Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02326:Zmym1'

288464

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zmym1

Ensembl Gene

ENSMUSG00000043872

Gene Name

zinc finger, MYM domain containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

IGL02326

Quality Score

Status

Chromosome

Chromosomal Location

127047094-127061152 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127047760 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 847 (E847G)

Ref Sequence

ENSEMBL: ENSMUSP00000101705 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000055013
AA Change: E945G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050669
Gene: ENSMUSG00000043872
AA Change: E945G

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

probably damaging
Transcript: ENSMUST00000106099
AA Change: E847G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101705
Gene: ENSMUSG00000043872
AA Change: E847G

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 damaging
Transcript: ENSMUST00000106102
AA Change: E945G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101708
Gene: ENSMUSG00000043872
AA Change: E945G

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: ENSMUST00000117934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137236

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152607

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	T	C	3: 121,671,402	V29A	unknown	Het
Abcc8	C	A	7: 46,122,857		probably null	Het
Ankar	A	T	1: 72,666,355	I614N	probably damaging	Het
Ash1l	G	A	3: 88,966,057	R49H	probably benign	Het
Atp8b1	T	C	18: 64,538,583	H1123R	probably damaging	Het
Casp12	T	C	9: 5,358,317	Y375H	possibly damaging	Het
Cbl	A	G	9: 44,151,473	I861T	possibly damaging	Het
Cdh20	T	C	1: 104,975,039	L485P	probably damaging	Het
Cobl	A	T	11: 12,386,712	N25K	possibly damaging	Het
Col14a1	T	C	15: 55,418,797	V818A	unknown	Het
Csmd3	G	A	15: 47,755,963		probably benign	Het
Dpp6	A	G	5: 27,664,757	Y509C	probably damaging	Het
Fabp2	C	T	3: 122,898,746	R96C	probably damaging	Het
Fam53a	T	C	5: 33,600,594	D395G	probably damaging	Het
Gabrb1	T	A	5: 71,700,847	I72K	probably damaging	Het
Hmcn2	G	A	2: 31,450,952	S4479N	probably damaging	Het
Hrnr	C	T	3: 93,323,745	T430I	unknown	Het
Ighv1-53	T	A	12: 115,158,615	T47S	probably benign	Het
Ilk	C	A	7: 105,741,633	P261Q	probably damaging	Het
Ints10	T	G	8: 68,804,833	D228E	probably damaging	Het
Kcnq5	A	T	1: 21,402,592	S782R	probably benign	Het
Map3k4	A	G	17: 12,249,010	S1046P	probably damaging	Het
Musk	C	T	4: 58,354,113	P374S	probably benign	Het
Olfr1106	G	A	2: 87,049,011	S75L	possibly damaging	Het
Olfr1152	T	A	2: 87,868,675	I228N	probably damaging	Het
Olfr1462	C	A	19: 13,191,415	Y249*	probably null	Het
Olfr670	T	A	7: 104,960,646	I29F	probably benign	Het
Pkd2	T	C	5: 104,477,075	Y246H	probably benign	Het
Plekha5	G	T	6: 140,583,850	G340*	probably null	Het
Plxna4	T	A	6: 32,152,905	M1828L	probably damaging	Het
Prex1	A	G	2: 166,621,185	I252T	probably benign	Het
Pura	A	G	18: 36,287,778	D206G	probably damaging	Het
Rad54b	T	A	4: 11,612,713	F782I	probably damaging	Het
Rbp4	T	C	19: 38,124,115	D90G	probably damaging	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Scn7a	C	A	2: 66,700,048	R651L	probably benign	Het
Sh2d3c	A	T	2: 32,749,151		probably null	Het
Slc43a1	T	G	2: 84,849,771	L87R	probably damaging	Het
Sppl2c	A	G	11: 104,187,273	T300A	probably benign	Het
Srgap2	T	A	1: 131,356,907		probably null	Het
Tkt	G	A	14: 30,572,225	V531M	probably damaging	Het
Twsg1	T	C	17: 65,926,436	D173G	possibly damaging	Het
Ugt2b37	G	T	5: 87,241,002	H451N	probably benign	Het
Ugt2b38	C	T	5: 87,423,733	D147N	probably damaging	Het
Vmn1r15	T	C	6: 57,258,270	I41T	probably benign	Het
Vwa5a	A	T	9: 38,737,956	T667S	probably benign	Het
Xrn2	A	G	2: 147,047,713	E672G	probably benign	Het
Zfp235	T	A	7: 24,135,302	M1K	probably null	Het

Other mutations in Zmym1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Zmym1	APN	4	127049642	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
R0416:Zmym1	UTSW	4	127058820	missense	probably benign	0.00
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

Posted On

2015-04-16