Mutagenetix > Incidental Mutation

Incidental Mutation 'R7290:Zmym6'

566311

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127077383-127124372 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127123501 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1025 (A1025V)

Ref Sequence

ENSEMBL: ENSMUSP00000045366 (fasta)

Gene Model

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

AlphaFold

Q8BS54

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046751
AA Change: A1025V

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045366
Gene: ENSMUSG00000042408
AA Change: A1025V

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: A933V

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092303
Gene: ENSMUSG00000042408
AA Change: A933V

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 110,030,888	M1447L	probably benign	Het
Adam30	G	A	3: 98,162,941	V697I	probably benign	Het
Adamts12	A	G	15: 11,277,366	N689D	probably benign	Het
Adamts15	T	C	9: 30,902,610	K753R	probably benign	Het
Adra2a	T	C	19: 54,046,404	F64L	probably damaging	Het
Ankub1	A	G	3: 57,672,924	L104P	probably damaging	Het
Arel1	A	G	12: 84,941,945	V10A	probably benign	Het
Atad2	A	T	15: 58,098,651	N1165K	probably benign	Het
Atp6v0d2	T	A	4: 19,880,060	D279V	probably benign	Het
Cadps	A	T	14: 12,616,099	D310E	probably damaging	Het
Caskin2	T	C	11: 115,804,789	I249V	possibly damaging	Het
Cdh23	T	C	10: 60,376,841	N1598S	probably benign	Het
Cep250	A	T	2: 155,992,762	Q2202H	probably benign	Het
Ces5a	T	A	8: 93,534,683	T35S	probably damaging	Het
Cnot11	G	A	1: 39,539,939	W295*	probably null	Het
Cntnap5a	G	T	1: 116,221,889	W565L	probably damaging	Het
Dgka	T	C	10: 128,733,599	E148G	probably damaging	Het
Dnah14	G	A	1: 181,628,174	D955N	probably benign	Het
Erbin	G	A	13: 103,862,326	T184I	probably damaging	Het
Fam208a	T	A	14: 27,438,653	I124N	probably damaging	Het
Fam20c	G	T	5: 138,807,554	G477W	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fgfr4	T	C	13: 55,161,449	V433A	probably benign	Het
Gal3st1	A	T	11: 3,998,093	Q100L	possibly damaging	Het
Gfra2	T	C	14: 70,925,940	F221S	probably damaging	Het
Gm19965	G	A	1: 116,821,191	V201M		Het
Gm9573	G	A	17: 35,618,869	A1475V	unknown	Het
Gnb1l	A	T	16: 18,564,056	T282S	probably benign	Het
Gpr171	A	T	3: 59,097,726	N209K	probably benign	Het
Grasp	G	A	15: 101,231,538	S234N	probably damaging	Het
Greb1	G	A	12: 16,711,738	T547I	probably damaging	Het
Ifi214	A	T	1: 173,529,531	V2E	probably benign	Het
Ighv1-71	T	C	12: 115,742,647	M1V	probably null	Het
Itm2b	C	T	14: 73,368,345	G67D	probably damaging	Het
Kif21a	A	T	15: 90,967,229	C995*	probably null	Het
Kifc2	A	T	15: 76,660,704	Y13F	probably damaging	Het
Lamb1	T	A	12: 31,265,596	V59D	probably benign	Het
Lhx1	A	T	11: 84,521,877	D163E	probably damaging	Het
Lrrc1	A	T	9: 77,457,839	Y187N	probably benign	Het
Map3k1	C	A	13: 111,768,111	V380F	probably damaging	Het
Mapk11	T	C	15: 89,144,308	D283G	probably damaging	Het
Mccc2	G	T	13: 99,954,699	A430D	probably damaging	Het
Mest	A	G	6: 30,747,159	N340S	unknown	Het
Mms22l	T	C	4: 24,517,139	L340P	probably benign	Het
Mrnip	A	G	11: 50,196,981	Y110C	possibly damaging	Het
Mtmr4	A	G	11: 87,611,237	T706A	probably benign	Het
Ncstn	A	G	1: 172,072,806	F234S	probably benign	Het
Nrp1	T	C	8: 128,476,296		probably null	Het
Nup37	T	G	10: 88,174,494	C217G	probably damaging	Het
Olfr936	A	G	9: 39,047,398	L7P	unknown	Het
Pdzrn3	T	C	6: 101,151,245	N820S	probably benign	Het
Pgap1	A	T	1: 54,548,066	F117Y	possibly damaging	Het
Phip	A	T	9: 82,871,293	F1799L	possibly damaging	Het
Ppm1f	T	A	16: 16,910,955	F74I	probably benign	Het
Prpf8	C	A	11: 75,493,957	N775K	possibly damaging	Het
Ptdss2	T	C	7: 141,151,780	I167T	possibly damaging	Het
Ptpn18	G	A	1: 34,462,811		probably null	Het
Rbl2	C	A	8: 91,115,041	A955D	probably benign	Het
Rgl1	A	G	1: 152,544,395	S366P	possibly damaging	Het
Rit2	A	T	18: 31,243,168	M38K	possibly damaging	Het
Robo1	A	G	16: 73,004,520	M1011V	probably benign	Het
Senp6	A	T	9: 80,136,515	E809D	probably benign	Het
Stard3	G	A	11: 98,378,219		probably null	Het
Taar3	T	G	10: 23,950,400	Y281*	probably null	Het
Tacc2	G	T	7: 130,729,373	K352N	probably benign	Het
Tdpoz4	G	A	3: 93,796,848	V151I	not run	Het
Tenm2	A	G	11: 36,023,471	L2413P	probably damaging	Het
Tgm6	T	C	2: 130,141,190	V233A	probably damaging	Het
Tlx3	G	A	11: 33,203,514		probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Trim23	C	A	13: 104,187,433	H133Q	probably damaging	Het
Unc80	A	T	1: 66,601,197	D1421V	probably damaging	Het
Vmn1r172	A	G	7: 23,660,623	N311S	unknown	Het
Vps25	T	A	11: 101,258,949	L153Q	probably damaging	Het
Wbp1l	G	T	19: 46,623,437		probably benign	Het
Ythdc2	A	G	18: 44,837,491	I291V	possibly damaging	Het
Zfp2	A	G	11: 50,900,743	C158R	probably damaging	Het
Zfp786	G	A	6: 47,819,995	P670S	probably damaging	Het
Zfp827	G	A	8: 79,189,813	R339H	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
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
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'- CAGTGCTTCAGATTCACAAATGTTG -3'
(R):5'- TCTTCTGGTGGGTAACAGGC -3'

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

Posted On

2019-06-26