Mutagenetix > Incidental Mutation

Incidental Mutation 'R8110:Zfp7'

643809

Institutional Source

Beutler Lab

Gene Symbol

Zfp7

Ensembl Gene

ENSMUSG00000033669

Gene Name

zinc finger protein 7

Synonyms

Zfp86-rs1, Zfp-7, Zfp65, Krox-2, KRAB20, Zfp80, mszf73-2, KRAB7

MMRRC Submission

067539-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8110 (G1)

Quality Score

60.0073

Status

Validated

Chromosome

Chromosomal Location

76763459-76776595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 76775131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 391 (P391R)

Ref Sequence

ENSEMBL: ENSMUSP00000023179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023179] [ENSMUST00000229831] [ENSMUST00000229990] [ENSMUST00000230106] [ENSMUST00000230214]

AlphaFold

Q3TFZ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023179
AA Change: P391R

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023179
Gene: ENSMUSG00000033669
AA Change: P391R

Domain	Start	End	E-Value	Type
KRAB	4	65	3.07e-33	SMART
ZnF_C2H2	192	214	6.88e-4	SMART
ZnF_C2H2	220	242	4.24e-4	SMART
ZnF_C2H2	248	270	2.09e-3	SMART
ZnF_C2H2	276	298	1.45e-2	SMART
ZnF_C2H2	304	326	1.13e-4	SMART
ZnF_C2H2	332	354	9.08e-4	SMART
ZnF_C2H2	360	383	2.24e-3	SMART
ZnF_C2H2	412	434	9.08e-4	SMART
ZnF_C2H2	440	462	1.67e-2	SMART
ZnF_C2H2	468	490	3.44e-4	SMART
ZnF_C2H2	496	518	8.47e-4	SMART
ZnF_C2H2	524	546	4.54e-4	SMART
ZnF_C2H2	552	574	7.9e-4	SMART
ZnF_C2H2	580	602	1.72e-4	SMART
ZnF_C2H2	633	655	1.98e-4	SMART
ZnF_C2H2	661	683	4.79e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229831

Predicted Effect

probably benign
Transcript: ENSMUST00000229990

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230106
AA Change: P391R

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000230214

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 93.1%

Validation Efficiency

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd45	T	C	1: 160,978,889 (GRCm39)		probably null	Het
Appl1	C	A	14: 26,649,751 (GRCm39)	G592*	probably null	Het
Arfgef2	T	A	2: 166,720,464 (GRCm39)	M1501K	probably benign	Het
Calcrl	C	T	2: 84,169,683 (GRCm39)	A333T	probably damaging	Het
Cd200r3	T	A	16: 44,771,835 (GRCm39)	I33N	probably benign	Het
Ceacam15	A	G	7: 16,407,334 (GRCm39)	L61P	probably benign	Het
Cfap69	T	A	5: 5,632,515 (GRCm39)	H827L	possibly damaging	Het
Csmd3	T	A	15: 47,507,666 (GRCm39)	E2780V	probably damaging	Het
Cyp2u1	G	A	3: 131,087,303 (GRCm39)	T426I	probably damaging	Het
Eefsec	A	C	6: 88,353,312 (GRCm39)	I119S	probably damaging	Het
Fem1b	T	C	9: 62,703,550 (GRCm39)	N570S	probably damaging	Het
Fmo9	A	G	1: 166,491,095 (GRCm39)	M461T	probably benign	Het
Fryl	A	G	5: 73,290,620 (GRCm39)	Y95H	probably benign	Het
Fsip2	T	C	2: 82,789,017 (GRCm39)	I346T	probably benign	Het
Fto	T	C	8: 92,211,818 (GRCm39)	F381S	probably damaging	Het
Gabbr1	G	C	17: 37,359,475 (GRCm39)	S150T	probably benign	Het
Galnt9	G	T	5: 110,763,339 (GRCm39)	W448L	probably damaging	Het
Gcnt2	G	T	13: 41,071,198 (GRCm39)		probably benign	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Hectd4	A	G	5: 121,471,012 (GRCm39)	Y2633C	possibly damaging	Het
Hsd11b2	A	G	8: 106,249,266 (GRCm39)	I214V	probably damaging	Het
Hspa12a	T	A	19: 58,809,445 (GRCm39)	E217V	possibly damaging	Het
Itih2	A	G	2: 10,101,948 (GRCm39)	F845L	probably damaging	Het
Kcnn3	T	A	3: 89,568,540 (GRCm39)	L606H	probably damaging	Het
Krt6b	G	A	15: 101,588,577 (GRCm39)	R28C	probably damaging	Het
Lama2	T	A	10: 26,866,866 (GRCm39)	D2876V	probably damaging	Het
Lmbrd2	T	C	15: 9,175,279 (GRCm39)	S397P	probably damaging	Het
Lmf2	C	T	15: 89,236,561 (GRCm39)		probably null	Het
Lrp2	A	G	2: 69,336,797 (GRCm39)	I1325T	probably benign	Het
Ltbp2	A	T	12: 84,850,676 (GRCm39)	C879*	probably null	Het
Map3k1	A	G	13: 111,891,847 (GRCm39)	V1136A	probably damaging	Het
Mettl3	G	T	14: 52,537,709 (GRCm39)	H84N	probably benign	Het
Mia2	A	G	12: 59,155,873 (GRCm39)		probably null	Het
Mlip	G	T	9: 77,146,861 (GRCm39)	T92K	probably damaging	Het
Nalcn	T	A	14: 123,702,113 (GRCm39)	Y466F	probably benign	Het
Nav2	T	A	7: 49,201,698 (GRCm39)	L235*	probably null	Het
Nbn	T	C	4: 15,981,588 (GRCm39)	V560A	probably benign	Het
Ncln	A	T	10: 81,328,987 (GRCm39)	Y144N	possibly damaging	Het
Nfe2l2	A	C	2: 75,509,765 (GRCm39)	D18E	probably benign	Het
Or10aa3	G	A	1: 173,878,091 (GRCm39)	A51T	probably benign	Het
Or12d2	A	G	17: 37,624,604 (GRCm39)	F224L	probably benign	Het
Or1ak2	T	C	2: 36,827,721 (GRCm39)	C197R	possibly damaging	Het
Or5w11	T	C	2: 87,458,951 (GRCm39)	I48T	possibly damaging	Het
Otop3	A	T	11: 115,230,221 (GRCm39)	M33L	probably benign	Het
Pate7	T	C	9: 35,689,329 (GRCm39)	*84W	probably null	Het
Pdzd2	G	A	15: 12,373,592 (GRCm39)	S2181L	probably benign	Het
Phf14	T	C	6: 11,953,422 (GRCm39)	I387T	possibly damaging	Het
Prb1c	C	T	6: 132,338,531 (GRCm39)	G229D	unknown	Het
Prdm9	T	A	17: 15,774,960 (GRCm39)	N318Y	probably damaging	Het
Proca1	A	G	11: 78,095,737 (GRCm39)	D123G	probably damaging	Het
Prune2	G	A	19: 17,098,083 (GRCm39)	G1196S	probably benign	Het
Psd3	T	A	8: 68,573,708 (GRCm39)	S158C	probably damaging	Het
Rps18	A	G	17: 34,174,110 (GRCm39)	V15A	probably benign	Het
Sanbr	G	T	11: 23,526,764 (GRCm39)	T696N	probably benign	Het
Sharpin	C	A	15: 76,231,965 (GRCm39)	R271L	possibly damaging	Het
Smad5	C	A	13: 56,871,701 (GRCm39)	Q99K	probably damaging	Het
Sox5	T	C	6: 144,062,200 (GRCm39)	M151V	possibly damaging	Het
Sphkap	A	T	1: 83,256,492 (GRCm39)	F419Y	possibly damaging	Het
Tbx20	T	A	9: 24,636,821 (GRCm39)	Y422F	probably damaging	Het
Tcirg1	A	C	19: 3,949,099 (GRCm39)	F397V	probably damaging	Het
Tex36	G	A	7: 133,197,012 (GRCm39)	S35F	possibly damaging	Het
Tsen54	G	T	11: 115,705,760 (GRCm39)	A26S	unknown	Het
Usp50	T	A	2: 126,622,250 (GRCm39)		probably null	Het
Vmn2r5	A	T	3: 64,398,709 (GRCm39)	F757I	probably benign	Het
Zbbx	T	C	3: 75,062,749 (GRCm39)	T3A	possibly damaging	Het
Zfp28	T	A	7: 6,392,828 (GRCm39)	M168K	probably benign	Het
Zfp568	G	T	7: 29,722,551 (GRCm39)	G499W	probably damaging	Het

Other mutations in Zfp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00576:Zfp7	APN	15	76,775,101 (GRCm39)	intron	probably benign
IGL01509:Zfp7	APN	15	76,765,333 (GRCm39)	missense	probably damaging	1.00
IGL01694:Zfp7	APN	15	76,774,995 (GRCm39)	nonsense	probably null
IGL01731:Zfp7	APN	15	76,772,505 (GRCm39)	nonsense	probably null
IGL02025:Zfp7	APN	15	76,772,464 (GRCm39)	missense	probably damaging	1.00
R0841:Zfp7	UTSW	15	76,775,704 (GRCm39)	missense	probably damaging	1.00
R1345:Zfp7	UTSW	15	76,774,908 (GRCm39)	missense	probably damaging	1.00
R1625:Zfp7	UTSW	15	76,765,374 (GRCm39)	missense	probably damaging	1.00
R1872:Zfp7	UTSW	15	76,775,977 (GRCm39)	missense	probably benign	0.00
R2330:Zfp7	UTSW	15	76,775,509 (GRCm39)	missense	probably damaging	1.00
R4170:Zfp7	UTSW	15	76,775,818 (GRCm39)	missense	probably benign	0.00
R4795:Zfp7	UTSW	15	76,775,546 (GRCm39)	nonsense	probably null
R4796:Zfp7	UTSW	15	76,775,546 (GRCm39)	nonsense	probably null
R5038:Zfp7	UTSW	15	76,776,010 (GRCm39)	missense	probably benign	0.01
R5277:Zfp7	UTSW	15	76,765,403 (GRCm39)	missense	probably damaging	1.00
R5285:Zfp7	UTSW	15	76,775,422 (GRCm39)	missense	probably damaging	1.00
R5287:Zfp7	UTSW	15	76,775,422 (GRCm39)	missense	probably damaging	1.00
R5445:Zfp7	UTSW	15	76,775,054 (GRCm39)	nonsense	probably null
R5655:Zfp7	UTSW	15	76,775,629 (GRCm39)	missense	probably damaging	1.00
R6320:Zfp7	UTSW	15	76,774,810 (GRCm39)	missense	possibly damaging	0.79
R7063:Zfp7	UTSW	15	76,775,919 (GRCm39)	missense	possibly damaging	0.82
R9058:Zfp7	UTSW	15	76,764,981 (GRCm39)	start codon destroyed	probably null	0.77
R9205:Zfp7	UTSW	15	76,774,800 (GRCm39)	intron	probably benign
R9206:Zfp7	UTSW	15	76,774,800 (GRCm39)	intron	probably benign
R9352:Zfp7	UTSW	15	76,775,674 (GRCm39)	missense	probably damaging	1.00
R9364:Zfp7	UTSW	15	76,774,800 (GRCm39)	intron	probably benign
R9368:Zfp7	UTSW	15	76,774,800 (GRCm39)	intron	probably benign
R9369:Zfp7	UTSW	15	76,774,800 (GRCm39)	intron	probably benign
R9372:Zfp7	UTSW	15	76,774,800 (GRCm39)	intron	probably benign
R9373:Zfp7	UTSW	15	76,774,800 (GRCm39)	intron	probably benign
R9373:Zfp7	UTSW	15	76,774,798 (GRCm39)	intron	probably benign
R9513:Zfp7	UTSW	15	76,775,484 (GRCm39)	missense	probably damaging	1.00
R9515:Zfp7	UTSW	15	76,775,484 (GRCm39)	missense	probably damaging	1.00
R9516:Zfp7	UTSW	15	76,775,484 (GRCm39)	missense	probably damaging	1.00
R9623:Zfp7	UTSW	15	76,774,531 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AAGAGTGCGGGAAAGCCTTC -3'
(R):5'- CTGGAGCTCTGGGTAAAAGC -3'

Sequencing Primer
(F):5'- AAAGCCTTCTGCCAGCG -3'
(R):5'- AGCTCTGGGTAAAAGCTCTCC -3'

Posted On

2020-08-19