Incidental Mutation 'IGL03167:Mynn'
| ID |
411696 |
| 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: 0.411)
|
| Stock # |
IGL03167
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
30656214-30674022 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30663191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 373
(L373P)
|
| 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: L373P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041034
Gene: ENSMUSG00000037730
AA Change: L373P
| 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: L373P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141951
Gene: ENSMUSG00000037730
AA Change: L373P
| 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 |
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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
A |
C |
6: 34,834,594 (GRCm39) |
K921T |
possibly damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,679,894 (GRCm39) |
|
probably benign |
Het |
| Ankrd22 |
A |
T |
19: 34,143,174 (GRCm39) |
M1K |
probably null |
Het |
| Ano5 |
G |
A |
7: 51,235,259 (GRCm39) |
V698I |
probably damaging |
Het |
| Ccnh |
A |
G |
13: 85,345,685 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
A |
T |
4: 47,282,635 (GRCm39) |
I771F |
probably damaging |
Het |
| Dmrt1 |
T |
C |
19: 25,523,257 (GRCm39) |
S203P |
possibly damaging |
Het |
| Exoc5 |
A |
T |
14: 49,288,802 (GRCm39) |
V82E |
probably damaging |
Het |
| Ffar3 |
A |
T |
7: 30,554,780 (GRCm39) |
V180E |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,700,108 (GRCm39) |
S381G |
probably benign |
Het |
| Foxf1 |
C |
A |
8: 121,811,647 (GRCm39) |
Y170* |
probably null |
Het |
| Glis1 |
A |
G |
4: 107,293,102 (GRCm39) |
D75G |
possibly damaging |
Het |
| Gpr151 |
T |
C |
18: 42,711,439 (GRCm39) |
H413R |
probably benign |
Het |
| Gtf3c1 |
T |
C |
7: 125,269,752 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
A |
5: 34,976,330 (GRCm39) |
F711I |
probably damaging |
Het |
| Il1rapl1 |
A |
G |
X: 85,790,867 (GRCm39) |
I691T |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,821,406 (GRCm39) |
Y579C |
probably benign |
Het |
| Lingo3 |
A |
G |
10: 80,671,178 (GRCm39) |
S251P |
probably damaging |
Het |
| Mbl1 |
T |
A |
14: 40,880,543 (GRCm39) |
S144T |
probably benign |
Het |
| Musk |
A |
T |
4: 58,366,821 (GRCm39) |
R462W |
possibly damaging |
Het |
| Myoz2 |
G |
A |
3: 122,800,139 (GRCm39) |
R230* |
probably null |
Het |
| Nup35 |
A |
G |
2: 80,488,660 (GRCm39) |
|
probably benign |
Het |
| Or14a259 |
C |
T |
7: 86,013,128 (GRCm39) |
C139Y |
probably damaging |
Het |
| Or2d4 |
A |
G |
7: 106,543,852 (GRCm39) |
S119P |
probably damaging |
Het |
| Or5ak4 |
C |
T |
2: 85,161,664 (GRCm39) |
D193N |
probably benign |
Het |
| Or5m3 |
T |
A |
2: 85,838,511 (GRCm39) |
Y130* |
probably null |
Het |
| Pira2 |
A |
T |
7: 3,843,919 (GRCm39) |
S618T |
probably damaging |
Het |
| Plch1 |
G |
A |
3: 63,630,165 (GRCm39) |
|
probably benign |
Het |
| Pparg |
T |
G |
6: 115,450,188 (GRCm39) |
F396V |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,767,108 (GRCm39) |
E441G |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,450,485 (GRCm39) |
C161S |
probably benign |
Het |
| Skint5 |
C |
T |
4: 113,751,047 (GRCm39) |
E333K |
unknown |
Het |
| Slc22a8 |
C |
T |
19: 8,587,322 (GRCm39) |
P461S |
probably damaging |
Het |
| Slc38a6 |
C |
T |
12: 73,397,311 (GRCm39) |
Q318* |
probably null |
Het |
| Sycp2 |
T |
C |
2: 178,021,291 (GRCm39) |
K512E |
probably damaging |
Het |
| Tas2r103 |
T |
A |
6: 133,013,623 (GRCm39) |
N148Y |
probably damaging |
Het |
| Tcf7l1 |
A |
G |
6: 72,609,979 (GRCm39) |
M257T |
possibly damaging |
Het |
| Tert |
T |
A |
13: 73,788,119 (GRCm39) |
N792K |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,766,277 (GRCm39) |
V43E |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,467,195 (GRCm39) |
S475P |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,681 (GRCm39) |
V242A |
probably damaging |
Het |
| Ypel3 |
A |
T |
7: 126,379,247 (GRCm39) |
I107F |
probably damaging |
Het |
| Zfp352 |
T |
C |
4: 90,112,939 (GRCm39) |
S360P |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation