Incidental Mutation 'R3442:Mynn'
| ID |
267404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mynn
|
| Ensembl Gene |
ENSMUSG00000037730 |
| Gene Name |
myoneurin |
| Synonyms |
2810011C24Rik, SBBIZ1 |
| MMRRC Submission |
040660-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.423)
|
| Stock # |
R3442 (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 30667712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 471
(F471L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047502]
[ENSMUST00000192715]
[ENSMUST00000195396]
[ENSMUST00000195751]
|
| AlphaFold |
Q99MD8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047502
AA Change: F471L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041034
Gene: ENSMUSG00000037730
AA Change: F471L
| 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: F499L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141951
Gene: ENSMUSG00000037730
AA Change: F499L
| 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 |
0.4337 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,246,583 (GRCm39) |
Y26* |
probably null |
Het |
| Adam30 |
T |
C |
3: 98,069,886 (GRCm39) |
I573T |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cav3 |
G |
A |
6: 112,449,402 (GRCm39) |
C140Y |
possibly damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cfap91 |
T |
C |
16: 38,154,168 (GRCm39) |
M126V |
probably benign |
Het |
| Dbt |
T |
A |
3: 116,341,840 (GRCm39) |
D480E |
probably benign |
Het |
| Dmbt1 |
G |
A |
7: 130,707,979 (GRCm39) |
C1407Y |
probably damaging |
Het |
| Frem3 |
C |
T |
8: 81,339,669 (GRCm39) |
P654L |
probably damaging |
Het |
| Glb1l2 |
C |
T |
9: 26,692,038 (GRCm39) |
A74T |
probably damaging |
Het |
| Gpx1 |
C |
G |
9: 108,216,549 (GRCm39) |
T13S |
probably benign |
Het |
| Grik3 |
C |
A |
4: 125,587,763 (GRCm39) |
L628M |
probably damaging |
Het |
| Grik3 |
T |
A |
4: 125,587,764 (GRCm39) |
L628Q |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,483,125 (GRCm39) |
Y610C |
probably damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,169 (GRCm39) |
E123V |
probably null |
Het |
| Htr3b |
T |
C |
9: 48,856,815 (GRCm39) |
D221G |
probably benign |
Het |
| Msmb |
A |
G |
14: 31,872,173 (GRCm39) |
N55D |
probably benign |
Het |
| Mx1 |
T |
A |
16: 97,257,431 (GRCm39) |
I109F |
probably damaging |
Het |
| Or9i2 |
T |
C |
19: 13,816,370 (GRCm39) |
T56A |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,529,033 (GRCm39) |
R1792G |
probably damaging |
Het |
| Sil1 |
A |
T |
18: 35,458,449 (GRCm39) |
L182H |
probably damaging |
Het |
| Sla |
C |
T |
15: 66,655,509 (GRCm39) |
G210D |
probably benign |
Het |
| Slc26a7 |
C |
T |
4: 14,565,511 (GRCm39) |
V191M |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,729,062 (GRCm39) |
M659V |
probably benign |
Het |
| Ubxn6 |
G |
T |
17: 56,376,049 (GRCm39) |
Q371K |
probably benign |
Het |
| Zfat |
A |
T |
15: 67,956,402 (GRCm39) |
D1143E |
probably benign |
Het |
| Zfat |
C |
T |
15: 67,973,430 (GRCm39) |
A1122T |
probably damaging |
Het |
| Zfp950 |
A |
T |
19: 61,107,170 (GRCm39) |
C149* |
probably null |
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 |
|
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 |
|
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'- GAAGAGTTCCTCATTTGTGACATG -3'
(R):5'- GCTCCCTACATCTACTTTTAAACACAG -3'
Sequencing Primer
(F):5'- GCGTAATTTCACCCCAAATTGG -3'
(R):5'- GATCTAGTATCCAGTGTTGAAACGTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation