Incidental Mutation 'R1078:Myrfl'
| ID |
85739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myrfl
|
| Ensembl Gene |
ENSMUSG00000034057 |
| Gene Name |
myelin regulatory factor-like |
| Synonyms |
Gm239, LOC237558 |
| MMRRC Submission |
039164-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1078 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
116612450-116732784 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116612637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 904
(N904S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048229]
|
| AlphaFold |
Q3UN70 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048229
AA Change: N904S
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000037477
Gene: ENSMUSG00000034057
AA Change: N904S
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.4%
- 20x: 94.4%
|
| Validation Efficiency |
96% (53/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
T |
C |
5: 66,145,698 (GRCm39) |
T138A |
unknown |
Het |
| Abi3bp |
T |
C |
16: 56,474,444 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
A |
T |
7: 80,728,348 (GRCm39) |
M493L |
probably benign |
Het |
| Bace2 |
C |
T |
16: 97,158,060 (GRCm39) |
A20V |
unknown |
Het |
| Bms1 |
T |
C |
6: 118,382,182 (GRCm39) |
D452G |
probably benign |
Het |
| Ccdc187 |
T |
C |
2: 26,184,389 (GRCm39) |
T3A |
probably damaging |
Het |
| Ctu2 |
T |
C |
8: 123,208,238 (GRCm39) |
V95A |
possibly damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,534,966 (GRCm39) |
K60E |
probably benign |
Het |
| Cyp4f13 |
T |
C |
17: 33,144,542 (GRCm39) |
H318R |
probably damaging |
Het |
| Dlgap5 |
G |
A |
14: 47,637,023 (GRCm39) |
T485M |
probably damaging |
Het |
| Dsp |
C |
T |
13: 38,367,082 (GRCm39) |
|
probably benign |
Het |
| Ell2 |
T |
C |
13: 75,894,538 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
A |
T |
7: 18,913,687 (GRCm39) |
Y168F |
probably benign |
Het |
| Entrep1 |
T |
A |
19: 23,950,939 (GRCm39) |
R547S |
probably benign |
Het |
| Ep400 |
C |
T |
5: 110,883,388 (GRCm39) |
|
probably benign |
Het |
| Ercc4 |
C |
A |
16: 12,948,061 (GRCm39) |
A336D |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,037,235 (GRCm39) |
L3629S |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,664,833 (GRCm39) |
R925H |
probably damaging |
Het |
| Gfi1b |
A |
T |
2: 28,503,877 (GRCm39) |
W108R |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,746,508 (GRCm39) |
P108L |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,026,696 (GRCm39) |
F140I |
probably damaging |
Het |
| Hyal2 |
T |
A |
9: 107,449,445 (GRCm39) |
H400Q |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,902,585 (GRCm39) |
Y371H |
probably damaging |
Het |
| Il22b |
T |
G |
10: 118,126,056 (GRCm39) |
*180C |
probably null |
Het |
| Kdm2b |
T |
C |
5: 123,099,604 (GRCm39) |
T118A |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,821,557 (GRCm39) |
|
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lmo7 |
C |
T |
14: 102,157,910 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
G |
T |
11: 103,388,457 (GRCm39) |
P2323T |
unknown |
Het |
| Lrrc38 |
A |
G |
4: 143,077,088 (GRCm39) |
Y117C |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,291,281 (GRCm39) |
V1024A |
probably benign |
Het |
| Or12d13 |
T |
A |
17: 37,647,917 (GRCm39) |
I69F |
probably damaging |
Het |
| Or4k47 |
T |
C |
2: 111,451,690 (GRCm39) |
H243R |
probably damaging |
Het |
| Or9g4b |
T |
C |
2: 85,616,437 (GRCm39) |
V194A |
possibly damaging |
Het |
| Pld4 |
A |
T |
12: 112,729,876 (GRCm39) |
I53F |
probably benign |
Het |
| Plekhg4 |
T |
A |
8: 106,108,309 (GRCm39) |
C1117* |
probably null |
Het |
| Prss39 |
G |
A |
1: 34,541,167 (GRCm39) |
E224K |
probably benign |
Het |
| Psme1 |
G |
T |
14: 55,818,107 (GRCm39) |
G149V |
probably damaging |
Het |
| Sanbr |
A |
C |
11: 23,561,762 (GRCm39) |
I358S |
probably benign |
Het |
| Soat2 |
T |
A |
15: 102,061,573 (GRCm39) |
|
probably null |
Het |
| Stab2 |
C |
T |
10: 86,742,997 (GRCm39) |
|
probably null |
Het |
| Tcf7l2 |
A |
G |
19: 55,731,627 (GRCm39) |
T127A |
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,142,091 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
G |
A |
13: 92,899,434 (GRCm39) |
|
probably benign |
Het |
| Tmf1 |
T |
C |
6: 97,150,261 (GRCm39) |
D482G |
probably damaging |
Het |
| Trim66 |
G |
T |
7: 109,071,526 (GRCm39) |
P591H |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,178,347 (GRCm39) |
S108P |
probably benign |
Het |
| Unc79 |
T |
G |
12: 103,041,112 (GRCm39) |
M715R |
probably benign |
Het |
| Usp34 |
C |
A |
11: 23,383,175 (GRCm39) |
|
probably benign |
Het |
| Utrn |
T |
G |
10: 12,331,310 (GRCm39) |
|
probably null |
Het |
| Zfp830 |
T |
C |
11: 82,656,165 (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 |
|
|
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 |
|
|
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'- AGAAGCTGTGTTTTCAGAGCCACC -3'
(R):5'- TCCGACAGCGCATACCATTTCC -3'
Sequencing Primer
(F):5'- TGTTTTCAGAGCCACCAGAGAAG -3'
(R):5'- CGCATACCATTTCCGGGTAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation