Mutagenetix > Incidental Mutation

Incidental Mutation 'R6478:Zmym6'

516898

Institutional Source

Beutler Lab

Gene Symbol

Zmym6

Ensembl Gene

ENSMUSG00000042408

Gene Name

zinc finger, MYM-type 6

Synonyms

Zfp258, D4Wsu24e, 9330177P20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6478 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127077383-127124372 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 127123383 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 894 (V894L)

Ref Sequence

ENSEMBL: ENSMUSP00000092303 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046751] [ENSMUST00000094712] [ENSMUST00000094713] [ENSMUST00000106097]

AlphaFold

Q8BS54

Predicted Effect

probably benign
Transcript: ENSMUST00000046751
AA Change: V986L

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000045366
Gene: ENSMUSG00000042408
AA Change: V986L

Domain	Start	End	E-Value	Type
Blast:TRASH	77	113	1e-12	BLAST
TRASH	123	163	1.18e-1	SMART
TRASH	197	231	5.47e3	SMART
TRASH	241	277	4.01e1	SMART
TRASH	349	385	2.46e1	SMART
TRASH	391	426	3.32e2	SMART
TRASH	434	472	2.91e-1	SMART
TRASH	478	513	9.99e0	SMART
low complexity region	602	612	N/A	INTRINSIC
low complexity region	642	656	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094712

SMART Domains

Protein: ENSMUSP00000092302
Gene: ENSMUSG00000070737

Domain	Start	End	E-Value	Type
Pfam:DoxX	5	103	9e-9	PFAM
Pfam:DoxX_2	7	124	4.8e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094713
AA Change: V894L

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092303
Gene: ENSMUSG00000042408
AA Change: V894L

Domain	Start	End	E-Value	Type
Blast:TRASH	77	113	1e-12	BLAST
TRASH	123	163	1.18e-1	SMART
TRASH	197	231	5.47e3	SMART
TRASH	262	293	6.03e2	SMART
TRASH	299	334	3.32e2	SMART
TRASH	342	380	2.91e-1	SMART
TRASH	386	421	9.99e0	SMART
low complexity region	510	520	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106097

SMART Domains

Protein: ENSMUSP00000101703
Gene: ENSMUSG00000070737

Domain	Start	End	E-Value	Type
Pfam:DoxX_2	27	111	8.1e-12	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

95% (75/79)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	G	14: 49,773,332	V306A	possibly damaging	Het
9530053A07Rik	C	G	7: 28,155,373	P1808R	probably damaging	Het
Aatk	T	A	11: 120,010,991	S803C	probably benign	Het
Abcc9	C	T	6: 142,679,308	A454T	probably damaging	Het
Abr	T	C	11: 76,452,332	E565G	probably damaging	Het
Adam33	C	A	2: 131,051,346	R753L	probably benign	Het
Adgre1	A	G	17: 57,401,955	T49A	possibly damaging	Het
AI314180	A	T	4: 58,810,785	I1524N	probably damaging	Het
Ankra2	A	T	13: 98,268,442	H153L	probably damaging	Het
Ankrd26	T	G	6: 118,511,638	E1353D	probably benign	Het
Ankrd52	T	G	10: 128,379,331		probably null	Het
Arhgef10l	T	A	4: 140,542,757	T619S	possibly damaging	Het
Asgr1	T	C	11: 70,056,894	V130A	possibly damaging	Het
Atg10	C	A	13: 90,937,347	C161F	probably damaging	Het
Atm	A	T	9: 53,490,254	N1438K	probably damaging	Het
BC107364	T	A	3: 96,436,006		probably null	Het
Bcar3	G	T	3: 122,426,576	A41S	probably benign	Het
Btbd6	A	G	12: 112,977,312		probably benign	Het
Cchcr1	A	G	17: 35,524,703	T318A	possibly damaging	Het
Celsr1	A	T	15: 85,925,518	I2221N	probably damaging	Het
Cept1	C	T	3: 106,533,445	W48*	probably null	Het
Cfap161	T	A	7: 83,793,276	I85L	probably benign	Het
Clasp1	A	T	1: 118,512,180	R640*	probably null	Het
Col5a1	T	A	2: 27,952,436	I441N	unknown	Het
Col9a1	C	A	1: 24,185,405	L223I	unknown	Het
Dnah2	T	C	11: 69,516,010	D223G	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dpy19l1	A	T	9: 24,450,696	M129K	possibly damaging	Het
Fcrl1	C	A	3: 87,389,639	H318Q	probably benign	Het
Fer1l5	A	G	1: 36,402,531	N609S	probably damaging	Het
Fkbp4	C	T	6: 128,433,231	E256K	probably damaging	Het
Fsip2	A	G	2: 82,990,086	T5388A	possibly damaging	Het
Glrx	G	A	13: 75,847,299		probably null	Het
Gm6614	A	T	6: 141,993,642	N208K	possibly damaging	Het
Gm7356	A	T	17: 14,001,464	M101K	probably damaging	Het
Gstp2	A	T	19: 4,040,499	I162N	probably benign	Het
Hectd3	A	C	4: 116,999,586	K443N	probably damaging	Het
Hmcn1	T	A	1: 150,664,784	R2925W	probably damaging	Het
Hspa1a	G	T	17: 34,970,306	N540K	probably damaging	Het
Ints6	A	T	14: 62,700,786	M649K	probably benign	Het
Katnb1	T	C	8: 95,095,456	V270A	possibly damaging	Het
Kctd3	A	G	1: 188,972,364	S737P	probably benign	Het
Klra10	T	C	6: 130,272,544		probably null	Het
Lmtk3	A	G	7: 45,798,589	D1353G	unknown	Het
Lrrk1	A	G	7: 66,262,733	V1693A	probably damaging	Het
Mpnd	A	T	17: 56,009,575	I85F	probably damaging	Het
Myo3b	A	G	2: 70,348,960	T1173A	probably benign	Het
Myof	G	A	19: 37,903,831	P1158L	probably damaging	Het
Naip2	A	C	13: 100,162,041	S496A	probably benign	Het
Ncor2	A	G	5: 125,110,005		probably benign	Het
Npepps	C	T	11: 97,258,273		probably null	Het
Olfr1247	T	G	2: 89,609,446	I219L	probably damaging	Het
Opn5	T	A	17: 42,580,749	I266F	probably benign	Het
P2rx4	A	G	5: 122,707,700	D16G	probably damaging	Het
Padi2	G	T	4: 140,917,637	V61L	probably benign	Het
Pkd1l1	G	A	11: 8,863,911	T1480I	probably benign	Het
Plcb1	T	C	2: 135,335,451	S568P	probably damaging	Het
Rassf10	A	G	7: 112,955,707	E505G	probably damaging	Het
Rcan2	A	G	17: 43,836,334	E21G	probably benign	Het
Rhob	G	T	12: 8,499,585	C16*	probably null	Het
Ryr3	T	C	2: 112,660,068	N3807S	probably damaging	Het
Sass6	T	A	3: 116,621,397	N519K	probably benign	Het
Smad9	A	T	3: 54,782,443	D28V	probably damaging	Het
Tepp	A	T	8: 95,321,266		probably null	Het
Tex14	G	T	11: 87,514,373	G704C	probably benign	Het
Tmc3	A	G	7: 83,622,316	N892S	probably benign	Het
Tnfaip2	T	A	12: 111,445,663	L166Q	probably damaging	Het
Triml2	A	G	8: 43,185,128		probably null	Het
Trio	A	G	15: 27,856,107	V666A	probably benign	Het
Tshz2	G	T	2: 169,884,664	L393F	probably damaging	Het
Ttn	T	G	2: 76,841,771		probably benign	Het
Tubb5	A	G	17: 35,835,842	Y159H	probably damaging	Het
Umodl1	A	G	17: 30,959,155	Y35C	probably damaging	Het
Utp4	T	C	8: 106,904,446		probably null	Het
Vmn1r60	A	T	7: 5,544,865	C79S	probably damaging	Het
Wnt5b	T	C	6: 119,433,790	T230A	probably damaging	Het
Zfp618	A	T	4: 63,132,706	I575F	probably damaging	Het
Zpbp	T	C	11: 11,462,318		probably benign	Het

Other mutations in Zmym6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Zmym6	APN	4	127101949	nonsense	probably null
IGL00486:Zmym6	APN	4	127124185	utr 5 prime	probably benign
IGL01017:Zmym6	APN	4	127088359	missense	probably benign	0.00
IGL01385:Zmym6	APN	4	127124106	missense	probably benign	0.02
IGL01577:Zmym6	APN	4	127105430	missense	probably damaging	1.00
IGL01654:Zmym6	APN	4	127123726	missense	probably damaging	1.00
IGL01736:Zmym6	APN	4	127108644	missense	probably damaging	1.00
IGL01824:Zmym6	APN	4	127108706	missense	probably damaging	0.99
IGL01916:Zmym6	APN	4	127123756	missense	probably damaging	0.98
IGL01985:Zmym6	APN	4	127100748	missense	probably damaging	1.00
IGL02056:Zmym6	APN	4	127103414	missense	probably damaging	1.00
IGL02477:Zmym6	APN	4	127078502	nonsense	probably null
IGL02754:Zmym6	APN	4	127109971	splice site	probably benign
IGL03344:Zmym6	APN	4	127120521	missense	probably damaging	1.00
IGL03412:Zmym6	APN	4	127092938	missense	probably damaging	1.00
R0335:Zmym6	UTSW	4	127122808	missense	probably damaging	1.00
R0448:Zmym6	UTSW	4	127108694	missense	probably benign	0.01
R0463:Zmym6	UTSW	4	127122772	missense	probably damaging	0.98
R0538:Zmym6	UTSW	4	127123369	missense	probably benign	0.21
R0789:Zmym6	UTSW	4	127122822	missense	possibly damaging	0.52
R0798:Zmym6	UTSW	4	127103523	missense	probably benign	0.00
R1311:Zmym6	UTSW	4	127123358	missense	probably damaging	1.00
R1351:Zmym6	UTSW	4	127123005	missense	probably benign	0.00
R1429:Zmym6	UTSW	4	127123879	missense	probably damaging	1.00
R1636:Zmym6	UTSW	4	127123767	missense	probably damaging	0.99
R1666:Zmym6	UTSW	4	127122859	missense	probably damaging	0.98
R1919:Zmym6	UTSW	4	127103414	missense	probably damaging	1.00
R2058:Zmym6	UTSW	4	127088415	nonsense	probably null
R3957:Zmym6	UTSW	4	127123296	missense	possibly damaging	0.68
R3978:Zmym6	UTSW	4	127123555	missense	possibly damaging	0.71
R4417:Zmym6	UTSW	4	127092988	missense	probably damaging	1.00
R4801:Zmym6	UTSW	4	127123216	missense	probably benign	0.19
R4802:Zmym6	UTSW	4	127123216	missense	probably benign	0.19
R5052:Zmym6	UTSW	4	127123974	missense	possibly damaging	0.92
R5105:Zmym6	UTSW	4	127123758	missense	probably benign	0.33
R5217:Zmym6	UTSW	4	127105374	missense	possibly damaging	0.76
R5682:Zmym6	UTSW	4	127104407	missense	probably damaging	1.00
R5841:Zmym6	UTSW	4	127100670	missense	possibly damaging	0.71
R5991:Zmym6	UTSW	4	127108473	splice site	probably null
R7014:Zmym6	UTSW	4	127123544	nonsense	probably null
R7287:Zmym6	UTSW	4	127122982	missense	possibly damaging	0.50
R7290:Zmym6	UTSW	4	127123501	missense	possibly damaging	0.73
R7371:Zmym6	UTSW	4	127104313	missense	probably damaging	1.00
R7967:Zmym6	UTSW	4	127122660	missense	probably benign	0.03
R8237:Zmym6	UTSW	4	127122751	missense	probably damaging	0.99
R8306:Zmym6	UTSW	4	127122562	missense	probably damaging	1.00
R8312:Zmym6	UTSW	4	127123834	missense	probably damaging	1.00
R9090:Zmym6	UTSW	4	127124061	missense	probably damaging	0.99
R9216:Zmym6	UTSW	4	127108707	missense	probably benign	0.00
R9271:Zmym6	UTSW	4	127124061	missense	probably damaging	0.99
R9695:Zmym6	UTSW	4	127122547	missense	probably benign
X0025:Zmym6	UTSW	4	127122350	missense	possibly damaging	0.60
X0067:Zmym6	UTSW	4	127104314	missense	probably damaging	1.00
Z1177:Zmym6	UTSW	4	127123797	missense	not run

Predicted Primers

PCR Primer
(F):5'- GCCAAGAATACAGTGACATTTACAC -3'
(R):5'- TCTTCTGGTGGGTAACAGGC -3'

Sequencing Primer
(F):5'- ACATTGTTTCATTCACCGTGAACAC -3'
(R):5'- ATCTGAGAAAGTCCTTCCAGGTGC -3'

Posted On

2018-05-21