Incidental Mutation 'R8944:Myt1l'
ID |
681187 |
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 |
068783-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8944 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
29578383-29973212 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29861564 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 115
(D115E)
|
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: D115E
|
SMART Domains |
Protein: ENSMUSP00000021009 Gene: ENSMUSG00000061911 AA Change: D115E
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: D115E
|
SMART Domains |
Protein: ENSMUSP00000058264 Gene: ENSMUSG00000061911 AA Change: D115E
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: D115E
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (88/88) |
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
A |
T |
11: 72,049,851 (GRCm39) |
|
probably benign |
Het |
A830018L16Rik |
A |
T |
1: 11,484,706 (GRCm39) |
|
probably benign |
Het |
Acox1 |
C |
T |
11: 116,066,040 (GRCm39) |
R454H |
probably damaging |
Het |
Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
Adam18 |
A |
G |
8: 25,164,703 (GRCm39) |
L4P |
probably damaging |
Het |
AI182371 |
A |
C |
2: 34,990,622 (GRCm39) |
L25R |
probably damaging |
Het |
Ankrd12 |
A |
C |
17: 66,277,195 (GRCm39) |
Y2026* |
probably null |
Het |
Atad5 |
C |
T |
11: 79,986,524 (GRCm39) |
T537M |
possibly damaging |
Het |
Atosa |
A |
G |
9: 74,911,562 (GRCm39) |
Y11C |
probably damaging |
Het |
Avil |
G |
T |
10: 126,846,455 (GRCm39) |
G420V |
probably damaging |
Het |
Bche |
A |
T |
3: 73,608,008 (GRCm39) |
F473I |
probably damaging |
Het |
Borcs5 |
T |
C |
6: 134,621,437 (GRCm39) |
|
probably null |
Het |
C4b |
T |
C |
17: 34,961,913 (GRCm39) |
Q111R |
probably benign |
Het |
Carmil2 |
T |
A |
8: 106,417,437 (GRCm39) |
I565N |
probably damaging |
Het |
Cd74 |
T |
C |
18: 60,943,127 (GRCm39) |
M155T |
probably damaging |
Het |
Chrnd |
G |
T |
1: 87,119,997 (GRCm39) |
R105L |
probably damaging |
Het |
Clpp |
G |
T |
17: 57,300,553 (GRCm39) |
E217* |
probably null |
Het |
Cpq |
T |
A |
15: 33,594,269 (GRCm39) |
Y427N |
probably damaging |
Het |
Crxos |
G |
A |
7: 15,636,900 (GRCm39) |
E54K |
possibly damaging |
Het |
Dcaf13 |
A |
G |
15: 39,001,612 (GRCm39) |
R307G |
possibly damaging |
Het |
Ddx55 |
A |
G |
5: 124,706,788 (GRCm39) |
D595G |
probably damaging |
Het |
Dld |
T |
A |
12: 31,390,868 (GRCm39) |
I193F |
possibly damaging |
Het |
Dnah11 |
T |
G |
12: 118,091,381 (GRCm39) |
E917A |
possibly damaging |
Het |
Dnai2 |
T |
A |
11: 114,641,302 (GRCm39) |
Y376N |
possibly damaging |
Het |
Dock7 |
A |
G |
4: 98,829,243 (GRCm39) |
Y2078H |
probably damaging |
Het |
Dusp4 |
A |
T |
8: 35,274,941 (GRCm39) |
N20I |
probably benign |
Het |
Dzank1 |
A |
G |
2: 144,333,729 (GRCm39) |
L367P |
probably benign |
Het |
Eea1 |
T |
A |
10: 95,832,822 (GRCm39) |
D222E |
probably damaging |
Het |
Erich3 |
G |
C |
3: 154,462,692 (GRCm39) |
R742S |
|
Het |
Erich6 |
C |
T |
3: 58,537,275 (GRCm39) |
M246I |
probably benign |
Het |
Galnt16 |
T |
G |
12: 80,623,314 (GRCm39) |
I158S |
probably damaging |
Het |
Gm28363 |
A |
G |
1: 117,655,080 (GRCm39) |
T100A |
possibly damaging |
Het |
Gm8257 |
A |
T |
14: 44,893,849 (GRCm39) |
Y36N |
probably damaging |
Het |
Gmpr2 |
T |
C |
14: 55,913,149 (GRCm39) |
V142A |
possibly damaging |
Het |
Grid2ip |
T |
C |
5: 143,366,260 (GRCm39) |
|
probably null |
Het |
Hamp2 |
A |
G |
7: 30,622,001 (GRCm39) |
F63L |
possibly damaging |
Het |
Hmga2 |
T |
C |
10: 120,309,159 (GRCm39) |
K66E |
probably damaging |
Het |
Hspa1a |
T |
C |
17: 35,190,019 (GRCm39) |
T295A |
probably benign |
Het |
Ift74 |
G |
A |
4: 94,510,128 (GRCm39) |
G53D |
probably damaging |
Het |
Ighv6-7 |
T |
C |
12: 114,419,703 (GRCm39) |
M1V |
probably null |
Het |
Ints4 |
T |
A |
7: 97,183,593 (GRCm39) |
D769E |
probably benign |
Het |
Kif7 |
G |
A |
7: 79,360,005 (GRCm39) |
R411C |
probably damaging |
Het |
Klhl30 |
T |
A |
1: 91,287,174 (GRCm39) |
Y487N |
probably damaging |
Het |
Kras |
T |
C |
6: 145,170,853 (GRCm39) |
E174G |
probably benign |
Het |
Krt84 |
T |
C |
15: 101,437,183 (GRCm39) |
I327V |
probably benign |
Het |
Lamb3 |
T |
A |
1: 193,014,525 (GRCm39) |
C561* |
probably null |
Het |
Lmbrd1 |
A |
G |
1: 24,767,407 (GRCm39) |
|
probably benign |
Het |
Lmnb1 |
T |
A |
18: 56,876,331 (GRCm39) |
S480T |
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,341,348 (GRCm39) |
G944D |
probably damaging |
Het |
Mta3 |
G |
A |
17: 84,083,146 (GRCm39) |
E280K |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,421,115 (GRCm39) |
I4236F |
|
Het |
Myh9 |
T |
C |
15: 77,655,432 (GRCm39) |
T1175A |
probably benign |
Het |
Naa25 |
A |
G |
5: 121,552,573 (GRCm39) |
N167D |
probably benign |
Het |
Ncam1 |
G |
A |
9: 49,431,493 (GRCm39) |
P648L |
probably damaging |
Het |
Or2t26 |
T |
C |
11: 49,039,266 (GRCm39) |
Y61H |
probably damaging |
Het |
Or2t44 |
A |
T |
11: 58,677,519 (GRCm39) |
D153V |
probably damaging |
Het |
P3h3 |
G |
T |
6: 124,832,196 (GRCm39) |
A230E |
possibly damaging |
Het |
Pacs2 |
A |
G |
12: 113,020,476 (GRCm39) |
E253G |
probably damaging |
Het |
Pbld1 |
A |
T |
10: 62,901,648 (GRCm39) |
D57V |
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,452,275 (GRCm39) |
T1077A |
probably damaging |
Het |
Pou4f2 |
T |
A |
8: 79,161,932 (GRCm39) |
M224L |
|
Het |
Ppcdc |
C |
T |
9: 57,342,265 (GRCm39) |
R19H |
probably benign |
Het |
Ppp1r10 |
T |
A |
17: 36,241,018 (GRCm39) |
M640K |
probably benign |
Het |
Prdx6 |
A |
T |
1: 161,069,432 (GRCm39) |
|
probably benign |
Het |
Rab40b |
A |
G |
11: 121,250,384 (GRCm39) |
|
probably null |
Het |
Rassf9 |
T |
A |
10: 102,381,329 (GRCm39) |
M237K |
probably benign |
Het |
Rbbp8nl |
G |
T |
2: 179,919,769 (GRCm39) |
Y604* |
probably null |
Het |
Reep2 |
G |
T |
18: 34,975,929 (GRCm39) |
W42L |
possibly damaging |
Het |
Serpinb6e |
A |
T |
13: 34,017,261 (GRCm39) |
M253K |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,623,927 (GRCm39) |
Q304R |
probably damaging |
Het |
Slk |
T |
C |
19: 47,600,057 (GRCm39) |
M120T |
probably damaging |
Het |
Spata31e5 |
T |
C |
1: 28,816,155 (GRCm39) |
I626V |
probably benign |
Het |
Sphkap |
T |
A |
1: 83,256,927 (GRCm39) |
H274L |
probably benign |
Het |
Stc1 |
T |
G |
14: 69,269,884 (GRCm39) |
F155V |
possibly damaging |
Het |
Tbc1d12 |
A |
G |
19: 38,899,510 (GRCm39) |
T477A |
probably damaging |
Het |
Tmem19 |
T |
A |
10: 115,183,671 (GRCm39) |
I54F |
possibly damaging |
Het |
Tmem62 |
G |
A |
2: 120,817,316 (GRCm39) |
|
probably null |
Het |
Ttc6 |
A |
T |
12: 57,689,826 (GRCm39) |
R505S |
|
Het |
Ttn |
G |
T |
2: 76,623,184 (GRCm39) |
R15418S |
probably damaging |
Het |
Ugt2a3 |
C |
A |
5: 87,473,417 (GRCm39) |
C500F |
possibly damaging |
Het |
Ugt2b35 |
T |
C |
5: 87,149,310 (GRCm39) |
F187S |
probably benign |
Het |
Ung |
T |
A |
5: 114,269,456 (GRCm39) |
I56N |
probably damaging |
Het |
Vmn1r17 |
G |
T |
6: 57,338,142 (GRCm39) |
F25L |
probably benign |
Het |
Vmn1r29 |
C |
A |
6: 58,284,274 (GRCm39) |
|
probably benign |
Het |
Vps26c |
T |
A |
16: 94,302,481 (GRCm39) |
I242F |
probably benign |
Het |
Wdhd1 |
T |
C |
14: 47,504,470 (GRCm39) |
D368G |
probably benign |
Het |
Wdr3 |
A |
T |
3: 100,057,259 (GRCm39) |
I448N |
probably damaging |
Het |
Wdr47 |
T |
A |
3: 108,550,480 (GRCm39) |
M835K |
possibly damaging |
Het |
Wt1 |
G |
A |
2: 104,957,584 (GRCm39) |
G10D |
possibly damaging |
Het |
Zdhhc19 |
G |
A |
16: 32,316,500 (GRCm39) |
G85D |
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 |
|
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 |
|
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'- GCTCTGATATCCAGGCAGTAAC -3'
(R):5'- CATGGCCTAAGCTTTGGGAG -3'
Sequencing Primer
(F):5'- TCCAGGCAGTAACATAAATATTTCTC -3'
(R):5'- GCCTAAGCTTTGGGAGTATTTAAAG -3'
|
Posted On |
2021-08-31 |