Incidental Mutation 'PIT4494001:Mynn'
| ID |
556141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mynn
|
| Ensembl Gene |
ENSMUSG00000037730 |
| Gene Name |
myoneurin |
| Synonyms |
2810011C24Rik, SBBIZ1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.423)
|
| Stock # |
PIT4494001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
30656214-30674022 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 30661871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 318
(R318*)
|
| 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: R318*
|
| SMART Domains |
Protein: ENSMUSP00000041034
Gene: ENSMUSG00000037730
AA Change: R318*
| 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: R318*
|
| SMART Domains |
Protein: ENSMUSP00000141951
Gene: ENSMUSG00000037730
AA Change: R318*
| 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 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 |
- 1x: 93.8%
- 3x: 91.1%
- 10x: 85.6%
- 20x: 73.9%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
T |
C |
4: 123,754,698 (GRCm39) |
I204T |
probably benign |
Het |
| Acnat2 |
T |
C |
4: 49,383,133 (GRCm39) |
E140G |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,292,522 (GRCm39) |
E413G |
probably damaging |
Het |
| Atg9a |
A |
T |
1: 75,164,597 (GRCm39) |
C122* |
probably null |
Het |
| Birc6 |
T |
C |
17: 74,933,975 (GRCm39) |
Y2544H |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,516,263 (GRCm39) |
T1383I |
probably benign |
Het |
| Cd2ap |
C |
T |
17: 43,163,258 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
T |
C |
14: 36,804,813 (GRCm39) |
T466A |
probably benign |
Het |
| Cdhr2 |
G |
T |
13: 54,866,255 (GRCm39) |
|
probably null |
Het |
| Eppk1 |
T |
A |
15: 75,990,272 (GRCm39) |
Q2203L |
probably benign |
Het |
| F10 |
T |
C |
8: 13,103,423 (GRCm39) |
L281P |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,545,316 (GRCm39) |
T825A |
probably damaging |
Het |
| Fbxw27 |
T |
C |
9: 109,601,178 (GRCm39) |
E314G |
probably benign |
Het |
| Foxred1 |
T |
C |
9: 35,120,355 (GRCm39) |
E173G |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,467,587 (GRCm39) |
E203G |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,275,800 (GRCm39) |
R526H |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,402,960 (GRCm39) |
Y842C |
probably damaging |
Het |
| Hyal4 |
T |
C |
6: 24,755,833 (GRCm39) |
V17A |
probably benign |
Het |
| Igkv4-68 |
T |
C |
6: 69,282,091 (GRCm39) |
T27A |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,529,464 (GRCm39) |
N2036Y |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,660,091 (GRCm39) |
Y991C |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,456,741 (GRCm39) |
Y841C |
probably damaging |
Het |
| Medag |
A |
G |
5: 149,350,765 (GRCm39) |
Y194C |
probably damaging |
Het |
| Notch1 |
C |
T |
2: 26,356,485 (GRCm39) |
V1711M |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,766,311 (GRCm39) |
|
probably null |
Het |
| Pex7 |
A |
G |
10: 19,770,469 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,796,775 (GRCm39) |
T2417A |
probably damaging |
Het |
| Pknox2 |
A |
G |
9: 36,865,987 (GRCm39) |
|
probably null |
Het |
| Plekha4 |
T |
C |
7: 45,197,503 (GRCm39) |
S522P |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,092,168 (GRCm39) |
S310R |
probably benign |
Het |
| Rap2a |
A |
G |
14: 120,716,319 (GRCm39) |
T61A |
possibly damaging |
Het |
| Ryr3 |
G |
T |
2: 112,672,221 (GRCm39) |
L1437M |
probably damaging |
Het |
| Slc25a40 |
T |
G |
5: 8,490,737 (GRCm39) |
I95S |
probably damaging |
Het |
| Srbd1 |
C |
T |
17: 86,449,787 (GRCm39) |
|
probably null |
Het |
| Tox4 |
C |
T |
14: 52,529,260 (GRCm39) |
T407I |
possibly damaging |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,712 (GRCm39) |
I254M |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,580,905 (GRCm39) |
A182V |
probably damaging |
Het |
| Zfp60 |
T |
C |
7: 27,448,126 (GRCm39) |
S265P |
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 |
|
IGL03167:Mynn
|
APN |
3 |
30,663,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGAAATCACAGTCACATTGTG -3'
(R):5'- GGCAGCCTTTGTTTGTAAGC -3'
Sequencing Primer
(F):5'- GGAAATCACAGTCACATTGTGCTCTG -3'
(R):5'- ACAATGCGTGCTCACTTGAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation