Incidental Mutation 'R5994:Myrf'
| ID |
481041 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myrf
|
| Ensembl Gene |
ENSMUSG00000036098 |
| Gene Name |
myelin regulatory factor |
| Synonyms |
Gm98, LOC386531, LOC225908 |
| MMRRC Submission |
044173-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.842)
|
| Stock # |
R5994 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
10208272-10240748 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 10219117 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 504
(L504Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088013]
[ENSMUST00000186056]
[ENSMUST00000189897]
|
| AlphaFold |
Q3UR85 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000088013
AA Change: L504Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098
AA Change: L504Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
346 |
N/A |
INTRINSIC |
|
Pfam:NDT80_PhoG
|
393 |
540 |
7.6e-31 |
PFAM |
|
Pfam:Peptidase_S74
|
587 |
647 |
5.3e-16 |
PFAM |
|
Pfam:MRF_C1
|
667 |
702 |
8.3e-26 |
PFAM |
|
low complexity region
|
773 |
784 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
884 |
N/A |
INTRINSIC |
|
Pfam:MRF_C2
|
977 |
1111 |
1.4e-43 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000186056
AA Change: L302Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140871
Gene: ENSMUSG00000036098
AA Change: L302Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
83 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
144 |
N/A |
INTRINSIC |
|
Pfam:NDT80_PhoG
|
191 |
338 |
6.9e-28 |
PFAM |
|
Pfam:Peptidase_S74
|
385 |
445 |
1.2e-12 |
PFAM |
|
Pfam:MRF_C1
|
465 |
500 |
1.4e-23 |
PFAM |
|
low complexity region
|
571 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
709 |
N/A |
INTRINSIC |
|
Pfam:MRF_C2
|
801 |
936 |
7e-52 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000186854
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189897
AA Change: L504Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098
AA Change: L504Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
346 |
N/A |
INTRINSIC |
|
Pfam:NDT80_PhoG
|
393 |
540 |
7.6e-31 |
PFAM |
|
Pfam:Peptidase_S74
|
587 |
647 |
1.1e-15 |
PFAM |
|
Pfam:MRF_C1
|
667 |
702 |
1.1e-26 |
PFAM |
|
low complexity region
|
773 |
784 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
884 |
N/A |
INTRINSIC |
|
Pfam:MRF_C2
|
976 |
1111 |
5.5e-55 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190922
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also directly promote myelin gene expression. Loss of a similar gene in mouse models results in severe demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,670,903 (GRCm38) |
H1118L |
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,949,766 (GRCm38) |
|
probably null |
Het |
| Abcb5 |
A |
T |
12: 118,965,260 (GRCm38) |
|
probably null |
Het |
| Adcy6 |
A |
T |
15: 98,593,664 (GRCm38) |
I1016N |
probably damaging |
Het |
| Afg3l2 |
A |
T |
18: 67,429,070 (GRCm38) |
C312S |
probably damaging |
Het |
| Ano8 |
C |
T |
8: 71,484,834 (GRCm38) |
V89M |
probably damaging |
Het |
| Arhgap21 |
C |
T |
2: 20,881,376 (GRCm38) |
G330D |
possibly damaging |
Het |
| Caskin1 |
T |
C |
17: 24,496,961 (GRCm38) |
L195P |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 93,039,081 (GRCm38) |
I514T |
probably damaging |
Het |
| Ctdsp2 |
G |
A |
10: 126,995,820 (GRCm38) |
|
probably benign |
Het |
| Cyp4x1 |
T |
C |
4: 115,121,945 (GRCm38) |
I152V |
probably benign |
Het |
| Dglucy |
G |
A |
12: 100,842,700 (GRCm38) |
R219Q |
probably benign |
Het |
| Disp3 |
G |
T |
4: 148,254,284 (GRCm38) |
A810E |
possibly damaging |
Het |
| Dtx4 |
T |
C |
19: 12,501,153 (GRCm38) |
Y22C |
probably damaging |
Het |
| Edaradd |
A |
T |
13: 12,478,496 (GRCm38) |
I105N |
probably damaging |
Het |
| Eepd1 |
C |
T |
9: 25,603,453 (GRCm38) |
P519S |
probably damaging |
Het |
| Fscn3 |
A |
T |
6: 28,430,295 (GRCm38) |
S155C |
probably benign |
Het |
| Gm10134 |
A |
T |
2: 28,506,246 (GRCm38) |
E51V |
probably damaging |
Het |
| Gm7247 |
C |
T |
14: 51,364,348 (GRCm38) |
S26F |
probably benign |
Het |
| Golga7 |
T |
C |
8: 23,250,265 (GRCm38) |
E83G |
probably benign |
Het |
| Gpr12 |
T |
C |
5: 146,583,431 (GRCm38) |
H227R |
probably damaging |
Het |
| Hoxa2 |
T |
G |
6: 52,164,392 (GRCm38) |
S85R |
possibly damaging |
Het |
| Hrnr |
T |
C |
3: 93,332,300 (GRCm38) |
S3282P |
unknown |
Het |
| Ift74 |
C |
A |
4: 94,691,724 (GRCm38) |
T543K |
possibly damaging |
Het |
| Klf10 |
C |
A |
15: 38,296,041 (GRCm38) |
R420L |
probably damaging |
Het |
| Krt77 |
T |
A |
15: 101,862,855 (GRCm38) |
I338F |
probably damaging |
Het |
| Limch1 |
A |
T |
5: 66,974,622 (GRCm38) |
S152C |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,541,496 (GRCm38) |
H270L |
probably benign |
Het |
| Nckipsd |
A |
G |
9: 108,813,977 (GRCm38) |
Q366R |
probably benign |
Het |
| Npy5r |
A |
T |
8: 66,682,099 (GRCm38) |
V14D |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,351,599 (GRCm38) |
R830* |
probably null |
Het |
| Ogfrl1 |
A |
T |
1: 23,378,989 (GRCm38) |
Y103N |
probably damaging |
Het |
| Olfr978 |
A |
T |
9: 39,994,223 (GRCm38) |
R138* |
probably null |
Het |
| P2rx4 |
T |
A |
5: 122,725,079 (GRCm38) |
L232H |
probably damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,773,894 (GRCm38) |
T71S |
probably benign |
Het |
| Paip2b |
C |
A |
6: 83,808,885 (GRCm38) |
S121I |
probably damaging |
Het |
| Pofut1 |
C |
T |
2: 153,261,229 (GRCm38) |
T261I |
possibly damaging |
Het |
| Ppp6c |
G |
T |
2: 39,210,992 (GRCm38) |
T46K |
possibly damaging |
Het |
| Prkd2 |
C |
A |
7: 16,850,336 (GRCm38) |
H371Q |
probably benign |
Het |
| Prrc2c |
A |
T |
1: 162,674,156 (GRCm38) |
|
probably null |
Het |
| Psd3 |
C |
T |
8: 67,719,968 (GRCm38) |
A894T |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,398,043 (GRCm38) |
|
probably null |
Het |
| Pzp |
A |
T |
6: 128,491,597 (GRCm38) |
M989K |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,361,453 (GRCm38) |
S1159T |
probably benign |
Het |
| Rapgefl1 |
T |
C |
11: 98,850,160 (GRCm38) |
F575L |
probably benign |
Het |
| Rassf6 |
A |
G |
5: 90,617,768 (GRCm38) |
L28S |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,954,900 (GRCm38) |
K268N |
probably damaging |
Het |
| Rela |
C |
T |
19: 5,647,064 (GRCm38) |
T433M |
possibly damaging |
Het |
| Rnf103 |
T |
A |
6: 71,496,910 (GRCm38) |
S102R |
probably damaging |
Het |
| Scarf2 |
A |
G |
16: 17,806,379 (GRCm38) |
N516S |
probably damaging |
Het |
| Sdcbp2 |
T |
C |
2: 151,587,483 (GRCm38) |
I241T |
probably damaging |
Het |
| Sept7 |
T |
C |
9: 25,288,198 (GRCm38) |
I131T |
possibly damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,407,570 (GRCm38) |
F191L |
probably damaging |
Het |
| Siglec15 |
C |
A |
18: 78,047,375 (GRCm38) |
C236F |
probably damaging |
Het |
| Slc11a2 |
T |
C |
15: 100,397,681 (GRCm38) |
T520A |
probably benign |
Het |
| Slc26a11 |
C |
A |
11: 119,379,912 (GRCm38) |
F553L |
probably benign |
Het |
| Smchd1 |
G |
A |
17: 71,365,409 (GRCm38) |
P1596S |
possibly damaging |
Het |
| Taar7b |
A |
G |
10: 24,000,348 (GRCm38) |
H137R |
probably damaging |
Het |
| Thap12 |
T |
A |
7: 98,716,030 (GRCm38) |
C468* |
probably null |
Het |
| Timp4 |
C |
T |
6: 115,247,354 (GRCm38) |
G118D |
probably damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,511,266 (GRCm38) |
K48E |
probably damaging |
Het |
| Trmt10a |
T |
A |
3: 138,156,714 (GRCm38) |
I255N |
probably damaging |
Het |
| Ttll10 |
T |
C |
4: 156,048,732 (GRCm38) |
|
probably null |
Het |
| Ube4b |
A |
G |
4: 149,372,932 (GRCm38) |
Y283H |
probably damaging |
Het |
| Ucp1 |
G |
T |
8: 83,293,938 (GRCm38) |
V126L |
possibly damaging |
Het |
| Unc13b |
T |
A |
4: 43,172,596 (GRCm38) |
|
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,875,772 (GRCm38) |
S2768P |
probably damaging |
Het |
| Zcchc6 |
T |
G |
13: 59,789,209 (GRCm38) |
Y806S |
probably damaging |
Het |
| Zfp101 |
T |
A |
17: 33,380,962 (GRCm38) |
M607L |
probably benign |
Het |
| Zfp292 |
C |
T |
4: 34,805,464 (GRCm38) |
V2527M |
possibly damaging |
Het |
| Zfp503 |
T |
A |
14: 21,985,562 (GRCm38) |
T429S |
possibly damaging |
Het |
|
| Other mutations in Myrf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Myrf
|
APN |
19 |
10,224,513 (GRCm38) |
missense |
probably benign |
0.30 |
|
IGL01132:Myrf
|
APN |
19 |
10,223,205 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01958:Myrf
|
APN |
19 |
10,210,378 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02154:Myrf
|
APN |
19 |
10,216,118 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02370:Myrf
|
APN |
19 |
10,214,140 (GRCm38) |
missense |
probably benign |
|
|
IGL02584:Myrf
|
APN |
19 |
10,212,223 (GRCm38) |
splice site |
probably benign |
|
|
IGL02817:Myrf
|
APN |
19 |
10,225,452 (GRCm38) |
missense |
probably benign |
0.45 |
|
R0312:Myrf
|
UTSW |
19 |
10,218,162 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0367:Myrf
|
UTSW |
19 |
10,218,162 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0389:Myrf
|
UTSW |
19 |
10,218,162 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0416:Myrf
|
UTSW |
19 |
10,215,812 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0446:Myrf
|
UTSW |
19 |
10,218,162 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0464:Myrf
|
UTSW |
19 |
10,218,162 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0465:Myrf
|
UTSW |
19 |
10,218,162 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0487:Myrf
|
UTSW |
19 |
10,218,162 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0533:Myrf
|
UTSW |
19 |
10,218,162 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0534:Myrf
|
UTSW |
19 |
10,218,162 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0570:Myrf
|
UTSW |
19 |
10,211,797 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0622:Myrf
|
UTSW |
19 |
10,223,452 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0631:Myrf
|
UTSW |
19 |
10,228,882 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0721:Myrf
|
UTSW |
19 |
10,216,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0848:Myrf
|
UTSW |
19 |
10,218,162 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1056:Myrf
|
UTSW |
19 |
10,223,486 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1574:Myrf
|
UTSW |
19 |
10,225,487 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1574:Myrf
|
UTSW |
19 |
10,225,487 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1801:Myrf
|
UTSW |
19 |
10,214,191 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1897:Myrf
|
UTSW |
19 |
10,218,232 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1950:Myrf
|
UTSW |
19 |
10,218,190 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1957:Myrf
|
UTSW |
19 |
10,219,796 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2089:Myrf
|
UTSW |
19 |
10,224,600 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R2091:Myrf
|
UTSW |
19 |
10,224,600 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R2091:Myrf
|
UTSW |
19 |
10,224,600 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R2139:Myrf
|
UTSW |
19 |
10,216,467 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2144:Myrf
|
UTSW |
19 |
10,228,674 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3932:Myrf
|
UTSW |
19 |
10,218,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3964:Myrf
|
UTSW |
19 |
10,219,615 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3966:Myrf
|
UTSW |
19 |
10,219,615 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3970:Myrf
|
UTSW |
19 |
10,223,237 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4607:Myrf
|
UTSW |
19 |
10,229,067 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4746:Myrf
|
UTSW |
19 |
10,218,591 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5117:Myrf
|
UTSW |
19 |
10,212,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5598:Myrf
|
UTSW |
19 |
10,215,290 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5719:Myrf
|
UTSW |
19 |
10,216,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5841:Myrf
|
UTSW |
19 |
10,223,547 (GRCm38) |
missense |
probably null |
1.00 |
|
R6148:Myrf
|
UTSW |
19 |
10,212,475 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6229:Myrf
|
UTSW |
19 |
10,219,798 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6477:Myrf
|
UTSW |
19 |
10,228,785 (GRCm38) |
missense |
probably benign |
0.41 |
|
R6623:Myrf
|
UTSW |
19 |
10,223,359 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6878:Myrf
|
UTSW |
19 |
10,216,478 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R6932:Myrf
|
UTSW |
19 |
10,219,560 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7127:Myrf
|
UTSW |
19 |
10,215,341 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7162:Myrf
|
UTSW |
19 |
10,218,646 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7553:Myrf
|
UTSW |
19 |
10,228,876 (GRCm38) |
missense |
probably benign |
|
|
R7585:Myrf
|
UTSW |
19 |
10,216,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7838:Myrf
|
UTSW |
19 |
10,219,619 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R8340:Myrf
|
UTSW |
19 |
10,215,341 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8712:Myrf
|
UTSW |
19 |
10,215,070 (GRCm38) |
missense |
probably benign |
0.38 |
|
R8876:Myrf
|
UTSW |
19 |
10,229,014 (GRCm38) |
splice site |
probably benign |
|
|
R8932:Myrf
|
UTSW |
19 |
10,223,567 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9111:Myrf
|
UTSW |
19 |
10,214,057 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9496:Myrf
|
UTSW |
19 |
10,216,476 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9648:Myrf
|
UTSW |
19 |
10,210,646 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
X0028:Myrf
|
UTSW |
19 |
10,212,158 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Myrf
|
UTSW |
19 |
10,221,298 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Myrf
|
UTSW |
19 |
10,219,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGCCTAGACAGGATGAC -3'
(R):5'- CCCTAGTGGAGGCTCATATTTC -3'
Sequencing Primer
(F):5'- ATGCAGCCACTGTCCAGC -3'
(R):5'- CTCCTCTGTGGGATACTGTGATAAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation