Incidental Mutation 'R6752:Myt1'
ID |
530817 |
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 |
044869-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6752 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
181405125-181469590 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 181442875 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 455
(V455F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081125]
[ENSMUST00000108756]
[ENSMUST00000108757]
[ENSMUST00000183403]
|
AlphaFold |
Q8CFC2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081125
AA Change: V497F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079900 Gene: ENSMUSG00000010505 AA Change: V497F
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 damaging
Transcript: ENSMUST00000108756
AA Change: V455F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104387 Gene: ENSMUSG00000010505 AA Change: V455F
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 damaging
Transcript: ENSMUST00000108757
AA Change: V455F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104388 Gene: ENSMUSG00000010505 AA Change: V455F
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 |
unknown
Transcript: ENSMUST00000129843
AA Change: V158F
|
SMART Domains |
Protein: ENSMUSP00000115697 Gene: ENSMUSG00000010505 AA Change: V158F
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 |
unknown
Transcript: ENSMUST00000129856
AA Change: V188F
|
SMART Domains |
Protein: ENSMUSP00000122011 Gene: ENSMUSG00000010505 AA Change: V188F
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 |
noncoding transcript
Transcript: ENSMUST00000130079
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183403
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142245
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (55/56) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
C |
11: 84,086,309 (GRCm39) |
L45S |
probably benign |
Het |
Agbl2 |
G |
A |
2: 90,633,418 (GRCm39) |
C518Y |
probably damaging |
Het |
Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
Aox1 |
T |
C |
1: 58,086,398 (GRCm39) |
I101T |
probably benign |
Het |
Arhgap23 |
T |
C |
11: 97,343,074 (GRCm39) |
F241S |
probably damaging |
Het |
Asmt |
A |
G |
X: 169,110,096 (GRCm39) |
M202V |
probably benign |
Het |
Atp6v0a2 |
A |
G |
5: 124,779,452 (GRCm39) |
E189G |
probably damaging |
Het |
Birc2 |
G |
A |
9: 7,857,345 (GRCm39) |
A376V |
probably benign |
Het |
Ccbe1 |
C |
T |
18: 66,209,378 (GRCm39) |
|
probably null |
Het |
Chst2 |
C |
A |
9: 95,286,802 (GRCm39) |
E515* |
probably null |
Het |
Col12a1 |
A |
T |
9: 79,540,706 (GRCm39) |
N2426K |
possibly damaging |
Het |
Dmrt2 |
A |
G |
19: 25,655,706 (GRCm39) |
N435S |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,421,017 (GRCm39) |
K123E |
probably benign |
Het |
Dock4 |
T |
A |
12: 40,870,616 (GRCm39) |
L1452Q |
probably damaging |
Het |
Galnt7 |
G |
A |
8: 58,105,985 (GRCm39) |
R10C |
probably damaging |
Het |
Gm16506 |
A |
G |
14: 43,964,876 (GRCm39) |
I22T |
unknown |
Het |
H2-Q6 |
A |
G |
17: 35,647,103 (GRCm39) |
T292A |
probably damaging |
Het |
Ifne |
A |
G |
4: 88,798,319 (GRCm39) |
M33T |
probably benign |
Het |
Igf2r |
G |
A |
17: 12,933,831 (GRCm39) |
R808W |
probably damaging |
Het |
Igfbp5 |
T |
C |
1: 72,903,068 (GRCm39) |
E169G |
probably damaging |
Het |
Inppl1 |
G |
A |
7: 101,481,749 (GRCm39) |
R198* |
probably null |
Het |
Irgm1 |
T |
C |
11: 48,757,290 (GRCm39) |
T174A |
probably damaging |
Het |
Itih3 |
C |
T |
14: 30,645,446 (GRCm39) |
G21S |
possibly damaging |
Het |
Klra4 |
G |
T |
6: 130,038,991 (GRCm39) |
Q134K |
probably benign |
Het |
Mfsd1 |
T |
A |
3: 67,503,936 (GRCm39) |
Y309* |
probably null |
Het |
Mrps10 |
A |
G |
17: 47,688,740 (GRCm39) |
N162S |
probably damaging |
Het |
Mtmr14 |
T |
C |
6: 113,217,358 (GRCm39) |
F90S |
probably damaging |
Het |
Myh15 |
A |
G |
16: 49,003,290 (GRCm39) |
D1783G |
probably damaging |
Het |
Myo3b |
A |
G |
2: 70,119,856 (GRCm39) |
E972G |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,944,640 (GRCm39) |
S575T |
probably benign |
Het |
Nbea |
T |
A |
3: 55,875,730 (GRCm39) |
T1647S |
probably benign |
Het |
Ntn4 |
A |
G |
10: 93,570,037 (GRCm39) |
N466S |
probably benign |
Het |
Or10ag52 |
A |
G |
2: 87,043,388 (GRCm39) |
M51V |
probably benign |
Het |
Or5b114-ps1 |
T |
A |
19: 13,352,890 (GRCm39) |
L188H |
unknown |
Het |
Or5h27 |
T |
A |
16: 59,006,694 (GRCm39) |
N51Y |
probably damaging |
Het |
Pcdhgb4 |
T |
A |
18: 37,853,704 (GRCm39) |
I33N |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Pom121l2 |
T |
G |
13: 22,165,939 (GRCm39) |
F70C |
probably damaging |
Het |
Psmb5 |
T |
C |
14: 54,854,212 (GRCm39) |
T89A |
probably benign |
Het |
Rab11fip2 |
T |
C |
19: 59,895,475 (GRCm39) |
D471G |
probably damaging |
Het |
Rnh1 |
A |
G |
7: 140,743,354 (GRCm39) |
V207A |
probably benign |
Het |
Sh3tc2 |
C |
A |
18: 62,094,108 (GRCm39) |
T49N |
probably benign |
Het |
Skint4 |
T |
C |
4: 111,977,060 (GRCm39) |
M158T |
possibly damaging |
Het |
Skint7 |
T |
A |
4: 111,837,463 (GRCm39) |
H80Q |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,762,539 (GRCm39) |
|
probably benign |
Het |
Sostdc1 |
T |
C |
12: 36,364,411 (GRCm39) |
V40A |
probably benign |
Het |
Sptlc1 |
C |
A |
13: 53,489,394 (GRCm39) |
K437N |
possibly damaging |
Het |
Stat2 |
T |
C |
10: 128,119,622 (GRCm39) |
F503L |
probably damaging |
Het |
Syt16 |
A |
T |
12: 74,275,987 (GRCm39) |
|
probably null |
Het |
Tspyl1 |
T |
C |
10: 34,158,583 (GRCm39) |
S103P |
probably benign |
Het |
Ube4a |
A |
T |
9: 44,837,246 (GRCm39) |
S1053R |
probably damaging |
Het |
Vipr1 |
A |
G |
9: 121,482,959 (GRCm39) |
N58S |
probably damaging |
Het |
Zfp184 |
C |
A |
13: 22,143,578 (GRCm39) |
A428E |
probably damaging |
Het |
Zfp292 |
A |
C |
4: 34,808,593 (GRCm39) |
F1484V |
possibly damaging |
Het |
Zfp599 |
G |
A |
9: 22,160,840 (GRCm39) |
H442Y |
probably damaging |
Het |
Zfp944 |
G |
A |
17: 22,558,500 (GRCm39) |
T249I |
probably benign |
Het |
Zkscan14 |
T |
A |
5: 145,132,316 (GRCm39) |
H405L |
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 |
|
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'- GGAGTTGCTTCACTTTCAGC -3'
(R):5'- GTGGACACTTCAAAAGACTGTC -3'
Sequencing Primer
(F):5'- GGAGTTGCTTCACTTTCAGCTTCTG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
|
Posted On |
2018-08-01 |