Incidental Mutation 'R1618:Myt1l'
| ID |
174457 |
| 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 |
039655-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1618 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
29578383-29973212 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29877396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 349
(D349G)
|
| 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: D349G
|
| SMART Domains |
Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: D349G
| 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: D349G
|
| SMART Domains |
Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: D349G
| 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: D349G
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 89.1%
|
| Validation Efficiency |
96% (79/82) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449E01Rik |
T |
C |
14: 105,736,380 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8b |
A |
T |
11: 109,840,714 (GRCm39) |
|
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Anln |
A |
G |
9: 22,262,214 (GRCm39) |
|
probably null |
Het |
| Anpep |
T |
G |
7: 79,485,165 (GRCm39) |
Q607P |
probably benign |
Het |
| Arl13b |
A |
C |
16: 62,633,640 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
C |
18: 22,650,044 (GRCm39) |
S678P |
probably damaging |
Het |
| Atf6b |
C |
T |
17: 34,866,702 (GRCm39) |
Q58* |
probably null |
Het |
| Camsap3 |
A |
G |
8: 3,648,740 (GRCm39) |
T20A |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,232,726 (GRCm39) |
M782L |
probably benign |
Het |
| Cngb3 |
T |
C |
4: 19,364,260 (GRCm39) |
S155P |
probably benign |
Het |
| Coro1a |
T |
C |
7: 126,300,719 (GRCm39) |
I162V |
probably benign |
Het |
| Cry1 |
T |
A |
10: 84,982,318 (GRCm39) |
I343F |
probably damaging |
Het |
| Csnk1e |
A |
T |
15: 79,309,050 (GRCm39) |
M292K |
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cul9 |
A |
T |
17: 46,836,818 (GRCm39) |
M1069K |
probably benign |
Het |
| Cyp2c67 |
C |
A |
19: 39,631,708 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,979,200 (GRCm39) |
I2633V |
probably damaging |
Het |
| Eif4g3 |
C |
A |
4: 137,933,369 (GRCm39) |
D1731E |
probably damaging |
Het |
| Epb41l4b |
T |
C |
4: 57,032,204 (GRCm39) |
T592A |
probably benign |
Het |
| Evi5 |
T |
C |
5: 107,946,984 (GRCm39) |
|
probably benign |
Het |
| Exo1 |
T |
A |
1: 175,728,952 (GRCm39) |
M672K |
probably benign |
Het |
| Fcho1 |
T |
C |
8: 72,163,047 (GRCm39) |
S661G |
probably damaging |
Het |
| Fnip2 |
A |
G |
3: 79,415,475 (GRCm39) |
Y188H |
possibly damaging |
Het |
| Foxb1 |
T |
C |
9: 69,667,293 (GRCm39) |
D79G |
probably damaging |
Het |
| Fyco1 |
T |
C |
9: 123,658,346 (GRCm39) |
Y610C |
probably damaging |
Het |
| Gm3095 |
T |
A |
14: 15,170,441 (GRCm39) |
Y97N |
probably damaging |
Het |
| Gm3095 |
C |
A |
14: 15,170,440 (GRCm39) |
N96K |
probably damaging |
Het |
| Gmfb |
A |
T |
14: 47,049,237 (GRCm39) |
L128* |
probably null |
Het |
| Gprc5c |
T |
A |
11: 114,755,220 (GRCm39) |
V299D |
possibly damaging |
Het |
| Hsfy2 |
C |
T |
1: 56,676,388 (GRCm39) |
V50I |
probably benign |
Het |
| Hspa12b |
A |
C |
2: 130,982,849 (GRCm39) |
K236Q |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,080,221 (GRCm39) |
Y566C |
probably damaging |
Het |
| Itpr3 |
A |
C |
17: 27,335,581 (GRCm39) |
|
probably null |
Het |
| Kprp |
G |
A |
3: 92,732,783 (GRCm39) |
T89I |
probably damaging |
Het |
| Lcmt2 |
T |
C |
2: 120,969,133 (GRCm39) |
E650G |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,051,144 (GRCm39) |
D331G |
probably damaging |
Het |
| Mroh9 |
T |
A |
1: 162,852,110 (GRCm39) |
I860F |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Ndufs2 |
T |
C |
1: 171,073,690 (GRCm39) |
T31A |
probably benign |
Het |
| Ndufs3 |
A |
T |
2: 90,729,016 (GRCm39) |
S157T |
probably benign |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Noct |
T |
A |
3: 51,155,251 (GRCm39) |
S6R |
probably damaging |
Het |
| Npas2 |
T |
A |
1: 39,339,808 (GRCm39) |
H119Q |
probably damaging |
Het |
| Oprl1 |
A |
T |
2: 181,360,646 (GRCm39) |
Y207F |
probably benign |
Het |
| Or2n1e |
G |
A |
17: 38,586,557 (GRCm39) |
|
probably null |
Het |
| Or4c11 |
A |
G |
2: 88,695,871 (GRCm39) |
|
probably null |
Het |
| Or8k30 |
T |
G |
2: 86,339,193 (GRCm39) |
L130R |
probably damaging |
Het |
| Palm3 |
G |
T |
8: 84,756,291 (GRCm39) |
S601I |
possibly damaging |
Het |
| Plscr1 |
T |
A |
9: 92,148,548 (GRCm39) |
C163S |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,369,166 (GRCm39) |
M713L |
probably benign |
Het |
| Rdm1 |
A |
G |
11: 101,519,217 (GRCm39) |
D72G |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,265,366 (GRCm39) |
D442G |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Sbno1 |
T |
C |
5: 124,542,279 (GRCm39) |
Y338C |
probably damaging |
Het |
| Seh1l |
T |
G |
18: 67,921,806 (GRCm39) |
V222G |
probably damaging |
Het |
| Septin12 |
T |
C |
16: 4,814,340 (GRCm39) |
K43R |
probably damaging |
Het |
| Slc25a18 |
A |
C |
6: 120,763,303 (GRCm39) |
|
probably benign |
Het |
| Slc33a1 |
T |
C |
3: 63,855,650 (GRCm39) |
T332A |
possibly damaging |
Het |
| Slc35d3 |
A |
G |
10: 19,724,909 (GRCm39) |
S316P |
probably benign |
Het |
| Spmip7 |
A |
G |
11: 11,438,641 (GRCm39) |
|
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,037,906 (GRCm39) |
|
probably benign |
Het |
| Srsf12 |
C |
T |
4: 33,230,974 (GRCm39) |
S156L |
probably damaging |
Het |
| Syce3 |
A |
G |
15: 89,274,606 (GRCm39) |
M49T |
probably benign |
Het |
| Tjp3 |
T |
C |
10: 81,112,094 (GRCm39) |
|
probably benign |
Het |
| Tnks |
G |
T |
8: 35,342,430 (GRCm39) |
N373K |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,013,847 (GRCm39) |
N366S |
possibly damaging |
Het |
| Trpm1 |
G |
A |
7: 63,890,283 (GRCm39) |
R962H |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,854,995 (GRCm39) |
M1885L |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,471,221 (GRCm39) |
D1070G |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,546,421 (GRCm39) |
M3399T |
probably benign |
Het |
| Utp15 |
G |
A |
13: 98,393,695 (GRCm39) |
T196I |
probably benign |
Het |
| Vmn1r168 |
T |
C |
7: 23,240,725 (GRCm39) |
I194T |
probably benign |
Het |
| Vmn2r73 |
C |
T |
7: 85,525,120 (GRCm39) |
W9* |
probably null |
Het |
| Wdr17 |
T |
C |
8: 55,092,930 (GRCm39) |
Y1076C |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,382,092 (GRCm39) |
T5152A |
unknown |
Het |
| Zbtb46 |
A |
T |
2: 181,066,042 (GRCm39) |
V36E |
possibly damaging |
Het |
| Zfp558 |
T |
C |
9: 18,380,579 (GRCm39) |
I9M |
possibly damaging |
Het |
| Zscan2 |
T |
A |
7: 80,525,534 (GRCm39) |
Y418* |
probably null |
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 |
|
|
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 |
|
|
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'- AGCATACCGAGCCAGGACTGAATC -3'
(R):5'- TGCCCTTGGTCATGTCAAACACTTC -3'
Sequencing Primer
(F):5'- TTGTTAGAGAAACAGTGGACTCCC -3'
(R):5'- GGTCATGTCAAACACTTCCTCAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation