Mutagenetix > Incidental Mutation

Incidental Mutation 'R9251:Zfp628'

701548

Institutional Source

Beutler Lab

Gene Symbol

Zfp628

Ensembl Gene

ENSMUSG00000074406

Gene Name

zinc finger protein 628

Synonyms

Zec

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.731) question?

Stock #

R9251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4918216-4925001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4923880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 701 (S701P)

Ref Sequence

ENSEMBL: ENSMUSP00000112058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047309] [ENSMUST00000057612] [ENSMUST00000116354] [ENSMUST00000207506] [ENSMUST00000207527] [ENSMUST00000207687] [ENSMUST00000208754]

AlphaFold

Q8CJ78

Predicted Effect

probably benign
Transcript: ENSMUST00000047309

SMART Domains

Protein: ENSMUSP00000045354
Gene: ENSMUSG00000035285

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
low complexity region	88	97	N/A	INTRINSIC
Pfam:Acetyltransf_1	101	186	4.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057612

SMART Domains

Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
SR	20	120	4.44e-49	SMART
low complexity region	141	155	N/A	INTRINSIC
low complexity region	167	182	N/A	INTRINSIC
SR	199	299	2.36e-53	SMART
SR	305	405	8.22e-53	SMART
low complexity region	437	462	N/A	INTRINSIC
SR	464	565	1.11e-49	SMART
low complexity region	741	755	N/A	INTRINSIC
SR	758	858	3.93e-50	SMART
low complexity region	936	957	N/A	INTRINSIC
low complexity region	981	1004	N/A	INTRINSIC
low complexity region	1018	1035	N/A	INTRINSIC
low complexity region	1218	1230	N/A	INTRINSIC
low complexity region	1357	1364	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000116354
AA Change: S701P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112058
Gene: ENSMUSG00000074406
AA Change: S701P

Domain	Start	End	E-Value	Type
low complexity region	13	32	N/A	INTRINSIC
ZnF_C2H2	34	56	1.04e-3	SMART
ZnF_C2H2	62	84	2.4e-3	SMART
ZnF_C2H2	90	112	2.09e-3	SMART
ZnF_C2H2	118	140	1.56e-2	SMART
ZnF_C2H2	146	168	3.69e-4	SMART
ZnF_C2H2	174	196	7.49e-5	SMART
ZnF_C2H2	202	224	1.69e-3	SMART
low complexity region	225	238	N/A	INTRINSIC
low complexity region	255	275	N/A	INTRINSIC
ZnF_C2H2	289	309	1.38e2	SMART
low complexity region	334	344	N/A	INTRINSIC
ZnF_C2H2	346	368	1.76e-1	SMART
ZnF_C2H2	376	398	9.3e-1	SMART
low complexity region	422	440	N/A	INTRINSIC
ZnF_C2H2	446	468	2.75e-3	SMART
ZnF_C2H2	474	496	1.69e-3	SMART
ZnF_C2H2	502	524	1.45e-2	SMART
ZnF_C2H2	530	552	1.03e-2	SMART
ZnF_C2H2	558	580	3.44e-4	SMART
ZnF_C2H2	586	608	2.61e-4	SMART
ZnF_C2H2	614	636	7.9e-4	SMART
low complexity region	685	703	N/A	INTRINSIC
low complexity region	716	756	N/A	INTRINSIC
low complexity region	770	792	N/A	INTRINSIC
low complexity region	981	1000	N/A	INTRINSIC
low complexity region	1001	1018	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207506

