Incidental Mutation 'R7545:Myt1l'
| ID |
584180 |
| 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 |
045650-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7545 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
29578383-29973212 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29877087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 246
(R246Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058264
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021009]
[ENSMUST00000049784]
[ENSMUST00000218583]
|
| AlphaFold |
P97500 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000021009
AA Change: R246Q
|
| SMART Domains |
Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: R246Q
| 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: R246Q
|
| SMART Domains |
Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: R246Q
| 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: R246Q
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
T |
C |
5: 107,696,040 (GRCm39) |
Y159H |
probably damaging |
Het |
| A1cf |
A |
T |
19: 31,912,190 (GRCm39) |
N435I |
possibly damaging |
Het |
| Aasdh |
A |
T |
5: 77,027,861 (GRCm39) |
F849I |
probably damaging |
Het |
| Aatf |
A |
T |
11: 84,361,502 (GRCm39) |
M367K |
probably benign |
Het |
| Acnat1 |
A |
T |
4: 49,449,142 (GRCm39) |
L208* |
probably null |
Het |
| Adam26b |
C |
T |
8: 43,974,750 (GRCm39) |
G84D |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 85,683,092 (GRCm39) |
E54D |
probably damaging |
Het |
| Ang6 |
T |
G |
14: 44,239,636 (GRCm39) |
I31L |
probably benign |
Het |
| Asic4 |
A |
G |
1: 75,449,060 (GRCm39) |
N403S |
probably damaging |
Het |
| Bicd1 |
G |
A |
6: 149,414,990 (GRCm39) |
V568M |
probably benign |
Het |
| Ccdc192 |
A |
G |
18: 57,863,895 (GRCm39) |
E233G |
probably damaging |
Het |
| Cfap45 |
A |
T |
1: 172,366,163 (GRCm39) |
M339L |
probably benign |
Het |
| Cnga4 |
A |
G |
7: 105,056,286 (GRCm39) |
D399G |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,028,897 (GRCm39) |
R17W |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,894,939 (GRCm39) |
F3636S |
probably damaging |
Het |
| Dscaml1 |
A |
T |
9: 45,596,681 (GRCm39) |
T842S |
probably benign |
Het |
| Ets2 |
C |
A |
16: 95,516,127 (GRCm39) |
Q236K |
probably benign |
Het |
| Ext2 |
C |
A |
2: 93,644,108 (GRCm39) |
V58L |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,322,359 (GRCm39) |
K1269E |
possibly damaging |
Het |
| Fech |
A |
G |
18: 64,597,185 (GRCm39) |
L258P |
probably damaging |
Het |
| Gls |
A |
G |
1: 52,230,311 (GRCm39) |
S467P |
probably damaging |
Het |
| Gm19410 |
T |
A |
8: 36,269,779 (GRCm39) |
D1141E |
probably damaging |
Het |
| Gm45861 |
T |
G |
8: 28,071,032 (GRCm39) |
M1246R |
unknown |
Het |
| Gm6902 |
T |
A |
7: 22,973,087 (GRCm39) |
I147L |
probably benign |
Het |
| Itga7 |
G |
T |
10: 128,769,775 (GRCm39) |
|
probably benign |
Het |
| Itpripl1 |
A |
T |
2: 126,983,581 (GRCm39) |
C180* |
probably null |
Het |
| Klhl33 |
C |
A |
14: 51,130,631 (GRCm39) |
V28F |
probably damaging |
Het |
| Kmo |
A |
T |
1: 175,481,194 (GRCm39) |
D304V |
probably damaging |
Het |
| Mier2 |
T |
C |
10: 79,377,028 (GRCm39) |
N537S |
possibly damaging |
Het |
| Mroh9 |
A |
G |
1: 162,902,277 (GRCm39) |
I112T |
possibly damaging |
Het |
| Mterf1a |
T |
A |
5: 3,940,995 (GRCm39) |
E291V |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,362,405 (GRCm39) |
N1905K |
unknown |
Het |
| Nav2 |
A |
G |
7: 49,232,605 (GRCm39) |
E1854G |
probably damaging |
Het |
| Nelfcd |
A |
G |
2: 174,265,771 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
A |
11: 79,300,350 (GRCm39) |
D287E |
probably benign |
Het |
| Nfyc |
T |
C |
4: 120,630,966 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,929,725 (GRCm39) |
D5163E |
probably damaging |
Het |
| Or10d4c |
C |
T |
9: 39,558,403 (GRCm39) |
P127L |
probably damaging |
Het |
| Or8g28 |
T |
A |
9: 39,169,984 (GRCm39) |
|
probably null |
Het |
| Plppr1 |
A |
T |
4: 49,320,002 (GRCm39) |
L209F |
possibly damaging |
Het |
| Pmm1 |
T |
C |
15: 81,835,803 (GRCm39) |
D226G |
probably damaging |
Het |
| Polr1b |
T |
A |
2: 128,959,766 (GRCm39) |
|
probably null |
Het |
| Ppp2r5a |
A |
G |
1: 191,104,806 (GRCm39) |
V80A |
probably benign |
Het |
| Pramel17 |
T |
A |
4: 101,695,159 (GRCm39) |
I51L |
probably benign |
Het |
| Psrc1 |
A |
G |
3: 108,293,759 (GRCm39) |
|
probably null |
Het |
| Ralbp1 |
T |
C |
17: 66,174,593 (GRCm39) |
T60A |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 157,020,339 (GRCm39) |
S217T |
possibly damaging |
Het |
| Rnase12 |
A |
G |
14: 51,294,395 (GRCm39) |
F95L |
probably damaging |
Het |
| Rnf152 |
A |
T |
1: 105,211,957 (GRCm39) |
I200K |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,134 (GRCm39) |
|
probably benign |
Het |
| Ryk |
C |
T |
9: 102,765,672 (GRCm39) |
T327I |
probably damaging |
Het |
| Sell |
A |
T |
1: 163,892,903 (GRCm39) |
T40S |
probably benign |
Het |
| Slc15a2 |
G |
A |
16: 36,595,964 (GRCm39) |
H153Y |
probably damaging |
Het |
| Slit3 |
A |
G |
11: 35,591,139 (GRCm39) |
D1317G |
possibly damaging |
Het |
| Slx4 |
G |
A |
16: 3,817,164 (GRCm39) |
T19M |
probably benign |
Het |
| Spata31 |
C |
T |
13: 65,070,359 (GRCm39) |
R836* |
probably null |
Het |
| Specc1l |
T |
C |
10: 75,080,921 (GRCm39) |
S106P |
probably benign |
Het |
| Speer1a |
C |
A |
5: 11,394,884 (GRCm39) |
Q124K |
possibly damaging |
Het |
| Stc2 |
T |
C |
11: 31,317,799 (GRCm39) |
N74S |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,674,543 (GRCm39) |
S498T |
probably damaging |
Het |
| Sva |
C |
T |
6: 42,019,148 (GRCm39) |
T106I |
probably benign |
Het |
| Tle3 |
T |
A |
9: 61,301,984 (GRCm39) |
L131Q |
possibly damaging |
Het |
| Tmem135 |
T |
A |
7: 88,954,727 (GRCm39) |
R97W |
probably damaging |
Het |
| Tmx4 |
A |
G |
2: 134,451,425 (GRCm39) |
L176S |
possibly damaging |
Het |
| Tomm20l |
C |
A |
12: 71,164,171 (GRCm39) |
|
probably null |
Het |
| Topors |
A |
T |
4: 40,262,173 (GRCm39) |
F370L |
possibly damaging |
Het |
| Ulk4 |
T |
C |
9: 120,970,904 (GRCm39) |
T1023A |
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,094,153 (GRCm39) |
|
probably null |
Het |
| Urb2 |
T |
C |
8: 124,756,491 (GRCm39) |
S733P |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,591,060 (GRCm39) |
D750G |
|
Het |
| Xylt1 |
G |
A |
7: 117,192,812 (GRCm39) |
D373N |
probably benign |
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 |
|
|
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 |
|
|
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'- TCGAATAATGCAGGACACAGAC -3'
(R):5'- AAAGCACTGGTTCCTCAGGC -3'
Sequencing Primer
(F):5'- CACAGACAAGGATGATAACAACAATG -3'
(R):5'- GGTTCCTCAGGCACTCTAGAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation