Incidental Mutation 'IGL01926:Myt1'
| ID |
180305 |
| 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 # |
IGL01926
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181405125-181469590 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 181463790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1032
(L1032P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081125]
[ENSMUST00000108756]
[ENSMUST00000108757]
[ENSMUST00000135744]
|
| AlphaFold |
Q8CFC2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081125
AA Change: L1032P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000079900
Gene: ENSMUSG00000010505
AA Change: L1032P
| 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: L990P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000104387
Gene: ENSMUSG00000010505
AA Change: L990P
| 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: L952P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000104388
Gene: ENSMUSG00000010505
AA Change: L952P
| 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: L649P
|
| SMART Domains |
Protein: ENSMUSP00000115697
Gene: ENSMUSG00000010505
AA Change: L649P
| 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 |
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: 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
C |
T |
11: 110,026,155 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
C |
T |
7: 144,164,612 (GRCm39) |
V671M |
possibly damaging |
Het |
| Atf7ip2 |
G |
T |
16: 10,059,749 (GRCm39) |
D430Y |
probably damaging |
Het |
| Atp7b |
A |
T |
8: 22,501,797 (GRCm39) |
D740E |
probably damaging |
Het |
| Bbs1 |
A |
C |
19: 4,952,891 (GRCm39) |
S191A |
probably benign |
Het |
| Capn5 |
C |
T |
7: 97,777,679 (GRCm39) |
|
probably null |
Het |
| Cyp2c40 |
A |
G |
19: 39,791,099 (GRCm39) |
I244T |
probably benign |
Het |
| Dsg1a |
G |
T |
18: 20,466,641 (GRCm39) |
D504Y |
possibly damaging |
Het |
| Eif3a |
T |
C |
19: 60,758,399 (GRCm39) |
D793G |
unknown |
Het |
| Exoc4 |
C |
A |
6: 33,839,077 (GRCm39) |
D704E |
probably damaging |
Het |
| Fmo5 |
A |
C |
3: 97,544,797 (GRCm39) |
T109P |
probably damaging |
Het |
| Ggt5 |
A |
G |
10: 75,439,935 (GRCm39) |
I179V |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Irs1 |
G |
T |
1: 82,267,680 (GRCm39) |
R179S |
probably damaging |
Het |
| Jmy |
A |
T |
13: 93,596,294 (GRCm39) |
V445E |
probably damaging |
Het |
| Jup |
C |
A |
11: 100,274,412 (GRCm39) |
V93F |
probably benign |
Het |
| Krt20 |
T |
C |
11: 99,328,652 (GRCm39) |
Y91C |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,013,063 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
C |
T |
2: 90,965,752 (GRCm39) |
T1188I |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,436,704 (GRCm39) |
N606K |
probably damaging |
Het |
| Nfrkb |
A |
T |
9: 31,325,475 (GRCm39) |
M973L |
probably benign |
Het |
| Or5aq6 |
C |
T |
2: 86,923,318 (GRCm39) |
C141Y |
probably damaging |
Het |
| Or5b120 |
A |
T |
19: 13,480,105 (GRCm39) |
T133S |
possibly damaging |
Het |
| Parp8 |
T |
C |
13: 116,998,838 (GRCm39) |
|
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,471,642 (GRCm39) |
M131K |
probably benign |
Het |
| Pomt1 |
T |
A |
2: 32,133,484 (GRCm39) |
S207T |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,314,306 (GRCm39) |
M1K |
probably null |
Het |
| Prr15 |
A |
G |
6: 54,306,490 (GRCm39) |
K83E |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,504,123 (GRCm39) |
N5S |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,357,485 (GRCm39) |
H169L |
probably benign |
Het |
| Slc24a5 |
A |
G |
2: 124,910,823 (GRCm39) |
I85V |
probably benign |
Het |
| Tmc2 |
T |
C |
2: 130,102,160 (GRCm39) |
I775T |
possibly damaging |
Het |
| Trnau1ap |
A |
T |
4: 132,046,873 (GRCm39) |
F141L |
probably benign |
Het |
| Zscan4d |
A |
G |
7: 10,898,921 (GRCm39) |
C119R |
probably damaging |
Het |
| Zswim9 |
A |
T |
7: 12,994,248 (GRCm39) |
V636D |
possibly 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 |
|
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 |
2014-05-07 |
Incidental Mutation