Mutagenetix > Incidental Mutations

Incidental Mutation 'R5615:Zmym1'

438179

Institutional Source

Beutler Lab

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: 0.234) question?

Stock #

R5615 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127047094-127061152 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127049398 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 301 (I301N)

Ref Sequence

ENSEMBL: ENSMUSP00000101705 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000055013
AA Change: I399N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000050669
Gene: ENSMUSG00000043872
AA Change: I399N

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: I301N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101705
Gene: ENSMUSG00000043872
AA Change: I301N

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: I399N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101708
Gene: ENSMUSG00000043872
AA Change: I399N

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

probably benign
Transcript: ENSMUST00000136186

SMART Domains

Protein: ENSMUSP00000120772
Gene: ENSMUSG00000043872

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137236

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152607

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,606,759	L407H	probably damaging	Het
Abca12	A	T	1: 71,307,059	L884H	probably damaging	Het
Ahr	A	G	12: 35,503,885	V745A	probably benign	Het
Ankrd17	A	T	5: 90,283,436	S830T	possibly damaging	Het
Aox1	A	G	1: 58,096,966	T1123A	probably benign	Het
Arhgef11	T	C	3: 87,722,485		probably null	Het
Bcas3	T	A	11: 85,470,761	C250S	probably damaging	Het
Bckdk	T	C	7: 127,907,317	I272T	probably damaging	Het
Cacna1e	T	C	1: 154,412,170	K1897E	probably damaging	Het
Cd180	A	T	13: 102,706,203	I586F	probably benign	Het
Cep290	A	G	10: 100,531,150	D1121G	probably damaging	Het
Clasrp	A	G	7: 19,586,447		probably benign	Het
Col27a1	G	T	4: 63,281,114	K912N	probably damaging	Het
Dock4	G	T	12: 40,649,480	R231L	probably benign	Het
Ell	G	A	8: 70,590,732	S505N	probably benign	Het
Ephb6	A	G	6: 41,619,291	T833A	probably benign	Het
Hemk1	T	A	9: 107,330,824		probably null	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hspa12a	T	C	19: 58,804,650	I368V	possibly damaging	Het
Igkv3-3	A	T	6: 70,687,230	T19S	probably benign	Het
Itpr1	G	A	6: 108,488,600	A2158T	possibly damaging	Het
Lancl2	T	C	6: 57,722,511	Y104H	probably damaging	Het
Leng8	G	T	7: 4,144,958	E634*	probably null	Het
Lrrk1	A	T	7: 66,287,615	C930S	probably damaging	Het
Lvrn	C	T	18: 46,850,328	S46L	possibly damaging	Het
Mcidas	G	A	13: 112,997,425	V148I	probably benign	Het
Mprip	A	T	11: 59,758,487	T1006S	probably benign	Het
Mrgprb3	T	A	7: 48,643,486	M106L	probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mtor	G	A	4: 148,538,276	V1938I	possibly damaging	Het
Muc2	A	G	7: 141,691,203	D46G	probably damaging	Het
Nfkb2	G	T	19: 46,307,567	E170D	probably benign	Het
Olfr1113	T	A	2: 87,213,739	F282L	probably benign	Het
Olfr811	A	T	10: 129,801,767	C253S	probably damaging	Het
Osbp2	C	T	11: 3,863,356	G171D	probably benign	Het
Otud6b	A	T	4: 14,818,187	M238K	possibly damaging	Het
Pcdhac2	G	A	18: 37,146,423	G819R	probably benign	Het
Pcdhac2	G	T	18: 37,146,424	G819V	probably benign	Het
Pcdhga12	T	G	18: 37,768,079	S655A	probably damaging	Het
Pkd1l3	A	G	8: 109,630,210	I756V	probably benign	Het
Plekhd1	T	A	12: 80,720,590	S251T	probably damaging	Het
Ppp2r1a	A	T	17: 20,958,987	T96S	probably benign	Het
Qser1	A	C	2: 104,789,694	S258A	possibly damaging	Het
Rsph4a	G	A	10: 33,909,328	A412T	probably benign	Het
Sass6	T	A	3: 116,607,486	C159S	probably benign	Het
Scaf4	T	C	16: 90,251,960	Q322R	unknown	Het
Sema6d	C	T	2: 124,656,901	H244Y	probably damaging	Het
Sigirr	T	G	7: 141,092,719	L163F	probably damaging	Het
Spata31d1c	C	A	13: 65,035,264	L207I	possibly damaging	Het
Tacstd2	A	G	6: 67,535,049	F220L	probably damaging	Het
Tdpoz4	A	T	3: 93,797,499	T368S	probably benign	Het
Tnxb	C	A	17: 34,683,418	Q1082K	probably damaging	Het
Trim41	GCCTAGGCGCCCA	G	11: 48,807,365		probably benign	Het
Trpm6	C	T	19: 18,829,933	R1014C	probably damaging	Het
Ugt1a10	TTCATCA	TTCA	1: 88,216,158		probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r61	A	G	7: 42,300,493	E779G	probably damaging	Het
Vmn2r61	T	A	7: 42,267,253	M430K	probably benign	Het
Zfp599	T	C	9: 22,253,869	D70G	probably benign	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
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
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'- TAATCTCCTCCTGGACAAGCG -3'
(R):5'- TTTAGCTGTCGGAGAGAAGC -3'

Sequencing Primer
(F):5'- GTGCTGCTATAGAAGTCCACG -3'
(R):5'- TTTTGCAACCCAAGGAACTGCTG -3'

Posted On

2016-10-26