Incidental Mutation 'R6315:Myt1l'
| ID |
510607 |
| 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 |
044472-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6315 (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 C
at 29877797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 483
(S483P)
|
| 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: S483P
|
| SMART Domains |
Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: S483P
| 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: S483P
|
| SMART Domains |
Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: S483P
| 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: S483P
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
97% (64/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,945,315 (GRCm39) |
Y464H |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,983,990 (GRCm39) |
M1758T |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,282,837 (GRCm39) |
D1201V |
possibly damaging |
Het |
| Amdhd2 |
A |
C |
17: 24,377,330 (GRCm39) |
H203Q |
probably benign |
Het |
| Ano3 |
A |
G |
2: 110,527,384 (GRCm39) |
M608T |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| Atp8b1 |
C |
A |
18: 64,664,550 (GRCm39) |
R1206L |
probably damaging |
Het |
| B4galt5 |
A |
T |
2: 167,147,729 (GRCm39) |
N215K |
probably damaging |
Het |
| Bpifa1 |
A |
G |
2: 153,987,996 (GRCm39) |
K180E |
possibly damaging |
Het |
| Cadm1 |
C |
T |
9: 47,721,417 (GRCm39) |
T269M |
probably damaging |
Het |
| Cadm3 |
T |
C |
1: 173,171,919 (GRCm39) |
D252G |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,309,448 (GRCm39) |
R348G |
probably benign |
Het |
| Cers4 |
G |
A |
8: 4,566,980 (GRCm39) |
C94Y |
probably benign |
Het |
| Cfap58 |
G |
A |
19: 47,929,716 (GRCm39) |
R59H |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,565,533 (GRCm39) |
G266D |
unknown |
Het |
| Col6a5 |
G |
T |
9: 105,759,169 (GRCm39) |
F2012L |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,168,588 (GRCm39) |
Q445R |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,657,643 (GRCm39) |
S238G |
probably benign |
Het |
| E130308A19Rik |
G |
A |
4: 59,691,132 (GRCm39) |
S322N |
probably benign |
Het |
| Eif5b |
A |
G |
1: 38,057,114 (GRCm39) |
D57G |
unknown |
Het |
| Fbn2 |
T |
C |
18: 58,188,025 (GRCm39) |
|
probably null |
Het |
| Fbxo38 |
A |
T |
18: 62,669,218 (GRCm39) |
C77* |
probably null |
Het |
| Fgb |
T |
A |
3: 82,952,362 (GRCm39) |
Q169L |
probably benign |
Het |
| Fut9 |
A |
T |
4: 25,619,774 (GRCm39) |
Y347N |
probably damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,862,688 (GRCm39) |
K132R |
probably damaging |
Het |
| Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,874,995 (GRCm39) |
L1833P |
probably damaging |
Het |
| Hk3 |
C |
T |
13: 55,158,970 (GRCm39) |
D484N |
probably benign |
Het |
| Icam4 |
T |
C |
9: 20,941,248 (GRCm39) |
V129A |
probably damaging |
Het |
| Impdh2 |
T |
C |
9: 108,440,638 (GRCm39) |
S280P |
possibly damaging |
Het |
| Impg1 |
C |
A |
9: 80,301,356 (GRCm39) |
G267V |
probably benign |
Het |
| Iqgap1 |
C |
T |
7: 80,449,638 (GRCm39) |
V39M |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,818,089 (GRCm39) |
N1253S |
probably benign |
Het |
| Mgat4b |
T |
A |
11: 50,122,591 (GRCm39) |
V195E |
probably damaging |
Het |
| Mrgprb8 |
C |
T |
7: 48,038,983 (GRCm39) |
T218I |
probably damaging |
Het |
| Myrfl |
T |
G |
10: 116,658,724 (GRCm39) |
E411A |
possibly damaging |
Het |
| Neil2 |
A |
G |
14: 63,420,920 (GRCm39) |
V80A |
possibly damaging |
Het |
| Nfe2l2 |
G |
T |
2: 75,507,163 (GRCm39) |
D312E |
probably damaging |
Het |
| Nin |
A |
T |
12: 70,092,389 (GRCm39) |
L640Q |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,213,804 (GRCm39) |
I1732N |
probably damaging |
Het |
| Nup42 |
T |
C |
5: 24,372,502 (GRCm39) |
S97P |
probably damaging |
Het |
| Or5b114-ps1 |
T |
C |
19: 13,352,769 (GRCm39) |
C148R |
unknown |
Het |
| Or5k16 |
A |
C |
16: 58,736,609 (GRCm39) |
Y132D |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,188,261 (GRCm39) |
T785S |
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Ppp1r1b |
A |
G |
11: 98,246,216 (GRCm39) |
E66G |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,994,306 (GRCm39) |
W1325R |
probably benign |
Het |
| Sec14l5 |
A |
C |
16: 4,998,141 (GRCm39) |
E500A |
possibly damaging |
Het |
| Sirpb1c |
A |
G |
3: 15,886,470 (GRCm39) |
V302A |
possibly damaging |
Het |
| Spata19 |
T |
C |
9: 27,312,133 (GRCm39) |
Y107H |
possibly damaging |
Het |
| Sv2a |
G |
A |
3: 96,095,502 (GRCm39) |
M298I |
probably benign |
Het |
| Tdrd6 |
A |
T |
17: 43,937,229 (GRCm39) |
M1273K |
probably benign |
Het |
| Tectb |
A |
G |
19: 55,179,904 (GRCm39) |
H250R |
possibly damaging |
Het |
| Trip11 |
T |
G |
12: 101,851,837 (GRCm39) |
E742D |
possibly damaging |
Het |
| Tslp |
A |
G |
18: 32,950,143 (GRCm39) |
T71A |
probably benign |
Het |
| Usp20 |
C |
T |
2: 30,907,770 (GRCm39) |
R711C |
possibly damaging |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Vmn2r8 |
A |
T |
5: 108,949,757 (GRCm39) |
F363L |
probably benign |
Het |
| Vsnl1 |
T |
A |
12: 11,382,156 (GRCm39) |
N75I |
probably damaging |
Het |
| Wdr55 |
A |
T |
18: 36,895,122 (GRCm39) |
D96V |
probably damaging |
Het |
| Wls |
T |
A |
3: 159,640,007 (GRCm39) |
|
probably null |
Het |
| Zc3h13 |
A |
G |
14: 75,546,355 (GRCm39) |
D152G |
probably damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,110,604 (GRCm39) |
E151G |
probably benign |
Het |
| Zfat |
A |
G |
15: 67,956,311 (GRCm39) |
S1174P |
probably damaging |
Het |
| Zfyve9 |
T |
A |
4: 108,531,685 (GRCm39) |
T416S |
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 |
|
|
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'- TGTTTGACATGACCAAGGGC -3'
(R):5'- TGTCTGCTCTAATGACAGCAC -3'
Sequencing Primer
(F):5'- GGCAACCTGACTCTGCTAG -3'
(R):5'- GTCTGCTCTAATGACAGCACATTTAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation