Incidental Mutation 'IGL02261:Mynn'
ID |
286762 |
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 # |
IGL02261
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
30656214-30674022 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 30661280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 121
(I121F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141951
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047502]
[ENSMUST00000192715]
[ENSMUST00000195396]
[ENSMUST00000195751]
|
AlphaFold |
Q99MD8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047502
AA Change: I121F
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000041034 Gene: ENSMUSG00000037730 AA Change: I121F
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 |
possibly damaging
Transcript: ENSMUST00000192715
AA Change: I121F
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000141951 Gene: ENSMUSG00000037730 AA Change: I121F
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ambn |
G |
A |
5: 88,604,807 (GRCm39) |
V27M |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,578,015 (GRCm39) |
N222D |
probably damaging |
Het |
Bcas3 |
A |
T |
11: 85,422,756 (GRCm39) |
T542S |
probably damaging |
Het |
Btbd1 |
A |
T |
7: 81,455,507 (GRCm39) |
I288N |
probably damaging |
Het |
Ctps1 |
C |
T |
4: 120,399,776 (GRCm39) |
V500I |
possibly damaging |
Het |
Cul5 |
A |
C |
9: 53,546,337 (GRCm39) |
V345G |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,421,776 (GRCm39) |
Y215H |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 49,973,566 (GRCm39) |
M67K |
possibly damaging |
Het |
Egln2 |
C |
T |
7: 26,859,291 (GRCm39) |
E353K |
possibly damaging |
Het |
Fbxw5 |
G |
T |
2: 25,393,746 (GRCm39) |
A325S |
probably benign |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Gaa |
A |
G |
11: 119,172,091 (GRCm39) |
*207W |
probably null |
Het |
Herc2 |
A |
G |
7: 55,856,492 (GRCm39) |
T3947A |
probably damaging |
Het |
Ifit2 |
T |
A |
19: 34,551,624 (GRCm39) |
I388N |
probably damaging |
Het |
Ikzf4 |
T |
C |
10: 128,472,591 (GRCm39) |
T209A |
possibly damaging |
Het |
Il17re |
A |
T |
6: 113,445,472 (GRCm39) |
|
probably benign |
Het |
Insrr |
T |
A |
3: 87,708,029 (GRCm39) |
L157Q |
probably damaging |
Het |
Kcnq2 |
T |
G |
2: 180,723,483 (GRCm39) |
Y631S |
probably damaging |
Het |
Lrrfip1 |
A |
G |
1: 91,039,890 (GRCm39) |
I198V |
probably benign |
Het |
Mir7684 |
A |
T |
15: 82,273,345 (GRCm39) |
|
probably benign |
Het |
Mphosph9 |
C |
T |
5: 124,398,150 (GRCm39) |
E1049K |
probably damaging |
Het |
Mroh1 |
G |
A |
15: 76,313,360 (GRCm39) |
R611Q |
probably benign |
Het |
Ndrg2 |
G |
A |
14: 52,148,566 (GRCm39) |
R32C |
probably damaging |
Het |
Or2ab1 |
T |
C |
11: 58,488,630 (GRCm39) |
I138T |
probably benign |
Het |
Or4p7 |
A |
G |
2: 88,221,725 (GRCm39) |
I45V |
probably benign |
Het |
Ppp1r9b |
A |
G |
11: 94,892,936 (GRCm39) |
E260G |
probably damaging |
Het |
Psd4 |
A |
G |
2: 24,291,756 (GRCm39) |
S652G |
probably damaging |
Het |
Psg25 |
C |
T |
7: 18,255,268 (GRCm39) |
R416H |
probably benign |
Het |
Pygm |
T |
A |
19: 6,438,301 (GRCm39) |
N171K |
probably damaging |
Het |
Rbm46 |
A |
T |
3: 82,771,723 (GRCm39) |
D297E |
possibly damaging |
Het |
Selenov |
T |
A |
7: 27,990,004 (GRCm39) |
T167S |
probably benign |
Het |
Serpina10 |
T |
C |
12: 103,583,208 (GRCm39) |
Y358C |
probably damaging |
Het |
Slc27a3 |
T |
C |
3: 90,295,002 (GRCm39) |
R352G |
probably benign |
Het |
Snx33 |
T |
C |
9: 56,833,862 (GRCm39) |
D69G |
probably benign |
Het |
St8sia2 |
G |
T |
7: 73,616,594 (GRCm39) |
P127H |
probably damaging |
Het |
Thbd |
T |
C |
2: 148,248,401 (GRCm39) |
K489R |
probably benign |
Het |
Ttn |
A |
T |
2: 76,767,049 (GRCm39) |
C3039S |
probably damaging |
Het |
Vmn1r167 |
T |
C |
7: 23,204,261 (GRCm39) |
M252V |
probably benign |
Het |
Xdh |
A |
G |
17: 74,220,960 (GRCm39) |
S590P |
possibly damaging |
Het |
Zfp827 |
G |
A |
8: 79,906,708 (GRCm39) |
V907I |
probably damaging |
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 |
|
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 |