Incidental Mutation 'R5097:Myrfl'
| ID |
388097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myrfl
|
| Ensembl Gene |
ENSMUSG00000034057 |
| Gene Name |
myelin regulatory factor-like |
| Synonyms |
Gm239, LOC237558 |
| MMRRC Submission |
042686-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5097 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
116612450-116732784 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116653609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 486
(I486T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048229]
|
| AlphaFold |
Q3UN70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048229
AA Change: I486T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037477
Gene: ENSMUSG00000034057
AA Change: I486T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NDT80_PhoG
|
252 |
399 |
3.4e-29 |
PFAM |
|
Pfam:Peptidase_S74
|
446 |
505 |
1.6e-18 |
PFAM |
|
Pfam:MRF_C1
|
525 |
560 |
1.8e-24 |
PFAM |
|
low complexity region
|
562 |
601 |
N/A |
INTRINSIC |
|
transmembrane domain
|
625 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
663 |
691 |
N/A |
INTRINSIC |
|
Pfam:MRF_C2
|
765 |
903 |
4e-53 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
A |
5: 89,840,909 (GRCm39) |
V805F |
probably damaging |
Het |
| Adgrb3 |
G |
A |
1: 25,865,165 (GRCm39) |
T226M |
probably damaging |
Het |
| Ak5 |
A |
G |
3: 152,187,270 (GRCm39) |
S406P |
probably damaging |
Het |
| Akt3 |
C |
G |
1: 177,076,254 (GRCm39) |
V12L |
probably benign |
Het |
| Arhgef40 |
A |
C |
14: 52,227,146 (GRCm39) |
S397R |
probably damaging |
Het |
| Atp5f1c |
A |
G |
2: 10,068,323 (GRCm39) |
V144A |
probably benign |
Het |
| Ccser1 |
A |
G |
6: 61,289,144 (GRCm39) |
S436G |
probably benign |
Het |
| Clgn |
G |
T |
8: 84,137,152 (GRCm39) |
V290F |
possibly damaging |
Het |
| Dis3l |
T |
A |
9: 64,226,498 (GRCm39) |
D261V |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,981,435 (GRCm39) |
Y2577F |
probably damaging |
Het |
| Evi5l |
A |
G |
8: 4,243,317 (GRCm39) |
E371G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,201,530 (GRCm39) |
S515P |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,822,329 (GRCm39) |
I6021V |
probably benign |
Het |
| Ftdc1 |
A |
C |
16: 58,434,227 (GRCm39) |
N163K |
probably benign |
Het |
| Gstm5 |
A |
T |
3: 107,803,258 (GRCm39) |
|
probably benign |
Het |
| H2-Oa |
G |
A |
17: 34,312,809 (GRCm39) |
D29N |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Ireb2 |
A |
G |
9: 54,802,668 (GRCm39) |
I434M |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Micall1 |
A |
G |
15: 79,014,078 (GRCm39) |
T658A |
probably benign |
Het |
| Mitf |
C |
T |
6: 97,973,423 (GRCm39) |
A252V |
possibly damaging |
Het |
| Mpzl1 |
A |
G |
1: 165,433,285 (GRCm39) |
I122T |
probably damaging |
Het |
| Mtus2 |
G |
A |
5: 148,232,392 (GRCm39) |
V146I |
probably damaging |
Het |
| Myh11 |
C |
T |
16: 14,023,770 (GRCm39) |
|
probably null |
Het |
| N4bp2 |
T |
C |
5: 65,974,561 (GRCm39) |
V1477A |
probably damaging |
Het |
| Ndc1 |
T |
A |
4: 107,231,358 (GRCm39) |
S100T |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,857,851 (GRCm38) |
N433K |
probably benign |
Het |
| Noc4l |
C |
T |
5: 110,799,212 (GRCm39) |
S190N |
probably benign |
Het |
| Nprl2 |
A |
G |
9: 107,420,731 (GRCm39) |
E122G |
probably damaging |
Het |
| Or13a19 |
A |
G |
7: 139,903,008 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or1e16 |
G |
C |
11: 73,286,119 (GRCm39) |
S243C |
probably damaging |
Het |
| Or6n2 |
C |
T |
1: 173,897,095 (GRCm39) |
T77I |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,896,594 (GRCm39) |
I324V |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Peg3 |
C |
T |
7: 6,713,026 (GRCm39) |
R732H |
probably damaging |
Het |
| Rfc4 |
A |
G |
16: 22,933,046 (GRCm39) |
I297T |
possibly damaging |
Het |
| Rpl3l |
T |
A |
17: 24,952,435 (GRCm39) |
D218E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sesn2 |
C |
T |
4: 132,224,209 (GRCm39) |
V400I |
probably benign |
Het |
| Syt11 |
C |
T |
3: 88,655,231 (GRCm39) |
V51I |
probably benign |
Het |
| Tas2r115 |
A |
C |
6: 132,714,216 (GRCm39) |
L245R |
probably damaging |
Het |
| Tmem115 |
G |
A |
9: 107,412,059 (GRCm39) |
V128I |
probably benign |
Het |
| Trim47 |
A |
G |
11: 115,997,260 (GRCm39) |
V499A |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,638,256 (GRCm39) |
|
probably null |
Het |
| Zfp143 |
A |
G |
7: 109,687,998 (GRCm39) |
D479G |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,839,878 (GRCm39) |
T91A |
possibly damaging |
Het |
|
| Other mutations in Myrfl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Myrfl
|
APN |
10 |
116,632,011 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL00824:Myrfl
|
APN |
10 |
116,685,264 (GRCm39) |
splice site |
probably benign |
|
|
IGL01074:Myrfl
|
APN |
10 |
116,615,490 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01394:Myrfl
|
APN |
10 |
116,658,592 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02283:Myrfl
|
APN |
10 |
116,613,265 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02869:Myrfl
|
APN |
10 |
116,664,909 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02878:Myrfl
|
APN |
10 |
116,613,310 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03112:Myrfl
|
APN |
10 |
116,639,311 (GRCm39) |
missense |
probably benign |
0.03 |
|
F5770:Myrfl
|
UTSW |
10 |
116,697,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0138:Myrfl
|
UTSW |
10 |
116,685,138 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0402:Myrfl
|
UTSW |
10 |
116,664,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0554:Myrfl
|
UTSW |
10 |
116,664,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Myrfl
|
UTSW |
10 |
116,612,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0790:Myrfl
|
UTSW |
10 |
116,653,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0831:Myrfl
|
UTSW |
10 |
116,619,114 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0931:Myrfl
|
UTSW |
10 |
116,675,354 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0945:Myrfl
|
UTSW |
10 |
116,639,299 (GRCm39) |
splice site |
probably benign |
|
|
R1078:Myrfl
|
UTSW |
10 |
116,612,637 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1187:Myrfl
|
UTSW |
10 |
116,667,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1329:Myrfl
|
UTSW |
10 |
116,613,247 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1432:Myrfl
|
UTSW |
10 |
116,613,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Myrfl
|
UTSW |
10 |
116,634,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Myrfl
|
UTSW |
10 |
116,668,852 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1952:Myrfl
|
UTSW |
10 |
116,658,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2138:Myrfl
|
UTSW |
10 |
116,631,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2317:Myrfl
|
UTSW |
10 |
116,675,289 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2930:Myrfl
|
UTSW |
10 |
116,653,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3405:Myrfl
|
UTSW |
10 |
116,658,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4118:Myrfl
|
UTSW |
10 |
116,664,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:Myrfl
|
UTSW |
10 |
116,613,247 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5039:Myrfl
|
UTSW |
10 |
116,658,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5138:Myrfl
|
UTSW |
10 |
116,631,963 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5211:Myrfl
|
UTSW |
10 |
116,634,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5249:Myrfl
|
UTSW |
10 |
116,619,138 (GRCm39) |
missense |
probably benign |
|
|
R5573:Myrfl
|
UTSW |
10 |
116,658,661 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6033:Myrfl
|
UTSW |
10 |
116,685,006 (GRCm39) |
missense |
probably benign |
|
|
R6033:Myrfl
|
UTSW |
10 |
116,685,006 (GRCm39) |
missense |
probably benign |
|
|
R6091:Myrfl
|
UTSW |
10 |
116,685,111 (GRCm39) |
missense |
probably benign |
|
|
R6315:Myrfl
|
UTSW |
10 |
116,658,724 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6812:Myrfl
|
UTSW |
10 |
116,668,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6867:Myrfl
|
UTSW |
10 |
116,684,187 (GRCm39) |
nonsense |
probably null |
|
|
R7019:Myrfl
|
UTSW |
10 |
116,617,852 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7059:Myrfl
|
UTSW |
10 |
116,685,111 (GRCm39) |
missense |
probably benign |
|
|
R7181:Myrfl
|
UTSW |
10 |
116,697,448 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7471:Myrfl
|
UTSW |
10 |
116,697,417 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7574:Myrfl
|
UTSW |
10 |
116,667,430 (GRCm39) |
nonsense |
probably null |
|
|
R7584:Myrfl
|
UTSW |
10 |
116,664,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7667:Myrfl
|
UTSW |
10 |
116,675,258 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7801:Myrfl
|
UTSW |
10 |
116,684,240 (GRCm39) |
missense |
probably benign |
|
|
R8728:Myrfl
|
UTSW |
10 |
116,634,545 (GRCm39) |
nonsense |
probably null |
|
|
R8769:Myrfl
|
UTSW |
10 |
116,612,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8797:Myrfl
|
UTSW |
10 |
116,613,325 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8986:Myrfl
|
UTSW |
10 |
116,658,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9167:Myrfl
|
UTSW |
10 |
116,667,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9366:Myrfl
|
UTSW |
10 |
116,670,358 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
V7582:Myrfl
|
UTSW |
10 |
116,697,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTAACCCACACATTCTCTAGC -3'
(R):5'- AGTGGCTTTGACTTCCCTGG -3'
Sequencing Primer
(F):5'- CACACATTCTCTAGCCTCCC -3'
(R):5'- TTGACTTCCCTGGGGAGAAAATTAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation