Incidental Mutation 'IGL02499:Myt1'
| ID |
295980 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Myt1
|
| Ensembl Gene |
ENSMUSG00000010505 |
| Gene Name |
myelin transcription factor 1 |
| Synonyms |
NZF-2b, NZF-2a, Nztf2, Nzf2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02499
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181405125-181469590 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 181467342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081125]
[ENSMUST00000108756]
[ENSMUST00000108757]
|
| AlphaFold |
Q8CFC2 |
| Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000129843
|
| SMART Domains |
Protein: ENSMUSP00000115697
Gene: ENSMUSG00000010505
| 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 |
noncoding transcript
Transcript: ENSMUST00000130079
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148766
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,776,807 (GRCm39) |
N835S |
possibly damaging |
Het |
| Abr |
A |
T |
11: 76,399,916 (GRCm39) |
F27Y |
probably benign |
Het |
| Adam5 |
C |
T |
8: 25,271,581 (GRCm39) |
|
probably null |
Het |
| Alas1 |
A |
T |
9: 106,118,520 (GRCm39) |
Y201N |
probably damaging |
Het |
| Aldoart1 |
T |
A |
4: 72,770,476 (GRCm39) |
R111W |
possibly damaging |
Het |
| Arhgef25 |
A |
G |
10: 127,021,460 (GRCm39) |
Y253H |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,090,291 (GRCm39) |
A1076E |
possibly damaging |
Het |
| Baz2b |
C |
T |
2: 59,731,840 (GRCm39) |
R2066K |
possibly damaging |
Het |
| Bdh1 |
G |
T |
16: 31,256,866 (GRCm39) |
R5L |
possibly damaging |
Het |
| Brap |
A |
G |
5: 121,817,934 (GRCm39) |
Y358C |
probably damaging |
Het |
| Cad |
T |
C |
5: 31,226,948 (GRCm39) |
V1235A |
probably damaging |
Het |
| Cadps |
G |
T |
14: 12,822,725 (GRCm38) |
S5* |
probably null |
Het |
| Cd200r2 |
A |
G |
16: 44,734,948 (GRCm39) |
T220A |
possibly damaging |
Het |
| Cd209e |
T |
A |
8: 3,904,238 (GRCm39) |
M6L |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,220,958 (GRCm39) |
T1265K |
probably damaging |
Het |
| Clec16a |
T |
C |
16: 10,512,540 (GRCm39) |
S828P |
probably benign |
Het |
| Dao |
A |
G |
5: 114,152,002 (GRCm39) |
K107E |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 72,998,210 (GRCm39) |
M4071L |
probably benign |
Het |
| Dvl1 |
T |
C |
4: 155,939,237 (GRCm39) |
I250T |
probably benign |
Het |
| Dzip3 |
A |
C |
16: 48,754,213 (GRCm39) |
L945V |
probably damaging |
Het |
| Gm128 |
A |
G |
3: 95,147,992 (GRCm39) |
S101P |
possibly damaging |
Het |
| Gphn |
T |
C |
12: 78,539,074 (GRCm39) |
L240P |
probably benign |
Het |
| Hecw2 |
A |
G |
1: 53,965,647 (GRCm39) |
I393T |
probably benign |
Het |
| Iigp1c |
T |
C |
18: 60,378,710 (GRCm39) |
S82P |
probably damaging |
Het |
| Kat14 |
A |
G |
2: 144,235,751 (GRCm39) |
E161G |
probably benign |
Het |
| Kcne3 |
A |
C |
7: 99,833,610 (GRCm39) |
I76L |
probably benign |
Het |
| Kcnk18 |
A |
T |
19: 59,223,614 (GRCm39) |
Q253L |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,741,806 (GRCm39) |
|
probably benign |
Het |
| Lrrc73 |
A |
G |
17: 46,567,915 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,296,056 (GRCm39) |
S2993P |
possibly damaging |
Het |
| Mto1 |
T |
A |
9: 78,368,794 (GRCm39) |
|
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,722,669 (GRCm39) |
|
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,566,885 (GRCm39) |
T587A |
probably benign |
Het |
| Nemf |
T |
A |
12: 69,368,903 (GRCm39) |
I771F |
probably damaging |
Het |
| Or10k2 |
T |
A |
8: 84,267,812 (GRCm39) |
V13D |
possibly damaging |
Het |
| Or5k16 |
A |
G |
16: 58,736,614 (GRCm39) |
L130P |
probably damaging |
Het |
| Or8c10 |
A |
T |
9: 38,278,977 (GRCm39) |
Y45F |
probably benign |
Het |
| Papln |
T |
C |
12: 83,827,445 (GRCm39) |
V761A |
probably benign |
Het |
| Pask |
A |
T |
1: 93,248,817 (GRCm39) |
L861* |
probably null |
Het |
| Pcdh18 |
T |
A |
3: 49,707,896 (GRCm39) |
R859S |
probably benign |
Het |
| Ppip5k1 |
C |
T |
2: 121,162,034 (GRCm39) |
|
probably null |
Het |
| Ptprs |
A |
G |
17: 56,744,884 (GRCm39) |
V284A |
probably damaging |
Het |
| Rasgrp4 |
A |
T |
7: 28,850,928 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,419,271 (GRCm39) |
I614V |
probably benign |
Het |
| Sec23ip |
T |
C |
7: 128,378,640 (GRCm39) |
I818T |
probably damaging |
Het |
| Skint11 |
G |
A |
4: 114,051,801 (GRCm39) |
A50T |
probably benign |
Het |
| Sqor |
T |
A |
2: 122,650,007 (GRCm39) |
M417K |
possibly damaging |
Het |
| Tbc1d24 |
T |
C |
17: 24,426,593 (GRCm39) |
|
probably null |
Het |
| Tbc1d8b |
A |
T |
X: 138,613,173 (GRCm39) |
D333V |
probably damaging |
Het |
| Tbx2 |
T |
C |
11: 85,731,739 (GRCm39) |
S679P |
possibly damaging |
Het |
| Thbs2 |
A |
G |
17: 14,904,328 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,689,795 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,493,568 (GRCm39) |
I126N |
probably damaging |
Het |
| Zbtb10 |
G |
T |
3: 9,316,800 (GRCm39) |
G204V |
probably damaging |
Het |
| Zfp426 |
A |
C |
9: 20,384,414 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation