Incidental Mutation 'IGL01394:Myrfl'
| ID |
79342 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Myrfl
|
| Ensembl Gene |
ENSMUSG00000034057 |
| Gene Name |
myelin regulatory factor-like |
| Synonyms |
Gm239, LOC237558 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01394
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
116612450-116732784 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116658592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 455
(Q455R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048229]
|
| AlphaFold |
Q3UN70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048229
AA Change: Q455R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000037477
Gene: ENSMUSG00000034057
AA Change: Q455R
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
G |
A |
7: 130,747,960 (GRCm39) |
Q11* |
probably null |
Het |
| Acot5 |
T |
C |
12: 84,122,262 (GRCm39) |
I282T |
probably benign |
Het |
| Adcy2 |
A |
G |
13: 69,130,521 (GRCm39) |
V122A |
probably damaging |
Het |
| Aldh16a1 |
A |
C |
7: 44,794,937 (GRCm39) |
S511A |
probably benign |
Het |
| Arid3b |
T |
C |
9: 57,702,317 (GRCm39) |
E480G |
probably damaging |
Het |
| Baz2a |
T |
C |
10: 127,954,514 (GRCm39) |
V723A |
possibly damaging |
Het |
| Bmpr1b |
A |
G |
3: 141,568,742 (GRCm39) |
|
probably null |
Het |
| Ccdc83 |
T |
C |
7: 89,873,209 (GRCm39) |
E382G |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,246,895 (GRCm39) |
Y349H |
probably damaging |
Het |
| Clpx |
T |
C |
9: 65,217,495 (GRCm39) |
V21A |
probably damaging |
Het |
| Clstn1 |
A |
G |
4: 149,719,239 (GRCm39) |
N356S |
possibly damaging |
Het |
| Ctnnd1 |
A |
G |
2: 84,435,600 (GRCm39) |
|
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,367,945 (GRCm39) |
N505S |
probably benign |
Het |
| Eaf2 |
G |
A |
16: 36,630,928 (GRCm39) |
P82S |
probably damaging |
Het |
| Fbxw26 |
T |
C |
9: 109,547,057 (GRCm39) |
Y456C |
probably benign |
Het |
| Foxred2 |
T |
C |
15: 77,839,820 (GRCm39) |
T157A |
probably benign |
Het |
| Fscb |
A |
T |
12: 64,520,578 (GRCm39) |
I296K |
possibly damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,281,424 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
A |
G |
16: 36,751,926 (GRCm39) |
E3120G |
probably damaging |
Het |
| Ift140 |
A |
G |
17: 25,313,676 (GRCm39) |
D1369G |
probably benign |
Het |
| Kcnk13 |
T |
C |
12: 100,027,921 (GRCm39) |
V332A |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,664,983 (GRCm39) |
D661E |
probably null |
Het |
| Lum |
A |
T |
10: 97,404,834 (GRCm39) |
D243V |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,220,975 (GRCm39) |
T86A |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,210,728 (GRCm39) |
V1706D |
possibly damaging |
Het |
| Or6k2 |
T |
C |
1: 173,986,423 (GRCm39) |
F28S |
probably damaging |
Het |
| Or8c20 |
T |
A |
9: 38,261,101 (GRCm39) |
S241T |
possibly damaging |
Het |
| Papolg |
G |
A |
11: 23,817,235 (GRCm39) |
T654I |
probably benign |
Het |
| Pappa2 |
G |
A |
1: 158,592,674 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
C |
T |
17: 84,864,858 (GRCm39) |
T82I |
probably benign |
Het |
| Prrc2a |
A |
G |
17: 35,372,080 (GRCm39) |
V1773A |
probably benign |
Het |
| Psmb8 |
G |
T |
17: 34,419,703 (GRCm39) |
V186L |
probably damaging |
Het |
| Rin3 |
T |
C |
12: 102,339,862 (GRCm39) |
V604A |
probably damaging |
Het |
| Rtn1 |
T |
C |
12: 72,355,190 (GRCm39) |
D252G |
probably benign |
Het |
| Sdk1 |
C |
T |
5: 141,598,970 (GRCm39) |
H212Y |
probably benign |
Het |
| Slc5a5 |
G |
T |
8: 71,342,032 (GRCm39) |
Y307* |
probably null |
Het |
| Slc9a9 |
T |
A |
9: 95,005,090 (GRCm39) |
L499Q |
probably benign |
Het |
| Snx8 |
C |
A |
5: 140,337,934 (GRCm39) |
G237V |
probably benign |
Het |
| Spata18 |
T |
A |
5: 73,836,688 (GRCm39) |
|
probably null |
Het |
| Stard9 |
A |
G |
2: 120,536,808 (GRCm39) |
E417G |
possibly damaging |
Het |
| Ubr5 |
T |
C |
15: 38,009,875 (GRCm39) |
D1034G |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 6,045,024 (GRCm39) |
|
probably null |
Het |
| Xrcc6 |
A |
G |
15: 81,909,862 (GRCm39) |
K89R |
possibly damaging |
Het |
| Yeats2 |
T |
C |
16: 19,980,782 (GRCm39) |
V237A |
probably damaging |
Het |
| Zdhhc6 |
A |
G |
19: 55,298,324 (GRCm39) |
W178R |
probably benign |
Het |
| Zfp280b |
C |
A |
10: 75,875,497 (GRCm39) |
Q459K |
probably damaging |
Het |
| Zfp811 |
C |
A |
17: 33,016,794 (GRCm39) |
K414N |
probably 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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation