Incidental Mutation 'R6086:Myt1l'
| ID |
482499 |
| 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 |
044427-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6086 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
29578383-29973212 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29882331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 509
(G509R)
|
| 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: G509R
|
| SMART Domains |
Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: G509R
| 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: G511R
|
| SMART Domains |
Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: G511R
| 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: G509R
|
| Meta Mutation Damage Score |
0.6392 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (65/68) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
G |
T |
12: 8,065,164 (GRCm39) |
K4044N |
probably benign |
Het |
| Asic4 |
G |
A |
1: 75,449,887 (GRCm39) |
V468I |
possibly damaging |
Het |
| Atf4 |
T |
A |
15: 80,141,654 (GRCm39) |
V348D |
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,112,840 (GRCm39) |
V1205A |
possibly damaging |
Het |
| Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
| Cap2 |
C |
A |
13: 46,789,188 (GRCm39) |
P131Q |
probably damaging |
Het |
| Cdyl2 |
A |
G |
8: 117,316,035 (GRCm39) |
S318P |
probably damaging |
Het |
| Ces1a |
T |
G |
8: 93,753,981 (GRCm39) |
N341H |
probably benign |
Het |
| Cimap2 |
T |
C |
4: 106,470,403 (GRCm39) |
E218G |
probably damaging |
Het |
| Crlf3 |
C |
T |
11: 79,939,436 (GRCm39) |
V352M |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyren |
A |
G |
6: 34,851,555 (GRCm39) |
S127P |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,406,834 (GRCm39) |
T529A |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,880,741 (GRCm39) |
D2619N |
probably damaging |
Het |
| Dnah9 |
A |
C |
11: 65,976,000 (GRCm39) |
S1350A |
probably benign |
Het |
| Dnajc6 |
C |
T |
4: 101,455,004 (GRCm39) |
S65L |
probably benign |
Het |
| Dnm3 |
C |
A |
1: 162,148,602 (GRCm39) |
R256S |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,709,230 (GRCm39) |
D795G |
probably damaging |
Het |
| Fah |
A |
T |
7: 84,238,120 (GRCm39) |
W367R |
probably damaging |
Het |
| Fam220a |
T |
A |
5: 143,548,796 (GRCm39) |
H69Q |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,440,772 (GRCm39) |
T220S |
probably benign |
Het |
| Furin |
G |
T |
7: 80,045,179 (GRCm39) |
H248Q |
probably damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,911,396 (GRCm39) |
L410Q |
probably damaging |
Het |
| Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
| Gm9742 |
T |
C |
13: 8,080,069 (GRCm39) |
|
noncoding transcript |
Het |
| Gpcpd1 |
A |
G |
2: 132,380,034 (GRCm39) |
S252P |
probably damaging |
Het |
| Hnrnpdl |
C |
T |
5: 100,184,340 (GRCm39) |
G398S |
probably null |
Het |
| Hspa1l |
T |
C |
17: 35,197,131 (GRCm39) |
V390A |
possibly damaging |
Het |
| Htr3b |
T |
C |
9: 48,858,598 (GRCm39) |
S94G |
probably benign |
Het |
| Klf10 |
G |
T |
15: 38,297,181 (GRCm39) |
S271R |
probably benign |
Het |
| Klk1b3 |
T |
A |
7: 43,851,158 (GRCm39) |
L197Q |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,924,549 (GRCm39) |
R1861G |
probably damaging |
Het |
| Myo9a |
C |
T |
9: 59,697,340 (GRCm39) |
Q374* |
probably null |
Het |
| Ncapg |
T |
C |
5: 45,850,578 (GRCm39) |
L728P |
probably damaging |
Het |
| Nfxl1 |
A |
C |
5: 72,698,362 (GRCm39) |
F228V |
probably benign |
Het |
| Ntaq1 |
C |
A |
15: 58,014,024 (GRCm39) |
A71E |
probably damaging |
Het |
| Oc90 |
A |
G |
15: 65,761,560 (GRCm39) |
S153P |
probably damaging |
Het |
| Or4c123 |
A |
G |
2: 89,127,198 (GRCm39) |
C139R |
probably damaging |
Het |
| Or5b105 |
A |
G |
19: 13,079,745 (GRCm39) |
*308Q |
probably null |
Het |
| Pbk |
A |
T |
14: 66,052,702 (GRCm39) |
K182* |
probably null |
Het |
| Piezo1 |
A |
G |
8: 123,228,396 (GRCm39) |
F296S |
possibly damaging |
Het |
| Psmg1 |
T |
A |
16: 95,781,244 (GRCm39) |
Y288F |
probably damaging |
Het |
| Rab11fip4 |
G |
A |
11: 79,574,306 (GRCm39) |
D132N |
probably damaging |
Het |
| Recql4 |
T |
C |
15: 76,588,787 (GRCm39) |
D1051G |
probably damaging |
Het |
| Reep5 |
A |
C |
18: 34,490,184 (GRCm39) |
D104E |
probably damaging |
Het |
| Rnpepl1 |
T |
C |
1: 92,845,403 (GRCm39) |
Y441H |
probably damaging |
Het |
| Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
| Sema3b |
T |
C |
9: 107,478,047 (GRCm39) |
D446G |
probably damaging |
Het |
| Sema4d |
C |
T |
13: 51,867,781 (GRCm39) |
R190Q |
probably damaging |
Het |
| Slco3a1 |
G |
A |
7: 73,968,338 (GRCm39) |
R461C |
possibly damaging |
Het |
| Spmap2l |
T |
A |
5: 77,209,152 (GRCm39) |
V458E |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,899,473 (GRCm39) |
I2562F |
possibly damaging |
Het |
| Tmem40 |
G |
T |
6: 115,710,628 (GRCm39) |
N120K |
possibly damaging |
Het |
| Tmod3 |
T |
C |
9: 75,407,405 (GRCm39) |
H351R |
probably benign |
Het |
| Tnn |
C |
T |
1: 159,913,690 (GRCm39) |
V1268M |
probably damaging |
Het |
| Tpmt |
T |
A |
13: 47,188,506 (GRCm39) |
D132V |
probably damaging |
Het |
| Trgc3 |
T |
C |
13: 19,447,454 (GRCm39) |
S136P |
probably damaging |
Het |
| Trib1 |
G |
A |
15: 59,526,324 (GRCm39) |
R298H |
probably damaging |
Het |
| Tsen2 |
A |
G |
6: 115,537,036 (GRCm39) |
E264G |
probably benign |
Het |
| Urah |
A |
G |
7: 140,416,711 (GRCm39) |
I60M |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,016,519 (GRCm39) |
S328T |
possibly damaging |
Het |
| Vmn2r27 |
G |
C |
6: 124,168,958 (GRCm39) |
T724R |
probably damaging |
Het |
| Washc2 |
A |
G |
6: 116,233,177 (GRCm39) |
|
probably null |
Het |
| Zfp955b |
T |
A |
17: 33,521,478 (GRCm39) |
W316R |
probably benign |
Het |
| Zranb2 |
T |
C |
3: 157,248,883 (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 |
|
|
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 |
|
|
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'- GCTTATCATGTAACACACGGG -3'
(R):5'- TGCCATGAAGATGAGGTTGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation