Mutagenetix > Incidental Mutation

Incidental Mutation 'R0463:Zmym6'

41471

Institutional Source

Beutler Lab

Gene Symbol

Zmym6

Ensembl Gene

ENSMUSG00000042408

Gene Name

zinc finger, MYM-type 6

Synonyms

9330177P20Rik, Zfp258, D4Wsu24e

MMRRC Submission

038663-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0463 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126971176-127018165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127016565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 782 (V782A)

Ref Sequence

ENSEMBL: ENSMUSP00000045366 (fasta)

Gene Model

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

AlphaFold

Q8BS54

Predicted Effect

probably damaging
Transcript: ENSMUST00000046751
AA Change: V782A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045366
Gene: ENSMUSG00000042408
AA Change: V782A

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: V690A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092303
Gene: ENSMUSG00000042408
AA Change: V690A

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: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,926 (GRCm39)		probably benign	Het
Abcd2	C	T	15: 91,043,327 (GRCm39)	M620I	probably benign	Het
Ada	T	A	2: 163,572,271 (GRCm39)	I243F	probably benign	Het
Adam12	T	C	7: 133,576,145 (GRCm39)		probably null	Het
Adarb2	A	T	13: 8,253,224 (GRCm39)		probably benign	Het
Adk	A	C	14: 21,473,604 (GRCm39)	Q287P	probably benign	Het
Ahnak	A	G	19: 8,986,771 (GRCm39)		probably benign	Het
Aoc3	C	T	11: 101,222,432 (GRCm39)	R223W	probably damaging	Het
Aqp11	T	C	7: 97,378,228 (GRCm39)	D229G	probably benign	Het
Arhgap28	A	G	17: 68,203,220 (GRCm39)	S78P	probably damaging	Het
Bfsp2	T	A	9: 103,303,854 (GRCm39)	E383D	possibly damaging	Het
Bmpr1b	A	T	3: 141,563,191 (GRCm39)	V251D	possibly damaging	Het
Calhm1	C	T	19: 47,132,280 (GRCm39)	V112I	probably benign	Het
Catsperd	A	G	17: 56,966,554 (GRCm39)	D508G	probably damaging	Het
Cfap54	A	G	10: 92,710,805 (GRCm39)		probably null	Het
Cfap70	A	T	14: 20,498,631 (GRCm39)	Y19N	probably damaging	Het
Chga	A	T	12: 102,529,210 (GRCm39)	R396*	probably null	Het
Cntnap3	T	C	13: 64,926,690 (GRCm39)	E560G	probably damaging	Het
Csmd1	T	C	8: 15,971,759 (GRCm39)	T3024A	probably damaging	Het
Csrnp1	CCCTCCTCCTCCTCCTCCTC	CCCTCCTCCTCCTCCTC	9: 119,801,841 (GRCm39)		probably benign	Het
Cysltr1	A	G	X: 105,622,261 (GRCm39)	V75A	possibly damaging	Het
Dnaaf11	T	A	15: 66,252,323 (GRCm39)	M448L	probably benign	Het
Dnah2	A	T	11: 69,313,952 (GRCm39)	M4140K	probably damaging	Het
Dph5	A	G	3: 115,722,352 (GRCm39)	S277G	probably benign	Het
Eftud2	A	T	11: 102,755,597 (GRCm39)	D203E	probably damaging	Het
Egf	A	G	3: 129,499,882 (GRCm39)	Y252H	probably benign	Het
Egf	A	G	3: 129,531,198 (GRCm39)	S126P	probably damaging	Het
Faf1	C	T	4: 109,748,138 (GRCm39)	A481V	probably benign	Het
Fat2	A	T	11: 55,153,655 (GRCm39)	V3519D	probably damaging	Het
Fbln7	C	A	2: 128,719,431 (GRCm39)	A76E	probably benign	Het
Galnt1	A	T	18: 24,387,582 (GRCm39)	K49N	probably benign	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Grk1	T	C	8: 13,459,279 (GRCm39)	Y277H	probably damaging	Het
Hap1	A	G	11: 100,240,131 (GRCm39)	L555P	probably damaging	Het
Ier3	T	C	17: 36,133,000 (GRCm39)	I94T	possibly damaging	Het
Il11	T	C	7: 4,779,023 (GRCm39)	T36A	probably damaging	Het
Il5ra	A	T	6: 106,708,851 (GRCm39)	D296E	probably damaging	Het
Itk	A	T	11: 46,222,816 (GRCm39)	V551E	probably damaging	Het
Kcna2	T	A	3: 107,012,476 (GRCm39)	D352E	probably benign	Het
Kif5a	A	T	10: 127,071,521 (GRCm39)	S776T	probably benign	Het
Klrb1c	T	C	6: 128,757,366 (GRCm39)	E233G	probably benign	Het
Kpna7	T	C	5: 144,944,804 (GRCm39)	K12R	possibly damaging	Het
Lhpp	C	T	7: 132,212,406 (GRCm39)		probably benign	Het
Lhx8	A	T	3: 154,033,808 (GRCm39)		probably null	Het
Magel2	T	A	7: 62,027,778 (GRCm39)	H227Q	possibly damaging	Het
Man1a	A	G	10: 53,950,594 (GRCm39)	V176A	probably damaging	Het
Mapkbp1	T	A	2: 119,853,632 (GRCm39)	M1152K	probably benign	Het
Mcoln3	T	A	3: 145,846,331 (GRCm39)	L547*	probably null	Het
Myof	T	C	19: 37,904,952 (GRCm39)	D1624G	probably damaging	Het
Myom2	T	C	8: 15,154,123 (GRCm39)	V687A	probably benign	Het
Nav1	C	A	1: 135,379,945 (GRCm39)	V1586F	possibly damaging	Het
Ndufb8	T	C	19: 44,538,784 (GRCm39)	E179G	possibly damaging	Het
Nfam1	T	C	15: 82,885,684 (GRCm39)	T223A	probably damaging	Het
Nrcam	T	A	12: 44,598,124 (GRCm39)	V371E	probably damaging	Het
Nup210l	A	G	3: 90,087,518 (GRCm39)	Q1097R	probably null	Het
Obox5	T	A	7: 15,491,571 (GRCm39)	M37K	probably damaging	Het
Obscn	A	T	11: 58,952,356 (GRCm39)	N4270K	probably benign	Het
Or4d2	G	A	11: 87,784,022 (GRCm39)	H243Y	probably damaging	Het
Or5ak25	T	A	2: 85,268,630 (GRCm39)	S291C	probably damaging	Het
Or6c1	A	G	10: 129,517,708 (GRCm39)	M300T	probably benign	Het
Or8c15	G	A	9: 38,120,360 (GRCm39)	A2T	probably benign	Het
Or8k16	T	C	2: 85,520,183 (GRCm39)	S137P	possibly damaging	Het
Patj	G	A	4: 98,562,545 (GRCm39)	E1505K	probably damaging	Het
Pnliprp1	T	A	19: 58,726,628 (GRCm39)	Y328*	probably null	Het
Ppp1r36	G	A	12: 76,465,741 (GRCm39)	E43K	probably damaging	Het
Ptch1	C	T	13: 63,668,121 (GRCm39)	V939I	probably damaging	Het
Rgs22	C	A	15: 36,093,084 (GRCm39)	K396N	probably damaging	Het
Rsrc1	A	T	3: 67,088,194 (GRCm39)	H176L	probably damaging	Het
Ryr3	A	T	2: 112,492,046 (GRCm39)	F3743L	probably damaging	Het
Scn7a	C	T	2: 66,506,084 (GRCm39)	G1602R	probably benign	Het
Sftpc	A	T	14: 70,760,110 (GRCm39)	V49E	probably damaging	Het
Slc16a10	A	G	10: 39,916,612 (GRCm39)	V430A	probably benign	Het
Slco4c1	A	C	1: 96,795,645 (GRCm39)	S138A	possibly damaging	Het
Snd1	T	C	6: 28,724,955 (GRCm39)	I501T	probably benign	Het
Stxbp2	T	A	8: 3,682,559 (GRCm39)	D49E	probably damaging	Het
Sytl4	A	T	X: 132,862,936 (GRCm39)	D16E	probably benign	Het
Tbc1d9b	G	A	11: 50,035,894 (GRCm39)	G130E	probably benign	Het
Tdrd6	T	A	17: 43,936,452 (GRCm39)	D1532V	probably damaging	Het
Tekt1	T	C	11: 72,242,778 (GRCm39)	D243G	probably damaging	Het
Tet2	A	G	3: 133,192,427 (GRCm39)	L669S	possibly damaging	Het
Tnnt3	A	G	7: 142,066,072 (GRCm39)	N201S	probably benign	Het
Trdn	A	G	10: 33,342,417 (GRCm39)		probably null	Het
Trim36	T	C	18: 46,311,523 (GRCm39)	E259G	possibly damaging	Het
Trpm1	C	T	7: 63,870,002 (GRCm39)	P436S	probably benign	Het
Vmn1r183	T	A	7: 23,754,926 (GRCm39)	L243Q	probably damaging	Het
Vps13b	T	C	15: 35,597,555 (GRCm39)	S1032P	probably damaging	Het
Vps37d	T	C	5: 135,105,395 (GRCm39)	E76G	probably damaging	Het
Vps72	A	G	3: 95,028,615 (GRCm39)	H202R	probably benign	Het
Wdr75	T	C	1: 45,858,762 (GRCm39)	S644P	probably damaging	Het
Wrn	T	A	8: 33,770,843 (GRCm39)	E697V	possibly damaging	Het
Xirp2	A	G	2: 67,345,262 (GRCm39)	D2501G	probably benign	Het
Zfp472	T	C	17: 33,194,936 (GRCm39)	W24R	probably damaging	Het

Other mutations in Zmym6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Zmym6	APN	4	126,995,742 (GRCm39)	nonsense	probably null
IGL00486:Zmym6	APN	4	127,017,978 (GRCm39)	utr 5 prime	probably benign
IGL01017:Zmym6	APN	4	126,982,152 (GRCm39)	missense	probably benign	0.00
IGL01385:Zmym6	APN	4	127,017,899 (GRCm39)	missense	probably benign	0.02
IGL01577:Zmym6	APN	4	126,999,223 (GRCm39)	missense	probably damaging	1.00
IGL01654:Zmym6	APN	4	127,017,519 (GRCm39)	missense	probably damaging	1.00
IGL01736:Zmym6	APN	4	127,002,437 (GRCm39)	missense	probably damaging	1.00
IGL01824:Zmym6	APN	4	127,002,499 (GRCm39)	missense	probably damaging	0.99
IGL01916:Zmym6	APN	4	127,017,549 (GRCm39)	missense	probably damaging	0.98
IGL01985:Zmym6	APN	4	126,994,541 (GRCm39)	missense	probably damaging	1.00
IGL02056:Zmym6	APN	4	126,997,207 (GRCm39)	missense	probably damaging	1.00
IGL02477:Zmym6	APN	4	126,972,295 (GRCm39)	nonsense	probably null
IGL02754:Zmym6	APN	4	127,003,764 (GRCm39)	splice site	probably benign
IGL03344:Zmym6	APN	4	127,014,314 (GRCm39)	missense	probably damaging	1.00
IGL03412:Zmym6	APN	4	126,986,731 (GRCm39)	missense	probably damaging	1.00
R0335:Zmym6	UTSW	4	127,016,601 (GRCm39)	missense	probably damaging	1.00
R0448:Zmym6	UTSW	4	127,002,487 (GRCm39)	missense	probably benign	0.01
R0538:Zmym6	UTSW	4	127,017,162 (GRCm39)	missense	probably benign	0.21
R0789:Zmym6	UTSW	4	127,016,615 (GRCm39)	missense	possibly damaging	0.52
R0798:Zmym6	UTSW	4	126,997,316 (GRCm39)	missense	probably benign	0.00
R1311:Zmym6	UTSW	4	127,017,151 (GRCm39)	missense	probably damaging	1.00
R1351:Zmym6	UTSW	4	127,016,798 (GRCm39)	missense	probably benign	0.00
R1429:Zmym6	UTSW	4	127,017,672 (GRCm39)	missense	probably damaging	1.00
R1636:Zmym6	UTSW	4	127,017,560 (GRCm39)	missense	probably damaging	0.99
R1666:Zmym6	UTSW	4	127,016,652 (GRCm39)	missense	probably damaging	0.98
R1919:Zmym6	UTSW	4	126,997,207 (GRCm39)	missense	probably damaging	1.00
R2058:Zmym6	UTSW	4	126,982,208 (GRCm39)	nonsense	probably null
R3957:Zmym6	UTSW	4	127,017,089 (GRCm39)	missense	possibly damaging	0.68
R3978:Zmym6	UTSW	4	127,017,348 (GRCm39)	missense	possibly damaging	0.71
R4417:Zmym6	UTSW	4	126,986,781 (GRCm39)	missense	probably damaging	1.00
R4801:Zmym6	UTSW	4	127,017,009 (GRCm39)	missense	probably benign	0.19
R4802:Zmym6	UTSW	4	127,017,009 (GRCm39)	missense	probably benign	0.19
R5052:Zmym6	UTSW	4	127,017,767 (GRCm39)	missense	possibly damaging	0.92
R5105:Zmym6	UTSW	4	127,017,551 (GRCm39)	missense	probably benign	0.33
R5217:Zmym6	UTSW	4	126,999,167 (GRCm39)	missense	possibly damaging	0.76
R5682:Zmym6	UTSW	4	126,998,200 (GRCm39)	missense	probably damaging	1.00
R5841:Zmym6	UTSW	4	126,994,463 (GRCm39)	missense	possibly damaging	0.71
R5991:Zmym6	UTSW	4	127,002,266 (GRCm39)	splice site	probably null
R6478:Zmym6	UTSW	4	127,017,176 (GRCm39)	missense	possibly damaging	0.86
R7014:Zmym6	UTSW	4	127,017,337 (GRCm39)	nonsense	probably null
R7287:Zmym6	UTSW	4	127,016,775 (GRCm39)	missense	possibly damaging	0.50
R7290:Zmym6	UTSW	4	127,017,294 (GRCm39)	missense	possibly damaging	0.73
R7371:Zmym6	UTSW	4	126,998,106 (GRCm39)	missense	probably damaging	1.00
R7967:Zmym6	UTSW	4	127,016,453 (GRCm39)	missense	probably benign	0.03
R8237:Zmym6	UTSW	4	127,016,544 (GRCm39)	missense	probably damaging	0.99
R8306:Zmym6	UTSW	4	127,016,355 (GRCm39)	missense	probably damaging	1.00
R8312:Zmym6	UTSW	4	127,017,627 (GRCm39)	missense	probably damaging	1.00
R9090:Zmym6	UTSW	4	127,017,854 (GRCm39)	missense	probably damaging	0.99
R9216:Zmym6	UTSW	4	127,002,500 (GRCm39)	missense	probably benign	0.00
R9271:Zmym6	UTSW	4	127,017,854 (GRCm39)	missense	probably damaging	0.99
R9695:Zmym6	UTSW	4	127,016,340 (GRCm39)	missense	probably benign
X0025:Zmym6	UTSW	4	127,016,143 (GRCm39)	missense	possibly damaging	0.60
X0067:Zmym6	UTSW	4	126,998,107 (GRCm39)	missense	probably damaging	1.00
Z1177:Zmym6	UTSW	4	127,017,590 (GRCm39)	missense	not run

Predicted Primers

Posted On

2013-05-23