Mutagenetix > Incidental Mutation

Incidental Mutation 'R2221:Zfp628'

241488

Institutional Source

Beutler Lab

Gene Symbol

Zfp628

Ensembl Gene

ENSMUSG00000074406

Gene Name

zinc finger protein 628

Synonyms

Zec

MMRRC Submission

040223-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.656) question?

Stock #

R2221 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4918216-4925001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4923830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 684 (V684A)

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 benign
Transcript: ENSMUST00000116354
AA Change: V684A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112058
Gene: ENSMUSG00000074406
AA Change: V684A

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

0.0709

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	C	4: 86,306,762 (GRCm39)	D1392A	probably benign	Het
Afdn	T	C	17: 14,103,999 (GRCm39)		probably benign	Het
Aph1b	A	T	9: 66,691,921 (GRCm39)	M121K	probably damaging	Het
Aspg	G	A	12: 112,080,868 (GRCm39)	A120T	probably damaging	Het
Bicd1	A	G	6: 149,418,503 (GRCm39)	T725A	probably damaging	Het
Cd1d2	A	T	3: 86,895,847 (GRCm39)	I292F	probably damaging	Het
Cdcp3	A	T	7: 130,849,186 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,120 (GRCm39)	V495A	probably damaging	Het
Cfd	A	T	10: 79,728,039 (GRCm39)		probably null	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cradd	A	C	10: 95,011,735 (GRCm39)	V135G	probably benign	Het
Cry1	A	G	10: 84,979,617 (GRCm39)	C460R	probably damaging	Het
Ctu2	A	G	8: 123,207,649 (GRCm39)	E375G	probably damaging	Het
Dym	T	G	18: 75,363,236 (GRCm39)	I580S	probably damaging	Het
Eif3e	A	G	15: 43,114,943 (GRCm39)	L411P	possibly damaging	Het
Emsy	T	C	7: 98,239,982 (GRCm39)	E1091G	possibly damaging	Het
Enkur	A	G	2: 21,194,130 (GRCm39)		probably benign	Het
Fam184a	G	A	10: 53,531,175 (GRCm39)	T733M	probably damaging	Het
Frem2	G	A	3: 53,424,278 (GRCm39)	A3053V	probably benign	Het
Gbgt1	T	C	2: 28,388,435 (GRCm39)	L40P	probably damaging	Het
Gm5174	T	A	10: 86,492,372 (GRCm39)		noncoding transcript	Het
Gys2	G	T	6: 142,402,148 (GRCm39)	D230E	probably damaging	Het
Herc2	T	A	7: 55,818,766 (GRCm39)		probably null	Het
Hps3	A	T	3: 20,056,527 (GRCm39)	S815R	probably benign	Het
Igf1r	C	A	7: 67,851,710 (GRCm39)	S983R	probably damaging	Het
Itsn1	T	A	16: 91,650,656 (GRCm39)		probably benign	Het
Kcnc2	A	G	10: 112,292,431 (GRCm39)	N91D	probably damaging	Het
Kif28	C	A	1: 179,560,676 (GRCm39)	A210S	possibly damaging	Het
Klri2	T	A	6: 129,717,272 (GRCm39)	Q37L	probably damaging	Het
Lrrc38	T	A	4: 143,096,419 (GRCm39)	C243*	probably null	Het
Map3k5	T	C	10: 19,943,666 (GRCm39)	V590A	possibly damaging	Het
Mdn1	C	A	4: 32,763,306 (GRCm39)	F5135L	probably benign	Het
Megf11	G	A	9: 64,567,713 (GRCm39)	G401S	possibly damaging	Het
Mst1r	T	C	9: 107,785,547 (GRCm39)	F402L	probably damaging	Het
Ntrk3	T	C	7: 77,848,600 (GRCm39)	I759V	probably damaging	Het
Nup188	T	C	2: 30,226,936 (GRCm39)		probably benign	Het
Or4a71	C	T	2: 89,358,281 (GRCm39)	V158I	probably benign	Het
Or8b12i	T	C	9: 20,082,388 (GRCm39)	S160G	possibly damaging	Het
Prdm2	T	C	4: 142,861,469 (GRCm39)	N607S	possibly damaging	Het
Prl2a1	T	A	13: 27,990,369 (GRCm39)		probably null	Het
Serpina9	T	A	12: 103,964,523 (GRCm39)	I305F	probably damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc19a1	C	T	10: 76,878,320 (GRCm39)	T285I	probably benign	Het
Snap91	T	C	9: 86,674,580 (GRCm39)	T544A	possibly damaging	Het
Srgap3	A	G	6: 112,923,454 (GRCm39)	S2P	probably damaging	Het
Tcof1	A	G	18: 60,970,973 (GRCm39)	V210A	possibly damaging	Het
Tex261	A	G	6: 83,748,497 (GRCm39)	I136T	probably benign	Het
Trpa1	A	T	1: 14,973,480 (GRCm39)	F279L	probably null	Het
Ttc39b	T	C	4: 83,150,999 (GRCm39)	N532S	probably benign	Het
Ttn	T	C	2: 76,572,438 (GRCm39)	T26152A	probably damaging	Het
Ube2w	A	G	1: 16,668,183 (GRCm39)	S97P	possibly damaging	Het
Vmn1r25	A	C	6: 57,956,223 (GRCm39)	L22R	probably damaging	Het
Vmn1r64	T	C	7: 5,887,448 (GRCm39)	I32V	probably benign	Het
Vmn2r112	T	G	17: 22,820,214 (GRCm39)	M29R	possibly damaging	Het
Vmn2r71	T	A	7: 85,273,301 (GRCm39)	M705K	probably benign	Het
Vps13b	G	A	15: 35,884,743 (GRCm39)	V3139I	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
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
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'- TTGTTATGGCTGCCTACCTG -3'
(R):5'- AGCTTTCCCAACAGACCGAG -3'

Sequencing Primer
(F):5'- GCAGCGGCATCTGAGGAC -3'
(R):5'- TGGCCTTGCAGCACCAC -3'

Posted On

2014-10-15