Incidental Mutation 'R0574:Mynn'
ID |
46566 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mynn
|
Ensembl Gene |
ENSMUSG00000037730 |
Gene Name |
myoneurin |
Synonyms |
2810011C24Rik, SBBIZ1 |
MMRRC Submission |
038764-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.423)
|
Stock # |
R0574 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
30656214-30674022 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30670888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 587
(S587P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141951
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047502]
[ENSMUST00000192715]
[ENSMUST00000195396]
[ENSMUST00000195751]
|
AlphaFold |
Q99MD8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047502
AA Change: S559P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000041034 Gene: ENSMUSG00000037730 AA Change: S559P
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: S587P
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000141951 Gene: ENSMUSG00000037730 AA Change: S587P
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 |
|
Meta Mutation Damage Score |
0.0733 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
Validation Efficiency |
100% (34/34) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700099C18Rik |
T |
C |
17: 95,068,919 (GRCm39) |
|
noncoding transcript |
Het |
Abca14 |
A |
G |
7: 119,823,720 (GRCm39) |
I416V |
probably damaging |
Het |
Actrt3 |
T |
C |
3: 30,653,829 (GRCm39) |
E57G |
probably benign |
Het |
Adamts5 |
A |
G |
16: 85,696,372 (GRCm39) |
S262P |
probably damaging |
Het |
Aldh1a2 |
T |
C |
9: 71,188,990 (GRCm39) |
|
probably null |
Het |
Arhgap29 |
A |
G |
3: 121,801,274 (GRCm39) |
I670V |
probably benign |
Het |
Bptf |
T |
C |
11: 106,967,353 (GRCm39) |
D1009G |
probably damaging |
Het |
Ddr2 |
G |
T |
1: 169,809,532 (GRCm39) |
|
probably benign |
Het |
Ift140 |
T |
A |
17: 25,270,734 (GRCm39) |
|
probably null |
Het |
Itga1 |
A |
C |
13: 115,103,097 (GRCm39) |
S1111R |
probably damaging |
Het |
Klk1b27 |
T |
A |
7: 43,705,525 (GRCm39) |
L199Q |
probably damaging |
Het |
Lhx3 |
T |
C |
2: 26,091,323 (GRCm39) |
S329G |
probably benign |
Het |
Man2b1 |
T |
G |
8: 85,823,405 (GRCm39) |
M913R |
probably benign |
Het |
Mmp15 |
G |
A |
8: 96,092,029 (GRCm39) |
A80T |
possibly damaging |
Het |
Mpo |
A |
T |
11: 87,686,902 (GRCm39) |
Y177F |
probably damaging |
Het |
Nfkbib |
C |
T |
7: 28,461,213 (GRCm39) |
V145I |
probably benign |
Het |
Or1o3 |
G |
T |
17: 37,573,772 (GRCm39) |
S261Y |
probably damaging |
Het |
Or4k15 |
A |
T |
14: 50,364,139 (GRCm39) |
Y35F |
probably damaging |
Het |
Or6k8-ps1 |
T |
C |
1: 173,979,132 (GRCm39) |
F17L |
probably benign |
Het |
Pole2 |
G |
A |
12: 69,258,231 (GRCm39) |
|
probably benign |
Het |
Ppargc1b |
C |
T |
18: 61,435,810 (GRCm39) |
G906D |
probably benign |
Het |
Prl8a2 |
T |
A |
13: 27,532,883 (GRCm39) |
C32S |
probably damaging |
Het |
Rhno1 |
A |
T |
6: 128,335,113 (GRCm39) |
|
probably null |
Het |
Rprd2 |
T |
C |
3: 95,681,669 (GRCm39) |
E408G |
possibly damaging |
Het |
Ryr2 |
T |
A |
13: 11,746,555 (GRCm39) |
H1999L |
probably benign |
Het |
Shprh |
T |
C |
10: 11,038,821 (GRCm39) |
|
probably benign |
Het |
Snx3 |
T |
A |
10: 42,378,383 (GRCm39) |
N19K |
probably benign |
Het |
Stx8 |
C |
T |
11: 67,864,078 (GRCm39) |
T46M |
probably damaging |
Het |
Tbc1d17 |
A |
G |
7: 44,492,547 (GRCm39) |
|
probably benign |
Het |
Ush1c |
A |
G |
7: 45,846,228 (GRCm39) |
S855P |
possibly damaging |
Het |
Usp54 |
A |
G |
14: 20,606,322 (GRCm39) |
V1338A |
probably benign |
Het |
Vmn1r214 |
A |
G |
13: 23,218,663 (GRCm39) |
I52M |
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 |
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 |
|
R3115:Mynn
|
UTSW |
3 |
30,661,959 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CCATGCTGTAAGCGAACAAGACTCC -3'
(R):5'- ACCCCAGGTCAGATTCGACCTAAG -3'
Sequencing Primer
(F):5'- CGTACAGAGAAGTCCCTTGTCAG -3'
(R):5'- AAGCCAGCACTGCCTGATG -3'
|
Posted On |
2013-06-11 |