Mutagenetix > Incidental Mutation

Incidental Mutation 'R6516:Zfp628'

520701

Institutional Source

Beutler Lab

Gene Symbol

Zfp628

Ensembl Gene

ENSMUSG00000074406

Gene Name

zinc finger protein 628

Synonyms

Zec

MMRRC Submission

044643-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.656) question?

Stock #

R6516 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4918216-4925001 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to G at 4923201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 474 (Y474*)

Ref Sequence

ENSEMBL: ENSMUSP00000112058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047309] [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 null
Transcript: ENSMUST00000116354
AA Change: Y474*

SMART Domains

Protein: ENSMUSP00000112058
Gene: ENSMUSG00000074406
AA Change: Y474*

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

Meta Mutation Damage Score

0.9707

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	A	T	1: 161,780,235 (GRCm39)	V93E	probably benign	Het
Adam18	A	G	8: 25,164,703 (GRCm39)	L4P	probably damaging	Het
Adcy8	A	T	15: 64,571,236 (GRCm39)	Y1136N	probably damaging	Het
Adgrl3	A	G	5: 81,613,119 (GRCm39)	Y184C	probably damaging	Het
Ankrd6	G	A	4: 32,836,427 (GRCm39)	R43W	probably damaging	Het
Ano8	G	T	8: 71,934,424 (GRCm39)		probably null	Het
Arhgap31	A	G	16: 38,429,766 (GRCm39)	F370L	possibly damaging	Het
C7	A	G	15: 5,086,563 (GRCm39)	V26A	probably damaging	Het
Cimap1a	G	A	7: 140,428,718 (GRCm39)	G128S	probably damaging	Het
Clec4a2	C	A	6: 123,116,365 (GRCm39)	Q153K	probably damaging	Het
Cyp2c67	T	A	19: 39,605,873 (GRCm39)	D341V	probably damaging	Het
Ddo	T	A	10: 40,507,741 (GRCm39)	V46E	probably damaging	Het
Deup1	A	C	9: 15,521,910 (GRCm39)	M85R	probably damaging	Het
Dmxl2	A	T	9: 54,323,960 (GRCm39)	S1141R	probably damaging	Het
Dnah2	A	G	11: 69,356,212 (GRCm39)	F2147L	probably benign	Het
Dock10	T	C	1: 80,518,178 (GRCm39)	E1298G	probably damaging	Het
Dock4	T	A	12: 40,781,898 (GRCm39)	V701E	possibly damaging	Het
Dthd1	A	T	5: 62,996,607 (GRCm39)	K447N	probably benign	Het
Eno2	G	T	6: 124,738,672 (GRCm39)		probably null	Het
Fastkd5	T	A	2: 130,456,221 (GRCm39)	T790S	possibly damaging	Het
Fer1l4	C	T	2: 155,877,119 (GRCm39)	V1139M	probably damaging	Het
Gpbp1	A	T	13: 111,589,636 (GRCm39)	H111Q	probably benign	Het
Grk3	A	T	5: 113,109,415 (GRCm39)		probably benign	Het
Itpr3	C	T	17: 27,310,344 (GRCm39)	A403V	probably benign	Het
Kcnc2	A	G	10: 112,297,905 (GRCm39)	T610A	probably benign	Het
Kcnh1	T	A	1: 192,101,089 (GRCm39)	D560E	possibly damaging	Het
Klc4	A	T	17: 46,953,181 (GRCm39)	N116K	probably damaging	Het
Krba1	C	T	6: 48,390,206 (GRCm39)	Q656*	probably null	Het
Mchr1	A	G	15: 81,122,069 (GRCm39)	Y273C	probably damaging	Het
Myh15	T	A	16: 48,957,996 (GRCm39)	C938S	probably benign	Het
Nutm1	T	C	2: 112,081,562 (GRCm39)	E367G	probably damaging	Het
Or10a3n	A	T	7: 108,492,972 (GRCm39)	I214K	probably damaging	Het
Or4e2	A	T	14: 52,688,586 (GRCm39)	T239S	probably damaging	Het
Or5w18	A	T	2: 87,633,114 (GRCm39)	Y127F	possibly damaging	Het
Or8b48	A	G	9: 38,492,768 (GRCm39)	N65S	probably damaging	Het
Pikfyve	G	T	1: 65,304,940 (GRCm39)	M1697I	probably benign	Het
Plcd1	A	G	9: 118,905,271 (GRCm39)	S147P	probably damaging	Het
Plin3	G	A	17: 56,593,223 (GRCm39)	P113L	probably damaging	Het
Pum3	C	A	19: 27,403,408 (GRCm39)	S31I	probably benign	Het
Robo1	T	C	16: 72,821,241 (GRCm39)	V1327A	probably benign	Het
Rpl15-ps6	A	G	15: 52,341,200 (GRCm39)		noncoding transcript	Het
Rpl34	G	A	3: 130,522,716 (GRCm39)	P50L	probably benign	Het
Scnn1b	T	C	7: 121,511,335 (GRCm39)	S341P	probably damaging	Het
Sh3bp5	A	T	14: 31,097,629 (GRCm39)	M362K	possibly damaging	Het
Slc24a5	A	G	2: 124,930,027 (GRCm39)	T443A	probably benign	Het
Slc25a12	T	C	2: 71,154,427 (GRCm39)	Y81C	probably damaging	Het
Slc43a3	A	G	2: 84,788,105 (GRCm39)	T496A	probably benign	Het
Smap2	C	T	4: 120,840,303 (GRCm39)		probably null	Het
Sptbn5	T	A	2: 119,878,431 (GRCm39)		probably benign	Het
Taar5	A	G	10: 23,847,564 (GRCm39)	S321G	possibly damaging	Het
Tbx21	T	C	11: 96,990,782 (GRCm39)	I299V	possibly damaging	Het
Tcerg1	T	C	18: 42,663,957 (GRCm39)		probably null	Het
Tenm3	G	C	8: 48,870,257 (GRCm39)	Q179E	probably benign	Het
Tmem176a	T	G	6: 48,821,002 (GRCm39)		probably null	Het
Tmem236	T	C	2: 14,200,791 (GRCm39)	S119P	probably benign	Het
Tmprss11a	C	T	5: 86,567,987 (GRCm39)	V247M	probably damaging	Het
Tnks1bp1	T	C	2: 84,901,071 (GRCm39)	S1593P	probably damaging	Het
Ttc9b	T	A	7: 27,355,412 (GRCm39)	D227E	probably benign	Het
Usp33	A	C	3: 152,079,053 (GRCm39)	Q435P	probably benign	Het
Vti1a	C	T	19: 55,369,390 (GRCm39)	A94V	probably damaging	Het
Wdr3	A	G	3: 100,052,992 (GRCm39)	Y587H	probably damaging	Het
Wwc1	G	A	11: 35,758,129 (GRCm39)	A739V	probably benign	Het
Zfp820	A	T	17: 22,038,354 (GRCm39)	C325S	probably damaging	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
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
R9251:Zfp628	UTSW	7	4,923,880 (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'- ATGGTGCCTTCCCACAACTG -3'
(R):5'- AAGTGTTACGGAAGGCTTTGC -3'

Sequencing Primer
(F):5'- ACAACTGGCCAGCCTCTTG -3'
(R):5'- CACACTCAGTGCAGGCATAGG -3'

Posted On

2018-06-06