Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Zfp623'

16367

Institutional Source

Beutler Lab

Gene Symbol

Zfp623

Ensembl Gene

ENSMUSG00000050846

Gene Name

zinc finger protein 623

Synonyms

2610029D06Rik

MMRRC Submission

038363-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.465) question?

Stock #

R0076 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

75940952-75949400 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75947209 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 5 (E5K)

Ref Sequence

ENSEMBL: ENSMUSP00000036049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037260]

AlphaFold

Q9CY99

Predicted Effect

probably benign
Transcript: ENSMUST00000037260
AA Change: E5K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036049
Gene: ENSMUSG00000050846
AA Change: E5K

Domain	Start	End	E-Value	Type
ZnF_C2H2	119	141	5.59e-4	SMART
ZnF_C2H2	147	169	9.96e-1	SMART
ZnF_C2H2	175	197	2.4e-3	SMART
ZnF_C2H2	203	225	6.42e-4	SMART
ZnF_C2H2	231	253	1.3e-4	SMART
ZnF_C2H2	259	281	1.3e-4	SMART
ZnF_C2H2	287	309	1.28e-3	SMART
ZnF_C2H2	315	337	3.21e-4	SMART
ZnF_C2H2	343	365	3.39e-3	SMART
ZnF_C2H2	371	393	4.87e-4	SMART
ZnF_C2H2	399	421	2.53e-2	SMART
ZnF_C2H2	427	449	3.95e-4	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 89.9%
3x: 87.5%
10x: 81.6%
20x: 72.8%

Validation Efficiency

92% (83/90)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 120,373,685		probably benign	Het
Acpp	A	G	9: 104,324,218		probably benign	Het
Ada	T	A	2: 163,727,603		probably benign	Het
Ankrd17	T	A	5: 90,244,406	K1693*	probably null	Het
Arhgef38	T	A	3: 133,160,746	H210L	possibly damaging	Het
Car10	G	A	11: 93,490,597	E129K	possibly damaging	Het
Cask	A	G	X: 13,678,274		probably benign	Het
Cd19	T	C	7: 126,410,862	D406G	probably damaging	Het
Cd93	T	C	2: 148,442,136	D430G	probably benign	Het
Cds1	T	C	5: 101,817,840		probably benign	Het
Cerkl	A	T	2: 79,343,289	S259T	possibly damaging	Het
Cog8	T	C	8: 107,054,133	I164M	possibly damaging	Het
Col4a1	G	A	8: 11,218,713	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,237,497		probably null	Het
Dcc	G	A	18: 71,321,046	Q1241*	probably null	Het
Dock3	A	C	9: 106,911,486		probably benign	Het
Dus1l	A	T	11: 120,792,808		probably benign	Het
Dvl2	G	A	11: 70,008,100	E438K	probably damaging	Het
Eif3g	A	G	9: 20,897,753	F85S	probably damaging	Het
Fam234b	A	G	6: 135,227,226	M456V	probably benign	Het
Fbxo47	G	A	11: 97,857,655		probably benign	Het
Fyb2	A	G	4: 104,945,464	T188A	possibly damaging	Het
Gm11437	T	C	11: 84,148,636	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,353,132		noncoding transcript	Het
Gmfb	C	A	14: 46,817,455	A11S	probably benign	Het
Gpat4	G	A	8: 23,190,705		probably benign	Het
Ifitm6	T	A	7: 141,016,007	R124S	possibly damaging	Het
Il17rd	T	A	14: 27,094,854	L172Q	probably damaging	Het
Il4	A	T	11: 53,613,914	L13Q	probably damaging	Het
Kif2b	A	G	11: 91,575,909	M516T	probably damaging	Het
Kmt2a	A	G	9: 44,830,059		probably benign	Het
Maats1	G	A	16: 38,302,684	Q661*	probably null	Het
Mark1-ps1	T	A	17: 53,947,877		noncoding transcript	Het
Mndal	G	T	1: 173,874,447	C96*	probably null	Het
Mroh1	T	C	15: 76,451,140	S1365P	probably benign	Het
Mrpl12	A	G	11: 120,485,442		probably benign	Het
Mthfsd	C	A	8: 121,098,739	V270F	probably benign	Het
Nbas	T	A	12: 13,324,336	V555D	probably damaging	Het
Pcdhb16	T	C	18: 37,478,359	V124A	probably damaging	Het
Pla2g10	T	A	16: 13,715,518	Y131F	possibly damaging	Het
Plec	T	C	15: 76,191,414		probably benign	Het
Polr2b	T	A	5: 77,326,561	V415E	possibly damaging	Het
Pou6f1	G	A	15: 100,587,836	Q106*	probably null	Het
Ptprd	T	C	4: 75,947,039		probably benign	Het
Rad54b	G	A	4: 11,609,480		probably benign	Het
Rspo1	G	A	4: 124,991,397	R22Q	probably benign	Het
Scn7a	A	G	2: 66,714,037	V370A	probably benign	Het
Sec1	A	G	7: 45,678,891	V244A	probably damaging	Het
Serac1	A	G	17: 6,064,937		probably benign	Het
Slco2b1	A	T	7: 99,685,501	Y254*	probably null	Het
Steap3	G	A	1: 120,227,730	R500C	probably damaging	Het
Stk10	A	G	11: 32,603,722	T580A	probably benign	Het
Tpo	C	T	12: 30,104,023	G228R	probably damaging	Het
Tpx2	T	C	2: 152,893,683	F744L	probably damaging	Het
Ube3b	G	T	5: 114,408,217		probably null	Het
Vmn2r84	A	G	10: 130,394,193	S17P	probably damaging	Het
Vps13d	A	T	4: 145,164,694		probably benign	Het
Zfp532	T	A	18: 65,685,627	S851R	probably benign	Het

Other mutations in Zfp623

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Zfp623	APN	15	75948203	missense	probably damaging	1.00
IGL01524:Zfp623	APN	15	75947679	missense	probably benign
IGL01927:Zfp623	APN	15	75947505	missense	possibly damaging	0.57
IGL03199:Zfp623	APN	15	75947270	missense	probably benign	0.40
R0352:Zfp623	UTSW	15	75948584	missense	probably benign	0.00
R0360:Zfp623	UTSW	15	75948661	missense	probably benign
R0364:Zfp623	UTSW	15	75948661	missense	probably benign
R1783:Zfp623	UTSW	15	75947911	missense	probably damaging	0.99
R2219:Zfp623	UTSW	15	75947530	missense	possibly damaging	0.90
R5975:Zfp623	UTSW	15	75948163	missense	probably benign	0.43
R6161:Zfp623	UTSW	15	75948621	missense	probably benign	0.22
R6342:Zfp623	UTSW	15	75947988	nonsense	probably null
R6490:Zfp623	UTSW	15	75948459	missense	probably damaging	1.00
R6513:Zfp623	UTSW	15	75947468	missense	probably benign
R7028:Zfp623	UTSW	15	75948305	missense	probably damaging	0.99
R7399:Zfp623	UTSW	15	75947398	missense	probably damaging	0.98
R7716:Zfp623	UTSW	15	75948422	missense	probably damaging	1.00
R8362:Zfp623	UTSW	15	75947639	missense	probably damaging	1.00
R8445:Zfp623	UTSW	15	75947553	nonsense	probably null
R9028:Zfp623	UTSW	15	75947500	missense	probably damaging	0.97
R9035:Zfp623	UTSW	15	75948313	missense	possibly damaging	0.93
R9310:Zfp623	UTSW	15	75948100	missense	probably damaging	1.00

Posted On

2013-01-20