Incidental Mutation 'IGL03064:Myt1'
ID |
409587 |
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 # |
IGL03064
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
181405125-181469590 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 181439594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Serine
at position 372
(Y372S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081125]
[ENSMUST00000108756]
[ENSMUST00000108757]
[ENSMUST00000183403]
|
AlphaFold |
Q8CFC2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081125
AA Change: Y414S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000079900 Gene: ENSMUSG00000010505 AA Change: Y414S
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
AA Change: Y372S
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000104387 Gene: ENSMUSG00000010505 AA Change: Y372S
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
AA Change: Y372S
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000104388 Gene: ENSMUSG00000010505 AA Change: Y372S
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: Y75S
|
SMART Domains |
Protein: ENSMUSP00000115697 Gene: ENSMUSG00000010505 AA Change: Y75S
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 |
probably benign
Transcript: ENSMUST00000129856
|
SMART Domains |
Protein: ENSMUSP00000122011 Gene: ENSMUSG00000010505
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 |
noncoding transcript
Transcript: ENSMUST00000142245
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156190
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183403
|
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 |
Acsm2 |
A |
G |
7: 119,174,864 (GRCm39) |
T210A |
probably damaging |
Het |
Adgb |
T |
A |
10: 10,276,316 (GRCm39) |
T351S |
probably benign |
Het |
Akap9 |
A |
G |
5: 4,018,755 (GRCm39) |
H1112R |
probably damaging |
Het |
Angptl6 |
A |
T |
9: 20,786,939 (GRCm39) |
Y261* |
probably null |
Het |
Arhgef10l |
A |
C |
4: 140,306,590 (GRCm39) |
F395V |
probably damaging |
Het |
Bub1 |
T |
C |
2: 127,659,373 (GRCm39) |
N328S |
probably benign |
Het |
Cacna1s |
A |
G |
1: 136,039,731 (GRCm39) |
N1186D |
probably damaging |
Het |
Cacna2d2 |
C |
A |
9: 107,386,474 (GRCm39) |
F200L |
probably damaging |
Het |
Calca |
G |
A |
7: 114,232,919 (GRCm39) |
S110L |
probably benign |
Het |
Ccdc120 |
G |
A |
X: 7,601,601 (GRCm39) |
P263S |
probably benign |
Het |
Dcaf8l |
A |
G |
X: 88,448,857 (GRCm39) |
V424A |
possibly damaging |
Het |
Dgki |
C |
A |
6: 37,126,599 (GRCm39) |
|
probably benign |
Het |
Ear1 |
G |
T |
14: 44,056,502 (GRCm39) |
S122* |
probably null |
Het |
F5 |
A |
T |
1: 164,023,163 (GRCm39) |
T1574S |
probably benign |
Het |
Fam227b |
T |
C |
2: 125,968,762 (GRCm39) |
|
probably null |
Het |
Gm20521 |
T |
A |
14: 55,134,680 (GRCm39) |
S301T |
possibly damaging |
Het |
Hsd17b7 |
A |
T |
1: 169,787,287 (GRCm39) |
I239N |
probably benign |
Het |
Itih1 |
C |
A |
14: 30,663,514 (GRCm39) |
E163D |
probably benign |
Het |
Lama1 |
A |
T |
17: 68,086,099 (GRCm39) |
Y1446F |
probably benign |
Het |
Lama3 |
C |
T |
18: 12,572,406 (GRCm39) |
T537M |
possibly damaging |
Het |
Lars1 |
G |
T |
18: 42,354,636 (GRCm39) |
Y770* |
probably null |
Het |
Lrp2 |
A |
T |
2: 69,313,477 (GRCm39) |
V2418E |
probably damaging |
Het |
Maip1 |
A |
G |
1: 57,446,359 (GRCm39) |
E143G |
probably damaging |
Het |
Mast4 |
G |
T |
13: 102,897,472 (GRCm39) |
S739* |
probably null |
Het |
Mctp1 |
C |
T |
13: 76,949,632 (GRCm39) |
Q555* |
probably null |
Het |
Med14 |
A |
T |
X: 12,613,742 (GRCm39) |
D291E |
probably benign |
Het |
Mgat2 |
T |
A |
12: 69,231,777 (GRCm39) |
V117D |
probably damaging |
Het |
Mllt1 |
A |
T |
17: 57,207,094 (GRCm39) |
M250K |
probably benign |
Het |
Naa16 |
T |
A |
14: 79,577,068 (GRCm39) |
Q735H |
probably damaging |
Het |
Ncf4 |
A |
G |
15: 78,135,102 (GRCm39) |
Y53C |
probably damaging |
Het |
Nlrp4a |
A |
T |
7: 26,148,934 (GRCm39) |
K180N |
probably benign |
Het |
Nova1 |
A |
G |
12: 46,746,861 (GRCm39) |
V472A |
probably damaging |
Het |
Nup153 |
T |
C |
13: 46,847,315 (GRCm39) |
T705A |
probably benign |
Het |
Odf2 |
T |
A |
2: 29,791,091 (GRCm39) |
N79K |
probably benign |
Het |
Or4f7 |
A |
G |
2: 111,644,768 (GRCm39) |
I101T |
possibly damaging |
Het |
Pard3b |
G |
A |
1: 62,237,930 (GRCm39) |
|
probably benign |
Het |
Pde8b |
G |
A |
13: 95,182,906 (GRCm39) |
T388I |
probably damaging |
Het |
Phactr2 |
A |
G |
10: 13,264,457 (GRCm39) |
|
probably benign |
Het |
Phf12 |
T |
C |
11: 77,874,186 (GRCm39) |
S17P |
probably damaging |
Het |
Psmg2 |
T |
A |
18: 67,779,102 (GRCm39) |
L90* |
probably null |
Het |
Ryr2 |
T |
C |
13: 11,658,788 (GRCm39) |
|
probably null |
Het |
Sec23b |
T |
C |
2: 144,423,952 (GRCm39) |
F534L |
probably benign |
Het |
Sin3b |
A |
G |
8: 73,483,686 (GRCm39) |
|
probably benign |
Het |
Slc30a5 |
A |
T |
13: 100,947,818 (GRCm39) |
L463Q |
probably damaging |
Het |
Slc35g3 |
T |
C |
11: 69,651,895 (GRCm39) |
H52R |
possibly damaging |
Het |
Slc6a3 |
G |
T |
13: 73,719,585 (GRCm39) |
S538I |
probably damaging |
Het |
Socs2 |
G |
T |
10: 95,248,713 (GRCm39) |
C133* |
probably null |
Het |
Srebf2 |
G |
A |
15: 82,076,423 (GRCm39) |
R691H |
probably benign |
Het |
Tlr11 |
C |
A |
14: 50,598,557 (GRCm39) |
P181Q |
probably damaging |
Het |
Tlr7 |
T |
A |
X: 166,089,203 (GRCm39) |
Q761L |
possibly damaging |
Het |
Tmem120b |
T |
A |
5: 123,240,336 (GRCm39) |
Y90N |
possibly damaging |
Het |
Tpcn1 |
T |
C |
5: 120,675,631 (GRCm39) |
I778V |
possibly damaging |
Het |
Ttll8 |
T |
C |
15: 88,803,797 (GRCm39) |
T385A |
probably benign |
Het |
Vmn1r223 |
G |
A |
13: 23,434,153 (GRCm39) |
R249H |
probably damaging |
Het |
Vmn2r53 |
A |
T |
7: 12,334,937 (GRCm39) |
I241N |
possibly damaging |
Het |
Wdfy3 |
T |
C |
5: 102,083,863 (GRCm39) |
R808G |
probably damaging |
Het |
Zfyve26 |
T |
A |
12: 79,308,565 (GRCm39) |
S231C |
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 |
|
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 |
2016-08-02 |