Incidental Mutation 'IGL01544:Mynn'
| ID |
90257 |
| 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 # |
IGL01544
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
30656214-30674022 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 30661854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 312
(S312*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141951
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047502]
[ENSMUST00000192715]
[ENSMUST00000195396]
[ENSMUST00000195751]
|
| AlphaFold |
Q99MD8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047502
AA Change: S312*
|
| SMART Domains |
Protein: ENSMUSP00000041034
Gene: ENSMUSG00000037730
AA Change: S312*
| 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 null
Transcript: ENSMUST00000192715
AA Change: S312*
|
| SMART Domains |
Protein: ENSMUSP00000141951
Gene: ENSMUSG00000037730
AA Change: S312*
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Bbx |
C |
A |
16: 50,095,140 (GRCm39) |
E59* |
probably null |
Het |
| Cep120 |
C |
T |
18: 53,819,033 (GRCm39) |
R886H |
probably benign |
Het |
| Cep350 |
C |
A |
1: 155,828,933 (GRCm39) |
V324L |
probably damaging |
Het |
| Cry1 |
T |
A |
10: 84,982,360 (GRCm39) |
K329* |
probably null |
Het |
| Dhtkd1 |
T |
C |
2: 5,918,342 (GRCm39) |
N627S |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,962,270 (GRCm39) |
T437S |
probably benign |
Het |
| Elovl1 |
G |
A |
4: 118,288,107 (GRCm39) |
|
probably null |
Het |
| Heca |
A |
G |
10: 17,791,715 (GRCm39) |
Y114H |
probably damaging |
Het |
| Hrh4 |
A |
G |
18: 13,148,950 (GRCm39) |
N104S |
probably benign |
Het |
| Ift80 |
T |
A |
3: 68,898,115 (GRCm39) |
K73N |
probably benign |
Het |
| Ina |
T |
C |
19: 47,003,948 (GRCm39) |
V252A |
possibly damaging |
Het |
| Klhl36 |
A |
G |
8: 120,596,755 (GRCm39) |
E152G |
possibly damaging |
Het |
| Lamp5 |
T |
A |
2: 135,910,990 (GRCm39) |
L241Q |
probably damaging |
Het |
| Lrp4 |
G |
A |
2: 91,307,896 (GRCm39) |
R447H |
probably damaging |
Het |
| Mmp24 |
G |
A |
2: 155,641,807 (GRCm39) |
G212R |
probably damaging |
Het |
| Mpp3 |
A |
G |
11: 101,909,485 (GRCm39) |
V191A |
possibly damaging |
Het |
| Mtmr4 |
A |
G |
11: 87,488,437 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
A |
2: 52,182,917 (GRCm39) |
I1010F |
possibly damaging |
Het |
| Nes |
T |
C |
3: 87,885,271 (GRCm39) |
S1177P |
possibly damaging |
Het |
| Noct |
T |
C |
3: 51,155,469 (GRCm39) |
V79A |
probably damaging |
Het |
| Rad1 |
A |
G |
15: 10,490,465 (GRCm39) |
D114G |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,687,233 (GRCm39) |
|
probably null |
Het |
| Sqor |
G |
A |
2: 122,634,266 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
T |
6: 48,467,953 (GRCm39) |
W4309L |
probably damaging |
Het |
| Thoc7 |
A |
C |
14: 13,953,435 (GRCm38) |
Y72D |
probably damaging |
Het |
| Thra |
A |
G |
11: 98,647,754 (GRCm39) |
I43V |
possibly damaging |
Het |
| Timm44 |
G |
T |
8: 4,325,888 (GRCm39) |
|
probably benign |
Het |
| Trmo |
C |
T |
4: 46,386,169 (GRCm39) |
G119R |
probably damaging |
Het |
| Trpc4 |
T |
C |
3: 54,209,567 (GRCm39) |
M644T |
probably damaging |
Het |
| Wdr72 |
C |
T |
9: 74,056,007 (GRCm39) |
L300F |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,814,554 (GRCm39) |
T54A |
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 |
|
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 |
|
|
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 |
2013-12-03 |
Incidental Mutation