Incidental Mutation 'R6091:Myrfl'
| ID |
485933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myrfl
|
| Ensembl Gene |
ENSMUSG00000034057 |
| Gene Name |
myelin regulatory factor-like |
| Synonyms |
Gm239, LOC237558 |
| MMRRC Submission |
044248-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6091 (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: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
96% (54/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
G |
2: 35,252,348 (GRCm39) |
T50P |
possibly damaging |
Het |
| Adad1 |
A |
G |
3: 37,139,118 (GRCm39) |
E396G |
possibly damaging |
Het |
| Adamtsl3 |
T |
A |
7: 82,114,829 (GRCm39) |
C232S |
probably damaging |
Het |
| AI606181 |
T |
C |
19: 41,582,063 (GRCm39) |
S78P |
unknown |
Het |
| Amph |
T |
A |
13: 19,309,293 (GRCm39) |
M457K |
probably benign |
Het |
| Ano1 |
A |
T |
7: 144,223,171 (GRCm39) |
M174K |
probably benign |
Het |
| C3 |
T |
A |
17: 57,528,967 (GRCm39) |
K632* |
probably null |
Het |
| Cep170 |
C |
T |
1: 176,583,397 (GRCm39) |
G994D |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,751,875 (GRCm39) |
V124A |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,761,691 (GRCm39) |
K2259E |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,784,402 (GRCm39) |
T137A |
unknown |
Het |
| Dcc |
C |
T |
18: 71,942,185 (GRCm39) |
V311I |
probably benign |
Het |
| Ddx42 |
A |
T |
11: 106,125,796 (GRCm39) |
Q282L |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,804,390 (GRCm39) |
T1833A |
possibly damaging |
Het |
| Fpr-rs3 |
A |
G |
17: 20,844,532 (GRCm39) |
I203T |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,818,796 (GRCm39) |
I2139T |
probably benign |
Het |
| Frmpd2 |
T |
C |
14: 33,244,820 (GRCm39) |
V546A |
probably damaging |
Het |
| Gbp11 |
G |
T |
5: 105,479,254 (GRCm39) |
T123N |
possibly damaging |
Het |
| Hs3st1 |
G |
A |
5: 39,772,007 (GRCm39) |
P212L |
probably damaging |
Het |
| Ifnb1 |
T |
A |
4: 88,440,813 (GRCm39) |
M67L |
probably benign |
Het |
| Ighv1-54 |
T |
C |
12: 115,157,497 (GRCm39) |
N50S |
probably benign |
Het |
| Ikzf4 |
G |
A |
10: 128,470,542 (GRCm39) |
T326I |
probably benign |
Het |
| Ints2 |
A |
T |
11: 86,127,429 (GRCm39) |
V501E |
probably damaging |
Het |
| Mfsd1 |
C |
A |
3: 67,507,270 (GRCm39) |
|
probably null |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mrps11 |
G |
A |
7: 78,438,466 (GRCm39) |
A73T |
possibly damaging |
Het |
| Mterf4 |
T |
C |
1: 93,229,291 (GRCm39) |
E311G |
probably damaging |
Het |
| Mx2 |
A |
G |
16: 97,347,635 (GRCm39) |
T176A |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,460,482 (GRCm39) |
L1495R |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,069,113 (GRCm39) |
T451A |
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,220,715 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,310,443 (GRCm39) |
L201P |
probably damaging |
Het |
| Nfxl1 |
G |
T |
5: 72,671,533 (GRCm39) |
L909I |
probably benign |
Het |
| Nr3c1 |
GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
18: 39,620,011 (GRCm39) |
|
probably benign |
Het |
| Or5aq1b |
T |
A |
2: 86,901,705 (GRCm39) |
S258C |
probably benign |
Het |
| Plscr5 |
A |
G |
9: 92,086,437 (GRCm39) |
T136A |
probably benign |
Het |
| Ppp1r3a |
G |
A |
6: 14,719,339 (GRCm39) |
T525I |
probably benign |
Het |
| Ptprg |
G |
A |
14: 12,215,979 (GRCm38) |
G1143R |
probably damaging |
Het |
| Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,771,398 (GRCm39) |
T2541A |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,755,247 (GRCm39) |
L1244P |
probably damaging |
Het |
| Sec16a |
G |
A |
2: 26,316,482 (GRCm39) |
H1673Y |
probably damaging |
Het |
| Slc22a19 |
A |
G |
19: 7,688,428 (GRCm39) |
I44T |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,721,681 (GRCm39) |
N53Y |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,276,539 (GRCm39) |
T338A |
possibly damaging |
Het |
| Taf6l |
T |
C |
19: 8,755,920 (GRCm39) |
T243A |
probably benign |
Het |
| Tex10 |
T |
C |
4: 48,459,891 (GRCm39) |
R487G |
probably damaging |
Het |
| Tfcp2 |
G |
T |
15: 100,410,194 (GRCm39) |
T391N |
probably damaging |
Het |
| Tnxb |
G |
A |
17: 34,929,338 (GRCm39) |
V2794M |
probably damaging |
Het |
| Ush2a |
T |
G |
1: 188,132,000 (GRCm39) |
C741G |
probably damaging |
Het |
| Vmn1r3 |
T |
A |
4: 3,184,684 (GRCm39) |
I208F |
probably damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,496,790 (GRCm39) |
I21F |
possibly damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,545,958 (GRCm39) |
D610G |
probably benign |
Het |
| Wbp1 |
T |
C |
6: 83,096,468 (GRCm39) |
S229G |
probably benign |
Het |
| Xirp1 |
A |
G |
9: 119,847,029 (GRCm39) |
V618A |
probably benign |
Het |
| Zbtb32 |
A |
G |
7: 30,291,254 (GRCm39) |
S14P |
possibly damaging |
Het |
| Zfp24 |
A |
G |
18: 24,147,269 (GRCm39) |
S348P |
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 |
|
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 |
|
|
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'- GTGGATGCTGAAGTGATTCCAAAC -3'
(R):5'- CTCCACAGGTCAAAGGTGAGTG -3'
Sequencing Primer
(F):5'- ATGCTTTACCCAGGAACGTG -3'
(R):5'- GTGAGTGAGTCCATCCACATAGC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation