Incidental Mutation 'R7368:Myt1'
| ID |
571913 |
| 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 |
045452-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7368 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181405125-181469590 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 181424384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 26
(K26E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081125]
[ENSMUST00000108756]
[ENSMUST00000108757]
[ENSMUST00000183403]
|
| AlphaFold |
Q8CFC2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081125
AA Change: K26E
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000079900
Gene: ENSMUSG00000010505
AA Change: K26E
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000122011
Gene: ENSMUSG00000010505
AA Change: K17E
| 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 |
probably benign
Transcript: ENSMUST00000183403
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (61/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
A |
T |
12: 84,659,639 (GRCm39) |
F153I |
possibly damaging |
Het |
| Adcy1 |
G |
A |
11: 7,094,765 (GRCm39) |
V564I |
probably damaging |
Het |
| Apol9b |
T |
C |
15: 77,620,134 (GRCm39) |
I310T |
possibly damaging |
Het |
| Arhgef28 |
C |
A |
13: 98,133,370 (GRCm39) |
V366F |
probably benign |
Het |
| B020004C17Rik |
C |
T |
14: 57,254,773 (GRCm39) |
T199I |
possibly damaging |
Het |
| Carmil2 |
C |
T |
8: 106,417,467 (GRCm39) |
T575I |
possibly damaging |
Het |
| Catsper1 |
A |
T |
19: 5,386,691 (GRCm39) |
Q308L |
unknown |
Het |
| Cpa2 |
T |
A |
6: 30,551,989 (GRCm39) |
S239T |
probably damaging |
Het |
| Cyrib |
A |
T |
15: 63,810,507 (GRCm39) |
|
probably null |
Het |
| Ddit3 |
G |
A |
10: 127,131,776 (GRCm39) |
G108D |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,628,239 (GRCm39) |
I1473V |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,445,131 (GRCm39) |
V1520A |
probably benign |
Het |
| Edc4 |
TAGTAGCAGCAGCAGTAGCAGCAGCAG |
TAGTAGCAGCAGCAG |
8: 106,615,037 (GRCm39) |
|
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,057,453 (GRCm39) |
I370F |
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,134,457 (GRCm39) |
E272G |
possibly damaging |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Fkbp11 |
T |
C |
15: 98,622,307 (GRCm39) |
K189E |
unknown |
Het |
| Frem1 |
T |
A |
4: 82,884,381 (GRCm39) |
E1190D |
probably benign |
Het |
| Gabrg2 |
A |
C |
11: 41,867,390 (GRCm39) |
Y76* |
probably null |
Het |
| Gm11437 |
T |
A |
11: 84,058,298 (GRCm39) |
|
probably benign |
Het |
| Gm8947 |
C |
A |
1: 151,068,847 (GRCm39) |
Q227K |
probably benign |
Het |
| Gm9195 |
A |
G |
14: 72,717,496 (GRCm39) |
F279S |
probably damaging |
Het |
| Gpbp1l1 |
T |
C |
4: 116,430,655 (GRCm39) |
I42T |
probably benign |
Het |
| Hdac5 |
A |
T |
11: 102,088,207 (GRCm39) |
V939E |
probably null |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Kitl |
A |
T |
10: 99,851,943 (GRCm39) |
I21F |
probably benign |
Het |
| Krt1 |
T |
C |
15: 101,755,307 (GRCm39) |
D484G |
probably damaging |
Het |
| Larp1 |
C |
A |
11: 57,938,904 (GRCm39) |
P527T |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,670,085 (GRCm39) |
V673A |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
| Mmp27 |
G |
A |
9: 7,577,318 (GRCm39) |
V228M |
probably damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myo15a |
G |
T |
11: 60,381,741 (GRCm39) |
|
probably null |
Het |
| Nek1 |
T |
A |
8: 61,542,741 (GRCm39) |
I777N |
probably benign |
Het |
| Nlrc5 |
C |
T |
8: 95,203,021 (GRCm39) |
R374* |
probably null |
Het |
| Nol8 |
T |
C |
13: 49,814,695 (GRCm39) |
S268P |
probably benign |
Het |
| Nynrin |
T |
A |
14: 56,107,968 (GRCm39) |
L1025Q |
probably damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,602 (GRCm39) |
S67P |
probably damaging |
Het |
| Osbpl3 |
A |
T |
6: 50,325,078 (GRCm39) |
L140H |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,235,835 (GRCm39) |
N1382S |
probably benign |
Het |
| Pef1 |
T |
A |
4: 130,021,178 (GRCm39) |
L244* |
probably null |
Het |
| Phf11a |
T |
C |
14: 59,518,174 (GRCm39) |
E191G |
probably benign |
Het |
| Polr3a |
A |
T |
14: 24,517,144 (GRCm39) |
D702E |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,659,798 (GRCm39) |
G1285D |
probably benign |
Het |
| Ptpn3 |
T |
C |
4: 57,221,993 (GRCm39) |
D566G |
probably damaging |
Het |
| Pwp2 |
C |
T |
10: 78,018,314 (GRCm39) |
G126R |
probably damaging |
Het |
| Scgb1b12 |
T |
C |
7: 32,033,992 (GRCm39) |
I84T |
probably damaging |
Het |
| Sh2b1 |
A |
T |
7: 126,067,685 (GRCm39) |
D618E |
possibly damaging |
Het |
| Slc35f5 |
T |
A |
1: 125,512,256 (GRCm39) |
V352E |
probably damaging |
Het |
| Sppl2c |
A |
G |
11: 104,078,430 (GRCm39) |
E410G |
probably damaging |
Het |
| St6galnac2 |
T |
C |
11: 116,570,805 (GRCm39) |
Y261C |
probably damaging |
Het |
| Stra6 |
G |
A |
9: 58,058,543 (GRCm39) |
R468Q |
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,921,188 (GRCm39) |
H924R |
unknown |
Het |
| Tbx18 |
C |
A |
9: 87,612,750 (GRCm39) |
V50L |
probably benign |
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Unc45b |
C |
T |
11: 82,833,321 (GRCm39) |
T845I |
probably benign |
Het |
| Usp15 |
T |
C |
10: 123,032,798 (GRCm39) |
D8G |
possibly damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,540 (GRCm39) |
I736V |
possibly damaging |
Het |
| Vps13c |
C |
A |
9: 67,821,355 (GRCm39) |
D1288E |
probably benign |
Het |
| Zfp458 |
T |
A |
13: 67,405,300 (GRCm39) |
M380L |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,906,437 (GRCm39) |
N201D |
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 |
|
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 |
|
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'- ACACCCATGAGCAGTGAATTTG -3'
(R):5'- GGGAAGTAAGGATCCTGTGTC -3'
Sequencing Primer
(F):5'- CAGATAGATTCCAGAGATTGTGCTG -3'
(R):5'- GAAGTAAGGATCCTGTGTCACCTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation