Incidental Mutation 'R4980:Myt1l'
| ID |
384764 |
| 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 |
042575-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4980 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
29578383-29973212 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29877038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 230
(T230S)
|
| 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: T230S
|
| SMART Domains |
Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: T230S
| 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: T230S
|
| SMART Domains |
Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: T230S
| 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: T230S
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,885,292 (GRCm39) |
C189S |
probably damaging |
Het |
| Abcd3 |
A |
T |
3: 121,562,917 (GRCm39) |
|
probably null |
Het |
| Adar |
T |
C |
3: 89,638,121 (GRCm39) |
S2P |
probably benign |
Het |
| Amhr2 |
T |
A |
15: 102,362,765 (GRCm39) |
S511T |
probably benign |
Het |
| Atg16l1 |
T |
C |
1: 87,694,553 (GRCm39) |
S77P |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 36,997,461 (GRCm39) |
S1173P |
probably damaging |
Het |
| Cacna1i |
T |
C |
15: 80,232,650 (GRCm39) |
F218L |
probably damaging |
Het |
| Cd5l |
A |
T |
3: 87,274,908 (GRCm39) |
H149L |
probably benign |
Het |
| Cdc14a |
T |
A |
3: 116,186,506 (GRCm39) |
R92* |
probably null |
Het |
| Col19a1 |
T |
C |
1: 24,565,564 (GRCm39) |
T256A |
unknown |
Het |
| Col22a1 |
C |
T |
15: 71,673,792 (GRCm39) |
A975T |
unknown |
Het |
| Cracd |
A |
T |
5: 77,005,421 (GRCm39) |
D594V |
unknown |
Het |
| Cyp20a1 |
T |
C |
1: 60,402,373 (GRCm39) |
W153R |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dpyd |
T |
C |
3: 118,710,767 (GRCm39) |
S392P |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,295,369 (GRCm39) |
L957F |
probably damaging |
Het |
| Emilin2 |
G |
T |
17: 71,560,066 (GRCm39) |
D970E |
possibly damaging |
Het |
| Fbn2 |
T |
C |
18: 58,143,703 (GRCm39) |
E2784G |
probably benign |
Het |
| Fbxw10 |
T |
C |
11: 62,738,583 (GRCm39) |
I159T |
possibly damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,802,810 (GRCm39) |
Y192C |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,736,198 (GRCm39) |
|
probably null |
Het |
| Igf2r |
C |
T |
17: 12,922,247 (GRCm39) |
|
probably null |
Het |
| Ints4 |
T |
C |
7: 97,151,057 (GRCm39) |
|
probably null |
Het |
| Kcnf1 |
A |
G |
12: 17,225,012 (GRCm39) |
F403S |
possibly damaging |
Het |
| Kif11 |
C |
T |
19: 37,375,819 (GRCm39) |
Q211* |
probably null |
Het |
| Kif13a |
A |
G |
13: 46,906,222 (GRCm39) |
S574P |
possibly damaging |
Het |
| Kifc3 |
T |
A |
8: 95,853,177 (GRCm39) |
T60S |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,453,534 (GRCm39) |
D284G |
possibly damaging |
Het |
| Lancl1 |
T |
C |
1: 67,043,968 (GRCm39) |
Y344C |
probably benign |
Het |
| Ltbp3 |
A |
T |
19: 5,803,955 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
A |
G |
17: 12,490,958 (GRCm39) |
F158L |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,174,948 (GRCm39) |
Y469H |
probably damaging |
Het |
| Mcf2l |
T |
G |
8: 13,034,883 (GRCm39) |
F97C |
probably damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,438,904 (GRCm39) |
S121P |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,497,821 (GRCm39) |
|
probably null |
Het |
| Naa15 |
T |
C |
3: 51,366,173 (GRCm39) |
|
probably null |
Het |
| Nans |
G |
A |
4: 46,492,764 (GRCm39) |
R64Q |
probably benign |
Het |
| Nbea |
C |
T |
3: 55,554,772 (GRCm39) |
|
probably null |
Het |
| Nbea |
T |
C |
3: 55,860,466 (GRCm39) |
E1870G |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,974,591 (GRCm39) |
S688P |
probably damaging |
Het |
| Nedd4l |
G |
T |
18: 65,213,131 (GRCm39) |
E96* |
probably null |
Het |
| Or56a5 |
T |
A |
7: 104,793,431 (GRCm39) |
Y23F |
probably benign |
Het |
| Or5b21 |
A |
T |
19: 12,839,384 (GRCm39) |
M82L |
probably benign |
Het |
| Pdxk |
A |
G |
10: 78,287,318 (GRCm39) |
L81P |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,077,495 (GRCm39) |
R269* |
probably null |
Het |
| Plec |
T |
C |
15: 76,090,065 (GRCm39) |
I92V |
probably damaging |
Het |
| Ppara |
T |
C |
15: 85,671,434 (GRCm39) |
Y112H |
probably damaging |
Het |
| Ppp2r2c |
A |
T |
5: 37,109,732 (GRCm39) |
M364L |
probably benign |
Het |
| Prag1 |
A |
C |
8: 36,606,740 (GRCm39) |
H827P |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,154,421 (GRCm38) |
N714S |
probably benign |
Het |
| Rbp2 |
G |
A |
9: 98,380,894 (GRCm39) |
V67I |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,811,141 (GRCm39) |
Y835N |
probably damaging |
Het |
| Ripply2 |
A |
G |
9: 86,901,747 (GRCm39) |
Q91R |
probably damaging |
Het |
| Sap130 |
C |
A |
18: 31,782,699 (GRCm39) |
H203Q |
possibly damaging |
Het |
| Sema4d |
T |
C |
13: 51,865,270 (GRCm39) |
Y358C |
probably damaging |
Het |
| Serbp1 |
G |
A |
6: 67,254,872 (GRCm39) |
D294N |
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 39,956,801 (GRCm39) |
W113R |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,703,041 (GRCm39) |
Y138C |
probably damaging |
Het |
| Spag11a |
T |
C |
8: 19,207,962 (GRCm39) |
M1T |
probably null |
Het |
| Spata20 |
T |
C |
11: 94,375,435 (GRCm39) |
M120V |
probably damaging |
Het |
| Stk32a |
A |
C |
18: 43,447,113 (GRCm39) |
K357Q |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,183,382 (GRCm39) |
L614I |
probably benign |
Het |
| Trmo |
A |
T |
4: 46,389,364 (GRCm39) |
C10* |
probably null |
Het |
| Tsc22d1 |
T |
G |
14: 76,655,696 (GRCm39) |
V643G |
probably benign |
Het |
| Vangl2 |
A |
T |
1: 171,837,132 (GRCm39) |
L226I |
probably damaging |
Het |
| Vps35l |
T |
A |
7: 118,406,232 (GRCm39) |
D605E |
probably damaging |
Het |
| Wnt3a |
A |
T |
11: 59,140,626 (GRCm39) |
C297S |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,778,930 (GRCm39) |
K301E |
possibly damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,464,039 (GRCm39) |
T1399I |
possibly damaging |
Het |
| Zswim4 |
C |
T |
8: 84,953,296 (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 |
|
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 |
|
|
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'- AACTTCACGGTCTAGCCACC -3'
(R):5'- GACATCCCCTCAGCATAACTTCTG -3'
Sequencing Primer
(F):5'- CTTTGCAGAAGACCATCAAATGAG -3'
(R):5'- TGTCACTGATATTCTCTGATAGCAC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation