Mutagenetix > Incidental Mutations

Incidental Mutation 'R0416:Zmym1'

40302

Institutional Source

Beutler Lab

Gene Symbol

Zmym1

Ensembl Gene

ENSMUSG00000043872

Gene Name

zinc finger, MYM domain containing 1

Synonyms

MMRRC Submission

038618-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R0416 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

127047094-127061152 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127058820 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 56 (L56P)

Ref Sequence

ENSEMBL: ENSMUSP00000101708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055013] [ENSMUST00000106099] [ENSMUST00000106102] [ENSMUST00000136186]

Predicted Effect

probably benign
Transcript: ENSMUST00000055013
AA Change: L56P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000050669
Gene: ENSMUSG00000043872
AA Change: L56P

Domain	Start	End	E-Value	Type
Pfam:zf-FCS	6	46	2.4e-8	PFAM
Pfam:zf-FCS	53	96	1.6e-10	PFAM
low complexity region	155	168	N/A	INTRINSIC
low complexity region	229	243	N/A	INTRINSIC
Pfam:DUF4371	335	569	4.9e-55	PFAM
Pfam:Dimer_Tnp_hAT	870	959	5.1e-18	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000106099
AA Change: L56P

SMART Domains

Protein: ENSMUSP00000101705
Gene: ENSMUSG00000043872
AA Change: L56P

Domain	Start	End	E-Value	Type
Pfam:zf-FCS	6	46	3.3e-9	PFAM
Pfam:zf-FCS	53	96	4.6e-10	PFAM
low complexity region	155	168	N/A	INTRINSIC
Pfam:DUF4371	237	471	2.8e-52	PFAM
Pfam:Dimer_Tnp_hAT	772	861	5.3e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106102
AA Change: L56P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101708
Gene: ENSMUSG00000043872
AA Change: L56P

Domain	Start	End	E-Value	Type
Pfam:zf-FCS	6	46	7.8e-9	PFAM
Pfam:zf-FCS	53	96	1.1e-9	PFAM
low complexity region	155	168	N/A	INTRINSIC
low complexity region	229	243	N/A	INTRINSIC
Pfam:DUF4371	335	569	7.4e-52	PFAM
Pfam:Dimer_Tnp_hAT	870	959	1.7e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124429

Predicted Effect

probably benign
Transcript: ENSMUST00000136186
AA Change: L56P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120772
Gene: ENSMUSG00000043872
AA Change: L56P

Domain	Start	End	E-Value	Type
Pfam:zf-FCS	6	46	1.5e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152607

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 91.8%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,563,556	I18V	probably benign	Het
Adamdec1	T	G	14: 68,568,712	E438A	possibly damaging	Het
Adamts17	A	G	7: 66,915,898		probably null	Het
Ankrd44	T	G	1: 54,743,339	I359L	possibly damaging	Het
Ap2s1	C	A	7: 16,747,365	N86K	probably damaging	Het
Arih1	T	A	9: 59,426,710		probably benign	Het
Astn1	T	A	1: 158,509,891	I389N	probably damaging	Het
Brca2	T	C	5: 150,569,392	S3291P	possibly damaging	Het
Cacna1d	T	C	14: 30,100,688		probably benign	Het
Ccl7	C	A	11: 82,045,866		probably benign	Het
Cd74	A	T	18: 60,811,414	Y232F	possibly damaging	Het
Cep128	A	G	12: 91,230,867		probably benign	Het
Cep89	T	A	7: 35,416,402		probably benign	Het
Cmya5	T	G	13: 93,089,856	N2908T	probably benign	Het
Coil	T	C	11: 88,981,986	L391S	possibly damaging	Het
Cpd	C	T	11: 76,785,204	V1208I	probably benign	Het
Ddx19a	T	C	8: 110,979,057	D254G	probably damaging	Het
Desi2	T	A	1: 178,256,321		probably benign	Het
Dnah11	A	T	12: 117,911,058	M4024K	probably damaging	Het
Ergic2	A	T	6: 148,183,144	L53H	probably damaging	Het
Etv2	T	C	7: 30,634,633	Y225C	probably benign	Het
F10	G	A	8: 13,055,448	A338T	probably damaging	Het
Fam228b	T	A	12: 4,762,382	D132V	probably damaging	Het
Fat2	T	A	11: 55,284,134	I1918F	possibly damaging	Het
Fbxw5	C	T	2: 25,503,239	S214F	probably damaging	Het
Glyat	G	A	19: 12,651,453	R204Q	possibly damaging	Het
Gm4825	T	C	15: 85,510,981		noncoding transcript	Het
Ino80d	G	T	1: 63,086,276	T9K	possibly damaging	Het
Lifr	A	T	15: 7,166,914	D193V	probably damaging	Het
Lrp12	G	T	15: 39,878,911		probably benign	Het
Lrp3	A	G	7: 35,202,353	V701A	probably benign	Het
Mfsd11	T	A	11: 116,865,882		probably benign	Het
Mrto4	A	T	4: 139,349,732		probably null	Het
Msi1	T	C	5: 115,430,649	F43L	possibly damaging	Het
Mthfsd	T	C	8: 121,101,237	D168G	probably damaging	Het
Myo15	T	A	11: 60,511,174	V3099E	probably damaging	Het
Myrf	T	C	19: 10,215,812		probably null	Het
Nadk	C	A	4: 155,587,799		probably benign	Het
Nav1	T	C	1: 135,471,126	K573E	possibly damaging	Het
Ndufs3	A	G	2: 90,898,388	V207A	probably damaging	Het
Nlrp3	T	C	11: 59,555,924		probably benign	Het
Nlrx1	T	G	9: 44,262,914	D330A	probably benign	Het
Olfr331	T	C	11: 58,502,396	I53M	unknown	Het
Olfr444	G	A	6: 42,955,570	C24Y	probably benign	Het
Osbpl3	C	T	6: 50,348,018	V167I	probably benign	Het
Pcnx	A	T	12: 81,974,466	I1410F	probably benign	Het
Piezo2	G	A	18: 63,024,491	R2383C	probably damaging	Het
Pip5kl1	A	T	2: 32,583,424	K358*	probably null	Het
Polg	T	C	7: 79,452,240		probably benign	Het
Prr14l	T	A	5: 32,828,717	I1145F	probably benign	Het
Psmb1	C	T	17: 15,494,519	V39I	probably benign	Het
Ptk6	T	C	2: 181,202,308	Y66C	possibly damaging	Het
Robo4	T	C	9: 37,404,766		probably benign	Het
Sdk2	A	G	11: 113,803,203	Y1801H	probably damaging	Het
Serpinb3a	C	A	1: 107,049,386	A95S	probably benign	Het
Setd1a	CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,785,297		probably benign	Het
Sik2	A	T	9: 50,995,632	Y98N	probably damaging	Het
Slc30a1	C	T	1: 191,909,726	P495S	probably benign	Het
Smg1	A	T	7: 118,184,461		probably benign	Het
Stk3	T	A	15: 35,114,632	I45L	probably benign	Het
Tapbp	A	G	17: 33,925,418	T163A	probably damaging	Het
Tdrd5	T	C	1: 156,285,481	K410E	probably damaging	Het
Trim30b	A	T	7: 104,363,766	M152K	probably benign	Het
Trpm6	G	T	19: 18,783,025		probably benign	Het
Tsc22d1	T	C	14: 76,505,303		probably benign	Het
U2surp	A	T	9: 95,485,607	F444I	probably damaging	Het
Vmn2r95	C	T	17: 18,441,402	P470L	probably damaging	Het
Zc3h4	T	G	7: 16,420,275	Y163D	probably damaging	Het
Zfp62	A	T	11: 49,215,676	H198L	probably damaging	Het

Other mutations in Zmym1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Zmym1	APN	4	127049642	missense	probably damaging	1.00
IGL02326:Zmym1	APN	4	127047760	missense	probably damaging	1.00
IGL02392:Zmym1	APN	4	127048463	missense	probably damaging	1.00
IGL02431:Zmym1	APN	4	127047764	nonsense	probably null
IGL02512:Zmym1	APN	4	127048672	missense	probably damaging	1.00
IGL03303:Zmym1	APN	4	127049134	missense	probably damaging	1.00
R0195:Zmym1	UTSW	4	127047911	missense	possibly damaging	0.85
R0266:Zmym1	UTSW	4	127048025	missense	possibly damaging	0.86
R1374:Zmym1	UTSW	4	127049611	missense	probably damaging	1.00
R1480:Zmym1	UTSW	4	127048612	missense	probably damaging	0.99
R1704:Zmym1	UTSW	4	127048384	missense	probably damaging	1.00
R1806:Zmym1	UTSW	4	127048079	missense	probably damaging	1.00
R1815:Zmym1	UTSW	4	127049021	missense	possibly damaging	0.76
R2124:Zmym1	UTSW	4	127049570	missense	probably benign	0.05
R2169:Zmym1	UTSW	4	127054203	splice site	probably null
R4027:Zmym1	UTSW	4	127049879	missense	probably benign	0.08
R4410:Zmym1	UTSW	4	127048104	nonsense	probably null
R4572:Zmym1	UTSW	4	127050835	missense	probably benign	0.39
R4788:Zmym1	UTSW	4	127054297	missense	probably benign	0.10
R5120:Zmym1	UTSW	4	127051437	splice site	probably null
R5130:Zmym1	UTSW	4	127048658	missense	probably damaging	1.00
R5615:Zmym1	UTSW	4	127049398	missense	probably damaging	1.00
R6190:Zmym1	UTSW	4	127047884	missense	probably damaging	0.99
R7426:Zmym1	UTSW	4	127049398	missense	possibly damaging	0.81
R7464:Zmym1	UTSW	4	127058935	nonsense	probably null
R7540:Zmym1	UTSW	4	127048757	missense	probably benign
R7779:Zmym1	UTSW	4	127054245	missense	probably benign
R7807:Zmym1	UTSW	4	127047874	missense	probably damaging	1.00
R7876:Zmym1	UTSW	4	127047703	missense	probably damaging	0.98
R7959:Zmym1	UTSW	4	127047703	missense	probably damaging	0.98
T0722:Zmym1	UTSW	4	127047947	missense	probably benign	0.00
T0722:Zmym1	UTSW	4	127048250	missense	probably benign	0.01
T0722:Zmym1	UTSW	4	127049673	missense	probably benign	0.05
T0975:Zmym1	UTSW	4	127047947	missense	probably benign	0.00
T0975:Zmym1	UTSW	4	127048250	missense	probably benign	0.01
T0975:Zmym1	UTSW	4	127049673	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CCCACACGTTATCCACGTTCTGAG -3'
(R):5'- AAGCTCCACAGTTGACGGTCTTC -3'

Sequencing Primer
(F):5'- AAAGAGGGTCTCAATGCTTCTCC -3'
(R):5'- CACCTGACTTGAATAAAATGCTTCC -3'

Posted On

2013-05-23