Incidental Mutation 'R4603:Myt1l'
ID |
345809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myt1l
|
Ensembl Gene |
ENSMUSG00000061911 |
Gene Name |
myelin transcription factor 1-like |
Synonyms |
2900093J19Rik, Png-1, 2900046C06Rik, C630034G21Rik, Nztf1, Pmng1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4603 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
29578383-29973212 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29892539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 59
(T59A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151919
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021009]
[ENSMUST00000049784]
[ENSMUST00000218198]
[ENSMUST00000218583]
|
AlphaFold |
P97500 |
Predicted Effect |
unknown
Transcript: ENSMUST00000021009
AA Change: T654A
|
SMART Domains |
Protein: ENSMUSP00000021009 Gene: ENSMUSG00000061911 AA Change: T654A
Domain | Start | End | E-Value | Type |
Pfam:zf-C2HC
|
28 |
58 |
8.3e-19 |
PFAM |
coiled coil region
|
148 |
182 |
N/A |
INTRINSIC |
low complexity region
|
188 |
200 |
N/A |
INTRINSIC |
low complexity region
|
222 |
233 |
N/A |
INTRINSIC |
Pfam:zf-C2HC
|
502 |
532 |
1.1e-16 |
PFAM |
Pfam:zf-C2HC
|
546 |
576 |
4e-18 |
PFAM |
Pfam:MYT1
|
620 |
872 |
2.7e-135 |
PFAM |
Pfam:zf-C2HC
|
901 |
931 |
8.4e-20 |
PFAM |
Pfam:zf-C2HC
|
950 |
980 |
1.2e-18 |
PFAM |
Pfam:zf-C2HC
|
1003 |
1033 |
1.1e-17 |
PFAM |
coiled coil region
|
1055 |
1130 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000049784
AA Change: T656A
|
SMART Domains |
Protein: ENSMUSP00000058264 Gene: ENSMUSG00000061911 AA Change: T656A
Domain | Start | End | E-Value | Type |
Pfam:zf-C2HC
|
30 |
58 |
5.1e-18 |
PFAM |
coiled coil region
|
148 |
182 |
N/A |
INTRINSIC |
low complexity region
|
188 |
200 |
N/A |
INTRINSIC |
low complexity region
|
222 |
233 |
N/A |
INTRINSIC |
Pfam:zf-C2HC
|
506 |
533 |
9.9e-15 |
PFAM |
Pfam:zf-C2HC
|
550 |
578 |
2.4e-16 |
PFAM |
Pfam:MYT1
|
622 |
873 |
2.7e-122 |
PFAM |
Pfam:zf-C2HC
|
905 |
933 |
6.3e-19 |
PFAM |
Pfam:zf-C2HC
|
954 |
982 |
1.6e-18 |
PFAM |
Pfam:zf-C2HC
|
1007 |
1035 |
1.4e-16 |
PFAM |
coiled coil region
|
1057 |
1132 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218198
AA Change: T59A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000218583
AA Change: T654A
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the zinc finger superfamily of transcription factors. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with autosomal mental retardation-39 and autism spectrum disorder. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810024B03Rik |
A |
G |
2: 127,029,019 (GRCm39) |
V60A |
probably damaging |
Het |
AAdacl4fm3 |
A |
G |
4: 144,429,798 (GRCm39) |
V397A |
probably benign |
Het |
Afg3l1 |
A |
G |
8: 124,228,674 (GRCm39) |
T747A |
probably benign |
Het |
Aldh4a1 |
T |
C |
4: 139,370,740 (GRCm39) |
S408P |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,825,665 (GRCm39) |
T445A |
probably benign |
Het |
Antxrl |
A |
G |
14: 33,797,792 (GRCm39) |
E589G |
possibly damaging |
Het |
Arhgef12 |
C |
T |
9: 42,921,489 (GRCm39) |
G329R |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
AY358078 |
T |
A |
14: 52,063,532 (GRCm39) |
C393S |
possibly damaging |
Het |
Bpnt2 |
T |
C |
4: 4,767,878 (GRCm39) |
I299M |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,459,630 (GRCm39) |
C302S |
possibly damaging |
Het |
Ccdc169 |
T |
A |
3: 55,058,226 (GRCm39) |
M4K |
probably benign |
Het |
Ccdc66 |
T |
C |
14: 27,222,377 (GRCm39) |
N122S |
probably damaging |
Het |
Cd226 |
T |
C |
18: 89,225,343 (GRCm39) |
V80A |
probably damaging |
Het |
Cdc73 |
T |
C |
1: 143,553,595 (GRCm39) |
|
probably null |
Het |
Cfap96 |
A |
T |
8: 46,423,505 (GRCm39) |
I69N |
probably damaging |
Het |
Cse1l |
T |
C |
2: 166,786,452 (GRCm39) |
V604A |
probably benign |
Het |
Cxcr1 |
G |
C |
1: 74,231,896 (GRCm39) |
T42S |
probably benign |
Het |
Dhx9 |
TCC |
TC |
1: 153,342,797 (GRCm39) |
|
probably null |
Het |
Ercc3 |
G |
A |
18: 32,378,624 (GRCm39) |
A202T |
probably benign |
Het |
Erp27 |
A |
G |
6: 136,896,947 (GRCm39) |
V85A |
probably damaging |
Het |
Fam3d |
T |
A |
14: 8,358,429 (GRCm38) |
S57C |
probably damaging |
Het |
Fgf8 |
T |
G |
19: 45,726,592 (GRCm39) |
I137L |
probably benign |
Het |
Fgfrl1 |
T |
A |
5: 108,851,401 (GRCm39) |
V106D |
probably damaging |
Het |
Gaa |
T |
C |
11: 119,169,784 (GRCm39) |
W613R |
probably damaging |
Het |
Gabarap |
A |
G |
11: 69,885,287 (GRCm39) |
N66S |
probably benign |
Het |
Gp1bb |
A |
T |
16: 18,439,893 (GRCm39) |
L67Q |
probably damaging |
Het |
Gpn1 |
T |
C |
5: 31,654,696 (GRCm39) |
|
probably null |
Het |
Gstt1 |
T |
C |
10: 75,629,969 (GRCm39) |
Y48C |
probably damaging |
Het |
Iqcg |
C |
T |
16: 32,861,134 (GRCm39) |
R194K |
probably null |
Het |
Iqcg |
C |
G |
16: 32,861,133 (GRCm39) |
|
probably null |
Het |
Kcnj3 |
C |
T |
2: 55,336,991 (GRCm39) |
R286* |
probably null |
Het |
Klhl38 |
T |
A |
15: 58,186,616 (GRCm39) |
I38F |
possibly damaging |
Het |
Kmo |
C |
A |
1: 175,479,208 (GRCm39) |
P248Q |
probably benign |
Het |
Mbtps1 |
A |
T |
8: 120,262,086 (GRCm39) |
D354E |
probably damaging |
Het |
Mcpt9 |
C |
T |
14: 56,266,049 (GRCm39) |
V60M |
probably damaging |
Het |
Mical3 |
C |
A |
6: 120,911,799 (GRCm39) |
E1083* |
probably null |
Het |
Mprip |
T |
C |
11: 59,622,399 (GRCm39) |
V162A |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Myocd |
T |
C |
11: 65,078,571 (GRCm39) |
D408G |
possibly damaging |
Het |
Ndufb7 |
A |
G |
8: 84,293,494 (GRCm39) |
E16G |
probably damaging |
Het |
Ndufs7 |
T |
A |
10: 80,092,501 (GRCm39) |
Y203* |
probably null |
Het |
Nploc4 |
C |
T |
11: 120,276,613 (GRCm39) |
V478I |
probably benign |
Het |
Nrap |
A |
G |
19: 56,323,456 (GRCm39) |
|
probably null |
Het |
Or5e1 |
A |
T |
7: 108,354,834 (GRCm39) |
Y257F |
probably damaging |
Het |
Or6c207 |
G |
A |
10: 129,104,274 (GRCm39) |
A306V |
probably benign |
Het |
Pald1 |
T |
C |
10: 61,184,395 (GRCm39) |
T241A |
probably benign |
Het |
Pdss2 |
T |
C |
10: 43,248,197 (GRCm39) |
S234P |
probably damaging |
Het |
Pias2 |
T |
A |
18: 77,217,803 (GRCm39) |
V335E |
probably damaging |
Het |
Ppip5k2 |
C |
A |
1: 97,682,861 (GRCm39) |
K187N |
probably damaging |
Het |
Ppp3cb |
T |
C |
14: 20,570,714 (GRCm39) |
N339S |
possibly damaging |
Het |
Ppp4r1 |
T |
G |
17: 66,120,459 (GRCm39) |
C181G |
probably damaging |
Het |
Pramel27 |
T |
A |
4: 143,579,451 (GRCm39) |
H345Q |
probably benign |
Het |
Prkdc |
G |
A |
16: 15,628,688 (GRCm39) |
E3478K |
probably damaging |
Het |
Prpf4b |
T |
C |
13: 35,072,147 (GRCm39) |
|
probably benign |
Het |
Psme3 |
T |
A |
11: 101,208,435 (GRCm39) |
|
probably null |
Het |
Ptpre |
C |
A |
7: 135,269,372 (GRCm39) |
Y284* |
probably null |
Het |
Scnn1a |
A |
G |
6: 125,299,123 (GRCm39) |
I94V |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Shc2 |
T |
C |
10: 79,459,690 (GRCm39) |
D418G |
probably benign |
Het |
Sidt1 |
A |
T |
16: 44,075,389 (GRCm39) |
D661E |
probably damaging |
Het |
Slc35e2 |
T |
C |
4: 155,702,106 (GRCm39) |
F290S |
probably benign |
Het |
Sorcs1 |
A |
G |
19: 50,301,402 (GRCm39) |
|
probably null |
Het |
Stox2 |
A |
G |
8: 47,645,970 (GRCm39) |
S497P |
probably damaging |
Het |
Tmem270 |
C |
A |
5: 134,930,482 (GRCm39) |
E260* |
probably null |
Het |
Tmtc2 |
T |
C |
10: 105,249,391 (GRCm39) |
Y114C |
probably benign |
Het |
Trim46 |
A |
G |
3: 89,150,958 (GRCm39) |
F188S |
probably benign |
Het |
Trim7 |
T |
A |
11: 48,728,355 (GRCm39) |
M1K |
probably null |
Het |
Txnip |
A |
G |
3: 96,465,604 (GRCm39) |
E18G |
probably benign |
Het |
Usp34 |
A |
G |
11: 23,414,633 (GRCm39) |
N2859D |
probably damaging |
Het |
Vmn2r94 |
T |
A |
17: 18,477,647 (GRCm39) |
I255F |
probably benign |
Het |
Xkr5 |
T |
A |
8: 18,983,733 (GRCm39) |
N603I |
possibly damaging |
Het |
Zfp512 |
C |
T |
5: 31,637,570 (GRCm39) |
A497V |
probably benign |
Het |
Zfp518b |
T |
C |
5: 38,830,970 (GRCm39) |
N345S |
probably damaging |
Het |
|
Other mutations in Myt1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00490:Myt1l
|
APN |
12 |
29,877,423 (GRCm39) |
missense |
unknown |
|
IGL00896:Myt1l
|
APN |
12 |
29,876,885 (GRCm39) |
missense |
unknown |
|
IGL01653:Myt1l
|
APN |
12 |
29,960,770 (GRCm39) |
missense |
unknown |
|
IGL02632:Myt1l
|
APN |
12 |
29,964,292 (GRCm39) |
missense |
unknown |
|
IGL03088:Myt1l
|
APN |
12 |
29,970,476 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03212:Myt1l
|
APN |
12 |
29,877,819 (GRCm39) |
missense |
unknown |
|
BB003:Myt1l
|
UTSW |
12 |
29,861,651 (GRCm39) |
missense |
unknown |
|
BB013:Myt1l
|
UTSW |
12 |
29,861,651 (GRCm39) |
missense |
unknown |
|
R0057:Myt1l
|
UTSW |
12 |
29,892,611 (GRCm39) |
splice site |
probably null |
|
R0126:Myt1l
|
UTSW |
12 |
29,901,719 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0356:Myt1l
|
UTSW |
12 |
29,861,500 (GRCm39) |
missense |
unknown |
|
R0538:Myt1l
|
UTSW |
12 |
29,892,570 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0587:Myt1l
|
UTSW |
12 |
29,861,634 (GRCm39) |
missense |
unknown |
|
R0629:Myt1l
|
UTSW |
12 |
29,861,484 (GRCm39) |
missense |
unknown |
|
R0709:Myt1l
|
UTSW |
12 |
29,877,732 (GRCm39) |
missense |
unknown |
|
R0736:Myt1l
|
UTSW |
12 |
29,877,813 (GRCm39) |
missense |
unknown |
|
R0920:Myt1l
|
UTSW |
12 |
29,936,138 (GRCm39) |
missense |
unknown |
|
R1618:Myt1l
|
UTSW |
12 |
29,877,396 (GRCm39) |
missense |
unknown |
|
R1660:Myt1l
|
UTSW |
12 |
29,945,272 (GRCm39) |
missense |
unknown |
|
R1716:Myt1l
|
UTSW |
12 |
29,861,537 (GRCm39) |
missense |
unknown |
|
R1758:Myt1l
|
UTSW |
12 |
29,877,241 (GRCm39) |
missense |
unknown |
|
R1852:Myt1l
|
UTSW |
12 |
29,901,660 (GRCm39) |
missense |
probably benign |
0.27 |
R1971:Myt1l
|
UTSW |
12 |
29,877,091 (GRCm39) |
missense |
unknown |
|
R2120:Myt1l
|
UTSW |
12 |
29,833,618 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2227:Myt1l
|
UTSW |
12 |
29,876,969 (GRCm39) |
missense |
unknown |
|
R2865:Myt1l
|
UTSW |
12 |
29,960,788 (GRCm39) |
missense |
probably benign |
0.00 |
R4587:Myt1l
|
UTSW |
12 |
29,960,800 (GRCm39) |
missense |
unknown |
|
R4659:Myt1l
|
UTSW |
12 |
29,899,456 (GRCm39) |
missense |
probably damaging |
0.98 |
R4734:Myt1l
|
UTSW |
12 |
29,969,925 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4786:Myt1l
|
UTSW |
12 |
29,861,457 (GRCm39) |
missense |
unknown |
|
R4824:Myt1l
|
UTSW |
12 |
29,899,399 (GRCm39) |
missense |
probably benign |
0.02 |
R4835:Myt1l
|
UTSW |
12 |
29,945,304 (GRCm39) |
missense |
unknown |
|
R4888:Myt1l
|
UTSW |
12 |
29,936,138 (GRCm39) |
missense |
unknown |
|
R4976:Myt1l
|
UTSW |
12 |
29,882,302 (GRCm39) |
missense |
unknown |
|
R4980:Myt1l
|
UTSW |
12 |
29,877,038 (GRCm39) |
missense |
unknown |
|
R5119:Myt1l
|
UTSW |
12 |
29,882,302 (GRCm39) |
missense |
unknown |
|
R5194:Myt1l
|
UTSW |
12 |
29,861,647 (GRCm39) |
missense |
unknown |
|
R5247:Myt1l
|
UTSW |
12 |
29,882,331 (GRCm39) |
missense |
unknown |
|
R5249:Myt1l
|
UTSW |
12 |
29,882,331 (GRCm39) |
missense |
unknown |
|
R5427:Myt1l
|
UTSW |
12 |
29,882,331 (GRCm39) |
missense |
unknown |
|
R5428:Myt1l
|
UTSW |
12 |
29,882,331 (GRCm39) |
missense |
unknown |
|
R5429:Myt1l
|
UTSW |
12 |
29,882,331 (GRCm39) |
missense |
unknown |
|
R5431:Myt1l
|
UTSW |
12 |
29,882,331 (GRCm39) |
missense |
unknown |
|
R5628:Myt1l
|
UTSW |
12 |
29,861,620 (GRCm39) |
missense |
unknown |
|
R5926:Myt1l
|
UTSW |
12 |
29,882,331 (GRCm39) |
missense |
unknown |
|
R5959:Myt1l
|
UTSW |
12 |
29,970,039 (GRCm39) |
critical splice donor site |
probably null |
|
R6082:Myt1l
|
UTSW |
12 |
29,892,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R6082:Myt1l
|
UTSW |
12 |
29,882,331 (GRCm39) |
missense |
unknown |
|
R6084:Myt1l
|
UTSW |
12 |
29,882,331 (GRCm39) |
missense |
unknown |
|
R6086:Myt1l
|
UTSW |
12 |
29,882,331 (GRCm39) |
missense |
unknown |
|
R6145:Myt1l
|
UTSW |
12 |
29,882,380 (GRCm39) |
missense |
unknown |
|
R6293:Myt1l
|
UTSW |
12 |
29,877,627 (GRCm39) |
missense |
unknown |
|
R6315:Myt1l
|
UTSW |
12 |
29,877,797 (GRCm39) |
missense |
unknown |
|
R6458:Myt1l
|
UTSW |
12 |
29,945,298 (GRCm39) |
missense |
unknown |
|
R6490:Myt1l
|
UTSW |
12 |
29,882,365 (GRCm39) |
missense |
unknown |
|
R6758:Myt1l
|
UTSW |
12 |
29,892,599 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7230:Myt1l
|
UTSW |
12 |
29,833,873 (GRCm39) |
missense |
probably damaging |
0.99 |
R7330:Myt1l
|
UTSW |
12 |
29,901,553 (GRCm39) |
missense |
unknown |
|
R7545:Myt1l
|
UTSW |
12 |
29,877,087 (GRCm39) |
missense |
unknown |
|
R7662:Myt1l
|
UTSW |
12 |
29,876,868 (GRCm39) |
missense |
unknown |
|
R7744:Myt1l
|
UTSW |
12 |
29,877,548 (GRCm39) |
missense |
unknown |
|
R7926:Myt1l
|
UTSW |
12 |
29,861,651 (GRCm39) |
missense |
unknown |
|
R8832:Myt1l
|
UTSW |
12 |
29,970,351 (GRCm39) |
missense |
unknown |
|
R8903:Myt1l
|
UTSW |
12 |
29,861,468 (GRCm39) |
missense |
unknown |
|
R8923:Myt1l
|
UTSW |
12 |
29,960,800 (GRCm39) |
missense |
unknown |
|
R8935:Myt1l
|
UTSW |
12 |
29,877,243 (GRCm39) |
missense |
unknown |
|
R8944:Myt1l
|
UTSW |
12 |
29,861,564 (GRCm39) |
missense |
unknown |
|
R9000:Myt1l
|
UTSW |
12 |
29,901,740 (GRCm39) |
missense |
unknown |
|
R9329:Myt1l
|
UTSW |
12 |
29,901,659 (GRCm39) |
missense |
unknown |
|
R9523:Myt1l
|
UTSW |
12 |
29,877,611 (GRCm39) |
missense |
unknown |
|
R9599:Myt1l
|
UTSW |
12 |
29,943,441 (GRCm39) |
missense |
unknown |
|
U24488:Myt1l
|
UTSW |
12 |
29,876,895 (GRCm39) |
missense |
unknown |
|
Z1177:Myt1l
|
UTSW |
12 |
29,892,467 (GRCm39) |
missense |
unknown |
|
Z1177:Myt1l
|
UTSW |
12 |
29,861,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGTACTGGGATAAACATGCG -3'
(R):5'- CACTGGGTGAGCACGAATAGTG -3'
Sequencing Primer
(F):5'- GATAAACATGCGTCACGTTGC -3'
(R):5'- CACGAATAGTGGCTGATCTGC -3'
|
Posted On |
2015-09-25 |