Incidental Mutation 'R7059:Myrfl'
| ID |
548133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myrfl
|
| Ensembl Gene |
ENSMUSG00000034057 |
| Gene Name |
myelin regulatory factor-like |
| Synonyms |
Gm239, LOC237558 |
| MMRRC Submission |
045156-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7059 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
116612450-116732784 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116685111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 90
(T90A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048229]
|
| AlphaFold |
Q3UN70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048229
AA Change: T90A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037477
Gene: ENSMUSG00000034057
AA Change: T90A
| 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 |
|
| Meta Mutation Damage Score |
0.0715 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
T |
C |
2: 32,464,509 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
A |
G |
7: 120,020,971 (GRCm39) |
T5A |
probably benign |
Het |
| Abraxas1 |
T |
C |
5: 100,954,103 (GRCm39) |
D349G |
probably benign |
Het |
| Adcyap1r1 |
T |
A |
6: 55,468,295 (GRCm39) |
L405Q |
probably damaging |
Het |
| Aqp5 |
A |
T |
15: 99,492,127 (GRCm39) |
T125S |
probably benign |
Het |
| Asah1 |
A |
T |
8: 41,800,106 (GRCm39) |
N169K |
probably damaging |
Het |
| Atl3 |
A |
G |
19: 7,511,333 (GRCm39) |
N515D |
probably benign |
Het |
| Atl3 |
A |
C |
19: 7,511,334 (GRCm39) |
N520T |
probably benign |
Het |
| Atp6v1c2 |
C |
A |
12: 17,339,005 (GRCm39) |
E249* |
probably null |
Het |
| Bcl2a1b |
T |
A |
9: 89,081,813 (GRCm39) |
I134K |
probably damaging |
Het |
| Brd10 |
T |
A |
19: 29,696,945 (GRCm39) |
E849D |
probably benign |
Het |
| Btbd10 |
C |
T |
7: 112,929,129 (GRCm39) |
R159H |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,806,866 (GRCm39) |
F7L |
probably damaging |
Het |
| Colq |
C |
A |
14: 31,247,991 (GRCm39) |
C409F |
probably damaging |
Het |
| Cpox |
T |
A |
16: 58,491,290 (GRCm39) |
V167E |
probably damaging |
Het |
| Cul3 |
T |
C |
1: 80,254,141 (GRCm39) |
Y545C |
probably benign |
Het |
| Dqx1 |
C |
T |
6: 83,041,790 (GRCm39) |
A544V |
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,801,305 (GRCm39) |
I73T |
probably benign |
Het |
| Epha3 |
T |
A |
16: 63,388,818 (GRCm39) |
Y810F |
probably damaging |
Het |
| Esp36 |
A |
T |
17: 38,727,942 (GRCm39) |
I113N |
unknown |
Het |
| Fbxw17 |
T |
A |
13: 50,586,584 (GRCm39) |
W429R |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,164,647 (GRCm39) |
I293N |
possibly damaging |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Gm8126 |
T |
A |
14: 43,118,975 (GRCm39) |
L148H |
probably benign |
Het |
| Gpr39 |
C |
A |
1: 125,605,696 (GRCm39) |
S208Y |
probably damaging |
Het |
| Heatr5a |
T |
C |
12: 51,935,017 (GRCm39) |
E1662G |
probably damaging |
Het |
| Hgfac |
T |
A |
5: 35,201,773 (GRCm39) |
L302Q |
possibly damaging |
Het |
| Itih1 |
G |
A |
14: 30,653,266 (GRCm39) |
H721Y |
possibly damaging |
Het |
| Kat8 |
A |
G |
7: 127,524,075 (GRCm39) |
I372V |
probably benign |
Het |
| Kcnk1 |
T |
A |
8: 126,756,466 (GRCm39) |
Y329* |
probably null |
Het |
| Kcns2 |
A |
T |
15: 34,838,981 (GRCm39) |
I115F |
probably damaging |
Het |
| Kif1a |
C |
T |
1: 92,974,551 (GRCm39) |
|
probably benign |
Het |
| Lcn2 |
T |
A |
2: 32,277,608 (GRCm39) |
D127V |
possibly damaging |
Het |
| Lrfn1 |
T |
C |
7: 28,166,355 (GRCm39) |
V583A |
possibly damaging |
Het |
| Map3k1 |
T |
C |
13: 111,909,312 (GRCm39) |
I55V |
probably benign |
Het |
| Mapk9 |
T |
C |
11: 49,757,874 (GRCm39) |
|
probably null |
Het |
| Mrpl18 |
A |
G |
17: 13,132,668 (GRCm39) |
S154P |
possibly damaging |
Het |
| Mst1 |
C |
A |
9: 107,961,263 (GRCm39) |
H524Q |
probably benign |
Het |
| Mtpap |
T |
C |
18: 4,396,202 (GRCm39) |
L498P |
probably damaging |
Het |
| Myl3 |
C |
T |
9: 110,571,105 (GRCm39) |
|
probably benign |
Het |
| Mzf1 |
G |
T |
7: 12,786,985 (GRCm39) |
S28R |
probably damaging |
Het |
| Olfm1 |
T |
C |
2: 28,112,628 (GRCm39) |
S205P |
probably damaging |
Het |
| Or52e8 |
A |
T |
7: 104,625,224 (GRCm39) |
|
probably null |
Het |
| Prrc2a |
G |
A |
17: 35,376,364 (GRCm39) |
P809S |
probably damaging |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Rbm48 |
A |
T |
5: 3,640,625 (GRCm39) |
C251* |
probably null |
Het |
| Rxfp1 |
A |
T |
3: 79,559,576 (GRCm39) |
V415E |
probably damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,183,257 (GRCm39) |
L748Q |
probably damaging |
Het |
| Slc19a3 |
T |
A |
1: 83,000,090 (GRCm39) |
Y309F |
probably damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,114,498 (GRCm39) |
D192G |
probably damaging |
Het |
| Slc38a4 |
G |
T |
15: 96,906,895 (GRCm39) |
S281* |
probably null |
Het |
| Syne1 |
A |
T |
10: 5,296,859 (GRCm39) |
S1201T |
probably damaging |
Het |
| Tex15 |
C |
A |
8: 34,064,758 (GRCm39) |
T1396K |
possibly damaging |
Het |
| Zswim8 |
G |
T |
14: 20,764,641 (GRCm39) |
|
probably null |
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 |
|
R5097:Myrfl
|
UTSW |
10 |
116,653,609 (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 |
|
|
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'- GTGGATGCTGAAGTGATTCCAAAC -3'
(R):5'- CTCCACAGGTCAAAGGTGAG -3'
Sequencing Primer
(F):5'- ATGCTTTACCCAGGAACGTG -3'
(R):5'- GTGAGTGAGTCCATCCACATAGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation