Mutagenetix > Incidental Mutation

Incidental Mutation 'R4417:Zmym6'

326875

Institutional Source

Beutler Lab

Gene Symbol

Zmym6

Ensembl Gene

ENSMUSG00000042408

Gene Name

zinc finger, MYM-type 6

Synonyms

Zfp258, D4Wsu24e, 9330177P20Rik

MMRRC Submission

041138-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4417 (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 127092988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 154 (S154P)

Ref Sequence

ENSEMBL: ENSMUSP00000045366 (fasta)

Gene Model

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

AlphaFold

Q8BS54

Predicted Effect

probably damaging
Transcript: ENSMUST00000046751
AA Change: S154P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000045366
Gene: ENSMUSG00000042408
AA Change: S154P

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 damaging
Transcript: ENSMUST00000094713
AA Change: S154P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092303
Gene: ENSMUSG00000042408
AA Change: S154P

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

noncoding transcript
Transcript: ENSMUST00000129926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151461

Meta Mutation Damage Score

0.4970

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574	T183A	possibly damaging	Het
A630001G21Rik	T	A	1: 85,726,463	Y51F	probably damaging	Het
Abi3bp	C	A	16: 56,654,035	T631K	probably damaging	Het
BC004004	G	A	17: 29,282,275		probably benign	Het
Cabp1	G	A	5: 115,186,037	S7L	possibly damaging	Het
Cdc23	ACC	AC	18: 34,637,318		probably null	Het
Clhc1	T	C	11: 29,571,826	I453T	possibly damaging	Het
Col28a1	T	A	6: 8,175,666	I61F	possibly damaging	Het
Col2a1	T	C	15: 97,998,585	E61G	unknown	Het
Col6a4	C	T	9: 106,072,016	V807I	probably damaging	Het
Crhbp	T	C	13: 95,443,877	S65G	probably benign	Het
Dnah9	T	A	11: 65,981,214	Q2730L	possibly damaging	Het
Epx	T	A	11: 87,869,430	R453*	probably null	Het
Fez1	T	C	9: 36,870,472		probably benign	Het
G530012D18Rik	G	C	1: 85,577,202		probably benign	Het
Glp2r	T	C	11: 67,664,516		probably benign	Het
Gm1141	G	A	X: 71,939,619	C399Y	possibly damaging	Het
Gpm6a	T	A	8: 55,050,188	N157K	probably damaging	Het
Kcnj2	T	C	11: 111,072,189	S136P	probably damaging	Het
Lad1	A	G	1: 135,828,746	D364G	probably benign	Het
Lcp2	G	T	11: 34,050,917	E33D	probably benign	Het
Lrrc32	G	T	7: 98,498,937	R308L	probably benign	Het
Matr3	C	A	18: 35,572,118	A32D	probably damaging	Het
Mfsd12	A	G	10: 81,364,703		probably benign	Het
Mtmr11	T	C	3: 96,167,891		probably benign	Het
Notch2	A	G	3: 98,131,270	D1243G	possibly damaging	Het
Odf2	T	A	2: 29,915,321		probably benign	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr1233	T	C	2: 89,339,987	E105G	probably benign	Het
Pitpnm2	G	T	5: 124,123,569	R977S	probably damaging	Het
Prdm13	T	C	4: 21,678,756	E578G	probably benign	Het
Pum3	A	G	19: 27,422,716	I183T	probably damaging	Het
Rdh14	G	A	12: 10,391,231		probably null	Het
Slc35b2	G	A	17: 45,566,429	V161M	probably benign	Het
Slit1	A	G	19: 41,614,469	C968R	probably damaging	Het
Spag9	A	T	11: 94,060,346		probably benign	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Stradb	T	C	1: 58,994,372	V398A	probably benign	Het
Tlr4	A	T	4: 66,839,303	N111I	probably damaging	Het
Tnip2	G	A	5: 34,503,581	R176*	probably null	Het
Tomm7	A	G	5: 23,843,979	I32T	probably benign	Het
Trank1	T	C	9: 111,365,968	I1020T	probably benign	Het
Ugt1a10	T	G	1: 88,055,995	S172A	probably benign	Het
Vmn2r115	T	A	17: 23,345,880	M247K	probably benign	Het
Zfp341	T	C	2: 154,628,987	L308P	possibly 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
R3978:Zmym6	UTSW	4	127123555	missense	possibly damaging	0.71
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'- GGTTTTCTACTGTGCAATAGTTACTCC -3'
(R):5'- TGCACTGGGGAGACTGAAAC -3'

Sequencing Primer
(F):5'- CCAGTAAAATAGCATTTTAGCTCCC -3'
(R):5'- TTGAGACCAGTCTAGAATACAGAGC -3'

Posted On

2015-07-07