Incidental Mutation 'R5249:Myt1l'
ID |
398858 |
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 |
042820-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5249 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
29578383-29973212 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 29882331 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 509
(G509R)
|
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: G509R
|
SMART Domains |
Protein: ENSMUSP00000021009 Gene: ENSMUSG00000061911 AA Change: G509R
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: G511R
|
SMART Domains |
Protein: ENSMUSP00000058264 Gene: ENSMUSG00000061911 AA Change: G511R
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: G509R
|
Meta Mutation Damage Score |
0.6392 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (93/95) |
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
A |
G |
9: 99,502,284 (GRCm39) |
H148R |
probably damaging |
Het |
Acrbp |
A |
G |
6: 125,037,885 (GRCm39) |
D394G |
probably damaging |
Het |
Adam18 |
T |
C |
8: 25,115,868 (GRCm39) |
T609A |
probably benign |
Het |
Adam25 |
T |
A |
8: 41,208,991 (GRCm39) |
N752K |
probably benign |
Het |
Ano6 |
A |
C |
15: 95,811,469 (GRCm39) |
S176R |
probably benign |
Het |
Ano7 |
T |
C |
1: 93,302,918 (GRCm39) |
S19P |
probably benign |
Het |
Ap1b1 |
A |
G |
11: 4,976,364 (GRCm39) |
E437G |
probably damaging |
Het |
Arfgap2 |
T |
A |
2: 91,095,982 (GRCm39) |
C46* |
probably null |
Het |
Arhgef26 |
T |
A |
3: 62,247,981 (GRCm39) |
L355Q |
probably damaging |
Het |
B4galnt4 |
C |
T |
7: 140,644,983 (GRCm39) |
T219I |
probably damaging |
Het |
Bap1 |
C |
T |
14: 30,979,243 (GRCm39) |
|
probably benign |
Het |
Catip |
T |
G |
1: 74,401,954 (GRCm39) |
L43R |
probably damaging |
Het |
Ccdc177 |
G |
A |
12: 80,805,282 (GRCm39) |
R331C |
unknown |
Het |
Cep85l |
T |
C |
10: 53,195,690 (GRCm39) |
|
probably null |
Het |
Cfap206 |
T |
A |
4: 34,714,502 (GRCm39) |
Q398L |
probably benign |
Het |
Clec18a |
A |
G |
8: 111,800,368 (GRCm39) |
C352R |
probably damaging |
Het |
Clic6 |
A |
T |
16: 92,336,339 (GRCm39) |
Y549F |
probably damaging |
Het |
Cpne9 |
C |
T |
6: 113,270,034 (GRCm39) |
|
probably benign |
Het |
Cyb5r3 |
A |
C |
15: 83,042,836 (GRCm39) |
|
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,090,471 (GRCm39) |
R2293K |
probably damaging |
Het |
Dnmbp |
C |
A |
19: 43,890,879 (GRCm39) |
R296L |
probably damaging |
Het |
Dtwd1 |
C |
A |
2: 125,996,694 (GRCm39) |
Q60K |
probably benign |
Het |
Esyt1 |
C |
A |
10: 128,352,443 (GRCm39) |
V723L |
probably benign |
Het |
Fbxo42 |
T |
C |
4: 140,926,335 (GRCm39) |
L339P |
probably damaging |
Het |
Furin |
A |
T |
7: 80,043,169 (GRCm39) |
N347K |
probably damaging |
Het |
Fzd7 |
T |
C |
1: 59,522,522 (GRCm39) |
M135T |
probably damaging |
Het |
Garin1b |
A |
G |
6: 29,323,896 (GRCm39) |
D207G |
probably damaging |
Het |
Hlf |
A |
G |
11: 90,278,632 (GRCm39) |
M144T |
probably benign |
Het |
Hyal5 |
C |
T |
6: 24,876,648 (GRCm39) |
Q174* |
probably null |
Het |
Kcnb1 |
T |
A |
2: 166,947,103 (GRCm39) |
M582L |
possibly damaging |
Het |
Kdm5d |
T |
C |
Y: 916,692 (GRCm39) |
Y391H |
probably damaging |
Het |
Khdc4 |
T |
A |
3: 88,604,032 (GRCm39) |
I283N |
probably damaging |
Het |
Kif21b |
C |
T |
1: 136,096,966 (GRCm39) |
T1297M |
probably damaging |
Het |
Krt8 |
T |
G |
15: 101,906,875 (GRCm39) |
N317T |
possibly damaging |
Het |
Lctl |
G |
T |
9: 64,045,196 (GRCm39) |
V372L |
probably benign |
Het |
Lig1 |
C |
T |
7: 13,042,432 (GRCm39) |
H822Y |
possibly damaging |
Het |
Lrrc4b |
A |
G |
7: 44,111,988 (GRCm39) |
D620G |
possibly damaging |
Het |
Mboat4 |
C |
T |
8: 34,582,275 (GRCm39) |
H10Y |
probably benign |
Het |
Med1 |
A |
T |
11: 98,048,066 (GRCm39) |
M910K |
probably benign |
Het |
Mia2 |
A |
T |
12: 59,154,911 (GRCm39) |
D209V |
probably damaging |
Het |
Mpp4 |
C |
T |
1: 59,184,017 (GRCm39) |
|
probably benign |
Het |
Mrgprb1 |
A |
T |
7: 48,097,225 (GRCm39) |
V229E |
possibly damaging |
Het |
Mtor |
T |
A |
4: 148,548,189 (GRCm39) |
C485S |
probably damaging |
Het |
Mx1 |
T |
C |
16: 97,258,628 (GRCm39) |
D23G |
probably damaging |
Het |
Myrfl |
T |
C |
10: 116,619,138 (GRCm39) |
D740G |
probably benign |
Het |
Nav2 |
G |
A |
7: 49,185,661 (GRCm39) |
V874I |
probably damaging |
Het |
Ntrk3 |
A |
T |
7: 78,110,914 (GRCm39) |
N262K |
possibly damaging |
Het |
Opa1 |
A |
T |
16: 29,437,077 (GRCm39) |
D699V |
probably damaging |
Het |
Or10u4 |
C |
T |
10: 129,802,078 (GRCm39) |
A164T |
probably benign |
Het |
Or8b51 |
A |
G |
9: 38,569,374 (GRCm39) |
C105R |
possibly damaging |
Het |
Otud7a |
A |
G |
7: 63,407,181 (GRCm39) |
N495D |
possibly damaging |
Het |
Pcsk9 |
T |
C |
4: 106,320,950 (GRCm39) |
D53G |
probably benign |
Het |
Pdcd5 |
A |
G |
7: 35,346,421 (GRCm39) |
|
probably benign |
Het |
Phf21a |
C |
T |
2: 92,058,822 (GRCm39) |
P28L |
probably damaging |
Het |
Pitpnm1 |
T |
A |
19: 4,158,130 (GRCm39) |
D573E |
probably damaging |
Het |
Ppp1r35 |
C |
T |
5: 137,777,406 (GRCm39) |
|
probably benign |
Het |
Ptprq |
T |
C |
10: 107,535,496 (GRCm39) |
Q423R |
probably damaging |
Het |
Pum1 |
A |
T |
4: 130,490,125 (GRCm39) |
Y699F |
probably benign |
Het |
Rabgef1 |
A |
G |
5: 130,241,841 (GRCm39) |
D415G |
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,413,943 (GRCm39) |
E23G |
probably benign |
Het |
Rpia |
G |
T |
6: 70,760,563 (GRCm39) |
C121* |
probably null |
Het |
Sanbr |
A |
G |
11: 23,525,483 (GRCm39) |
*719Q |
probably null |
Het |
Serpinb13 |
T |
A |
1: 106,926,427 (GRCm39) |
W201R |
probably damaging |
Het |
Sh3bp4 |
T |
C |
1: 89,065,456 (GRCm39) |
C17R |
probably damaging |
Het |
Sh3d21 |
A |
G |
4: 126,055,858 (GRCm39) |
|
probably benign |
Het |
Slamf6 |
A |
C |
1: 171,764,249 (GRCm39) |
N214T |
probably damaging |
Het |
Slc7a2 |
T |
C |
8: 41,361,130 (GRCm39) |
Y365H |
possibly damaging |
Het |
Sox18 |
T |
C |
2: 181,312,971 (GRCm39) |
|
probably null |
Het |
Spink7 |
A |
T |
18: 62,725,507 (GRCm39) |
F79I |
possibly damaging |
Het |
Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
Sspo |
A |
T |
6: 48,470,244 (GRCm39) |
H4561L |
probably damaging |
Het |
Tcaf1 |
T |
C |
6: 42,653,793 (GRCm39) |
K700R |
probably benign |
Het |
Tcf25 |
G |
T |
8: 124,115,372 (GRCm39) |
R203L |
probably damaging |
Het |
Tcp11 |
T |
C |
17: 28,290,757 (GRCm39) |
I201V |
possibly damaging |
Het |
Tex2 |
T |
C |
11: 106,437,615 (GRCm39) |
D685G |
unknown |
Het |
Themis |
G |
T |
10: 28,637,195 (GRCm39) |
E100* |
probably null |
Het |
Tmem52b |
G |
A |
6: 129,491,221 (GRCm39) |
|
probably null |
Het |
Tnr |
C |
T |
1: 159,512,226 (GRCm39) |
|
probably benign |
Het |
Tox3 |
T |
C |
8: 90,975,444 (GRCm39) |
I396V |
probably benign |
Het |
Tpm2 |
T |
A |
4: 43,514,828 (GRCm39) |
E269V |
probably benign |
Het |
Tulp1 |
C |
T |
17: 28,581,651 (GRCm39) |
|
probably benign |
Het |
Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
Ube2j2 |
A |
C |
4: 156,033,515 (GRCm39) |
K30Q |
possibly damaging |
Het |
Usp19 |
T |
A |
9: 108,369,807 (GRCm39) |
M1K |
probably null |
Het |
Vmn2r52 |
C |
A |
7: 9,910,197 (GRCm39) |
R6L |
probably benign |
Het |
Zbed4 |
G |
A |
15: 88,665,290 (GRCm39) |
V453M |
probably benign |
Het |
Zfp319 |
T |
C |
8: 96,055,099 (GRCm39) |
E368G |
probably benign |
Het |
Zfp366 |
A |
C |
13: 99,366,117 (GRCm39) |
E426A |
probably damaging |
Het |
Zfp687 |
A |
T |
3: 94,916,777 (GRCm39) |
I783N |
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 |
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 |
|
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'- CAGCTTATCATGTAACACACGGG -3'
(R):5'- TGCCATGAAGATGAGGTTGG -3'
Sequencing Primer
(F):5'- GCAAAAGCCTGCTGTCCCAG -3'
(R):5'- TTGGGGAAGGGATGATTGAC -3'
|
Posted On |
2016-07-06 |