Incidental Mutation 'R4786:Myt1l'
ID |
367116 |
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 |
041995-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4786 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
29578383-29973212 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 29861457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 80
(V80L)
|
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: V80L
|
SMART Domains |
Protein: ENSMUSP00000021009 Gene: ENSMUSG00000061911 AA Change: V80L
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: V80L
|
SMART Domains |
Protein: ENSMUSP00000058264 Gene: ENSMUSG00000061911 AA Change: V80L
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: V80L
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700097O09Rik |
A |
T |
12: 55,106,321 (GRCm39) |
I134N |
possibly damaging |
Het |
Acvr1c |
T |
C |
2: 58,170,366 (GRCm39) |
Y414C |
probably damaging |
Het |
Adam32 |
A |
C |
8: 25,353,509 (GRCm39) |
S693R |
probably damaging |
Het |
Aldh2 |
A |
T |
5: 121,710,887 (GRCm39) |
F314Y |
probably benign |
Het |
Anks1 |
A |
G |
17: 28,271,704 (GRCm39) |
D874G |
possibly damaging |
Het |
Ap4b1 |
T |
A |
3: 103,726,120 (GRCm39) |
V372E |
probably benign |
Het |
Aqp12 |
G |
A |
1: 92,934,177 (GRCm39) |
C18Y |
probably damaging |
Het |
Arap1 |
T |
A |
7: 101,034,212 (GRCm39) |
I218N |
possibly damaging |
Het |
Arhgap42 |
C |
A |
9: 9,238,703 (GRCm39) |
E28* |
probably null |
Het |
Asb5 |
G |
A |
8: 55,038,874 (GRCm39) |
E247K |
probably benign |
Het |
Atg9b |
T |
C |
5: 24,591,087 (GRCm39) |
D781G |
possibly damaging |
Het |
Atxn10 |
A |
G |
15: 85,271,344 (GRCm39) |
H294R |
probably benign |
Het |
Bod1l |
G |
T |
5: 41,976,781 (GRCm39) |
T1511K |
probably benign |
Het |
Btnl2 |
A |
T |
17: 34,582,322 (GRCm39) |
N296I |
probably damaging |
Het |
Camta1 |
A |
T |
4: 151,374,496 (GRCm39) |
L168H |
probably damaging |
Het |
Cant1 |
A |
T |
11: 118,299,665 (GRCm39) |
V265E |
possibly damaging |
Het |
Ccdc157 |
T |
C |
11: 4,101,861 (GRCm39) |
D20G |
probably damaging |
Het |
Cd209c |
T |
G |
8: 3,995,698 (GRCm39) |
T35P |
possibly damaging |
Het |
Cdc20b |
G |
A |
13: 113,215,268 (GRCm39) |
V279M |
probably damaging |
Het |
Cdh18 |
T |
A |
15: 23,410,873 (GRCm39) |
W453R |
probably null |
Het |
Cdh24 |
A |
G |
14: 54,875,007 (GRCm39) |
S333P |
possibly damaging |
Het |
Ceacam11 |
T |
C |
7: 17,706,239 (GRCm39) |
|
probably null |
Het |
Ciz1 |
C |
T |
2: 32,267,539 (GRCm39) |
P150L |
probably damaging |
Het |
Crip3 |
C |
A |
17: 46,741,968 (GRCm39) |
Q152K |
possibly damaging |
Het |
Dars2 |
G |
A |
1: 160,888,330 (GRCm39) |
R197W |
probably damaging |
Het |
Dctn4 |
A |
G |
18: 60,688,267 (GRCm39) |
D394G |
probably damaging |
Het |
Dido1 |
T |
C |
2: 180,312,664 (GRCm39) |
Y1077C |
possibly damaging |
Het |
Dnhd1 |
A |
G |
7: 105,323,651 (GRCm39) |
T641A |
probably benign |
Het |
Egln3 |
A |
T |
12: 54,232,367 (GRCm39) |
I146N |
probably damaging |
Het |
Eif2ak3 |
C |
T |
6: 70,869,602 (GRCm39) |
T763M |
possibly damaging |
Het |
Etfbkmt |
A |
T |
6: 149,048,744 (GRCm39) |
M1L |
probably benign |
Het |
Fam171a1 |
A |
T |
2: 3,226,615 (GRCm39) |
I583F |
probably damaging |
Het |
Fbxo38 |
A |
C |
18: 62,662,745 (GRCm39) |
L249W |
probably damaging |
Het |
Fxyd5 |
T |
C |
7: 30,740,907 (GRCm39) |
|
probably benign |
Het |
Gabrr3 |
C |
A |
16: 59,250,463 (GRCm39) |
T154K |
probably benign |
Het |
Gm7233 |
C |
A |
14: 43,038,347 (GRCm39) |
D90E |
probably benign |
Het |
Gm8186 |
A |
G |
17: 26,318,014 (GRCm39) |
V61A |
probably benign |
Het |
Gnao1 |
A |
G |
8: 94,670,931 (GRCm39) |
I137V |
probably benign |
Het |
Gnptab |
A |
G |
10: 88,272,044 (GRCm39) |
M945V |
probably damaging |
Het |
Gpsm1 |
G |
A |
2: 26,212,493 (GRCm39) |
A78T |
probably benign |
Het |
Gtf2b |
T |
C |
3: 142,487,230 (GRCm39) |
L222P |
probably damaging |
Het |
Hnrnpf |
A |
G |
6: 117,900,857 (GRCm39) |
Y47C |
probably damaging |
Het |
Itga6 |
A |
G |
2: 71,669,034 (GRCm39) |
N608S |
possibly damaging |
Het |
Kdm2b |
T |
C |
5: 123,018,917 (GRCm39) |
|
probably null |
Het |
Krit1 |
T |
A |
5: 3,862,467 (GRCm39) |
H207Q |
possibly damaging |
Het |
Ky |
A |
G |
9: 102,419,186 (GRCm39) |
N398D |
probably benign |
Het |
Lama1 |
T |
A |
17: 68,080,854 (GRCm39) |
V1294E |
possibly damaging |
Het |
Lef1 |
C |
T |
3: 130,905,173 (GRCm39) |
T18I |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,368,300 (GRCm39) |
N178S |
probably damaging |
Het |
Lrrc36 |
A |
G |
8: 106,181,910 (GRCm39) |
T525A |
probably benign |
Het |
Map3k8 |
A |
T |
18: 4,340,647 (GRCm39) |
C222* |
probably null |
Het |
Mapre2 |
G |
C |
18: 24,011,016 (GRCm39) |
S199T |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,324,300 (GRCm39) |
N911S |
probably benign |
Het |
Mroh4 |
G |
T |
15: 74,482,083 (GRCm39) |
H722Q |
probably benign |
Het |
Muc21 |
A |
T |
17: 35,930,221 (GRCm39) |
|
probably benign |
Het |
Myo5b |
A |
C |
18: 74,828,451 (GRCm39) |
Y701S |
probably benign |
Het |
Ncoa7 |
C |
A |
10: 30,531,638 (GRCm39) |
V24L |
probably benign |
Het |
Nlrp10 |
A |
T |
7: 108,524,445 (GRCm39) |
V345D |
probably damaging |
Het |
Nmral1 |
C |
A |
16: 4,534,288 (GRCm39) |
G51V |
probably damaging |
Het |
Npc1 |
A |
G |
18: 12,332,554 (GRCm39) |
I797T |
probably benign |
Het |
Or4x6 |
A |
T |
2: 89,949,351 (GRCm39) |
I197N |
possibly damaging |
Het |
Or8g22 |
T |
A |
9: 38,958,783 (GRCm39) |
R22* |
probably null |
Het |
Or8g34 |
A |
T |
9: 39,373,137 (GRCm39) |
I134L |
probably benign |
Het |
Pclo |
A |
T |
5: 14,773,281 (GRCm39) |
I4419F |
unknown |
Het |
Phf3 |
C |
A |
1: 30,855,638 (GRCm39) |
E983* |
probably null |
Het |
Pitpnm2 |
A |
T |
5: 124,259,806 (GRCm39) |
Y1149* |
probably null |
Het |
Sdc3 |
A |
T |
4: 130,550,079 (GRCm39) |
T430S |
probably damaging |
Het |
Sema3f |
A |
G |
9: 107,559,881 (GRCm39) |
V671A |
probably benign |
Het |
Sigirr |
T |
G |
7: 140,671,346 (GRCm39) |
S379R |
probably benign |
Het |
Slc25a23 |
T |
A |
17: 57,354,326 (GRCm39) |
N360I |
possibly damaging |
Het |
Slco6c1 |
A |
T |
1: 97,015,720 (GRCm39) |
M357K |
probably benign |
Het |
Sox14 |
C |
A |
9: 99,757,018 (GRCm39) |
M240I |
probably benign |
Het |
Stradb |
A |
T |
1: 59,030,367 (GRCm39) |
|
probably benign |
Het |
Szt2 |
A |
T |
4: 118,256,259 (GRCm39) |
M200K |
probably benign |
Het |
Tef |
T |
C |
15: 81,699,453 (GRCm39) |
S85P |
probably benign |
Het |
Thada |
T |
A |
17: 84,766,283 (GRCm39) |
H41L |
possibly damaging |
Het |
Tinagl1 |
A |
G |
4: 130,067,724 (GRCm39) |
F90S |
probably benign |
Het |
Tnfaip1 |
G |
A |
11: 78,421,045 (GRCm39) |
T5I |
possibly damaging |
Het |
Tnfrsf23 |
A |
T |
7: 143,233,801 (GRCm39) |
V59D |
probably damaging |
Het |
Tnpo3 |
A |
G |
6: 29,578,541 (GRCm39) |
V311A |
probably benign |
Het |
Trak1 |
T |
A |
9: 121,301,560 (GRCm39) |
M772K |
probably benign |
Het |
Ubash3a |
A |
G |
17: 31,436,938 (GRCm39) |
D185G |
probably benign |
Het |
Vmn2r120 |
T |
C |
17: 57,829,048 (GRCm39) |
T516A |
probably benign |
Het |
Wdr4 |
A |
C |
17: 31,728,785 (GRCm39) |
L130R |
probably damaging |
Het |
Zfp12 |
T |
C |
5: 143,231,257 (GRCm39) |
I528T |
probably damaging |
Het |
Zfp607a |
T |
C |
7: 27,578,838 (GRCm39) |
L636P |
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 |
|
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 |
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'- TCAATCCCGAATATATGCAAGGC -3'
(R):5'- GGCCTAAGCTTTGGGAGTATTTAAAG -3'
Sequencing Primer
(F):5'- TGCAAGGCATCCCATTGC -3'
(R):5'- AGCTTTGGGAGTATTTAAAGATTACC -3'
|
Posted On |
2015-12-29 |