Mutagenetix > Incidental Mutation

Incidental Mutation 'R6312:Zfp790'

509814

Institutional Source

Beutler Lab

Gene Symbol

Zfp790

Ensembl Gene

ENSMUSG00000011427

Gene Name

zinc finger protein 790

Synonyms

6330581L23Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R6312 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29816114-29831005 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 29828222 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 111 (G111W)

Ref Sequence

ENSEMBL: ENSMUSP00000136932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032796] [ENSMUST00000178162]

AlphaFold

Q80ZX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000032796
AA Change: G111W

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

SMART Domains

Protein: ENSMUSP00000032796
Gene: ENSMUSG00000011427
AA Change: G111W

Domain	Start	End	E-Value	Type
KRAB	5	65	3e-27	SMART
ZnF_C2H2	224	246	2.95e-3	SMART
ZnF_C2H2	252	274	2.53e-2	SMART
ZnF_C2H2	280	302	5.5e-3	SMART
ZnF_C2H2	308	330	2.75e-3	SMART
ZnF_C2H2	336	358	2.12e-4	SMART
ZnF_C2H2	364	386	1.03e-2	SMART
Pfam:zf-C2H2_6	391	403	2.4e-1	PFAM
ZnF_C2H2	448	470	9.56e1	SMART
ZnF_C2H2	476	498	7.26e-3	SMART
ZnF_C2H2	504	526	2.57e-3	SMART
ZnF_C2H2	532	554	6.42e-4	SMART
ZnF_C2H2	640	662	1.12e-3	SMART
ZnF_C2H2	668	690	2.12e-4	SMART
ZnF_C2H2	696	718	1.98e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178162
AA Change: G111W

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

SMART Domains

Protein: ENSMUSP00000136932
Gene: ENSMUSG00000011427
AA Change: G111W

Domain	Start	End	E-Value	Type
KRAB	5	65	3e-27	SMART
ZnF_C2H2	224	246	2.95e-3	SMART
ZnF_C2H2	252	274	2.53e-2	SMART
ZnF_C2H2	280	302	5.5e-3	SMART
ZnF_C2H2	308	330	2.75e-3	SMART
ZnF_C2H2	336	358	2.12e-4	SMART
ZnF_C2H2	364	386	1.03e-2	SMART
ZnF_C2H2	448	470	9.56e1	SMART
ZnF_C2H2	476	498	7.26e-3	SMART
ZnF_C2H2	504	526	2.57e-3	SMART
ZnF_C2H2	532	554	6.42e-4	SMART
ZnF_C2H2	640	662	1.12e-3	SMART
ZnF_C2H2	668	690	2.12e-4	SMART
ZnF_C2H2	696	718	1.98e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,889,767	S472P	possibly damaging	Het
9430007A20Rik	A	T	4: 144,528,502	H164L	probably benign	Het
Abraxas2	G	A	7: 132,874,965	A145T	probably damaging	Het
AC153874.1	T	A	10: 77,847,127		probably benign	Het
Acadvl	T	A	11: 70,011,767	M375L	probably damaging	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Arl4d	T	C	11: 101,667,253	*202R	probably null	Het
B3gat2	G	T	1: 23,815,467	E83*	probably null	Het
BC017158	T	C	7: 128,273,543	K411R	probably benign	Het
Bmper	C	A	9: 23,406,791	Q569K	possibly damaging	Het
C2cd4d	C	A	3: 94,364,435	P336H	probably damaging	Het
Cct2	A	T	10: 117,056,055	S363T	probably benign	Het
Cers5	A	G	15: 99,747,115	V119A	probably benign	Het
Cfhr2	C	T	1: 139,831,079	V78I	possibly damaging	Het
Crocc2	A	T	1: 93,215,710	K1345*	probably null	Het
Cyp4f39	T	C	17: 32,483,294	M255T	probably benign	Het
Dpp6	A	T	5: 27,725,671	I834F	possibly damaging	Het
Dpy19l4	T	A	4: 11,289,671	K205*	probably null	Het
Epg5	T	A	18: 77,979,211	D1056E	possibly damaging	Het
Fam20a	A	C	11: 109,674,630	C452G	probably damaging	Het
Gnai2	A	T	9: 107,635,117	V34E	probably damaging	Het
Gng3	A	G	19: 8,838,633	V7A	probably benign	Het
Hdc	A	G	2: 126,607,406	V77A	possibly damaging	Het
Hint1	G	A	11: 54,869,990	C85Y	probably benign	Het
Kif17	C	T	4: 138,288,193	S551L	probably benign	Het
Lgr5	A	G	10: 115,452,924	L581P	probably damaging	Het
Lig4	G	T	8: 9,971,739	N680K	probably benign	Het
Lipi	T	A	16: 75,573,915	Y138F	probably damaging	Het
Lrp2	C	T	2: 69,436,681	G4294E	probably damaging	Het
Lrrc7	A	G	3: 158,160,609	M1165T	probably benign	Het
Mtpap	T	C	18: 4,396,175	I489T	possibly damaging	Het
Nlrp1b	T	A	11: 71,228,397	N24I	probably benign	Het
Nlrp4a	A	G	7: 26,449,396	T143A	probably benign	Het
Nudt2	A	G	4: 41,480,386	T90A	probably benign	Het
Olfr1055	A	T	2: 86,347,581	F62I	probably damaging	Het
Olfr352	A	T	2: 36,870,465	I300L	probably benign	Het
Olfr659	T	A	7: 104,671,589	Y296N	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Olfr883	TTGCTGT	TTGCTGTCTGCTGT	9: 38,026,541		probably null	Het
Olfr883	GTTT	GTTTGCTGTTTT	9: 38,026,546		probably null	Het
Olfr883	TTT	TTTGCTGATT	9: 38,026,547		probably null	Het
Olfr883	T	TGCTGTTC	9: 38,026,549		probably null	Het
Osmr	A	G	15: 6,823,638	V592A	probably damaging	Het
Rbp2	G	T	9: 98,490,647	S13I	probably benign	Het
Rsf1	A	AGGGCGACGG	7: 97,579,904		probably null	Het
Slc6a7	A	G	18: 61,002,385	S381P	probably benign	Het
Slitrk6	A	G	14: 110,750,247	L676P	probably benign	Het
Sspo	T	C	6: 48,457,366		probably null	Het
Tectb	CT	C	19: 55,192,662		probably null	Homo
Tma16	T	C	8: 66,481,466	E79G	probably damaging	Het
Trim14	G	T	4: 46,507,257	H320N	probably damaging	Het
Trim63	A	G	4: 134,325,697	D323G	probably damaging	Het
Vash2	C	A	1: 190,958,683	R309L	probably benign	Het
Vmn1r62	G	A	7: 5,676,084	V255M	possibly damaging	Het
Vmn2r53	T	A	7: 12,598,639		probably null	Het
Zfp382	G	A	7: 30,134,538	R538H	probably damaging	Het
Zfp592	T	A	7: 81,023,436	D49E	probably benign	Het
Zfp60	T	C	7: 27,748,776	C290R	probably damaging	Het
Zfp69	G	A	4: 120,949,517		probably benign	Het
Zfp948	T	C	17: 21,587,167	I207T	possibly damaging	Het

Other mutations in Zfp790

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Zfp790	APN	7	29828563	missense	probably benign	0.32
IGL00979:Zfp790	APN	7	29829609	missense	probably benign	0.00
IGL02286:Zfp790	APN	7	29829735	missense	possibly damaging	0.53
IGL03136:Zfp790	APN	7	29829895	nonsense	probably null
R0021:Zfp790	UTSW	7	29825688	unclassified	probably benign
R0077:Zfp790	UTSW	7	29824875	missense	probably damaging	0.98
R1477:Zfp790	UTSW	7	29823100	start gained	probably benign
R1572:Zfp790	UTSW	7	29828139	missense	probably benign	0.33
R2015:Zfp790	UTSW	7	29828861	missense	probably benign	0.29
R4941:Zfp790	UTSW	7	29829491	missense	possibly damaging	0.83
R5019:Zfp790	UTSW	7	29829767	missense	probably benign	0.00
R5159:Zfp790	UTSW	7	29829767	missense	probably benign	0.00
R5160:Zfp790	UTSW	7	29829767	missense	probably benign	0.00
R5722:Zfp790	UTSW	7	29830089	nonsense	probably null
R5954:Zfp790	UTSW	7	29829504	missense	probably damaging	1.00
R6025:Zfp790	UTSW	7	29829545	missense	possibly damaging	0.71
R7392:Zfp790	UTSW	7	29828625	missense	possibly damaging	0.52
R7623:Zfp790	UTSW	7	29825705	nonsense	probably null
R8036:Zfp790	UTSW	7	29828921	missense	possibly damaging	0.92
R8175:Zfp790	UTSW	7	29829780	missense	possibly damaging	0.96
R8898:Zfp790	UTSW	7	29823100	start gained	probably benign
R8988:Zfp790	UTSW	7	29828168	missense	probably benign
R9176:Zfp790	UTSW	7	29829962	missense	probably benign	0.04
R9404:Zfp790	UTSW	7	29825760	missense	probably benign
R9519:Zfp790	UTSW	7	29823142	missense	unknown
Z1186:Zfp790	UTSW	7	29829684	missense	possibly damaging	0.53
Z1186:Zfp790	UTSW	7	29829783	missense	possibly damaging	0.72
Z1186:Zfp790	UTSW	7	29829833	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CTCATGAGCTTCACTTTAACCG -3'
(R):5'- GGGCTCTGGTGCAAAACTAAAG -3'

Sequencing Primer
(F):5'- ACTTTAACCGTAGCTTTTGGTAGC -3'
(R):5'- GGTGCAAAACTAAAGGATTTTTCCG -3'

Posted On

2018-04-02