788	UTSW	7	41,299,484 (GRCm39)	missense
R9256:Zfp788	UTSW	7	41,299,638 (GRCm39)	missense	probably benign	0.03
R9372:Zfp788	UTSW	7	41,299,708 (GRCm39)	nonsense	probably null
R9570:Zfp788	UTSW	7	41,300,006 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- CTGTAGCCTATCTGTACACGAG -3'
(R):5'- AATGGTTTGCAATCAAGGGGAC -3'

Sequencing Primer
(F):5'- GCCTATCTGTACACGAGATAAAATG -3'
(R):5'- ATGAAACCTCTGCCTCTATATGGAC -3'

Posted On

2015-09-24