Mutagenetix > Incidental Mutation

Incidental Mutation 'R7349:Zfp628'

570417

Institutional Source

Beutler Lab

Gene Symbol

Zfp628

Ensembl Gene

ENSMUSG00000074406

Gene Name

zinc finger protein 628

Synonyms

Zec

MMRRC Submission

045435-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.656) question?

Stock #

R7349 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4918216-4925001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4924817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 1013 (G1013E)

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: G1013E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112058
Gene: ENSMUSG00000074406
AA Change: G1013E

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 60,990,717 (GRCm39)	T326S	possibly damaging	Het
Acly	A	T	11: 100,412,817 (GRCm39)	H91Q	probably benign	Het
Acp3	T	A	9: 104,168,657 (GRCm39)	I403F	probably benign	Het
Angpt2	T	A	8: 18,742,090 (GRCm39)	M489L	probably damaging	Het
Arap1	T	C	7: 101,039,435 (GRCm39)	I565T	possibly damaging	Het
Atg16l2	T	C	7: 100,939,473 (GRCm39)	D563G	probably damaging	Het
Atp6v0a2	T	A	5: 124,789,392 (GRCm39)	Y386*	probably null	Het
Atp8b4	A	G	2: 126,167,265 (GRCm39)	V1078A	probably benign	Het
Bsn	T	C	9: 107,987,982 (GRCm39)	D2590G	unknown	Het
Casp12	T	C	9: 5,345,527 (GRCm39)		probably null	Het
Ccdc87	T	C	19: 4,891,868 (GRCm39)	S787P	probably damaging	Het
Cdh13	A	G	8: 119,969,097 (GRCm39)	T485A	probably damaging	Het
Cstdc5	A	G	16: 36,184,674 (GRCm39)	V23A	probably damaging	Het
Dip2a	T	C	10: 76,121,426 (GRCm39)	H810R	probably damaging	Het
Dmbt1	A	T	7: 130,642,854 (GRCm39)	Y120F	unknown	Het
Dmgdh	C	T	13: 93,888,741 (GRCm39)	T793I	possibly damaging	Het
Dnhd1	A	G	7: 105,359,330 (GRCm39)	D3555G	probably damaging	Het
Eif4e1b	T	C	13: 54,932,006 (GRCm39)	V30A	probably benign	Het
Ercc5	T	G	1: 44,220,068 (GRCm39)	D1113E	possibly damaging	Het
Fbn1	T	C	2: 125,157,321 (GRCm39)	N2321D	possibly damaging	Het
Fbrs	T	C	7: 127,081,971 (GRCm39)	L237P	probably damaging	Het
Flg2	T	A	3: 93,127,513 (GRCm39)	S2142T	unknown	Het
Ftsj3	G	A	11: 106,140,572 (GRCm39)	T761I	probably damaging	Het
Gdi2	C	A	13: 3,606,395 (GRCm39)	T157N	probably benign	Het
Gm8122	C	A	14: 43,088,058 (GRCm39)		probably null	Het
Gtpbp10	T	C	5: 5,605,379 (GRCm39)	E108G	possibly damaging	Het
Hectd4	T	C	5: 121,448,726 (GRCm39)	L358P	probably damaging	Het
Herc3	T	C	6: 58,835,971 (GRCm39)	C271R	probably benign	Het
Hspb1	C	T	5: 135,918,187 (GRCm39)	T178M	possibly damaging	Het
Htr3b	C	T	9: 48,847,319 (GRCm39)	V399M	probably benign	Het
Hydin	A	G	8: 111,124,803 (GRCm39)		probably null	Het
Itpr3	T	A	17: 27,326,786 (GRCm39)		probably null	Het
Iyd	G	T	10: 3,495,638 (GRCm39)	V99F	possibly damaging	Het
Lrrc36	G	A	8: 106,178,900 (GRCm39)	G365D	probably damaging	Het
Map1b	T	A	13: 99,570,148 (GRCm39)	I858F	unknown	Het
Med12l	A	T	3: 59,165,746 (GRCm39)	D1488V	probably damaging	Het
Ms4a6c	T	A	19: 11,455,555 (GRCm39)	N121K	probably damaging	Het
Nlrp1b	T	G	11: 71,072,943 (GRCm39)	Q300P	probably benign	Het
Nlrp3	G	A	11: 59,438,912 (GRCm39)	R163H	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Optc	T	G	1: 133,825,617 (GRCm39)	D356A	probably damaging	Het
Or52h7	A	G	7: 104,213,857 (GRCm39)	H143R	probably benign	Het
Or9s15	T	C	1: 92,524,904 (GRCm39)	V221A	possibly damaging	Het
Pdzd2	C	G	15: 12,399,291 (GRCm39)	V812L	probably damaging	Het
Phlpp2	T	C	8: 110,655,278 (GRCm39)	F691S	probably damaging	Het
Pigk	T	C	3: 152,453,238 (GRCm39)	F319L	probably benign	Het
Pkhd1l1	A	G	15: 44,378,350 (GRCm39)	T1035A	probably damaging	Het
Plekhg3	A	G	12: 76,611,339 (GRCm39)	T261A	probably benign	Het
Plekhm1	A	G	11: 103,278,160 (GRCm39)	F312S	probably damaging	Het
Pms2	T	A	5: 143,862,654 (GRCm39)	I587N	probably benign	Het
Ppl	T	A	16: 4,922,593 (GRCm39)	H272L	probably damaging	Het
Prkce	G	A	17: 86,800,783 (GRCm39)	A400T	probably benign	Het
Ptpn9	T	C	9: 56,951,660 (GRCm39)	S324P	probably benign	Het
Ptprk	A	T	10: 28,468,834 (GRCm39)	N1432I	possibly damaging	Het
R3hdm2	T	C	10: 127,328,515 (GRCm39)	S746P	probably benign	Het
Rnf220	G	A	4: 117,135,015 (GRCm39)	A412V	probably damaging	Het
Scel	G	A	14: 103,781,315 (GRCm39)	A154T	probably benign	Het
Sirpb1a	A	T	3: 15,475,664 (GRCm39)	N290K	probably damaging	Het
Sirpb1c	A	T	3: 15,886,310 (GRCm39)		probably null	Het
Sorbs2	A	T	8: 46,248,860 (GRCm39)	R704*	probably null	Het
Spast	T	C	17: 74,680,319 (GRCm39)	V427A	probably damaging	Het
Stxbp4	A	T	11: 90,482,937 (GRCm39)		probably null	Het
Thsd7a	C	A	6: 12,352,067 (GRCm39)	G1043C		Het
Tmem205	C	T	9: 21,832,410 (GRCm39)	C167Y	probably damaging	Het
Trappc9	A	T	15: 72,608,718 (GRCm39)	L897*	probably null	Het
Trim36	A	G	18: 46,302,495 (GRCm39)	F518L	probably benign	Het
Ttc12	T	G	9: 49,359,267 (GRCm39)	T402P	possibly damaging	Het
Twnk	T	C	19: 44,998,600 (GRCm39)	V506A	possibly damaging	Het
Vmn2r18	A	T	5: 151,485,682 (GRCm39)	L604*	probably null	Het
Wdr83	T	C	8: 85,806,460 (GRCm39)	N113D	possibly 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
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
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'- TTATCATTCGTAGCGCCCCAG -3'
(R):5'- GCTATGCCCATGACTATACCTC -3'

Sequencing Primer
(F):5'- CAGCTACTGATCTGCTAGAAAATAGC -3'
(R):5'- CCAGGAAGAGATTCTGGGTC -3'

Posted On

2019-09-13