Incidental Mutation 'IGL02084:Mynn'
ID |
283457 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mynn
|
Ensembl Gene |
ENSMUSG00000037730 |
Gene Name |
myoneurin |
Synonyms |
2810011C24Rik, SBBIZ1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.423)
|
Stock # |
IGL02084
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
30656214-30674022 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 30665764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 465
(H465Q)
|
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: H465Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041034 Gene: ENSMUSG00000037730 AA Change: H465Q
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: H465Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141951 Gene: ENSMUSG00000037730 AA Change: H465Q
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 |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
G |
11: 110,021,423 (GRCm39) |
F1096L |
probably benign |
Het |
Abcd2 |
T |
A |
15: 91,062,530 (GRCm39) |
|
probably null |
Het |
Actr10 |
T |
C |
12: 71,001,423 (GRCm39) |
I210T |
probably damaging |
Het |
Apoa5 |
A |
T |
9: 46,181,950 (GRCm39) |
D342V |
probably damaging |
Het |
Bicra |
G |
A |
7: 15,721,663 (GRCm39) |
T618I |
probably benign |
Het |
Birc6 |
C |
A |
17: 74,915,277 (GRCm39) |
Q1642K |
probably benign |
Het |
Cenpn |
A |
G |
8: 117,667,634 (GRCm39) |
Y331C |
probably damaging |
Het |
Clcn7 |
T |
A |
17: 25,376,899 (GRCm39) |
I624N |
probably benign |
Het |
Eddm3b |
A |
T |
14: 51,354,087 (GRCm39) |
H25L |
unknown |
Het |
Fam90a1a |
A |
G |
8: 22,449,313 (GRCm39) |
E19G |
probably benign |
Het |
Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
Fbxo41 |
A |
T |
6: 85,457,747 (GRCm39) |
|
probably null |
Het |
Frem3 |
A |
G |
8: 81,339,072 (GRCm39) |
D455G |
possibly damaging |
Het |
Gart |
T |
C |
16: 91,418,488 (GRCm39) |
Q86R |
probably benign |
Het |
Gm45234 |
T |
C |
6: 124,724,658 (GRCm39) |
|
probably benign |
Het |
Gm5431 |
C |
T |
11: 48,779,912 (GRCm39) |
D337N |
probably benign |
Het |
Gm6882 |
T |
A |
7: 21,161,512 (GRCm39) |
I119F |
probably damaging |
Het |
Kcns3 |
C |
T |
12: 11,142,195 (GRCm39) |
R168Q |
probably damaging |
Het |
Klra17 |
T |
A |
6: 129,808,556 (GRCm39) |
N226Y |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,326,396 (GRCm39) |
N2915D |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,353,167 (GRCm39) |
D1504G |
probably damaging |
Het |
Mgat4d |
C |
T |
8: 84,095,610 (GRCm39) |
S295L |
possibly damaging |
Het |
Mslnl |
T |
C |
17: 25,965,125 (GRCm39) |
V497A |
probably benign |
Het |
Mtor |
T |
C |
4: 148,555,137 (GRCm39) |
S920P |
probably damaging |
Het |
Myo16 |
A |
G |
8: 10,411,088 (GRCm39) |
E182G |
probably damaging |
Het |
Ncln |
T |
C |
10: 81,324,430 (GRCm39) |
I417V |
probably benign |
Het |
Nlrp4f |
A |
T |
13: 65,341,985 (GRCm39) |
C553* |
probably null |
Het |
Or5k14 |
G |
A |
16: 58,693,399 (GRCm39) |
T38I |
probably damaging |
Het |
Or8k37 |
T |
A |
2: 86,469,980 (GRCm39) |
Q24L |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,447,623 (GRCm39) |
I2257V |
probably damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,566,657 (GRCm39) |
S35T |
possibly damaging |
Het |
Qrfprl |
T |
C |
6: 65,358,594 (GRCm39) |
V106A |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,336,499 (GRCm39) |
V3291A |
probably benign |
Het |
Runx2 |
C |
T |
17: 45,035,716 (GRCm39) |
A173T |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,807,648 (GRCm39) |
Y833* |
probably null |
Het |
Setbp1 |
G |
A |
18: 78,900,625 (GRCm39) |
A1014V |
probably damaging |
Het |
Slc25a38 |
A |
G |
9: 119,949,512 (GRCm39) |
|
probably benign |
Het |
Stk4 |
A |
G |
2: 163,928,527 (GRCm39) |
T120A |
probably benign |
Het |
Taf3 |
A |
T |
2: 10,047,330 (GRCm39) |
V106D |
probably benign |
Het |
Uchl5 |
A |
G |
1: 143,677,912 (GRCm39) |
I139V |
possibly damaging |
Het |
Ung |
A |
G |
5: 114,268,637 (GRCm39) |
E25G |
probably benign |
Het |
Wrn |
A |
G |
8: 33,775,207 (GRCm39) |
V619A |
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 |
|
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 |
|
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 |
|
Posted On |
2015-04-16 |