Predicted Effect

probably benign
Transcript: ENSMUST00000207527

Predicted Effect

probably benign
Transcript: ENSMUST00000207687

Predicted Effect

probably benign
Transcript: ENSMUST00000208754

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	G	T	16: 38,423,218 (GRCm39)	N949K	probably benign	Het
Arv1	T	A	8: 125,452,062 (GRCm39)	I76N	probably damaging	Het
Cfap44	G	A	16: 44,229,276 (GRCm39)	A189T	probably damaging	Het
Ch25h	T	C	19: 34,451,769 (GRCm39)	Y253C	probably damaging	Het
Cnot11	T	C	1: 39,581,587 (GRCm39)	M376T	probably damaging	Het
Cnot7	T	C	8: 40,964,622 (GRCm39)		probably benign	Het
Dnah17	G	A	11: 118,012,618 (GRCm39)	S481F	probably benign	Het
Dnah2	C	T	11: 69,406,619 (GRCm39)	R541Q	probably damaging	Het
Dnah7a	C	T	1: 53,621,671 (GRCm39)	M1151I	probably damaging	Het
Dpf2	T	C	19: 5,957,166 (GRCm39)	D19G	probably damaging	Het
Eefsec	A	T	6: 88,332,574 (GRCm39)	M212K	probably damaging	Het
Elp6	G	A	9: 110,134,666 (GRCm39)	V12I	unknown	Het
Enox1	G	A	14: 77,852,997 (GRCm39)		probably null	Het
Epha1	G	T	6: 42,341,777 (GRCm39)	N424K	probably damaging	Het
Fam171a1	T	C	2: 3,226,525 (GRCm39)	S553P	probably benign	Het
Fbxw21	A	G	9: 108,974,687 (GRCm39)	S278P	probably damaging	Het
Gm45861	T	C	8: 28,032,589 (GRCm39)		probably null	Het
Gm4846	T	A	1: 166,311,307 (GRCm39)	R517S	probably benign	Het
Gnrhr	A	G	5: 86,345,221 (GRCm39)	L155P	possibly damaging	Het
Igfn1	C	T	1: 135,894,409 (GRCm39)		probably benign	Het
Ik	T	A	18: 36,880,495 (GRCm39)		probably null	Het
Insrr	A	T	3: 87,717,391 (GRCm39)	Q763L	probably benign	Het
Klf5	G	T	14: 99,538,824 (GRCm39)	C79F	possibly damaging	Het
Lrrcc1	A	T	3: 14,623,454 (GRCm39)	R760S	probably damaging	Het
Map3k7	T	A	4: 32,002,080 (GRCm39)		probably benign	Het
Mapkbp1	C	T	2: 119,853,671 (GRCm39)	A1159V	probably benign	Het
Mgst3	C	T	1: 167,205,860 (GRCm39)		probably null	Het
Mtch2	T	A	2: 90,679,980 (GRCm39)	F71I	probably damaging	Het
Myo1e	A	G	9: 70,276,076 (GRCm39)	I764V	probably benign	Het
Myo3b	T	A	2: 70,088,425 (GRCm39)	L896*	probably null	Het
Ndufs5	T	G	4: 123,606,628 (GRCm39)	E103A	probably benign	Het
Nfe2l1	G	A	11: 96,710,421 (GRCm39)	P603S	probably damaging	Het
Or6c211	T	A	10: 129,505,980 (GRCm39)	N136I	possibly damaging	Het
Or8g34	A	T	9: 39,373,668 (GRCm39)	M311L	probably benign	Het
Piezo1	T	C	8: 123,219,354 (GRCm39)	N1093S		Het
Pitpnb	G	A	5: 111,533,390 (GRCm39)	R258H	probably benign	Het
Pla2g4d	T	C	2: 120,099,378 (GRCm39)	E708G	possibly damaging	Het
Plppr4	T	A	3: 117,115,608 (GRCm39)	T750S	probably benign	Het
Prrg4	T	G	2: 104,675,399 (GRCm39)	E68A	probably damaging	Het
Rcan2	C	T	17: 44,328,701 (GRCm39)	T90M	possibly damaging	Het
Rlbp1	T	C	7: 79,027,093 (GRCm39)	E189G	probably damaging	Het
Satb1	A	G	17: 52,112,293 (GRCm39)	F107S	probably damaging	Het
Sdc3	A	T	4: 130,548,513 (GRCm39)		probably benign	Het
Slc22a3	A	T	17: 12,726,093 (GRCm39)	V40D	probably damaging	Het
Slc35d1	A	G	4: 103,048,027 (GRCm39)		probably null	Het
Slfn1	T	C	11: 83,012,121 (GRCm39)	F79S	probably damaging	Het
Snrpg	G	T	6: 86,353,557 (GRCm39)	V46L	probably benign	Het
Tbl1xr1	G	A	3: 22,264,569 (GRCm39)	C508Y	probably benign	Het
Thada	A	T	17: 84,538,564 (GRCm39)	D1481E	probably benign	Het
Tnfsf8	A	G	4: 63,779,217 (GRCm39)	V27A	probably benign	Het
Tns1	T	C	1: 74,030,855 (GRCm39)	H300R	probably damaging	Het
Ttc13	C	A	8: 125,401,992 (GRCm39)	G589V	probably benign	Het
Ttc28	A	G	5: 111,040,698 (GRCm39)	I29V	possibly damaging	Het
Tubb4a	T	A	17: 57,387,778 (GRCm39)	N416I	possibly damaging	Het
Ubr4	T	A	4: 139,177,636 (GRCm39)	I1884N		Het
Usp16	A	G	16: 87,266,640 (GRCm39)	K175E	probably benign	Het
Usp24	A	G	4: 106,217,715 (GRCm39)	I479M	probably benign	Het
Utrn	T	C	10: 12,512,531 (GRCm39)	T2313A	probably benign	Het
Ythdc2	T	C	18: 44,974,442 (GRCm39)	V368A	probably benign	Het

Other mutations in Zfp628

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00849:Zfp628	APN	7	4,923,805 (GRCm39)	missense	probably damaging	1.00
R0107:Zfp628	UTSW	7	4,923,167 (GRCm39)	missense	probably damaging	1.00
R0110:Zfp628	UTSW	7	4,922,732 (GRCm39)	missense	probably benign
R0450:Zfp628	UTSW	7	4,922,732 (GRCm39)	missense	probably benign
R0469:Zfp628	UTSW	7	4,922,732 (GRCm39)	missense	probably benign
R0480:Zfp628	UTSW	7	4,924,615 (GRCm39)	missense	probably benign	0.00
R0518:Zfp628	UTSW	7	4,922,939 (GRCm39)	missense	probably damaging	0.97
R0521:Zfp628	UTSW	7	4,922,939 (GRCm39)	missense	probably damaging	0.97
R1081:Zfp628	UTSW	7	4,923,182 (GRCm39)	missense	probably damaging	1.00
R1846:Zfp628	UTSW	7	4,923,866 (GRCm39)	missense	possibly damaging	0.52
R1938:Zfp628	UTSW	7	4,923,767 (GRCm39)	missense	probably benign	0.00
R1997:Zfp628	UTSW	7	4,921,831 (GRCm39)	missense	probably damaging	0.98
R2221:Zfp628	UTSW	7	4,923,830 (GRCm39)	missense	probably benign	0.00
R2364:Zfp628	UTSW	7	4,923,686 (GRCm39)	missense	probably damaging	1.00
R3077:Zfp628	UTSW	7	4,924,199 (GRCm39)	missense	possibly damaging	0.88
R3964:Zfp628	UTSW	7	4,924,744 (GRCm39)	missense	probably benign	0.00
R3966:Zfp628	UTSW	7	4,924,744 (GRCm39)	missense	probably benign	0.00
R6058:Zfp628	UTSW	7	4,923,917 (GRCm39)	missense	probably damaging	1.00
R6240:Zfp628	UTSW	7	4,922,848 (GRCm39)	missense	possibly damaging	0.93
R6516:Zfp628	UTSW	7	4,923,201 (GRCm39)	nonsense	probably null
R6962:Zfp628	UTSW	7	4,922,549 (GRCm39)	missense	probably benign	0.03
R7180:Zfp628	UTSW	7	4,924,063 (GRCm39)	missense	probably benign	0.18
R7347:Zfp628	UTSW	7	4,924,817 (GRCm39)	missense	probably damaging	0.99
R7348:Zfp628	UTSW	7	4,924,817 (GRCm39)	missense	probably damaging	0.99
R7349:Zfp628	UTSW	7	4,924,817 (GRCm39)	missense	probably damaging	0.99
R8016:Zfp628	UTSW	7	4,922,228 (GRCm39)	missense	probably damaging	1.00
R8074:Zfp628	UTSW	7	4,923,205 (GRCm39)	missense	probably damaging	1.00
R8161:Zfp628	UTSW	7	4,921,958 (GRCm39)	missense	probably damaging	1.00
R8328:Zfp628	UTSW	7	4,922,813 (GRCm39)	missense	probably benign
R9116:Zfp628	UTSW	7	4,924,202 (GRCm39)	missense	probably benign	0.06
R9158:Zfp628	UTSW	7	4,922,153 (GRCm39)	missense	probably damaging	1.00
R9313:Zfp628	UTSW	7	4,922,549 (GRCm39)	missense	probably benign
RF018:Zfp628	UTSW	7	4,923,948 (GRCm39)	unclassified	probably benign
X0022:Zfp628	UTSW	7	4,922,408 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTATGGCTGCCTACCTGC -3'
(R):5'- TGTCCAGCTTTCCCAACAGAC -3'

Sequencing Primer
(F):5'- GCATCTGAGGACGCACAC -3'
(R):5'- TTTCCCAACAGACCGAGGG -3'

Posted On

2022-03-25