Incidental Mutation 'R8923:Myt1l'
| ID |
679408 |
| 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 |
068768-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8923 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
29578383-29973212 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29960800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1038
(K1038E)
|
| 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: K1038E
|
| SMART Domains |
Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: K1038E
| 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: K1040E
|
| SMART Domains |
Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: K1040E
| 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: K1038E
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.1493 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (53/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano1 |
A |
G |
7: 144,204,288 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Ano6 |
T |
C |
15: 95,811,428 (GRCm39) |
I176T |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,126,931 (GRCm39) |
E273G |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,412,304 (GRCm39) |
I1245T |
unknown |
Het |
| Ash1l |
T |
C |
3: 88,892,974 (GRCm39) |
S1618P |
possibly damaging |
Het |
| Atp5f1e |
G |
T |
2: 174,304,309 (GRCm39) |
S49* |
probably null |
Het |
| Bsdc1 |
C |
T |
4: 129,355,405 (GRCm39) |
|
probably benign |
Het |
| Ccni |
T |
C |
5: 93,335,943 (GRCm39) |
H152R |
probably damaging |
Het |
| Cdk5 |
A |
G |
5: 24,625,284 (GRCm39) |
V208A |
possibly damaging |
Het |
| Cmtm5 |
G |
A |
14: 55,176,345 (GRCm39) |
D137N |
probably damaging |
Het |
| Cyp3a41b |
A |
G |
5: 145,521,448 (GRCm39) |
M1T |
probably null |
Het |
| Cyp3a44 |
A |
T |
5: 145,736,171 (GRCm39) |
V93E |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,478,309 (GRCm39) |
I241F |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,673,901 (GRCm39) |
T1114A |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,788,284 (GRCm39) |
I750M |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,168,515 (GRCm39) |
K398E |
probably benign |
Het |
| Efcab12 |
G |
C |
6: 115,787,982 (GRCm39) |
T660S |
possibly damaging |
Het |
| Ep400 |
A |
G |
5: 110,831,864 (GRCm39) |
L2126P |
unknown |
Het |
| Ercc1 |
T |
A |
7: 19,081,062 (GRCm39) |
|
probably benign |
Het |
| Flnc |
G |
T |
6: 29,452,236 (GRCm39) |
D1687Y |
probably damaging |
Het |
| Frrs1 |
A |
T |
3: 116,696,070 (GRCm39) |
I530F |
possibly damaging |
Het |
| Gp5 |
G |
T |
16: 30,128,222 (GRCm39) |
L151I |
probably damaging |
Het |
| H2-Q5 |
A |
G |
17: 35,613,982 (GRCm39) |
D177G |
|
Het |
| Itgal |
A |
T |
7: 126,895,533 (GRCm39) |
|
probably benign |
Het |
| Klhl33 |
A |
T |
14: 51,129,882 (GRCm39) |
C277* |
probably null |
Het |
| Lefty1 |
T |
A |
1: 180,765,318 (GRCm39) |
C295* |
probably null |
Het |
| Lmo7 |
A |
T |
14: 102,137,679 (GRCm39) |
T794S |
probably benign |
Het |
| Mss51 |
A |
G |
14: 20,537,177 (GRCm39) |
M97T |
possibly damaging |
Het |
| Mtmr11 |
C |
T |
3: 96,072,188 (GRCm39) |
P262S |
probably damaging |
Het |
| Muc15 |
A |
T |
2: 110,562,212 (GRCm39) |
N216I |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,549,972 (GRCm39) |
D5440E |
probably benign |
Het |
| Naa15 |
G |
A |
3: 51,367,443 (GRCm39) |
V539M |
probably damaging |
Het |
| Or10al2 |
A |
T |
17: 37,983,702 (GRCm39) |
I263F |
probably benign |
Het |
| Or1e26 |
T |
C |
11: 73,480,076 (GRCm39) |
I163V |
probably benign |
Het |
| Or5ac20 |
G |
C |
16: 59,104,399 (GRCm39) |
L154V |
probably benign |
Het |
| Parpbp |
C |
T |
10: 87,947,474 (GRCm39) |
V387I |
probably benign |
Het |
| Pbxip1 |
T |
C |
3: 89,352,921 (GRCm39) |
I189T |
possibly damaging |
Het |
| Prkci |
T |
A |
3: 31,095,250 (GRCm39) |
Y111* |
probably null |
Het |
| Prkd2 |
C |
G |
7: 16,599,682 (GRCm39) |
T715R |
probably damaging |
Het |
| Rab40c |
A |
C |
17: 26,102,664 (GRCm39) |
S262A |
probably benign |
Het |
| Rad51d |
A |
G |
11: 82,773,798 (GRCm39) |
L164P |
probably damaging |
Het |
| Rgs22 |
T |
A |
15: 36,093,106 (GRCm39) |
K513I |
probably damaging |
Het |
| Rubcn |
G |
T |
16: 32,646,049 (GRCm39) |
T828K |
probably damaging |
Het |
| Sdha |
G |
A |
13: 74,487,179 (GRCm39) |
T203M |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,217,562 (GRCm39) |
|
probably null |
Het |
| Spag8 |
T |
A |
4: 43,651,471 (GRCm39) |
T468S |
probably damaging |
Het |
| Spdl1 |
T |
C |
11: 34,704,478 (GRCm39) |
K452E |
possibly damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,308 (GRCm39) |
F597S |
|
Het |
| Sult1b1 |
A |
C |
5: 87,662,893 (GRCm39) |
F269C |
probably damaging |
Het |
| Ubap1 |
A |
G |
4: 41,379,170 (GRCm39) |
N128S |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,627,604 (GRCm39) |
Q954* |
probably null |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,768 (GRCm39) |
M1K |
probably null |
Het |
| Wdfy1 |
A |
G |
1: 79,684,017 (GRCm39) |
S373P |
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 |
|
|
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 |
|
|
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'- GCACCACGGATCTGCATTTC -3'
(R):5'- AGTCACTGATACAGAACTGGCATAC -3'
Sequencing Primer
(F):5'- CCTGGAACTTACTTTGTAGACCAGG -3'
(R):5'- TGGCATACAGTGACATCTGAC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation