Incidental Mutation 'R2323:Myt1'
| ID |
244795 |
| 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 |
040314-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2323 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181405125-181469590 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 181448350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 594
(A594S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081125]
[ENSMUST00000108756]
[ENSMUST00000108757]
[ENSMUST00000135744]
[ENSMUST00000183403]
|
| AlphaFold |
Q8CFC2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081125
AA Change: A674S
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000079900
Gene: ENSMUSG00000010505
AA Change: A674S
| 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: A632S
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104387
Gene: ENSMUSG00000010505
AA Change: A632S
| 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: A594S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104388
Gene: ENSMUSG00000010505
AA Change: A594S
| 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 damaging
Transcript: ENSMUST00000129843
AA Change: A335S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115697
Gene: ENSMUSG00000010505
AA Change: A335S
| 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 damaging
Transcript: ENSMUST00000129856
AA Change: A365S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122011
Gene: ENSMUSG00000010505
AA Change: A365S
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000142245
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183403
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
T |
2: 25,335,187 (GRCm39) |
M2008I |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,743,298 (GRCm39) |
S68P |
probably damaging |
Het |
| Albfm1 |
T |
A |
5: 90,732,711 (GRCm39) |
Y507* |
probably null |
Het |
| Anks3 |
T |
C |
16: 4,768,634 (GRCm39) |
|
probably null |
Het |
| Asap2 |
T |
C |
12: 21,253,969 (GRCm39) |
I160T |
probably damaging |
Het |
| Asb15 |
T |
A |
6: 24,556,600 (GRCm39) |
F32I |
probably benign |
Het |
| Catip |
A |
T |
1: 74,402,437 (GRCm39) |
M103L |
probably benign |
Het |
| Cela2a |
G |
C |
4: 141,553,390 (GRCm39) |
|
probably benign |
Het |
| Crebrf |
T |
C |
17: 26,982,581 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,819,064 (GRCm39) |
M450T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,267,518 (GRCm39) |
S5165P |
possibly damaging |
Het |
| Esrp2 |
T |
A |
8: 106,860,934 (GRCm39) |
D196V |
probably benign |
Het |
| Hmox2 |
A |
T |
16: 4,583,720 (GRCm39) |
K263* |
probably null |
Het |
| Ints10 |
A |
G |
8: 69,271,997 (GRCm39) |
H566R |
probably benign |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Liph |
A |
G |
16: 21,802,754 (GRCm39) |
V105A |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,286,040 (GRCm39) |
Y941* |
probably null |
Het |
| Myo7b |
T |
C |
18: 32,104,398 (GRCm39) |
E1450G |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 54,115,129 (GRCm39) |
Y666N |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,211,732 (GRCm39) |
K240E |
probably damaging |
Het |
| Or52h7 |
T |
C |
7: 104,213,826 (GRCm39) |
F133L |
probably benign |
Het |
| Rtkn2 |
A |
G |
10: 67,837,764 (GRCm39) |
I102M |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,316,101 (GRCm39) |
F58L |
probably damaging |
Het |
| Snrpc |
T |
G |
17: 28,066,948 (GRCm39) |
M91R |
unknown |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,212 (GRCm39) |
K205R |
possibly damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tnfrsf21 |
C |
A |
17: 43,396,420 (GRCm39) |
S568* |
probably null |
Het |
| Tulp1 |
C |
T |
17: 28,581,456 (GRCm39) |
G239D |
probably damaging |
Het |
| Vmn1r234 |
T |
C |
17: 21,449,965 (GRCm39) |
I293T |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,842 (GRCm39) |
K116E |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,081 (GRCm39) |
I193K |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,159,307 (GRCm39) |
S575T |
probably damaging |
Het |
| Zfp558 |
A |
T |
9: 18,380,573 (GRCm39) |
|
probably null |
Het |
| Zscan18 |
T |
C |
7: 12,509,386 (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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCTATGCCTTGACCCCTAG -3'
(R):5'- AGCTTCCAGTTGCTCTTGGC -3'
Sequencing Primer
(F):5'- ATGCCTTGACCCCTAGCTCTC -3'
(R):5'- GCACCAGCCATAGCCTTACTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation