Incidental Mutation 'IGL00816:Myt1'
| ID |
13633 |
| 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 # |
IGL00816
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181405125-181469590 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 181449308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 663
(D663G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081125]
[ENSMUST00000108756]
[ENSMUST00000108757]
[ENSMUST00000135744]
[ENSMUST00000183403]
|
| AlphaFold |
Q8CFC2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081125
AA Change: D743G
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000079900
Gene: ENSMUSG00000010505
AA Change: D743G
| 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: D701G
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104387
Gene: ENSMUSG00000010505
AA Change: D701G
| 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: D663G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104388
Gene: ENSMUSG00000010505
AA Change: D663G
| 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: D404G
|
| SMART Domains |
Protein: ENSMUSP00000115697
Gene: ENSMUSG00000010505
AA Change: D404G
| 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: D434G
|
| SMART Domains |
Protein: ENSMUSP00000122011
Gene: ENSMUSG00000010505
AA Change: D434G
| 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 |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,545,322 (GRCm39) |
D5654E |
probably benign |
Het |
| Alg6 |
A |
G |
4: 99,630,598 (GRCm39) |
S146G |
probably null |
Het |
| Anks1 |
T |
C |
17: 28,278,367 (GRCm39) |
|
probably null |
Het |
| Bcor |
T |
C |
X: 11,904,059 (GRCm39) |
I1662V |
probably damaging |
Het |
| Bzw1 |
T |
C |
1: 58,438,213 (GRCm39) |
F98L |
probably damaging |
Het |
| Cdc14b |
A |
G |
13: 64,353,217 (GRCm39) |
V453A |
probably benign |
Het |
| Copg1 |
G |
T |
6: 87,870,880 (GRCm39) |
A228S |
possibly damaging |
Het |
| D1Pas1 |
A |
G |
1: 186,701,609 (GRCm39) |
I513V |
possibly damaging |
Het |
| Efemp1 |
G |
A |
11: 28,876,223 (GRCm39) |
V463M |
probably benign |
Het |
| Ep400 |
T |
A |
5: 110,883,356 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fgd3 |
A |
G |
13: 49,418,262 (GRCm39) |
|
probably benign |
Het |
| Furin |
C |
A |
7: 80,042,315 (GRCm39) |
G427W |
probably damaging |
Het |
| Glycam1 |
T |
G |
15: 103,472,659 (GRCm39) |
D25A |
probably damaging |
Het |
| Gpr119 |
A |
G |
X: 47,763,047 (GRCm39) |
L30P |
probably damaging |
Het |
| Gria1 |
T |
A |
11: 57,208,568 (GRCm39) |
M752K |
possibly damaging |
Het |
| Mcph1 |
C |
T |
8: 18,682,413 (GRCm39) |
P517S |
possibly damaging |
Het |
| Mug1 |
T |
A |
6: 121,859,597 (GRCm39) |
Y1199N |
probably damaging |
Het |
| Ppp1r1c |
A |
T |
2: 79,540,241 (GRCm39) |
|
probably null |
Het |
| Rab1a |
C |
T |
11: 20,174,727 (GRCm39) |
T100M |
possibly damaging |
Het |
| Rfx6 |
A |
G |
10: 51,554,501 (GRCm39) |
K114R |
probably benign |
Het |
| Rmdn1 |
T |
C |
4: 19,595,119 (GRCm39) |
V177A |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,088,375 (GRCm39) |
L168V |
probably damaging |
Het |
| Slc25a10 |
A |
T |
11: 120,385,976 (GRCm39) |
|
probably benign |
Het |
| Slc38a7 |
A |
T |
8: 96,570,748 (GRCm39) |
I252N |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Taar8c |
A |
T |
10: 23,977,173 (GRCm39) |
I213N |
probably damaging |
Het |
| Tagln3 |
A |
T |
16: 45,544,556 (GRCm39) |
C38* |
probably null |
Het |
| Tmcc2 |
C |
A |
1: 132,308,436 (GRCm39) |
A153S |
probably benign |
Het |
| Tuft1 |
A |
T |
3: 94,523,138 (GRCm39) |
I291N |
probably damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,150,451 (GRCm39) |
M198L |
possibly damaging |
Het |
| Vps13d |
T |
A |
4: 144,882,564 (GRCm39) |
M1004L |
probably benign |
Het |
| Wfdc3 |
T |
C |
2: 164,584,945 (GRCm39) |
|
probably benign |
Het |
| Wfikkn2 |
G |
A |
11: 94,128,921 (GRCm39) |
Q407* |
probably null |
Het |
| Zfp106 |
T |
C |
2: 120,357,329 (GRCm39) |
I1189V |
probably benign |
Het |
| Zic2 |
T |
A |
14: 122,715,971 (GRCm39) |
C364* |
probably null |
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 |
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation