Mutagenetix > Incidental Mutation

Incidental Mutation 'R8178:Zfp788'

634479

Institutional Source

Beutler Lab

Gene Symbol

Zfp788

Ensembl Gene

ENSMUSG00000074165

Gene Name

zinc finger protein 788

Synonyms

2810426N06Rik

MMRRC Submission

067603-MU

Accession Numbers

Essential gene?

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

Stock #

R8178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41282955-41300305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41298335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 324 (C324S)

Ref Sequence

ENSEMBL: ENSMUSP00000096108 (fasta)

Gene Model

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

AlphaFold

E9Q980

Predicted Effect

probably damaging
Transcript: ENSMUST00000045720
AA Change: C304S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035499
Gene: ENSMUSG00000074165
AA Change: C304S

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 damaging
Transcript: ENSMUST00000098508
AA Change: C324S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096108
Gene: ENSMUSG00000074165
AA Change: C324S

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 damaging
Transcript: ENSMUST00000100275
AA Change: C272S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097847
Gene: ENSMUSG00000074165
AA Change: C272S

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: C272S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116050
Gene: ENSMUSG00000074165
AA Change: C272S

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 damaging
Transcript: ENSMUST00000170770
AA Change: C272S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132848
Gene: ENSMUSG00000074165
AA Change: C272S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	A	G	17: 79,935,699 (GRCm39)	I276V		Het
Acsm5	C	A	7: 119,141,618 (GRCm39)	H538N	probably damaging	Het
Adamts17	A	G	7: 66,499,464 (GRCm39)	I4V	possibly damaging	Het
Adgrg3	T	C	8: 95,761,675 (GRCm39)	V146A	probably damaging	Het
Ankrd52	T	A	10: 128,225,170 (GRCm39)	L877Q	probably damaging	Het
Aox3	A	T	1: 58,189,481 (GRCm39)	D394V	possibly damaging	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Arhgef4	A	G	1: 34,761,983 (GRCm39)	E413G	unknown	Het
Arhgef5	T	C	6: 43,252,119 (GRCm39)	S957P	probably benign	Het
Arsk	G	T	13: 76,239,861 (GRCm39)	T114K	probably damaging	Het
Bpifb2	T	C	2: 153,733,876 (GRCm39)	V406A	probably damaging	Het
Cbr3	C	A	16: 93,480,393 (GRCm39)	Q61K	probably benign	Het
Ccdc73	C	T	2: 104,821,557 (GRCm39)	S502L	probably benign	Het
Cdhr3	A	T	12: 33,098,931 (GRCm39)		probably null	Het
Cep170b	T	A	12: 112,705,719 (GRCm39)	M1159K	possibly damaging	Het
Cep295	A	T	9: 15,244,836 (GRCm39)	S1159T		Het
Cit	C	T	5: 116,107,131 (GRCm39)	R1088W	probably damaging	Het
Col16a1	A	T	4: 129,947,270 (GRCm39)	H205L	unknown	Het
Cpt1c	T	G	7: 44,609,077 (GRCm39)	H748P	probably damaging	Het
Cstdc4	T	G	16: 36,006,772 (GRCm39)	Y35*	probably null	Het
Dcaf8	A	T	1: 172,013,886 (GRCm39)	D359V	probably benign	Het
Dcstamp	A	G	15: 39,618,422 (GRCm39)	Y277C	probably damaging	Het
Dnah10	A	G	5: 124,832,790 (GRCm39)	K898R	probably benign	Het
Dnah6	T	A	6: 73,037,208 (GRCm39)	T3345S	probably benign	Het
Dpp6	A	T	5: 27,803,815 (GRCm39)	N254Y	probably damaging	Het
F2	A	T	2: 91,460,618 (GRCm39)		probably null	Het
Fam216b	G	C	14: 78,322,504 (GRCm39)	H67D	possibly damaging	Het
Fbxl17	A	C	17: 63,794,967 (GRCm39)		probably null	Het
Gas2	T	A	7: 51,547,026 (GRCm39)	M59K	probably damaging	Het
Glud1	G	A	14: 34,065,664 (GRCm39)	G554D	probably damaging	Het
Gys2	C	T	6: 142,402,138 (GRCm39)	G234R	probably damaging	Het
Ifngr1	A	G	10: 19,485,241 (GRCm39)	I413M	probably benign	Het
Inpp5a	C	T	7: 139,118,153 (GRCm39)	R236C	probably damaging	Het
Kcnip3	A	G	2: 127,323,934 (GRCm39)	S32P	probably benign	Het
Lingo3	T	A	10: 80,670,464 (GRCm39)	T489S	possibly damaging	Het
Lrpprc	A	G	17: 85,079,575 (GRCm39)	L227P	probably damaging	Het
Morn1	A	G	4: 155,213,160 (GRCm39)	Q356R	probably benign	Het
Naxd	A	C	8: 11,561,987 (GRCm39)	K275Q	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nck1	A	T	9: 100,379,790 (GRCm39)	W154R	probably damaging	Het
Or10d5	G	A	9: 39,861,708 (GRCm39)	R120C	probably benign	Het
Or1ad8	T	A	11: 50,898,437 (GRCm39)	C213S	probably damaging	Het
Or5aq6	C	T	2: 86,923,220 (GRCm39)	V174M	possibly damaging	Het
Or7e175	T	C	9: 20,048,571 (GRCm39)	V53A	possibly damaging	Het
Pdxk	C	T	10: 78,289,338 (GRCm39)	V38M	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pes1	T	C	11: 3,927,718 (GRCm39)	S482P	probably benign	Het
Pglyrp1	T	A	7: 18,618,657 (GRCm39)	F3I	unknown	Het
Pira13	T	C	7: 3,824,260 (GRCm39)	K631R	unknown	Het
Plce1	T	A	19: 38,761,423 (GRCm39)	F2092I	possibly damaging	Het
Pms1	A	G	1: 53,246,505 (GRCm39)	S345P	probably benign	Het
Pom121l12	C	A	11: 14,550,011 (GRCm39)	P239H	probably damaging	Het
Prdm2	A	G	4: 142,859,018 (GRCm39)	I1424T	probably benign	Het
Prmt6	A	G	3: 110,158,140 (GRCm39)	Y50H	probably damaging	Het
Rbm39	T	C	2: 155,996,195 (GRCm39)	I397V	probably benign	Het
Rnf157	A	G	11: 116,238,307 (GRCm39)	V519A	possibly damaging	Het
Sec23a	T	C	12: 59,053,980 (GRCm39)	E6G	possibly damaging	Het
Shank1	T	C	7: 43,962,748 (GRCm39)		probably null	Het
Slfn3	A	G	11: 83,105,505 (GRCm39)	I378V	probably benign	Het
Smn1	T	A	13: 100,267,303 (GRCm39)		probably null	Het
Snd1	T	C	6: 28,874,975 (GRCm39)	F632S	possibly damaging	Het
Sun5	T	C	2: 153,698,131 (GRCm39)		probably null	Het
Tial1	T	C	7: 128,046,614 (GRCm39)	R209G	probably benign	Het
Trhde	T	C	10: 114,244,598 (GRCm39)	I963V	possibly damaging	Het
Tssc4	G	T	7: 142,623,932 (GRCm39)	R80L	possibly damaging	Het
Ttn	A	T	2: 76,642,852 (GRCm39)	N13261K	probably damaging	Het
Ugdh	A	T	5: 65,581,005 (GRCm39)		probably null	Het
Vmn1r218	A	T	13: 23,321,472 (GRCm39)	E273V	probably benign	Het
Vmn2r92	T	A	17: 18,386,988 (GRCm39)	F109Y	possibly damaging	Het
Zcchc7	A	G	4: 44,931,398 (GRCm39)	S196G	probably benign	Het
Zfp976	T	C	7: 42,262,959 (GRCm39)	T294A	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
R4579:Zfp788	UTSW	7	41,297,018 (GRCm39)	missense	probably benign	0.00
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
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'- GGGTGCCTACAGTGTGGTAA -3'
(R):5'- ACGAAGGCTTTGCTGCAAAT -3'

Sequencing Primer
(F):5'- CCTACAGTGTGGTAAAGCTTTCAG -3'
(R):5'- TTCATGGACTCGAAGGTCAC -3'

Posted On

2020-07-13