Mutagenetix > Incidental Mutation

Incidental Mutation 'R4572:Zmym1'

342184

Institutional Source

Beutler Lab

Gene Symbol

Zmym1

Ensembl Gene

ENSMUSG00000043872

Gene Name

zinc finger, MYM domain containing 1

Synonyms

MMRRC Submission

041796-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R4572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127047094-127061152 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127050835 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 186 (N186K)

Ref Sequence

ENSEMBL: ENSMUSP00000101708 (fasta)

Gene Model

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

AlphaFold

Q3TJB1

Predicted Effect

probably benign
Transcript: ENSMUST00000055013
AA Change: N186K

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000050669
Gene: ENSMUSG00000043872
AA Change: N186K

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: N186K

SMART Domains

Protein: ENSMUSP00000101705
Gene: ENSMUSG00000043872
AA Change: N186K

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: N186K

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101708
Gene: ENSMUSG00000043872
AA Change: N186K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,216,548	I747N	probably benign	Het
Adamtsl2	A	G	2: 27,083,256	Y97C	probably damaging	Het
Alox12e	A	G	11: 70,321,181		probably benign	Het
Alpk2	A	T	18: 65,281,004	S2014T	probably damaging	Het
Ankrd36	A	T	11: 5,689,340		probably null	Het
Apobec1	T	C	6: 122,581,397	D133G	probably damaging	Het
Arfgef1	A	T	1: 10,213,141	I181N	probably damaging	Het
C130060K24Rik	A	T	6: 65,454,991	M293L	probably benign	Het
Cilp2	A	G	8: 69,882,410	V646A	probably damaging	Het
Clasrp	A	G	7: 19,584,464		probably null	Het
Cnot2	T	C	10: 116,494,846	T423A	probably benign	Het
Crtap	T	C	9: 114,384,806	D227G	probably benign	Het
Cyp17a1	A	G	19: 46,670,551	F217S	probably damaging	Het
Ddx60	A	G	8: 61,987,421	M1036V	probably damaging	Het
Dnah11	A	T	12: 118,010,125	I2818N	probably benign	Het
Dok6	T	A	18: 89,473,947	I169F	possibly damaging	Het
Duox2	T	A	2: 122,281,726	R1326S	probably benign	Het
Epha10	A	G	4: 124,902,568	T357A	unknown	Het
Ephb2	A	C	4: 136,655,940	F942C	probably damaging	Het
Fscn3	T	A	6: 28,430,635		probably null	Het
Gabrb2	A	G	11: 42,593,917	N267S	possibly damaging	Het
Gabrr3	A	T	16: 59,461,638	Y452F	probably benign	Het
Gen1	A	G	12: 11,242,418	S457P	probably damaging	Het
Gm1993	C	T	X: 25,560,356	R77H	probably damaging	Het
Gm5592	G	A	7: 41,216,159		probably benign	Het
Hmbox1	A	G	14: 64,903,233		probably null	Het
Hus1	A	T	11: 9,007,617		probably null	Het
Ino80	G	A	2: 119,402,358	R1160W	probably damaging	Het
Kalrn	A	T	16: 34,392,042	F27L	probably damaging	Het
Kri1	A	T	9: 21,280,384	F187L	probably damaging	Het
Lekr1	A	T	3: 65,783,915		noncoding transcript	Het
Mapk15	T	C	15: 75,998,750		probably benign	Het
Mrgpre	G	A	7: 143,781,104	L221F	probably damaging	Het
Mrpl50	A	T	4: 49,514,399	S91T	possibly damaging	Het
Muc4	T	C	16: 32,753,802	I1226T	probably benign	Het
Mup15	A	G	4: 61,438,217		probably null	Het
Ncapd3	A	G	9: 27,094,615	D1469G	probably damaging	Het
Nlrp9b	G	A	7: 20,026,681		probably null	Het
Npy6r	A	T	18: 44,275,917	Y135F	probably benign	Het
Olfr862	A	C	9: 19,883,979	C109G	probably benign	Het
Phf14	G	A	6: 12,006,824	R825Q	probably damaging	Het
Pigg	A	G	5: 108,332,885	M379V	probably benign	Het
Plppr3	T	A	10: 79,866,063	Q315L	probably benign	Het
Plxnd1	C	A	6: 115,955,756	C1921F	probably damaging	Het
Ptger4	A	C	15: 5,243,133	S2A	probably benign	Het
Rab4a	A	T	8: 123,834,060	D196V	probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rgs14	A	T	13: 55,380,062	N266I	probably damaging	Het
Serpina1c	A	T	12: 103,898,708		probably benign	Het
Sesn3	G	A	9: 14,321,220	R263H	probably benign	Het
Slfn1	A	T	11: 83,121,463	D135V	probably benign	Het
Spata17	T	C	1: 187,193,996	K46E	possibly damaging	Het
Srcin1	A	C	11: 97,534,934	D432E	probably damaging	Het
Stxbp5	T	C	10: 9,838,144	E217G	probably damaging	Het
Terf2ip	A	G	8: 112,012,017	D179G	probably damaging	Het
Tll1	A	G	8: 64,056,309	F556L	possibly damaging	Het
Tmed4	CTCTTTCT	CTCT	11: 6,274,461		probably null	Het
Trappc9	G	T	15: 72,937,067	Q537K	possibly damaging	Het
Trim30a	G	T	7: 104,411,188	C460*	probably null	Het
Trim35	T	C	14: 66,307,873	Y298H	probably damaging	Het
Ugt3a1	T	A	15: 9,306,393	H209Q	probably benign	Het
Ulk4	T	C	9: 121,192,764	K627R	probably damaging	Het
Wnk1	T	C	6: 119,951,911	T1319A	possibly damaging	Het
Wnt9b	G	A	11: 103,732,155	R141C	probably damaging	Het
Zfp735	A	G	11: 73,689,785	M37V	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
BB009:Zmym1	UTSW	4	127050785	missense	possibly damaging	0.77
BB019:Zmym1	UTSW	4	127050785	missense	possibly damaging	0.77
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
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
R7932:Zmym1	UTSW	4	127050785	missense	possibly damaging	0.77
R8183:Zmym1	UTSW	4	127058856	missense	probably benign	0.07
R8276:Zmym1	UTSW	4	127054258	missense	probably damaging	0.99
R8744:Zmym1	UTSW	4	127051372	missense	probably damaging	1.00
R8798:Zmym1	UTSW	4	127049871	missense	possibly damaging	0.90
R9199:Zmym1	UTSW	4	127050830	missense	possibly damaging	0.80
R9385:Zmym1	UTSW	4	127058890	missense	probably damaging	1.00
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'- CTGTCGAGACAAATGAAAGCAC -3'
(R):5'- ATGCCCACCAGGTGTTATG -3'

Sequencing Primer
(F):5'- CACTTTAATAGCACCATAAGCTCATG -3'
(R):5'- TATGGTGGGCAAGCATTCTCCC -3'

Posted On

2015-09-24