Incidental Mutation 'R1716:Myt1l'
ID |
191047 |
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 |
MMRRC Submission |
039749-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1716 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
29578383-29973212 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29861537 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 106
(D106E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151588
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021009]
[ENSMUST00000049784]
[ENSMUST00000218583]
|
AlphaFold |
P97500 |
Predicted Effect |
unknown
Transcript: ENSMUST00000021009
AA Change: D106E
|
SMART Domains |
Protein: ENSMUSP00000021009 Gene: ENSMUSG00000061911 AA Change: D106E
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: D106E
|
SMART Domains |
Protein: ENSMUSP00000058264 Gene: ENSMUSG00000061911 AA Change: D106E
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 |
unknown
Transcript: ENSMUST00000218583
AA Change: D106E
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,731,946 (GRCm39) |
T2A |
unknown |
Het |
Adgrf3 |
T |
A |
5: 30,402,549 (GRCm39) |
Q493L |
probably benign |
Het |
Ak6 |
T |
C |
13: 100,792,177 (GRCm39) |
S207P |
probably benign |
Het |
Ang |
A |
G |
14: 51,338,937 (GRCm39) |
D26G |
probably benign |
Het |
Ang |
T |
C |
14: 51,338,957 (GRCm39) |
F33L |
probably damaging |
Het |
Arhgef38 |
T |
A |
3: 132,846,598 (GRCm39) |
Y389F |
probably benign |
Het |
Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
Bicd2 |
C |
A |
13: 49,531,786 (GRCm39) |
H343N |
probably benign |
Het |
Casp4 |
G |
A |
9: 5,308,919 (GRCm39) |
|
probably null |
Het |
Cd22 |
A |
G |
7: 30,577,103 (GRCm39) |
F68S |
probably damaging |
Het |
Cd46 |
T |
A |
1: 194,760,117 (GRCm39) |
Q245L |
probably benign |
Het |
Cntnap2 |
A |
T |
6: 47,084,826 (GRCm39) |
R1096* |
probably null |
Het |
Cntnap3 |
A |
G |
13: 64,909,816 (GRCm39) |
V763A |
probably damaging |
Het |
Cyp3a11 |
T |
C |
5: 145,805,776 (GRCm39) |
T171A |
probably benign |
Het |
Defa30 |
A |
G |
8: 21,625,431 (GRCm39) |
Y65C |
probably damaging |
Het |
Defb18 |
A |
T |
1: 18,306,875 (GRCm39) |
M27K |
probably benign |
Het |
Dnah17 |
A |
G |
11: 117,923,424 (GRCm39) |
S4071P |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,230,943 (GRCm39) |
D1400E |
probably damaging |
Het |
Dpysl5 |
C |
T |
5: 30,935,338 (GRCm39) |
T147I |
probably benign |
Het |
Dsg4 |
C |
T |
18: 20,595,518 (GRCm39) |
R574* |
probably null |
Het |
Entrep2 |
A |
T |
7: 64,426,633 (GRCm39) |
|
probably null |
Het |
Epm2a |
A |
G |
10: 11,324,580 (GRCm39) |
E223G |
probably benign |
Het |
Etl4 |
T |
C |
2: 20,748,492 (GRCm39) |
S75P |
probably damaging |
Het |
Fbxw15 |
T |
A |
9: 109,386,204 (GRCm39) |
M312L |
probably benign |
Het |
Fcgr4 |
C |
T |
1: 170,847,672 (GRCm39) |
T90I |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,700,584 (GRCm39) |
D201E |
probably benign |
Het |
Gadl1 |
A |
T |
9: 115,835,576 (GRCm39) |
K335* |
probably null |
Het |
Gcsam |
T |
G |
16: 45,440,356 (GRCm39) |
V133G |
probably damaging |
Het |
Gml |
G |
T |
15: 74,685,665 (GRCm39) |
L107I |
possibly damaging |
Het |
Golga2 |
T |
A |
2: 32,192,909 (GRCm39) |
L409Q |
probably damaging |
Het |
Gtf2a1l |
A |
T |
17: 89,002,008 (GRCm39) |
Q241L |
probably benign |
Het |
Gtf3c3 |
A |
G |
1: 54,438,419 (GRCm39) |
Y799H |
probably damaging |
Het |
Guca1b |
T |
G |
17: 47,702,126 (GRCm39) |
|
probably benign |
Het |
Igdcc4 |
C |
A |
9: 65,034,179 (GRCm39) |
H617Q |
probably damaging |
Het |
Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
Itga2b |
A |
C |
11: 102,351,603 (GRCm39) |
I574S |
probably benign |
Het |
Kcnk7 |
A |
T |
19: 5,756,859 (GRCm39) |
I283F |
probably damaging |
Het |
Kirrel3 |
T |
A |
9: 34,934,843 (GRCm39) |
L450M |
probably damaging |
Het |
Lmntd1 |
A |
T |
6: 145,365,600 (GRCm39) |
S176R |
probably damaging |
Het |
Lrrc39 |
C |
T |
3: 116,373,216 (GRCm39) |
T292I |
probably benign |
Het |
Ltbp1 |
A |
T |
17: 75,622,019 (GRCm39) |
H801L |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,295,196 (GRCm39) |
Q3318L |
probably damaging |
Het |
Man1b1 |
T |
A |
2: 25,235,032 (GRCm39) |
N282K |
probably benign |
Het |
Map2k6 |
A |
T |
11: 110,388,727 (GRCm39) |
E223V |
probably damaging |
Het |
Marf1 |
C |
A |
16: 13,960,450 (GRCm39) |
R531S |
possibly damaging |
Het |
Mfge8 |
G |
A |
7: 78,792,191 (GRCm39) |
R245C |
probably damaging |
Het |
Mogat1 |
T |
G |
1: 78,514,681 (GRCm39) |
N318K |
probably benign |
Het |
Myh4 |
T |
A |
11: 67,141,135 (GRCm39) |
S732R |
possibly damaging |
Het |
Ndc1 |
T |
C |
4: 107,241,992 (GRCm39) |
F302L |
probably damaging |
Het |
Ndrg4 |
C |
T |
8: 96,438,956 (GRCm39) |
A290V |
probably benign |
Het |
Nfia |
A |
T |
4: 97,951,365 (GRCm39) |
K397N |
probably damaging |
Het |
Nlrp4e |
A |
T |
7: 23,020,458 (GRCm39) |
Q315L |
possibly damaging |
Het |
Oga |
C |
A |
19: 45,740,613 (GRCm39) |
K907N |
probably benign |
Het |
Or10p22 |
A |
C |
10: 128,826,721 (GRCm39) |
*313C |
probably null |
Het |
Or1ad8 |
T |
A |
11: 50,898,679 (GRCm39) |
N293K |
probably damaging |
Het |
Peg3 |
T |
C |
7: 6,710,780 (GRCm39) |
I1481V |
possibly damaging |
Het |
Phldb2 |
C |
T |
16: 45,595,413 (GRCm39) |
G883D |
probably benign |
Het |
Pik3c2b |
T |
A |
1: 133,022,564 (GRCm39) |
Y1169N |
probably damaging |
Het |
Plcl1 |
A |
T |
1: 55,734,997 (GRCm39) |
I113F |
probably damaging |
Het |
Pomt2 |
T |
C |
12: 87,171,610 (GRCm39) |
I457V |
probably benign |
Het |
Ppil1 |
T |
C |
17: 29,480,809 (GRCm39) |
N38S |
possibly damaging |
Het |
Prf1 |
A |
G |
10: 61,136,231 (GRCm39) |
N169S |
probably benign |
Het |
Prmt8 |
A |
C |
6: 127,703,486 (GRCm39) |
|
probably null |
Het |
Ptprg |
T |
A |
14: 12,154,360 (GRCm38) |
S694T |
probably benign |
Het |
Rab12 |
A |
T |
17: 66,807,315 (GRCm39) |
M138K |
possibly damaging |
Het |
Reln |
T |
C |
5: 22,160,093 (GRCm39) |
T2159A |
probably damaging |
Het |
Retsat |
A |
T |
6: 72,583,063 (GRCm39) |
Y36F |
probably damaging |
Het |
Rgs14 |
A |
T |
13: 55,526,696 (GRCm39) |
Q116L |
probably damaging |
Het |
Rlbp1 |
A |
T |
7: 79,025,684 (GRCm39) |
N252K |
probably damaging |
Het |
Rtraf |
A |
G |
14: 19,862,242 (GRCm39) |
L215P |
probably damaging |
Het |
Sec1 |
A |
T |
7: 45,328,789 (GRCm39) |
M86K |
probably benign |
Het |
Sec24b |
A |
T |
3: 129,834,665 (GRCm39) |
S42T |
possibly damaging |
Het |
Serpinb9d |
T |
C |
13: 33,380,500 (GRCm39) |
S129P |
probably damaging |
Het |
Slc35f5 |
T |
G |
1: 125,512,269 (GRCm39) |
D356E |
possibly damaging |
Het |
Smpd4 |
T |
C |
16: 17,460,365 (GRCm39) |
S694P |
probably damaging |
Het |
Spag6 |
G |
T |
2: 18,750,420 (GRCm39) |
|
probably null |
Het |
Spata31d1c |
T |
C |
13: 65,181,030 (GRCm39) |
I43T |
possibly damaging |
Het |
Ssh1 |
T |
C |
5: 114,090,081 (GRCm39) |
D314G |
possibly damaging |
Het |
Tnfrsf17 |
G |
A |
16: 11,137,595 (GRCm39) |
D111N |
probably benign |
Het |
Ttn |
A |
G |
2: 76,553,635 (GRCm39) |
I30994T |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,614,320 (GRCm39) |
F8737L |
probably damaging |
Het |
Ush1c |
G |
T |
7: 45,845,152 (GRCm39) |
F890L |
probably benign |
Het |
Usp36 |
C |
T |
11: 118,162,957 (GRCm39) |
|
probably null |
Het |
Vmn2r115 |
T |
C |
17: 23,566,795 (GRCm39) |
Y436H |
probably benign |
Het |
Vmn2r94 |
T |
A |
17: 18,477,635 (GRCm39) |
M259L |
probably benign |
Het |
Wwp1 |
T |
C |
4: 19,659,698 (GRCm39) |
T197A |
probably benign |
Het |
Zbtb37 |
T |
A |
1: 160,847,814 (GRCm39) |
M398L |
probably benign |
Het |
Zfp804b |
C |
T |
5: 6,819,673 (GRCm39) |
C1130Y |
probably benign |
Het |
Zfp9 |
A |
G |
6: 118,441,712 (GRCm39) |
C317R |
probably damaging |
Het |
Zscan20 |
T |
C |
4: 128,480,334 (GRCm39) |
H719R |
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 |
|
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 |
|
R4603:Myt1l
|
UTSW |
12 |
29,892,539 (GRCm39) |
missense |
probably benign |
0.01 |
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'- TGTGTGAGAGAACAGTAGTGCCCTC -3'
(R):5'- AAGCATGGCCTAAGCTTTGGGAG -3'
Sequencing Primer
(F):5'- TGCTCTGATATCCAGGCAGTAAC -3'
(R):5'- tcttcttcctcttcctcttcttc -3'
|
Posted On |
2014-05-14 |