Mutagenetix > Incidental Mutation

Incidental Mutation 'R3115:Mynn'

263964

Institutional Source

Beutler Lab

Gene Symbol

Mynn

Ensembl Gene

ENSMUSG00000037730

Gene Name

myoneurin

Synonyms

2810011C24Rik, SBBIZ1

MMRRC Submission

040588-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.423) question?

Stock #

R3115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30656214-30674022 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30661959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 347 (T347M)

Ref Sequence

ENSEMBL: ENSMUSP00000141951 (fasta)

Gene Model

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

AlphaFold

Q99MD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000047502
AA Change: T347M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041034
Gene: ENSMUSG00000037730
AA Change: T347M

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 damaging
Transcript: ENSMUST00000192715
AA Change: T347M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141951
Gene: ENSMUSG00000037730
AA Change: T347M

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: ENSMUST00000194587

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

Meta Mutation Damage Score

0.2424

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

96% (47/49)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,266,653 (GRCm39)		probably null	Het
Abcc9	T	C	6: 142,634,755 (GRCm39)	T170A	probably benign	Het
Agbl2	T	C	2: 90,636,245 (GRCm39)	S594P	possibly damaging	Het
Aoc1l3	A	G	6: 48,964,331 (GRCm39)	Y113C	probably damaging	Het
Atf7	C	T	15: 102,442,858 (GRCm39)	S417N	probably benign	Het
Cacng7	T	C	7: 3,387,450 (GRCm39)	V111A	probably benign	Het
Chrm4	A	G	2: 91,757,705 (GRCm39)	T38A	probably benign	Het
Cnot1	T	C	8: 96,470,906 (GRCm39)	E1314G	possibly damaging	Het
Dcx	A	G	X: 142,706,105 (GRCm39)	Y229H	probably damaging	Het
Espl1	T	A	15: 102,231,639 (GRCm39)	F1945Y	possibly damaging	Het
Glul	T	C	1: 153,783,038 (GRCm39)	F204L	possibly damaging	Het
Grm2	A	G	9: 106,524,822 (GRCm39)	V631A	probably damaging	Het
Ifi205	T	A	1: 173,855,901 (GRCm39)	Y43F	possibly damaging	Het
Irs3	A	G	5: 137,642,118 (GRCm39)	L440P	probably benign	Het
Itpr1	A	G	6: 108,383,070 (GRCm39)	D1466G	possibly damaging	Het
Jarid2	T	C	13: 45,049,942 (GRCm39)	S257P	probably damaging	Het
Knl1	C	A	2: 118,900,872 (GRCm39)	L858M	possibly damaging	Het
Krt24	T	A	11: 99,173,262 (GRCm39)	T298S	possibly damaging	Het
Lrriq1	C	T	10: 103,006,294 (GRCm39)	R1277Q	probably benign	Het
Mgp	A	C	6: 136,849,683 (GRCm39)	Y92D	probably damaging	Het
Micu3	A	G	8: 40,835,208 (GRCm39)	H521R	probably benign	Het
Mier3	T	A	13: 111,843,182 (GRCm39)	I178N	probably damaging	Het
Moxd1	G	T	10: 24,177,429 (GRCm39)	E582*	probably null	Het
Mprip	T	A	11: 59,656,229 (GRCm39)		probably null	Het
Mybph	A	G	1: 134,122,476 (GRCm39)	I174V	probably benign	Het
Nhsl1	A	T	10: 18,400,916 (GRCm39)	Q714L	probably damaging	Het
Nr1d2	A	T	14: 18,215,504 (GRCm38)		probably null	Het
Or10g3	T	C	14: 52,610,397 (GRCm39)	T38A	probably damaging	Het
Or2a5	T	C	6: 42,873,784 (GRCm39)	V133A	probably benign	Het
Or52h9	C	A	7: 104,202,295 (GRCm39)	H56Q	probably benign	Het
Or5p61	T	C	7: 107,759,029 (GRCm39)	E17G	probably benign	Het
Pcdha4	T	C	18: 37,086,603 (GRCm39)	V262A	probably benign	Het
Pde4d	T	A	13: 110,084,792 (GRCm39)	M519K	probably damaging	Het
Phactr2	C	A	10: 13,137,645 (GRCm39)	E166*	probably null	Het
Prdx4	C	T	X: 154,113,407 (GRCm39)	R167Q	probably damaging	Het
Prkdc	C	T	16: 15,482,222 (GRCm39)	L422F	probably benign	Het
Prph	T	A	15: 98,953,337 (GRCm39)	F84I	probably damaging	Het
Rnmt	A	G	18: 68,447,079 (GRCm39)	E321G	probably benign	Het
Serpinb13	A	T	1: 106,910,568 (GRCm39)	E64V	probably null	Het
Slc12a4	A	T	8: 106,686,091 (GRCm39)	S81T	probably damaging	Het
Slc47a1	A	G	11: 61,258,506 (GRCm39)	L179P	possibly damaging	Het
Sp140l2	C	G	1: 85,235,106 (GRCm39)		probably benign	Het
Spata31e5	A	C	1: 28,815,410 (GRCm39)	V874G	possibly damaging	Het
Sycp2l	C	A	13: 41,302,274 (GRCm39)	T456K	probably benign	Het
Tenm2	A	G	11: 35,914,193 (GRCm39)	L2447P	probably damaging	Het
Tll1	A	G	8: 64,506,900 (GRCm39)	C614R	probably damaging	Het
Usp5	T	C	6: 124,792,560 (GRCm39)	Y826C	probably damaging	Het
Vmn2r71	A	C	7: 85,272,866 (GRCm39)	D560A	probably damaging	Het
Wdr91	A	G	6: 34,882,522 (GRCm39)	L209P	probably damaging	Het
Zfp511	T	A	7: 139,616,504 (GRCm39)	D46E	probably benign	Het
Zfp81	C	T	17: 33,553,537 (GRCm39)	A426T	possibly damaging	Het
Zscan22	T	C	7: 12,641,217 (GRCm39)	I328T	probably benign	Het

Other mutations in Mynn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01300:Mynn	APN	3	30,667,755 (GRCm39)	missense	probably damaging	0.99
IGL01544:Mynn	APN	3	30,661,854 (GRCm39)	nonsense	probably null
IGL02084:Mynn	APN	3	30,665,764 (GRCm39)	missense	probably damaging	1.00
IGL02189:Mynn	APN	3	30,667,693 (GRCm39)	splice site	probably benign
IGL02261:Mynn	APN	3	30,661,280 (GRCm39)	missense	possibly damaging	0.67
IGL02541:Mynn	APN	3	30,665,752 (GRCm39)	missense	probably damaging	0.98
IGL02681:Mynn	APN	3	30,670,791 (GRCm39)	missense	probably benign	0.36
IGL03167:Mynn	APN	3	30,663,191 (GRCm39)	missense	probably damaging	1.00
PIT4494001:Mynn	UTSW	3	30,661,871 (GRCm39)	nonsense	probably null
R0049:Mynn	UTSW	3	30,661,230 (GRCm39)	makesense	probably null
R0321:Mynn	UTSW	3	30,661,706 (GRCm39)	missense	probably benign	0.01
R0420:Mynn	UTSW	3	30,661,608 (GRCm39)	missense	probably benign	0.42
R0574:Mynn	UTSW	3	30,670,888 (GRCm39)	missense	probably benign	0.01
R0576:Mynn	UTSW	3	30,661,217 (GRCm39)	missense	probably damaging	1.00
R1460:Mynn	UTSW	3	30,657,853 (GRCm39)	missense	probably damaging	0.99
R1882:Mynn	UTSW	3	30,670,962 (GRCm39)	makesense	probably null
R3442:Mynn	UTSW	3	30,667,712 (GRCm39)	missense	probably damaging	0.99
R4930:Mynn	UTSW	3	30,661,191 (GRCm39)	missense	probably damaging	1.00
R5153:Mynn	UTSW	3	30,665,738 (GRCm39)	missense	probably benign	0.00
R5351:Mynn	UTSW	3	30,661,691 (GRCm39)	missense	probably benign	0.01
R7446:Mynn	UTSW	3	30,661,201 (GRCm39)	missense	probably benign	0.01
R7468:Mynn	UTSW	3	30,657,825 (GRCm39)	missense	probably damaging	1.00
R7543:Mynn	UTSW	3	30,661,188 (GRCm39)	nonsense	probably null
R8105:Mynn	UTSW	3	30,665,628 (GRCm39)	missense	possibly damaging	0.92
R8423:Mynn	UTSW	3	30,657,933 (GRCm39)	missense	probably benign	0.05
R8465:Mynn	UTSW	3	30,670,790 (GRCm39)	missense	probably damaging	1.00
R8512:Mynn	UTSW	3	30,670,798 (GRCm39)	missense	probably damaging	0.99
R8519:Mynn	UTSW	3	30,661,290 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGAGCTGGATGCAAGGTTTTC -3'
(R):5'- GGTTAAAAGAATATGGCAGCCTTTG -3'

Sequencing Primer
(F):5'- ATGCAAGGTTTTCCAAGGCC -3'
(R):5'- CAGCCTTTGTTTGTAAGCAATG -3'

Posted On

2015-02-05