Mutagenetix > Incidental Mutations

Incidental Mutation 'R5153:Mynn'

395499

Institutional Source

Beutler Lab

Gene Symbol

Mynn

Ensembl Gene

ENSMUSG00000037730

Gene Name

myoneurin

Synonyms

SBBIZ1, 2810011C24Rik

MMRRC Submission

042735-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.470) question?

Stock #

R5153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30602065-30619873 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30611589 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 457 (S457P)

Ref Sequence

ENSEMBL: ENSMUSP00000141951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047502] [ENSMUST00000192715] [ENSMUST00000195396] [ENSMUST00000195751]

Predicted Effect

probably benign
Transcript: ENSMUST00000047502
AA Change: S457P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000041034
Gene: ENSMUSG00000037730
AA Change: S457P

Domain	Start	End	E-Value	Type
BTB	24	119	4.44e-22	SMART
low complexity region	174	190	N/A	INTRINSIC
ZnF_C2H2	302	324	1.47e-3	SMART
ZnF_C2H2	330	352	5.14e-3	SMART
ZnF_C2H2	358	380	1.36e-2	SMART
ZnF_C2H2	387	409	1.12e-3	SMART
ZnF_C2H2	415	437	3.63e-3	SMART
ZnF_C2H2	443	465	1.1e-2	SMART
ZnF_C2H2	471	493	2.99e-4	SMART
ZnF_C2H2	499	522	3.58e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192715
AA Change: S457P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000141951
Gene: ENSMUSG00000037730
AA Change: S457P

Domain	Start	End	E-Value	Type
BTB	24	119	4.44e-22	SMART
low complexity region	174	190	N/A	INTRINSIC
ZnF_C2H2	302	324	1.47e-3	SMART
ZnF_C2H2	330	352	5.14e-3	SMART
ZnF_C2H2	358	380	1.36e-2	SMART
ZnF_C2H2	387	409	1.12e-3	SMART
ZnF_C2H2	415	437	3.63e-3	SMART
ZnF_C2H2	443	465	1.1e-2	SMART
ZnF_C2H2	471	493	2.99e-4	SMART
ZnF_C2H2	499	522	3.58e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193736

Predicted Effect

probably benign
Transcript: ENSMUST00000195396

SMART Domains

Protein: ENSMUSP00000141623
Gene: ENSMUSG00000037730

Domain	Start	End	E-Value	Type
Pfam:BTB	14	55	6.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195751

SMART Domains

Protein: ENSMUSP00000141450
Gene: ENSMUSG00000037730

Domain	Start	End	E-Value	Type
Pfam:BTB	14	55	6.4e-9	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the BTB/POZ and zinc finger domain-containing protein family that are involved in the control of gene expression. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 14. [provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,837,247	C257S	unknown	Het
4930596D02Rik	C	A	14: 35,810,255	R121L	probably benign	Het
5330417C22Rik	A	T	3: 108,472,747	Y349N	possibly damaging	Het
8030411F24Rik	A	G	2: 148,783,440	Q98R	probably benign	Het
9430007A20Rik	T	A	4: 144,522,267	M68K	probably benign	Het
Acin1	A	G	14: 54,645,613	V194A	probably benign	Het
Acsm1	T	C	7: 119,640,727	I298T	possibly damaging	Het
Aoc1	A	G	6: 48,908,747	N729D	probably benign	Het
Apobr	C	T	7: 126,587,732	T20I	possibly damaging	Het
Arsb	A	G	13: 93,940,598	E491G	probably benign	Het
AW209491	C	G	13: 14,637,179	Q206E	probably benign	Het
Camsap1	A	T	2: 25,933,618	N1473K	probably damaging	Het
Casp8	A	G	1: 58,844,845	Q457R	probably benign	Het
Ccdc154	G	A	17: 25,168,341	A350T	probably damaging	Het
Cecr2	A	G	6: 120,734,560	E183G	probably benign	Het
Cep295	A	T	9: 15,357,629	S39T	probably benign	Het
Cep350	A	T	1: 155,935,946	I416K	probably damaging	Het
Cidea	C	T	18: 67,367,420	T184M	probably damaging	Het
Cnot10	G	A	9: 114,613,735	A468V	probably damaging	Het
Defb22	A	T	2: 152,485,802	N154K	unknown	Het
Dnah17	A	T	11: 118,082,974	C1915*	probably null	Het
Dnah2	T	C	11: 69,520,933	T288A	possibly damaging	Het
Dopey2	T	A	16: 93,774,003	M1512K	probably damaging	Het
Dsp	T	G	13: 38,182,306	I572S	probably damaging	Het
Eepd1	A	G	9: 25,586,753	H378R	probably benign	Het
Emilin2	A	G	17: 71,273,502	M743T	possibly damaging	Het
Ext1	C	A	15: 53,075,817	W612L	probably damaging	Het
F2rl2	A	G	13: 95,697,112	T17A	probably benign	Het
Fbxl8	T	G	8: 105,267,107	C32G	probably damaging	Het
Fbxw17	A	G	13: 50,419,861	T38A	probably damaging	Het
Flii	A	T	11: 60,716,686	L882Q	possibly damaging	Het
Focad	T	G	4: 88,359,884	S1197A	unknown	Het
Gm6970	A	G	19: 47,170,917	V73A	probably damaging	Het
Heatr5b	G	A	17: 78,795,107	R1281*	probably null	Het
Khdc3	A	G	9: 73,103,438	Q190R	probably benign	Het
Krt9	T	A	11: 100,191,242	D244V	probably damaging	Het
Ldhd	T	C	8: 111,627,092	E463G	probably benign	Het
Lig4	A	T	8: 9,973,003	V259E	possibly damaging	Het
Luc7l3	A	T	11: 94,295,980		probably benign	Het
Man1a2	T	C	3: 100,656,263	E22G	probably damaging	Het
Mmp23	T	G	4: 155,651,340	D258A	probably damaging	Het
Msantd2	C	T	9: 37,523,213	R250*	probably null	Het
Nectin1	C	T	9: 43,803,498	H50Y	probably damaging	Het
Olfr1256	G	A	2: 89,835,234	T237I	possibly damaging	Het
Olfr516	T	C	7: 108,845,699	I104V	probably benign	Het
Olfr709-ps1	C	T	7: 106,926,569	V297M	possibly damaging	Het
Olfr804	A	G	10: 129,705,157	N93S	probably benign	Het
Pfkfb2	G	A	1: 130,701,790	T303M	probably damaging	Het
Pkhd1l1	A	G	15: 44,505,309	D841G	probably benign	Het
Plxna4	A	T	6: 32,224,159		probably null	Het
Podnl1	C	T	8: 84,130,643	H294Y	probably benign	Het
Ppig	T	A	2: 69,749,650	D509E	unknown	Het
Ppp1r16a	T	A	15: 76,694,396	Y433*	probably null	Het
Prdm1	A	C	10: 44,450,225	V134G	possibly damaging	Het
Prx	T	C	7: 27,518,476	S940P	probably damaging	Het
Ptprd	C	T	4: 76,012,102	V731I	probably damaging	Het
Qk	A	G	17: 10,238,891		probably null	Het
Rassf6	T	C	5: 90,606,840	K206R	possibly damaging	Het
Rdh16f2	G	A	10: 127,876,255	E194K	possibly damaging	Het
Rims1	C	A	1: 22,483,247	G457*	probably null	Het
Ripk1	T	G	13: 34,013,296	I123R	probably damaging	Het
Rnf111	A	T	9: 70,476,140	S170R	probably benign	Het
Shc3	A	T	13: 51,461,377	F181L	probably damaging	Het
Siglec1	A	C	2: 131,085,577	V103G	probably damaging	Het
Slc26a11	G	T	11: 119,377,259	A488S	possibly damaging	Het
Smoc2	A	T	17: 14,336,579	T97S	probably damaging	Het
Son	T	C	16: 91,655,022	I219T	possibly damaging	Het
Sptbn1	A	T	11: 30,121,510	I1474N	possibly damaging	Het
Syt16	A	T	12: 74,222,768	D127V	possibly damaging	Het
Tet1	G	T	10: 62,878,578	N479K	possibly damaging	Het
Thsd7a	G	A	6: 12,338,655	A1192V	probably benign	Het
Tmed3	G	A	9: 89,699,772	R213*	probably null	Het
Traj57	A	G	14: 54,158,559		probably benign	Het
Trpv1	G	T	11: 73,238,516	R86S	probably benign	Het
Usp48	T	A	4: 137,616,362	F434L	possibly damaging	Het
Vmn2r59	A	C	7: 42,042,410		probably null	Het
Vmn2r71	T	A	7: 85,619,222	I211N	possibly damaging	Het
Vps13b	T	A	15: 35,422,453	D186E	probably damaging	Het
Vps33a	A	G	5: 123,558,628	S321P	probably damaging	Het
Wdr12	A	T	1: 60,094,511	D19E	probably benign	Het
Zc3h12c	A	G	9: 52,126,647	F278L	probably damaging	Het
Zpld1	T	C	16: 55,246,644	T183A	probably damaging	Het
Zswim2	G	T	2: 83,939,666	T68K	possibly damaging	Het

Other mutations in Mynn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01300:Mynn	APN	3	30613606	missense	probably damaging	0.99
IGL01544:Mynn	APN	3	30607705	nonsense	probably null
IGL02084:Mynn	APN	3	30611615	missense	probably damaging	1.00
IGL02189:Mynn	APN	3	30613544	splice site	probably benign
IGL02261:Mynn	APN	3	30607131	missense	possibly damaging	0.67
IGL02541:Mynn	APN	3	30611603	missense	probably damaging	0.98
IGL02681:Mynn	APN	3	30616642	missense	probably benign	0.36
IGL03167:Mynn	APN	3	30609042	missense	probably damaging	1.00
PIT4494001:Mynn	UTSW	3	30607722	nonsense	probably null
R0049:Mynn	UTSW	3	30607081	makesense	probably null
R0321:Mynn	UTSW	3	30607557	missense	probably benign	0.01
R0420:Mynn	UTSW	3	30607459	missense	probably benign	0.42
R0574:Mynn	UTSW	3	30616739	missense	probably benign	0.01
R0576:Mynn	UTSW	3	30607068	missense	probably damaging	1.00
R1460:Mynn	UTSW	3	30603704	missense	probably damaging	0.99
R1882:Mynn	UTSW	3	30616813	makesense	probably null
R3115:Mynn	UTSW	3	30607810	missense	probably damaging	1.00
R3442:Mynn	UTSW	3	30613563	missense	probably damaging	0.99
R4930:Mynn	UTSW	3	30607042	missense	probably damaging	1.00
R5351:Mynn	UTSW	3	30607542	missense	probably benign	0.01
R7446:Mynn	UTSW	3	30607052	missense	probably benign	0.01
R7468:Mynn	UTSW	3	30603676	missense	probably damaging	1.00
R7543:Mynn	UTSW	3	30607039	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATACGTGACCTCCGGATTGC -3'
(R):5'- GGCTAACTAGGTTTTCTCTAGTCG -3'

Sequencing Primer
(F):5'- ATACGTGACCTCCGGATTGCTTTAC -3'
(R):5'- GGTTTTCTCTAGTCGTAAAAACATGG -3'

Posted On

2016-06-21