Incidental Mutation 'R1187:Myrfl'
| ID |
102273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myrfl
|
| Ensembl Gene |
ENSMUSG00000034057 |
| Gene Name |
myelin regulatory factor-like |
| Synonyms |
Gm239, LOC237558 |
| MMRRC Submission |
039259-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1187 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
116612450-116732784 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116667447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 331
(T331I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048229]
|
| AlphaFold |
Q3UN70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048229
AA Change: T331I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037477
Gene: ENSMUSG00000034057
AA Change: T331I
| 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: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 89.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,478,981 (GRCm39) |
M4276I |
probably benign |
Het |
| Apol7b |
A |
T |
15: 77,307,603 (GRCm39) |
F297L |
possibly damaging |
Het |
| Capsl |
C |
T |
15: 9,457,807 (GRCm39) |
R9W |
probably damaging |
Het |
| Catsperb |
T |
C |
12: 101,591,991 (GRCm39) |
V1107A |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,820,656 (GRCm39) |
N132K |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,715,504 (GRCm39) |
I544M |
probably benign |
Het |
| Cma2 |
T |
C |
14: 56,210,280 (GRCm39) |
V55A |
probably benign |
Het |
| Col10a1 |
A |
T |
10: 34,270,834 (GRCm39) |
I269F |
probably benign |
Het |
| Col26a1 |
G |
A |
5: 136,773,020 (GRCm39) |
H385Y |
probably damaging |
Het |
| Ctdp1 |
A |
G |
18: 80,492,702 (GRCm39) |
Y598H |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,289,520 (GRCm39) |
S296P |
probably benign |
Het |
| Dvl2 |
A |
T |
11: 69,896,962 (GRCm39) |
T250S |
probably benign |
Het |
| Etv1 |
A |
G |
12: 38,915,563 (GRCm39) |
Y410C |
probably damaging |
Het |
| Krcc1 |
A |
T |
6: 71,261,612 (GRCm39) |
K215* |
probably null |
Het |
| Lrr1 |
A |
T |
12: 69,221,796 (GRCm39) |
T313S |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,866,039 (GRCm39) |
E1234V |
probably damaging |
Het |
| Mepe |
G |
A |
5: 104,486,114 (GRCm39) |
R418H |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,233,687 (GRCm39) |
W26R |
probably damaging |
Het |
| Nsrp1 |
G |
A |
11: 76,936,853 (GRCm39) |
P448S |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Olfml2a |
A |
G |
2: 38,849,825 (GRCm39) |
N514D |
probably damaging |
Het |
| Or2l5 |
T |
C |
16: 19,333,796 (GRCm39) |
T197A |
probably benign |
Het |
| Or2y17 |
T |
G |
11: 49,231,417 (GRCm39) |
D19E |
probably damaging |
Het |
| Pcdhb1 |
C |
T |
18: 37,398,597 (GRCm39) |
R183C |
probably damaging |
Het |
| Phf14 |
T |
G |
6: 11,941,495 (GRCm39) |
C41G |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,361,447 (GRCm39) |
V499A |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,810,314 (GRCm39) |
I638V |
probably benign |
Het |
| Ppp4c |
T |
A |
7: 126,385,372 (GRCm39) |
I296F |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,577,610 (GRCm39) |
V2388A |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,420,184 (GRCm39) |
D353G |
probably benign |
Het |
| Rnf19b |
T |
G |
4: 128,969,360 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
C |
T |
2: 112,788,521 (GRCm39) |
D190N |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sema3e |
G |
A |
5: 14,282,098 (GRCm39) |
M411I |
probably damaging |
Het |
| Sgsh |
A |
T |
11: 119,237,404 (GRCm39) |
Y403* |
probably null |
Het |
| Sh2d7 |
T |
A |
9: 54,448,471 (GRCm39) |
L164Q |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,894,314 (GRCm39) |
V775E |
probably damaging |
Het |
| Smgc |
G |
A |
15: 91,744,798 (GRCm39) |
G287S |
probably damaging |
Het |
| Soat1 |
T |
A |
1: 156,261,745 (GRCm39) |
Y421F |
probably damaging |
Het |
| Sri |
T |
C |
5: 8,109,416 (GRCm39) |
Y52H |
probably damaging |
Het |
| Stat4 |
C |
A |
1: 52,115,836 (GRCm39) |
Q259K |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,628,206 (GRCm39) |
L1023P |
probably damaging |
Het |
| Ush1c |
T |
A |
7: 45,858,338 (GRCm39) |
N650I |
probably benign |
Het |
| Vmn2r8 |
G |
T |
5: 108,951,085 (GRCm39) |
S120* |
probably null |
Het |
| Zbed6 |
G |
A |
1: 133,586,941 (GRCm39) |
T132I |
probably damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp629 |
A |
G |
7: 127,209,401 (GRCm39) |
S803P |
probably benign |
Het |
| Zfp629 |
T |
C |
7: 127,211,059 (GRCm39) |
K250R |
probably damaging |
Het |
| Zfp758 |
T |
A |
17: 22,594,171 (GRCm39) |
I187N |
probably benign |
Het |
| Zfp85 |
T |
A |
13: 67,897,835 (GRCm39) |
K79I |
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 |
|
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 |
|
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'- TTTGAGCATTGCTGAGAGTGAGGAC -3'
(R):5'- TGATGGACACTTCTACCCACGCTG -3'
Sequencing Primer
(F):5'- AGGGAATCCCCGATGCTG -3'
(R):5'- GCTGTGGAGCCCTAAGTAAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation