Incidental Mutation 'R7385:Myt1'
| ID |
605519 |
| 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 |
045467-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7385 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181405125-181469590 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4285 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 181409498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081125]
[ENSMUST00000108756]
[ENSMUST00000108757]
[ENSMUST00000183403]
|
| AlphaFold |
Q8CFC2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081125
|
| SMART Domains |
Protein: ENSMUSP00000079900
Gene: ENSMUSG00000010505
| 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 |
probably benign
Transcript: ENSMUST00000183403
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (75/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
T |
C |
1: 179,580,946 (GRCm39) |
E1752G |
possibly damaging |
Het |
| Aqp3 |
T |
C |
4: 41,095,178 (GRCm39) |
T68A |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,385,147 (GRCm39) |
K463R |
probably damaging |
Het |
| Asb10 |
A |
T |
5: 24,738,736 (GRCm39) |
C440* |
probably null |
Het |
| Bach1 |
A |
G |
16: 87,526,385 (GRCm39) |
T616A |
probably damaging |
Het |
| Braf |
T |
A |
6: 39,642,042 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
A |
T |
1: 136,020,371 (GRCm39) |
N803Y |
probably damaging |
Het |
| Cald1 |
A |
G |
6: 34,663,000 (GRCm39) |
E21G |
probably damaging |
Het |
| Caskin1 |
G |
T |
17: 24,722,898 (GRCm39) |
G589C |
probably damaging |
Het |
| Cdc37l1 |
T |
C |
19: 28,968,071 (GRCm39) |
|
probably null |
Het |
| Cntnap5b |
G |
A |
1: 100,306,815 (GRCm39) |
G844D |
probably damaging |
Het |
| Col5a1 |
T |
C |
2: 27,914,762 (GRCm39) |
L1615P |
unknown |
Het |
| Cpt1a |
C |
A |
19: 3,430,155 (GRCm39) |
P672T |
probably damaging |
Het |
| Defb22 |
A |
G |
2: 152,328,117 (GRCm39) |
Y23H |
probably damaging |
Het |
| Depdc1b |
G |
C |
13: 108,500,166 (GRCm39) |
K226N |
probably damaging |
Het |
| Derl2 |
A |
G |
11: 70,909,764 (GRCm39) |
|
probably benign |
Het |
| Dnaja2 |
T |
C |
8: 86,265,982 (GRCm39) |
T368A |
probably benign |
Het |
| Dsg3 |
C |
A |
18: 20,673,254 (GRCm39) |
T975K |
possibly damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,170,269 (GRCm39) |
D107E |
probably damaging |
Het |
| Fut11 |
A |
G |
14: 20,746,325 (GRCm39) |
D389G |
probably damaging |
Het |
| Gopc |
C |
T |
10: 52,225,328 (GRCm39) |
G299E |
probably damaging |
Het |
| Gprin1 |
T |
C |
13: 54,886,423 (GRCm39) |
D617G |
probably benign |
Het |
| Grin2d |
A |
G |
7: 45,506,960 (GRCm39) |
V505A |
probably damaging |
Het |
| Heatr6 |
T |
C |
11: 83,650,161 (GRCm39) |
Y206H |
probably damaging |
Het |
| Hhex |
C |
A |
19: 37,425,713 (GRCm39) |
N147K |
probably damaging |
Het |
| Igkv4-80 |
G |
A |
6: 68,993,699 (GRCm39) |
S64F |
probably damaging |
Het |
| Jakmip3 |
A |
G |
7: 138,625,068 (GRCm39) |
K360R |
possibly damaging |
Het |
| Kat5 |
AG |
A |
19: 5,658,297 (GRCm39) |
|
probably null |
Het |
| Kat5 |
T |
A |
19: 5,658,302 (GRCm39) |
N191I |
probably benign |
Het |
| Kifc5b |
A |
G |
17: 27,144,597 (GRCm39) |
D572G |
probably damaging |
Het |
| Lrp5 |
C |
A |
19: 3,662,197 (GRCm39) |
|
probably null |
Het |
| Lrtm1 |
A |
G |
14: 28,749,673 (GRCm39) |
M345V |
probably benign |
Het |
| Mbd5 |
T |
C |
2: 49,162,461 (GRCm39) |
V981A |
probably benign |
Het |
| Mier3 |
G |
A |
13: 111,841,783 (GRCm39) |
G115S |
possibly damaging |
Het |
| Mrgprd |
A |
G |
7: 144,875,261 (GRCm39) |
N44S |
probably damaging |
Het |
| Mrps10 |
C |
A |
17: 47,689,146 (GRCm39) |
P181Q |
probably damaging |
Het |
| Myot |
T |
A |
18: 44,470,075 (GRCm39) |
C17* |
probably null |
Het |
| Ncoa6 |
C |
A |
2: 155,249,721 (GRCm39) |
L1194F |
probably damaging |
Het |
| Or4d11 |
T |
C |
19: 12,013,363 (GRCm39) |
T248A |
probably benign |
Het |
| Or4d6 |
T |
C |
19: 12,086,061 (GRCm39) |
N57S |
probably damaging |
Het |
| Or4e5 |
T |
C |
14: 52,727,638 (GRCm39) |
Y261C |
probably damaging |
Het |
| Or7a39 |
C |
A |
10: 78,715,288 (GRCm39) |
T94K |
probably damaging |
Het |
| Or7e165 |
T |
A |
9: 19,694,507 (GRCm39) |
I26N |
possibly damaging |
Het |
| Osbpl6 |
G |
A |
2: 76,379,794 (GRCm39) |
G128E |
probably damaging |
Het |
| P3h3 |
A |
T |
6: 124,832,233 (GRCm39) |
Y218N |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,986,418 (GRCm39) |
|
probably null |
Het |
| Pdia5 |
T |
C |
16: 35,250,284 (GRCm39) |
Y225C |
probably damaging |
Het |
| Pik3c2g |
T |
G |
6: 139,801,079 (GRCm39) |
M526R |
|
Het |
| Prox1 |
A |
G |
1: 189,894,323 (GRCm39) |
F41L |
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,453,408 (GRCm39) |
F284I |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,699,678 (GRCm39) |
C1392S |
probably benign |
Het |
| Rfxank |
A |
T |
8: 70,587,285 (GRCm39) |
V212E |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,031,222 (GRCm39) |
D482G |
probably benign |
Het |
| Sat2 |
A |
T |
11: 69,513,763 (GRCm39) |
I94F |
probably damaging |
Het |
| Scarf2 |
T |
C |
16: 17,621,702 (GRCm39) |
L384P |
probably damaging |
Het |
| Sec14l2 |
C |
A |
11: 4,066,750 (GRCm39) |
E21* |
probably null |
Het |
| Slitrk5 |
T |
A |
14: 111,918,131 (GRCm39) |
V585E |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,123,571 (GRCm39) |
E3146D |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,123,729 (GRCm39) |
S3094G |
probably benign |
Het |
| Tas2r130 |
T |
A |
6: 131,607,226 (GRCm39) |
M190L |
probably benign |
Het |
| Ticrr |
G |
A |
7: 79,341,597 (GRCm39) |
S1061N |
possibly damaging |
Het |
| Tlr9 |
C |
A |
9: 106,102,463 (GRCm39) |
H585N |
probably damaging |
Het |
| Tmem219 |
A |
T |
7: 126,495,947 (GRCm39) |
I142N |
probably damaging |
Het |
| Tnni2 |
A |
G |
7: 141,996,915 (GRCm39) |
N8S |
probably benign |
Het |
| Tnpo2 |
G |
A |
8: 85,776,748 (GRCm39) |
R485H |
probably damaging |
Het |
| Ttc8 |
A |
G |
12: 98,908,547 (GRCm39) |
E72G |
possibly damaging |
Het |
| Upf1 |
A |
G |
8: 70,793,268 (GRCm39) |
Y297H |
probably damaging |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,721 (GRCm39) |
K75R |
probably damaging |
Het |
| Vmn2r78 |
G |
A |
7: 86,571,633 (GRCm39) |
G481D |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,803,302 (GRCm39) |
Y404C |
probably damaging |
Het |
| Vps50 |
T |
A |
6: 3,602,708 (GRCm39) |
S942T |
probably benign |
Het |
| Xkr7 |
C |
A |
2: 152,895,983 (GRCm39) |
S279* |
probably null |
Het |
| Zan |
G |
A |
5: 137,432,416 (GRCm39) |
Q2294* |
probably null |
Het |
| Zan |
T |
C |
5: 137,448,753 (GRCm39) |
Y1700C |
unknown |
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 |
|
R7368:Myt1
|
UTSW |
2 |
181,424,384 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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'- GAAGGACAAGGCTTTCTTCTCC -3'
(R):5'- CTGGATCCCACAGACACATG -3'
Sequencing Primer
(F):5'- CCTGTCTGCCTGGGCTGTG -3'
(R):5'- ACACATGCTCCCTGGGTGTTG -3'
|
| Posted On |
2019-12-11 |
Incidental Mutation