Incidental Mutation 'R4734:Myt1l'
| ID |
359185 |
| 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 |
041961-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4734 (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 C
at 29969925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 143
(I143T)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021009]
[ENSMUST00000049784]
[ENSMUST00000218583]
|
| AlphaFold |
P97500 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000021009
AA Change: I1102T
|
| SMART Domains |
Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: I1102T
| 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: I1104T
|
| SMART Domains |
Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: I1104T
| 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: I1102T
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219744
AA Change: I143T
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,603,961 (GRCm39) |
M1V |
probably null |
Het |
| Abcb11 |
T |
A |
2: 69,154,306 (GRCm39) |
T87S |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,129,328 (GRCm39) |
V210A |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,713,479 (GRCm39) |
S246P |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,432,720 (GRCm39) |
K222R |
probably benign |
Het |
| Cdhr18 |
T |
C |
14: 13,845,292 (GRCm38) |
N540S |
probably benign |
Het |
| Cfap96 |
A |
T |
8: 46,423,454 (GRCm39) |
M86K |
possibly damaging |
Het |
| Chsy3 |
C |
A |
18: 59,312,485 (GRCm39) |
F319L |
probably benign |
Het |
| Coro2b |
T |
C |
9: 62,333,860 (GRCm39) |
T345A |
probably benign |
Het |
| Cpb1 |
A |
G |
3: 20,317,876 (GRCm39) |
V216A |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,060,778 (GRCm39) |
I213V |
probably benign |
Het |
| Dcaf15 |
A |
G |
8: 84,824,357 (GRCm39) |
C586R |
probably benign |
Het |
| Ddr2 |
T |
A |
1: 169,825,657 (GRCm39) |
E314D |
probably benign |
Het |
| Dennd5a |
C |
T |
7: 109,495,543 (GRCm39) |
R1196H |
probably damaging |
Het |
| Dnah9 |
G |
A |
11: 65,724,941 (GRCm39) |
A4404V |
probably damaging |
Het |
| Dpf2 |
A |
G |
19: 5,957,027 (GRCm39) |
|
probably null |
Het |
| Eif2ak4 |
A |
T |
2: 118,252,568 (GRCm39) |
H302L |
probably damaging |
Het |
| Eif2d |
G |
T |
1: 131,092,889 (GRCm39) |
R399L |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,202,294 (GRCm39) |
V260A |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,161,192 (GRCm39) |
Y575N |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,521,244 (GRCm39) |
E74G |
possibly damaging |
Het |
| Gdpd2 |
G |
A |
X: 99,777,799 (GRCm39) |
M243I |
possibly damaging |
Het |
| Glra1 |
C |
A |
11: 55,427,210 (GRCm39) |
D42Y |
probably damaging |
Het |
| Gnl2 |
T |
C |
4: 124,934,811 (GRCm39) |
F156L |
probably benign |
Het |
| Gpr37 |
C |
A |
6: 25,689,085 (GRCm39) |
R4L |
possibly damaging |
Het |
| Hectd4 |
A |
T |
5: 121,480,040 (GRCm39) |
H2892L |
possibly damaging |
Het |
| Helb |
T |
C |
10: 119,920,754 (GRCm39) |
D1063G |
probably benign |
Het |
| Htr2c |
A |
G |
X: 145,976,793 (GRCm39) |
T163A |
probably benign |
Het |
| Impact |
T |
A |
18: 13,118,346 (GRCm39) |
H188Q |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lnx2 |
C |
T |
5: 146,965,947 (GRCm39) |
G391R |
probably damaging |
Het |
| Lrrc19 |
T |
C |
4: 94,526,586 (GRCm39) |
I324V |
probably benign |
Het |
| Lrrcc1 |
G |
T |
3: 14,627,345 (GRCm39) |
Q458H |
probably damaging |
Het |
| Maml3 |
A |
T |
3: 51,597,296 (GRCm39) |
D483E |
probably damaging |
Het |
| Mef2c |
T |
A |
13: 83,810,748 (GRCm39) |
*467R |
probably null |
Het |
| Mms19 |
T |
A |
19: 41,932,997 (GRCm39) |
S1031C |
probably damaging |
Het |
| Nuggc |
T |
C |
14: 65,860,679 (GRCm39) |
Y426H |
probably damaging |
Het |
| Oit3 |
A |
T |
10: 59,259,904 (GRCm39) |
C500S |
probably damaging |
Het |
| Oog2 |
T |
C |
4: 143,923,021 (GRCm39) |
S429P |
probably benign |
Het |
| Or4d1 |
T |
A |
11: 87,805,016 (GRCm39) |
T239S |
probably damaging |
Het |
| Or51f1 |
A |
G |
7: 102,506,186 (GRCm39) |
I101T |
probably damaging |
Het |
| Or5p1 |
A |
T |
7: 107,916,959 (GRCm39) |
N286I |
probably damaging |
Het |
| Or5p51 |
T |
C |
7: 107,444,635 (GRCm39) |
I102V |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,273,040 (GRCm39) |
D93G |
probably benign |
Het |
| Pdia5 |
A |
T |
16: 35,276,883 (GRCm39) |
M95K |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,668,133 (GRCm39) |
R762* |
probably null |
Het |
| Piezo1 |
G |
T |
8: 123,224,945 (GRCm39) |
Q654K |
probably damaging |
Het |
| Ppil3 |
A |
G |
1: 58,470,428 (GRCm39) |
Y141H |
probably benign |
Het |
| Prb1c |
T |
A |
6: 132,338,891 (GRCm39) |
N109I |
unknown |
Het |
| Rassf8 |
G |
T |
6: 145,761,266 (GRCm39) |
K197N |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,752,639 (GRCm39) |
Q1894R |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,740,847 (GRCm39) |
N487Y |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,368,604 (GRCm39) |
Y307C |
probably damaging |
Het |
| Sdad1 |
C |
T |
5: 92,452,836 (GRCm39) |
R134Q |
possibly damaging |
Het |
| Shroom1 |
C |
T |
11: 53,356,060 (GRCm39) |
S370F |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,552,105 (GRCm39) |
V313A |
probably benign |
Het |
| Slc2a9 |
C |
A |
5: 38,539,442 (GRCm39) |
G353C |
probably damaging |
Het |
| Snx33 |
T |
A |
9: 56,833,185 (GRCm39) |
T295S |
possibly damaging |
Het |
| Spata31d1b |
G |
A |
13: 59,866,172 (GRCm39) |
V1107M |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,115,509 (GRCm39) |
D761G |
probably benign |
Het |
| Tfeb |
T |
C |
17: 48,096,787 (GRCm39) |
V18A |
probably benign |
Het |
| Thap12 |
G |
T |
7: 98,365,161 (GRCm39) |
C443F |
probably damaging |
Het |
| Thap12 |
T |
A |
7: 98,365,162 (GRCm39) |
C443* |
probably null |
Het |
| Tmem67 |
T |
C |
4: 12,063,158 (GRCm39) |
D496G |
probably benign |
Het |
| Trappc8 |
G |
A |
18: 20,974,629 (GRCm39) |
R900* |
probably null |
Het |
| Trim9 |
T |
C |
12: 70,295,047 (GRCm39) |
N688D |
probably damaging |
Het |
| Trmt1l |
A |
T |
1: 151,318,388 (GRCm39) |
I80L |
probably benign |
Het |
| Trpm5 |
C |
A |
7: 142,636,522 (GRCm39) |
V472L |
probably benign |
Het |
| Tspear |
C |
T |
10: 77,700,529 (GRCm39) |
L120F |
probably damaging |
Het |
| Ttc9b |
G |
A |
7: 27,355,443 (GRCm39) |
V238M |
probably benign |
Het |
| Usp20 |
A |
G |
2: 30,909,836 (GRCm39) |
I819V |
probably benign |
Het |
| Vmn2r102 |
T |
A |
17: 19,897,795 (GRCm39) |
V270E |
probably damaging |
Het |
| Vmn2r63 |
C |
T |
7: 42,577,544 (GRCm39) |
M331I |
probably benign |
Het |
| Zc3h18 |
A |
T |
8: 123,110,382 (GRCm39) |
D77V |
probably damaging |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
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 |
|
|
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 |
|
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'- AGCAAGCAGTCAGTCAGAATAC -3'
(R):5'- TACTCAGTGAGGTGGACTGC -3'
Sequencing Primer
(F):5'- CATGGTCGCTGTAGCTAGTACC -3'
(R):5'- GTGGACTGCGGAGGCTC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation