Incidental Mutation 'R6457:Myt1'
ID |
517803 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myt1
|
Ensembl Gene |
ENSMUSG00000010505 |
Gene Name |
myelin transcription factor 1 |
Synonyms |
NZF-2b, NZF-2a, Nztf2, Nzf2 |
MMRRC Submission |
044592-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6457 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
181405125-181469590 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 181405218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081125]
[ENSMUST00000108756]
[ENSMUST00000108757]
[ENSMUST00000183403]
|
AlphaFold |
Q8CFC2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000081125
|
SMART Domains |
Protein: ENSMUSP00000079900 Gene: ENSMUSG00000010505
Domain | Start | End | E-Value | Type |
Pfam:zf-C2HC
|
71 |
99 |
8.7e-16 |
PFAM |
low complexity region
|
155 |
160 |
N/A |
INTRINSIC |
low complexity region
|
185 |
201 |
N/A |
INTRINSIC |
coiled coil region
|
300 |
354 |
N/A |
INTRINSIC |
low complexity region
|
388 |
405 |
N/A |
INTRINSIC |
Pfam:zf-C2HC
|
485 |
512 |
2.9e-14 |
PFAM |
Pfam:zf-C2HC
|
529 |
557 |
4.3e-16 |
PFAM |
Pfam:MYT1
|
604 |
660 |
2e-28 |
PFAM |
Pfam:MYT1
|
659 |
835 |
2.3e-56 |
PFAM |
Pfam:zf-C2HC
|
843 |
871 |
2e-18 |
PFAM |
Pfam:zf-C2HC
|
887 |
915 |
1.9e-18 |
PFAM |
Pfam:zf-C2HC
|
936 |
964 |
2.1e-16 |
PFAM |
Pfam:zf-C2HC
|
989 |
1017 |
8.4e-16 |
PFAM |
coiled coil region
|
1037 |
1109 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108756
|
SMART Domains |
Protein: ENSMUSP00000104387 Gene: ENSMUSG00000010505
Domain | Start | End | E-Value | Type |
Pfam:zf-C2HC
|
27 |
57 |
5.1e-18 |
PFAM |
low complexity region
|
113 |
118 |
N/A |
INTRINSIC |
low complexity region
|
143 |
159 |
N/A |
INTRINSIC |
coiled coil region
|
258 |
312 |
N/A |
INTRINSIC |
low complexity region
|
346 |
363 |
N/A |
INTRINSIC |
Pfam:zf-C2HC
|
441 |
471 |
5e-17 |
PFAM |
Pfam:zf-C2HC
|
485 |
515 |
3.1e-18 |
PFAM |
Pfam:MYT1
|
562 |
618 |
2.4e-32 |
PFAM |
Pfam:MYT1
|
617 |
794 |
2e-74 |
PFAM |
Pfam:zf-C2HC
|
799 |
829 |
1.9e-19 |
PFAM |
Pfam:zf-C2HC
|
843 |
873 |
9.7e-20 |
PFAM |
Pfam:zf-C2HC
|
892 |
922 |
2.2e-18 |
PFAM |
Pfam:zf-C2HC
|
945 |
975 |
1.7e-16 |
PFAM |
coiled coil region
|
995 |
1067 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108757
|
SMART Domains |
Protein: ENSMUSP00000104388 Gene: ENSMUSG00000010505
Domain | Start | End | E-Value | Type |
Pfam:zf-C2HC
|
27 |
57 |
1e-17 |
PFAM |
low complexity region
|
113 |
118 |
N/A |
INTRINSIC |
low complexity region
|
143 |
159 |
N/A |
INTRINSIC |
coiled coil region
|
258 |
312 |
N/A |
INTRINSIC |
low complexity region
|
346 |
363 |
N/A |
INTRINSIC |
Pfam:zf-C2HC
|
441 |
471 |
1e-16 |
PFAM |
Pfam:zf-C2HC
|
485 |
510 |
6.2e-12 |
PFAM |
Pfam:MYT1
|
524 |
580 |
2.7e-32 |
PFAM |
Pfam:MYT1
|
579 |
756 |
2.3e-74 |
PFAM |
Pfam:zf-C2HC
|
761 |
791 |
3.8e-19 |
PFAM |
Pfam:zf-C2HC
|
805 |
835 |
1.9e-19 |
PFAM |
Pfam:zf-C2HC
|
854 |
884 |
4.3e-18 |
PFAM |
Pfam:zf-C2HC
|
907 |
937 |
3.3e-16 |
PFAM |
coiled coil region
|
957 |
1029 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156190
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183403
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223883
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
Validation Efficiency |
97% (63/65) |
MGI Phenotype |
FUNCTION: This gene is a member of the myelin transcription factor 1 gene family. The encoded protein, a zinc finger DNA-binding protein, is involved in regulation of oligodendrocyte differentiation and proliferation in the developing central nervous system. The gene product has a role in remyelination through regeneration of oligodendrocyte lineage cells in response to demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010] PHENOTYPE: Mice homozygous for a knock-out allele die shortly after birth displaying improper diaphragm innervation and a failture to initiate breathing; mutant embryonic pancreata contain abnormal islet cells that express multiple hormones. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,772,383 (GRCm39) |
V524E |
probably damaging |
Het |
Acer2 |
T |
A |
4: 86,818,808 (GRCm39) |
M152K |
probably damaging |
Het |
Actn3 |
T |
C |
19: 4,921,876 (GRCm39) |
D130G |
probably damaging |
Het |
Ank1 |
T |
A |
8: 23,577,983 (GRCm39) |
F211Y |
probably damaging |
Het |
Ankfn1 |
C |
T |
11: 89,282,670 (GRCm39) |
A326T |
probably benign |
Het |
Ankrd11 |
G |
A |
8: 123,635,503 (GRCm39) |
R44C |
probably damaging |
Het |
Ankrd46 |
A |
G |
15: 36,484,217 (GRCm39) |
|
probably benign |
Het |
Aurkb |
G |
A |
11: 68,939,172 (GRCm39) |
E132K |
possibly damaging |
Het |
Bsdc1 |
C |
T |
4: 129,359,069 (GRCm39) |
T9I |
possibly damaging |
Het |
Card14 |
C |
T |
11: 119,230,428 (GRCm39) |
R767* |
probably null |
Het |
Ccdc82 |
T |
A |
9: 13,272,745 (GRCm39) |
F411L |
possibly damaging |
Het |
Col12a1 |
C |
T |
9: 79,552,973 (GRCm39) |
G2106D |
probably damaging |
Het |
Col27a1 |
T |
A |
4: 63,237,701 (GRCm39) |
|
probably benign |
Het |
Cox10 |
A |
G |
11: 63,855,198 (GRCm39) |
L361P |
probably damaging |
Het |
Cox18 |
A |
G |
5: 90,371,548 (GRCm39) |
I84T |
probably benign |
Het |
Dhrs3 |
T |
C |
4: 144,646,522 (GRCm39) |
S125P |
probably damaging |
Het |
Fbxl15 |
A |
G |
19: 46,317,765 (GRCm39) |
H149R |
probably benign |
Het |
Flg2 |
T |
A |
3: 93,127,789 (GRCm39) |
S2234T |
unknown |
Het |
Gtf2e1 |
A |
C |
16: 37,356,698 (GRCm39) |
|
probably null |
Het |
H2-Q7 |
A |
T |
17: 35,658,655 (GRCm39) |
S98C |
probably damaging |
Het |
Hcn2 |
G |
T |
10: 79,569,607 (GRCm39) |
E536* |
probably null |
Het |
Kat6b |
A |
T |
14: 21,720,748 (GRCm39) |
H1700L |
probably damaging |
Het |
Klhl3 |
C |
T |
13: 58,248,192 (GRCm39) |
V35I |
probably benign |
Het |
Krt34 |
A |
T |
11: 99,930,916 (GRCm39) |
L162Q |
probably damaging |
Het |
Ly9 |
A |
G |
1: 171,416,663 (GRCm39) |
S644P |
probably damaging |
Het |
Magi1 |
A |
T |
6: 93,676,620 (GRCm39) |
V685E |
probably damaging |
Het |
Malrd1 |
A |
G |
2: 15,531,408 (GRCm39) |
|
probably benign |
Het |
Malrd1 |
A |
T |
2: 15,672,740 (GRCm39) |
H599L |
probably benign |
Het |
Matn2 |
T |
A |
15: 34,426,380 (GRCm39) |
C631S |
probably damaging |
Het |
Megf8 |
A |
T |
7: 25,049,120 (GRCm39) |
D1739V |
probably damaging |
Het |
Mlf1 |
G |
A |
3: 67,300,277 (GRCm39) |
R98Q |
probably benign |
Het |
Mprip |
T |
A |
11: 59,649,815 (GRCm39) |
I1173K |
possibly damaging |
Het |
Mrc1 |
A |
G |
2: 14,275,016 (GRCm39) |
D439G |
probably damaging |
Het |
Mroh5 |
A |
T |
15: 73,662,691 (GRCm39) |
W208R |
probably damaging |
Het |
Ms4a5 |
T |
G |
19: 11,256,646 (GRCm39) |
I84L |
probably benign |
Het |
Nbea |
T |
A |
3: 55,907,990 (GRCm39) |
H1374L |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,292,633 (GRCm39) |
I1095K |
probably benign |
Het |
Nolc1 |
A |
G |
19: 46,071,509 (GRCm39) |
|
probably benign |
Het |
Nr5a2 |
A |
G |
1: 136,887,976 (GRCm39) |
L18P |
probably benign |
Het |
Nup188 |
G |
T |
2: 30,212,199 (GRCm39) |
C562F |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,971,597 (GRCm39) |
V2415A |
probably damaging |
Het |
Pacsin2 |
A |
T |
15: 83,263,879 (GRCm39) |
|
probably null |
Het |
Pias3 |
A |
G |
3: 96,606,839 (GRCm39) |
H34R |
possibly damaging |
Het |
Ppfia2 |
T |
C |
10: 106,729,361 (GRCm39) |
V903A |
probably damaging |
Het |
Pramel1 |
T |
A |
4: 143,123,275 (GRCm39) |
L84Q |
probably damaging |
Het |
Pramel6 |
G |
A |
2: 87,339,782 (GRCm39) |
C182Y |
probably damaging |
Het |
Prdm4 |
A |
G |
10: 85,743,896 (GRCm39) |
Y120H |
probably damaging |
Het |
Prss28 |
A |
G |
17: 25,530,331 (GRCm39) |
M212V |
probably benign |
Het |
Rbp3 |
G |
T |
14: 33,677,224 (GRCm39) |
G391* |
probably null |
Het |
Rc3h2 |
C |
T |
2: 37,301,151 (GRCm39) |
|
probably null |
Het |
Ret |
A |
G |
6: 118,150,582 (GRCm39) |
F645L |
probably benign |
Het |
Saxo5 |
T |
C |
8: 3,529,268 (GRCm39) |
L251P |
probably damaging |
Het |
Sgsm2 |
A |
G |
11: 74,755,995 (GRCm39) |
S402P |
possibly damaging |
Het |
Shc3 |
T |
A |
13: 51,636,915 (GRCm39) |
|
probably null |
Het |
Slc25a16 |
A |
G |
10: 62,776,938 (GRCm39) |
N246S |
probably benign |
Het |
Snrpd1 |
T |
A |
18: 10,623,694 (GRCm39) |
H26Q |
probably benign |
Het |
Thsd1 |
A |
G |
8: 22,733,363 (GRCm39) |
T137A |
probably damaging |
Het |
Tnik |
A |
T |
3: 28,593,597 (GRCm39) |
H151L |
probably damaging |
Het |
Tns1 |
T |
A |
1: 73,957,209 (GRCm39) |
K1725N |
probably damaging |
Het |
Tomm40l |
T |
A |
1: 171,048,161 (GRCm39) |
T147S |
probably damaging |
Het |
Tomm6 |
G |
T |
17: 47,998,932 (GRCm39) |
|
probably benign |
Het |
Trp53 |
G |
A |
11: 69,480,440 (GRCm39) |
C272Y |
probably damaging |
Het |
Trpm7 |
A |
T |
2: 126,649,214 (GRCm39) |
V1492E |
probably benign |
Het |
Tsen2 |
G |
A |
6: 115,536,592 (GRCm39) |
R116H |
probably benign |
Het |
Uvrag |
A |
G |
7: 98,555,726 (GRCm39) |
F456S |
probably damaging |
Het |
Vmn1r86 |
A |
T |
7: 12,836,279 (GRCm39) |
M199K |
possibly damaging |
Het |
Vmn2r4 |
C |
T |
3: 64,317,378 (GRCm39) |
C120Y |
probably damaging |
Het |
|
Other mutations in Myt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00478:Myt1
|
APN |
2 |
181,442,908 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00816:Myt1
|
APN |
2 |
181,449,308 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01062:Myt1
|
APN |
2 |
181,439,522 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01069:Myt1
|
APN |
2 |
181,467,749 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01292:Myt1
|
APN |
2 |
181,446,805 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01521:Myt1
|
APN |
2 |
181,467,704 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01926:Myt1
|
APN |
2 |
181,463,790 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01976:Myt1
|
APN |
2 |
181,437,532 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02066:Myt1
|
APN |
2 |
181,438,982 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02109:Myt1
|
APN |
2 |
181,457,410 (GRCm39) |
splice site |
probably benign |
|
IGL02209:Myt1
|
APN |
2 |
181,439,027 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02499:Myt1
|
APN |
2 |
181,467,342 (GRCm39) |
splice site |
probably benign |
|
IGL03064:Myt1
|
APN |
2 |
181,439,594 (GRCm39) |
missense |
probably benign |
0.31 |
IGL03394:Myt1
|
APN |
2 |
181,439,638 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4366001:Myt1
|
UTSW |
2 |
181,467,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R0003:Myt1
|
UTSW |
2 |
181,443,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R0003:Myt1
|
UTSW |
2 |
181,443,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R0362:Myt1
|
UTSW |
2 |
181,405,186 (GRCm39) |
unclassified |
probably benign |
|
R0627:Myt1
|
UTSW |
2 |
181,437,482 (GRCm39) |
missense |
probably benign |
0.10 |
R0650:Myt1
|
UTSW |
2 |
181,424,408 (GRCm39) |
nonsense |
probably null |
|
R0735:Myt1
|
UTSW |
2 |
181,449,180 (GRCm39) |
unclassified |
probably benign |
|
R0744:Myt1
|
UTSW |
2 |
181,439,298 (GRCm39) |
intron |
probably benign |
|
R1115:Myt1
|
UTSW |
2 |
181,453,024 (GRCm39) |
nonsense |
probably null |
|
R1460:Myt1
|
UTSW |
2 |
181,444,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R1471:Myt1
|
UTSW |
2 |
181,438,904 (GRCm39) |
missense |
probably benign |
|
R1836:Myt1
|
UTSW |
2 |
181,439,068 (GRCm39) |
missense |
probably benign |
|
R1905:Myt1
|
UTSW |
2 |
181,439,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R2007:Myt1
|
UTSW |
2 |
181,437,552 (GRCm39) |
missense |
probably benign |
|
R2040:Myt1
|
UTSW |
2 |
181,467,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R2140:Myt1
|
UTSW |
2 |
181,467,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R2323:Myt1
|
UTSW |
2 |
181,448,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R2926:Myt1
|
UTSW |
2 |
181,467,803 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3895:Myt1
|
UTSW |
2 |
181,461,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R4093:Myt1
|
UTSW |
2 |
181,453,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R4649:Myt1
|
UTSW |
2 |
181,439,207 (GRCm39) |
missense |
probably benign |
|
R4693:Myt1
|
UTSW |
2 |
181,437,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R4775:Myt1
|
UTSW |
2 |
181,464,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R4835:Myt1
|
UTSW |
2 |
181,439,255 (GRCm39) |
missense |
probably damaging |
0.99 |
R5111:Myt1
|
UTSW |
2 |
181,437,678 (GRCm39) |
missense |
probably benign |
0.01 |
R5120:Myt1
|
UTSW |
2 |
181,439,413 (GRCm39) |
missense |
probably benign |
0.25 |
R5622:Myt1
|
UTSW |
2 |
181,438,915 (GRCm39) |
missense |
probably benign |
|
R6704:Myt1
|
UTSW |
2 |
181,453,005 (GRCm39) |
start codon destroyed |
probably null |
|
R6752:Myt1
|
UTSW |
2 |
181,442,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R6944:Myt1
|
UTSW |
2 |
181,439,387 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7337:Myt1
|
UTSW |
2 |
181,444,756 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7362:Myt1
|
UTSW |
2 |
181,439,033 (GRCm39) |
missense |
probably benign |
0.00 |
R7368:Myt1
|
UTSW |
2 |
181,424,384 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7385:Myt1
|
UTSW |
2 |
181,409,498 (GRCm39) |
splice site |
probably null |
|
R7411:Myt1
|
UTSW |
2 |
181,456,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R7593:Myt1
|
UTSW |
2 |
181,439,532 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7790:Myt1
|
UTSW |
2 |
181,439,390 (GRCm39) |
missense |
probably benign |
0.00 |
R8035:Myt1
|
UTSW |
2 |
181,437,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R8156:Myt1
|
UTSW |
2 |
181,464,554 (GRCm39) |
critical splice donor site |
probably null |
|
R8338:Myt1
|
UTSW |
2 |
181,443,655 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8419:Myt1
|
UTSW |
2 |
181,424,399 (GRCm39) |
nonsense |
probably null |
|
R8553:Myt1
|
UTSW |
2 |
181,439,344 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9071:Myt1
|
UTSW |
2 |
181,448,420 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9144:Myt1
|
UTSW |
2 |
181,467,805 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9290:Myt1
|
UTSW |
2 |
181,437,667 (GRCm39) |
missense |
probably benign |
0.31 |
R9462:Myt1
|
UTSW |
2 |
181,467,729 (GRCm39) |
nonsense |
probably null |
|
R9502:Myt1
|
UTSW |
2 |
181,461,991 (GRCm39) |
missense |
probably damaging |
0.98 |
R9668:Myt1
|
UTSW |
2 |
181,452,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R9700:Myt1
|
UTSW |
2 |
181,452,177 (GRCm39) |
missense |
probably damaging |
1.00 |
RF006:Myt1
|
UTSW |
2 |
181,439,566 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Myt1
|
UTSW |
2 |
181,449,395 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Myt1
|
UTSW |
2 |
181,438,955 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGCATCAATTTGTGATTATGTGC -3'
(R):5'- AACCATGGGTAAGCTGTGAG -3'
Sequencing Primer
(F):5'- ATCAATTTGTGATTATGTGCTCTCTG -3'
(R):5'- CACAGGGTTCTGGGCTGTCAG -3'
|
Posted On |
2018-05-21 |