Mutagenetix > Incidental Mutation

Incidental Mutation 'T0975:Zmym1'

262147

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: 0.146) question?

Stock #

T0975 (G3) of strain 714

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127047094-127061152 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 127049673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 307 (H307Q)

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: H307Q

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000050669
Gene: ENSMUSG00000043872
AA Change: H307Q

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 benign
Transcript: ENSMUST00000106099

SMART Domains

Protein: ENSMUSP00000101705
Gene: ENSMUSG00000043872

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: H307Q

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101708
Gene: ENSMUSG00000043872
AA Change: H307Q

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: 99.4%
3x: 98.7%
10x: 97.0%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	TAA	TAAA	11: 3,937,945		probably null	Het
4930556J24Rik	C	T	11: 3,976,324	A27T	unknown	Het
Ago3	C	T	4: 126,404,263	V155I	probably benign	Het
Ago3	C	T	4: 126,404,305	A141T	probably benign	Het
Ago3	G	A	4: 126,404,310	A139V	probably benign	Het
Ahdc1	ACCTCCT	ACCTCCTCCT	4: 133,062,754		probably benign	Het
Azin2	A	G	4: 128,946,134	Y222H	probably benign	Het
Bpifb5	C	A	2: 154,229,464		probably null	Het
Ccdc157	C	T	11: 4,146,246	A455T	probably damaging	Het
Ccng1	A	C	11: 40,754,044	S9A	probably benign	Het
Cfh	T	C	1: 140,154,598	T164A	probably benign	Het
Cherp	TTGGACCTGGACCTGGACCTGGACCTGGA	TTGGACCTGGACCTGGACCTGGA	8: 72,462,034		probably benign	Het
Chrng	T	C	1: 87,210,626	S380P	probably benign	Het
Clspn	ACGGCGGCGGCGGCG	ACGGCGGCGGCGGCGGCGGCG	4: 126,566,437		probably benign	Het
Ctrc	T	TA	4: 141,845,196		probably null	Het
Cxxc1	C	T	18: 74,220,921	R593C	probably damaging	Het
Dlgap1	T	C	17: 70,516,955	S312P	possibly damaging	Het
Dnah10	A	G	5: 124,763,066	S1255G	probably benign	Het
Dpep1	A	T	8: 123,200,988	S388C	probably damaging	Het
Emid1	A	C	11: 5,128,884	L353V	probably benign	Het
Emid1	T	C	11: 5,144,386	T42A	probably damaging	Het
Epn3	A	G	11: 94,491,907		probably null	Het
Fam124b	T	C	1: 80,213,126	E180G	probably benign	Het
Fam135b	T	G	15: 71,463,885	T487P	probably damaging	Het
Gatsl3	G	C	11: 4,220,445	G147A	probably benign	Het
Gja4	G	C	4: 127,312,231	H246Q	probably benign	Het
Gm7534	GTG	GTGCTG	4: 134,202,629		probably benign	Het
Gm9972	GA	GAA	11: 43,036,770		probably null	Het
Hmmr	G	C	11: 40,723,416	N148K	probably damaging	Het
Homez	C	T	14: 54,857,339	R304K	possibly damaging	Het
Ifngr1	G	A	10: 19,609,473	V407M	probably damaging	Het
Inpp5j	G	T	11: 3,502,527	T241N	possibly damaging	Het
Kif12	GGGGC	GGGGCCTCCACCCGGCGGGC	4: 63,171,423		probably benign	Het
Kremen1	C	T	11: 5,195,105	A424T	probably benign	Het
Mat2b	G	A	11: 40,680,091	T302I	probably benign	Het
Mtmr3	C	T	11: 4,488,441	R671K	probably benign	Het
Nacad	GCAGGGTCAGGGTC	GCAGGGTCAGGGTCAGGGTC	11: 6,599,750		probably benign	Het
Nacad	T	C	11: 6,601,622	N523S	probably benign	Het
Nacad	A	G	11: 6,601,632	C520R	probably benign	Het
Nefh	G	A	11: 4,940,151	P823S	probably benign	Het
Nfrkb	G	C	9: 31,397,083	A230P	probably benign	Het
Nlrp4a	A	G	7: 26,449,637	E223G	probably damaging	Het
Notch3	T	A	17: 32,146,417	Y1107F	probably damaging	Het
Olfr1331	G	T	4: 118,869,303	R174M	probably benign	Het
Olfr309	A	T	7: 86,306,284	Y276*	probably null	Het
Olfr781	A	G	10: 129,333,445	D188G	probably benign	Het
Osm	A	G	11: 4,239,588	D124G	probably benign	Het
Plekhm2	TTCCTCCTCCT	TTCCTCCT	4: 141,631,981		probably benign	Het
Pomgnt1	C	T	4: 116,137,427		probably benign	Het
Spen	A	G	4: 141,474,353	V2321A	probably benign	Het
Sytl1	TCTGC	TC	4: 133,256,994		probably benign	Het
Tcn2	G	C	11: 3,923,487	F286L	possibly damaging	Het
Tg	T	C	15: 66,688,863	S10P	probably benign	Het
Tmprss7	C	T	16: 45,680,733	R235Q	probably benign	Het
Tns3	G	T	11: 8,451,146	L1051M	probably benign	Het
Tns3	T	G	11: 8,479,518	E806A	probably benign	Het
Tns3	G	A	11: 8,549,100		probably benign	Het
Toe1	T	C	4: 116,806,093	I62M	probably benign	Het
Txnrd2	A	G	16: 18,475,565	H436R	probably damaging	Het
Ubr4	C	T	4: 139,451,781	P2001S	probably damaging	Het
Vmn2r23	T	A	6: 123,713,161	M332K	probably benign	Het
Zbtb8a	GG	GGATG	4: 129,360,019		probably benign	Het
Zbtb8a	T	C	4: 129,360,212	H163R	probably benign	Het
Zfyve21	A	G	12: 111,827,633	D206G	probably damaging	Het
Zkscan4	AGAGGAG	AGAG	13: 21,479,200		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
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
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

Predicted Primers

Posted On

2015-02-04