Incidental Mutation 'R9071:Myt1'
ID |
689527 |
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 |
068893-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9071 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
181405125-181469590 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 181448420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 697
(D697V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081125]
[ENSMUST00000108756]
[ENSMUST00000108757]
[ENSMUST00000135744]
[ENSMUST00000183403]
|
AlphaFold |
Q8CFC2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081125
AA Change: D697V
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000079900 Gene: ENSMUSG00000010505 AA Change: D697V
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 |
possibly damaging
Transcript: ENSMUST00000108756
AA Change: D655V
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000104387 Gene: ENSMUSG00000010505 AA Change: D655V
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 |
possibly damaging
Transcript: ENSMUST00000108757
AA Change: D617V
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000104388 Gene: ENSMUSG00000010505 AA Change: D617V
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 |
|
SMART Domains |
Protein: ENSMUSP00000115697 Gene: ENSMUSG00000010505 AA Change: D358V
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
67 |
N/A |
INTRINSIC |
Pfam:zf-C2HC
|
147 |
174 |
6.2e-15 |
PFAM |
Pfam:zf-C2HC
|
191 |
219 |
9.2e-17 |
PFAM |
Pfam:MYT1
|
266 |
322 |
7.3e-29 |
PFAM |
Pfam:MYT1
|
321 |
497 |
7.2e-57 |
PFAM |
Pfam:zf-C2HC
|
505 |
533 |
9.6e-19 |
PFAM |
Pfam:zf-C2HC
|
554 |
582 |
4.4e-17 |
PFAM |
Pfam:zf-C2HC
|
607 |
635 |
1.8e-16 |
PFAM |
coiled coil region
|
654 |
726 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000122011 Gene: ENSMUSG00000010505 AA Change: D388V
Domain | Start | End | E-Value | Type |
Pfam:zf-C2HC
|
63 |
91 |
1.4e-16 |
PFAM |
low complexity region
|
147 |
152 |
N/A |
INTRINSIC |
Pfam:zf-C2HC
|
177 |
204 |
4.6e-15 |
PFAM |
Pfam:zf-C2HC
|
221 |
249 |
6.7e-17 |
PFAM |
Pfam:MYT1
|
296 |
352 |
5.2e-29 |
PFAM |
Pfam:MYT1
|
351 |
527 |
4.5e-57 |
PFAM |
Pfam:zf-C2HC
|
535 |
556 |
1.4e-13 |
PFAM |
Pfam:zf-C2HC
|
556 |
584 |
3.5e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135744
|
SMART Domains |
Protein: ENSMUSP00000121394 Gene: ENSMUSG00000010505
Domain | Start | End | E-Value | Type |
Pfam:zf-C2HC
|
40 |
70 |
4.8e-21 |
PFAM |
Pfam:zf-C2HC
|
89 |
119 |
1.1e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183403
|
Meta Mutation Damage Score |
0.2897 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (52/52) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
G |
T |
7: 41,274,783 (GRCm39) |
R162L |
probably benign |
Het |
Alpi |
A |
G |
1: 87,026,584 (GRCm39) |
V469A |
probably damaging |
Het |
Amotl2 |
G |
T |
9: 102,595,892 (GRCm39) |
|
probably benign |
Het |
Ano3 |
T |
A |
2: 110,625,418 (GRCm39) |
|
probably null |
Het |
Atg16l1 |
G |
T |
1: 87,683,907 (GRCm39) |
|
probably benign |
Het |
Atg2b |
C |
A |
12: 105,625,099 (GRCm39) |
E626* |
probably null |
Het |
B3galt9 |
T |
C |
2: 34,728,435 (GRCm39) |
V78A |
probably benign |
Het |
Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
Ccdc162 |
G |
A |
10: 41,457,174 (GRCm39) |
Q1588* |
probably null |
Het |
Cd3d |
A |
T |
9: 44,896,340 (GRCm39) |
H43L |
probably benign |
Het |
Cenpk |
C |
T |
13: 104,378,870 (GRCm39) |
Q164* |
probably null |
Het |
Clybl |
C |
A |
14: 122,608,697 (GRCm39) |
D96E |
probably benign |
Het |
Cog1 |
T |
C |
11: 113,546,939 (GRCm39) |
V511A |
probably damaging |
Het |
Crhr1 |
T |
A |
11: 104,064,133 (GRCm39) |
I282N |
probably damaging |
Het |
Crybg2 |
A |
G |
4: 133,818,542 (GRCm39) |
N1433D |
probably damaging |
Het |
Cspp1 |
A |
T |
1: 10,159,121 (GRCm39) |
I516F |
possibly damaging |
Het |
Cul9 |
T |
C |
17: 46,837,379 (GRCm39) |
T1030A |
probably benign |
Het |
Cyp2d10 |
T |
C |
15: 82,288,361 (GRCm39) |
T313A |
probably damaging |
Het |
Ddx11 |
T |
A |
17: 66,450,736 (GRCm39) |
N549K |
probably damaging |
Het |
Ddx41 |
A |
G |
13: 55,680,219 (GRCm39) |
V391A |
probably damaging |
Het |
Eif3a |
T |
C |
19: 60,751,634 (GRCm39) |
D1227G |
unknown |
Het |
Fam83f |
T |
C |
15: 80,576,206 (GRCm39) |
Y286H |
probably damaging |
Het |
Fasn |
T |
C |
11: 120,708,324 (GRCm39) |
D647G |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,037,598 (GRCm39) |
V3750A |
probably benign |
Het |
Golga2 |
T |
C |
2: 32,178,364 (GRCm39) |
S14P |
probably damaging |
Het |
Hgsnat |
A |
G |
8: 26,436,302 (GRCm39) |
V584A |
possibly damaging |
Het |
Ifi207 |
A |
T |
1: 173,557,764 (GRCm39) |
F325I |
unknown |
Het |
Igfals |
A |
T |
17: 25,099,670 (GRCm39) |
I254F |
probably damaging |
Het |
Matr3 |
T |
C |
18: 35,705,803 (GRCm39) |
Y243H |
possibly damaging |
Het |
Mki67 |
G |
C |
7: 135,301,205 (GRCm39) |
D1276E |
probably benign |
Het |
Moap1 |
T |
A |
12: 102,709,364 (GRCm39) |
K62* |
probably null |
Het |
Msto1 |
C |
A |
3: 88,812,414 (GRCm39) |
|
probably benign |
Het |
Nampt |
T |
A |
12: 32,892,781 (GRCm39) |
V356E |
probably damaging |
Het |
Nell2 |
T |
A |
15: 95,244,682 (GRCm39) |
K472* |
probably null |
Het |
Nfe2l3 |
A |
C |
6: 51,434,243 (GRCm39) |
S268R |
probably benign |
Het |
Or8b43 |
T |
C |
9: 38,361,032 (GRCm39) |
I288T |
possibly damaging |
Het |
Osbpl10 |
G |
T |
9: 114,890,908 (GRCm39) |
V99L |
probably benign |
Het |
Plod2 |
A |
G |
9: 92,485,048 (GRCm39) |
I537M |
probably benign |
Het |
Prdm4 |
A |
G |
10: 85,729,076 (GRCm39) |
L770P |
probably benign |
Het |
Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
Scaper |
T |
C |
9: 55,771,803 (GRCm39) |
D371G |
probably benign |
Het |
Sema3e |
A |
G |
5: 14,282,154 (GRCm39) |
K430R |
probably benign |
Het |
Sez6l |
A |
T |
5: 112,573,603 (GRCm39) |
|
probably benign |
Het |
Slco1a5 |
A |
T |
6: 142,196,052 (GRCm39) |
I317N |
possibly damaging |
Het |
Spata4 |
T |
G |
8: 55,055,742 (GRCm39) |
F211C |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,433,982 (GRCm39) |
E929G |
probably benign |
Het |
Sult1e1 |
A |
C |
5: 87,735,681 (GRCm39) |
|
probably benign |
Het |
Tas2r125 |
A |
T |
6: 132,887,400 (GRCm39) |
N263Y |
probably benign |
Het |
Ugt3a1 |
T |
A |
15: 9,370,224 (GRCm39) |
L456* |
probably null |
Het |
Wdr20rt |
G |
A |
12: 65,274,222 (GRCm39) |
V562I |
probably benign |
Het |
Zc3h7b |
T |
C |
15: 81,677,964 (GRCm39) |
*983Q |
probably null |
Het |
Zfp28 |
T |
A |
7: 6,397,544 (GRCm39) |
C660S |
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 |
|
R6457:Myt1
|
UTSW |
2 |
181,405,218 (GRCm39) |
splice site |
probably null |
|
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 |
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'- CCAGGTGCAGTCTAATCTTCC -3'
(R):5'- TGGGTTATCTGAGCCATTACC -3'
Sequencing Primer
(F):5'- TGCAGTCTAATCTTCCAGTGG -3'
(R):5'- AACTCCAGTTCCAGGGTATCTGATG -3'
|
Posted On |
2021-11-19 |