Mutagenetix > Incidental Mutation

Incidental Mutation 'R3978:Zmym6'

311113

Institutional Source

Beutler Lab

Gene Symbol

Zmym6

Ensembl Gene

ENSMUSG00000042408

Gene Name

zinc finger, MYM-type 6

Synonyms

Zfp258, D4Wsu24e, 9330177P20Rik

MMRRC Submission

040941-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3978 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127077383-127124372 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127123555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 951 (I951T)

Ref Sequence

ENSEMBL: ENSMUSP00000092303 (fasta)

Gene Model

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

AlphaFold

Q8BS54

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046751
AA Change: I1043T

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045366
Gene: ENSMUSG00000042408
AA Change: I1043T

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: I951T

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092303
Gene: ENSMUSG00000042408
AA Change: I951T

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

Meta Mutation Damage Score

0.1686

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 138,183,674	T61A	probably benign	Het
Adam28	A	G	14: 68,610,994	V671A	probably benign	Het
Ankhd1	A	T	18: 36,647,613	H1906L	probably damaging	Het
Ano5	G	A	7: 51,587,806	V743I	probably benign	Het
Arfgef1	A	G	1: 10,209,634	V236A	probably benign	Het
Arid2	A	G	15: 96,363,622	D453G	probably damaging	Het
Atp2b1	C	A	10: 98,996,933		probably null	Het
Azin1	A	T	15: 38,498,713	N135K	probably damaging	Het
B020004C17Rik	G	T	14: 57,017,188	M156I	possibly damaging	Het
Cfap54	T	C	10: 92,962,412	T1662A	probably benign	Het
Cog8	T	A	8: 107,053,037	I203F	probably damaging	Het
Col6a6	T	C	9: 105,698,879	H2094R	probably damaging	Het
Cybb	T	C	X: 9,444,588	Y425C	probably damaging	Het
Dab2	A	G	15: 6,435,163		probably null	Het
Dpyd	AAAT	AAATGTATATAAAT	3: 118,897,088		probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,897,089		probably benign	Het
Eif3i	T	C	4: 129,592,336	E276G	probably damaging	Het
Fam171a1	A	C	2: 3,225,035	M402L	probably benign	Het
Fga	A	T	3: 83,030,183		probably null	Het
Foxp2	A	G	6: 15,197,208		probably benign	Het
Gbp2	C	T	3: 142,629,986	T149I	possibly damaging	Het
Gm9631	A	G	11: 121,943,568	Y281H	possibly damaging	Het
Gpr21	C	T	2: 37,517,850	T136I	probably benign	Het
Gprc5b	C	T	7: 118,984,131	V172M	probably damaging	Het
Gprc6a	C	A	10: 51,621,101	V449L	probably benign	Het
Hdlbp	T	C	1: 93,421,351	I535V	probably damaging	Het
Helb	A	G	10: 120,089,625	V949A	probably benign	Het
Hoxc13	T	C	15: 102,921,240	V18A	possibly damaging	Het
Hr	A	G	14: 70,563,584	T699A	probably benign	Het
Il27ra	G	A	8: 84,040,684	T170I	probably benign	Het
Insm2	T	C	12: 55,600,838	Y456H	probably benign	Het
Katna1	T	C	10: 7,752,754	M249T	probably damaging	Het
Lin9	T	A	1: 180,668,792	I298N	possibly damaging	Het
Lyst	G	A	13: 13,634,168	R141Q	possibly damaging	Het
Nos3	T	A	5: 24,377,931	D685E	probably damaging	Het
Oasl1	C	T	5: 114,932,898	T274I	probably damaging	Het
Olfr485	A	G	7: 108,159,612	M87T	possibly damaging	Het
Pdgfrb	A	T	18: 61,073,685	H661L	probably damaging	Het
Ppfia2	A	G	10: 106,830,629	T399A	possibly damaging	Het
Ppp1ca	T	C	19: 4,192,254	I13T	probably benign	Het
Psmd1	T	C	1: 86,128,187	M757T	probably benign	Het
Rdh19	A	T	10: 127,850,075	R19W	possibly damaging	Het
Rfx7	A	G	9: 72,615,111	T296A	possibly damaging	Het
Rgl2	G	A	17: 33,935,162	R472H	probably benign	Het
Rhcg	T	C	7: 79,617,399	E43G	probably benign	Het
Rif1	T	A	2: 52,116,747		probably null	Het
Rorb	A	G	19: 18,937,890	V468A	probably benign	Het
Rxrb	C	T	17: 34,036,326	P209L	possibly damaging	Het
Sbf2	G	T	7: 110,329,885	T1438K	probably benign	Het
Setd3	A	T	12: 108,157,942	C163S	possibly damaging	Het
Slc15a1	C	T	14: 121,489,827	D110N	probably benign	Het
Slc26a3	T	A	12: 31,465,860		probably null	Het
Slc5a5	A	G	8: 70,889,395	V305A	probably benign	Het
Slc6a6	A	T	6: 91,755,052	M621L	probably benign	Het
Smgc	A	T	15: 91,860,348	D301V	probably damaging	Het
Spata31d1c	A	G	13: 65,035,160	D172G	possibly damaging	Het
Syt15	T	A	14: 34,223,104	C203S	probably benign	Het
Tdrd1	A	G	19: 56,866,634	R1171G	probably benign	Het
Trp63	A	G	16: 25,820,740		probably benign	Het
Tspan9	A	G	6: 127,967,247	V30A	probably damaging	Het
Ubp1	A	T	9: 113,956,705		probably null	Het
Vmn2r68	T	A	7: 85,232,462	Y470F	probably benign	Het
Wbp1l	T	A	19: 46,653,957		probably null	Het
Wee1	G	T	7: 110,124,555	D226Y	probably damaging	Het
Yap1	C	T	9: 8,004,284	G36D	probably damaging	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
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
R6478:Zmym6	UTSW	4	127123383	missense	possibly damaging	0.86
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'- TGGGATCTGAGCATGTGAATTTAC -3'
(R):5'- GTGGGTAACAGGCATGGAATATCTG -3'

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

Posted On

2015-04-29