Mutagenetix > Incidental Mutation

Incidental Mutation 'R1636:Zmym6'

173149

Institutional Source

Beutler Lab

Gene Symbol

Zmym6

Ensembl Gene

ENSMUSG00000042408

Gene Name

zinc finger, MYM-type 6

Synonyms

Zfp258, D4Wsu24e, 9330177P20Rik

MMRRC Submission

039672-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1636 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127077383-127124372 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127123767 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 1022 (H1022N)

Ref Sequence

ENSEMBL: ENSMUSP00000092303 (fasta)

Gene Model

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

AlphaFold

Q8BS54

Predicted Effect

probably damaging
Transcript: ENSMUST00000046751
AA Change: H1114N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045366
Gene: ENSMUSG00000042408
AA Change: H1114N

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

probably damaging
Transcript: ENSMUST00000094713
AA Change: H1022N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092303
Gene: ENSMUSG00000042408
AA Change: H1022N

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

0.4165

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.4%
20x: 86.1%

Validation Efficiency

96% (85/89)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,654,612	L623M	probably benign	Het
Abca7	A	G	10: 80,008,998	H1518R	probably benign	Het
Adam4	A	G	12: 81,419,690	L719S	probably damaging	Het
Adprm	T	C	11: 67,041,723	Y120C	possibly damaging	Het
Arhgap25	T	A	6: 87,495,941	Y78F	probably damaging	Het
Asap1	G	A	15: 64,123,912	P665L	probably damaging	Het
Bank1	T	C	3: 136,083,226	K637R	probably damaging	Het
BC005561	T	A	5: 104,520,750	M1046K	probably damaging	Het
Bcr	T	A	10: 75,131,066	L502M	probably damaging	Het
Brwd1	A	G	16: 96,059,641	L315P	probably damaging	Het
Btbd7	A	T	12: 102,793,851	Y613N	probably damaging	Het
Cdca7l	G	A	12: 117,876,928	R395H	probably damaging	Het
Cftr	T	A	6: 18,226,157	I368K	probably damaging	Het
D6Wsu163e	T	C	6: 126,946,601	V150A	possibly damaging	Het
Ddx52	A	G	11: 83,955,343	T470A	probably damaging	Het
Def6	A	G	17: 28,223,918	E316G	possibly damaging	Het
Dip2a	A	T	10: 76,321,578	N64K	probably benign	Het
Dlgap4	G	T	2: 156,746,077	E631*	probably null	Het
Dner	T	C	1: 84,585,330	K190E	possibly damaging	Het
Eif2b4	T	A	5: 31,192,266		probably null	Het
Eif3a	A	T	19: 60,781,905	D119E	possibly damaging	Het
Ercc2	C	T	7: 19,387,124	T276M	possibly damaging	Het
Exoc1	A	G	5: 76,568,118	K830R	probably benign	Het
F2r	G	T	13: 95,603,892	Y378*	probably null	Het
Fam186a	G	A	15: 99,941,658	T2235I	unknown	Het
Fmo3	T	G	1: 162,954,425	K453T	probably benign	Het
Fzd3	A	T	14: 65,253,106	D9E	probably benign	Het
Galns	A	G	8: 122,604,216		probably benign	Het
Gm1818	T	C	12: 48,555,767		noncoding transcript	Het
Gm9955	C	A	18: 24,709,230		probably benign	Het
Immp2l	T	C	12: 41,703,687	V113A	probably damaging	Het
Iyd	T	A	10: 3,545,588	M82K	possibly damaging	Het
Kif21a	A	T	15: 90,984,805		probably benign	Het
Lipf	A	G	19: 33,976,535	D342G	probably damaging	Het
Lmbrd1	C	A	1: 24,746,930	Y435*	probably null	Het
Mpped1	C	T	15: 83,791,990		probably benign	Het
Mtrf1l	A	G	10: 5,813,265	S355P	probably damaging	Het
Ndn	C	T	7: 62,348,508	P34L	probably benign	Het
Neo1	T	C	9: 58,913,277	S788G	probably damaging	Het
Nfx1	T	G	4: 41,016,072		probably null	Het
Nlrp4c	T	C	7: 6,066,738	V546A	possibly damaging	Het
Nwd2	G	A	5: 63,807,557	V1495M	probably damaging	Het
Oaf	T	A	9: 43,239,324	I84F	probably benign	Het
Obscn	A	G	11: 59,122,637	F1153S	probably damaging	Het
Ofcc1	A	T	13: 40,180,428	C396S	possibly damaging	Het
Olfr576	T	G	7: 102,965,691	I197S	possibly damaging	Het
Olfr955	T	C	9: 39,469,919	D269G	probably benign	Het
Omg	A	G	11: 79,502,340	S231P	probably benign	Het
Pdcl3	A	G	1: 38,994,935	T53A	possibly damaging	Het
Pik3r2	A	T	8: 70,771,898	H244Q	probably benign	Het
Pinx1	A	T	14: 63,866,137	H55L	probably damaging	Het
Pwwp2b	T	A	7: 139,254,842	H66Q	probably benign	Het
Rell2	A	G	18: 37,958,079	D99G	probably damaging	Het
Reln	G	A	5: 21,998,683	A1191V	probably damaging	Het
Rprm	T	C	2: 54,085,304	M1V	probably null	Het
Sav1	A	C	12: 69,984,495	H84Q	probably benign	Het
Scamp5	T	C	9: 57,451,409	D28G	possibly damaging	Het
Selenbp2	G	A	3: 94,696,815	G9D	probably damaging	Het
Sh3tc2	T	C	18: 61,989,721	W518R	probably damaging	Het
Slc10a6	A	T	5: 103,629,146	N29K	probably benign	Het
Spindoc	C	A	19: 7,374,557	D142Y	probably damaging	Het
Spink12	T	A	18: 44,107,728	D60E	probably benign	Het
Sugt1	A	G	14: 79,587,982	I23V	probably benign	Het
Syne2	T	C	12: 76,004,732	C4079R	probably benign	Het
Tex15	T	G	8: 33,576,387	Y1948*	probably null	Het
Tln2	T	C	9: 67,306,532	E321G	probably damaging	Het
Tmem198b	A	G	10: 128,802,196	L166P	probably damaging	Het
Tspear	T	A	10: 77,870,419	L341H	possibly damaging	Het
Ttn	T	A	2: 76,900,222		probably benign	Het
Unc13a	G	A	8: 71,653,390	T690I	probably damaging	Het
Ush2a	T	C	1: 188,466,176	I1479T	possibly damaging	Het
Vcan	G	A	13: 89,703,667	T1058I	possibly damaging	Het
Vmn1r84	T	C	7: 12,362,595	Q45R	probably benign	Het
Vmn2r111	T	C	17: 22,571,399	N209D	probably damaging	Het
Wbp1l	A	G	19: 46,644,444	Y40C	probably damaging	Het
Wdr72	A	T	9: 74,179,625	H625L	probably benign	Het
Zeb2	T	C	2: 45,002,611	Y195C	probably damaging	Het
Zkscan6	C	T	11: 65,814,430		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
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
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

Posted On

2014-04-24