Incidental Mutation 'R8832:Myt1l'
| ID |
673939 |
| 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 |
068660-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8832 (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 29970351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1145
(N1145K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058264
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021009]
[ENSMUST00000049784]
[ENSMUST00000218583]
|
| AlphaFold |
P97500 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000021009
AA Change: N1143K
|
| SMART Domains |
Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: N1143K
| 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: N1145K
|
| SMART Domains |
Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: N1145K
| 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: N1143K
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219744
|
| Meta Mutation Damage Score |
0.0700 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
99% (81/82) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
T |
10: 29,100,341 (GRCm39) |
E238V |
probably damaging |
Het |
| Adh6b |
T |
C |
3: 138,055,463 (GRCm39) |
V71A |
probably benign |
Het |
| Agmat |
G |
A |
4: 141,474,320 (GRCm39) |
R67H |
probably benign |
Het |
| AI182371 |
T |
C |
2: 34,985,909 (GRCm39) |
D49G |
unknown |
Het |
| Ak7 |
A |
G |
12: 105,708,598 (GRCm39) |
N351S |
possibly damaging |
Het |
| Aldh3b1 |
G |
T |
19: 3,964,025 (GRCm39) |
R426S |
probably damaging |
Het |
| Aldh4a1 |
A |
G |
4: 139,371,466 (GRCm39) |
D460G |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,294,649 (GRCm39) |
M953L |
probably benign |
Het |
| Arhgap32 |
C |
T |
9: 32,172,115 (GRCm39) |
P1632S |
possibly damaging |
Het |
| Armh1 |
A |
G |
4: 117,094,867 (GRCm39) |
F58L |
probably damaging |
Het |
| Baz1b |
C |
T |
5: 135,246,230 (GRCm39) |
R560W |
possibly damaging |
Het |
| Bbs10 |
C |
T |
10: 111,136,266 (GRCm39) |
Q460* |
probably null |
Het |
| BC034090 |
A |
C |
1: 155,102,034 (GRCm39) |
S77A |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,158,064 (GRCm39) |
K409E |
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,465,611 (GRCm39) |
K1792E |
possibly damaging |
Het |
| Cadps2 |
A |
T |
6: 23,587,536 (GRCm39) |
L318Q |
possibly damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,397,269 (GRCm39) |
V1078A |
probably benign |
Het |
| Ccno |
A |
G |
13: 113,126,239 (GRCm39) |
N236S |
probably benign |
Het |
| Chct1 |
A |
G |
11: 85,062,037 (GRCm39) |
D12G |
probably damaging |
Het |
| Cobll1 |
A |
T |
2: 64,929,602 (GRCm39) |
S575T |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,949,353 (GRCm39) |
Y761H |
probably benign |
Het |
| Cyp2j9 |
G |
T |
4: 96,474,121 (GRCm39) |
H106Q |
probably benign |
Het |
| Dennd2c |
T |
A |
3: 103,059,720 (GRCm39) |
|
probably null |
Het |
| Drd5 |
G |
A |
5: 38,477,078 (GRCm39) |
V24M |
probably benign |
Het |
| Dthd1 |
T |
C |
5: 62,971,608 (GRCm39) |
S144P |
probably benign |
Het |
| Fcna |
C |
A |
2: 25,516,145 (GRCm39) |
R124L |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,944,584 (GRCm39) |
S188G |
|
Het |
| Ggt1 |
A |
T |
10: 75,410,173 (GRCm39) |
H35L |
possibly damaging |
Het |
| Gphn |
A |
T |
12: 78,459,174 (GRCm39) |
|
silent |
Het |
| Hic1 |
G |
A |
11: 75,057,728 (GRCm39) |
A387V |
possibly damaging |
Het |
| Hycc2 |
A |
T |
1: 58,587,832 (GRCm39) |
I127N |
possibly damaging |
Het |
| Igf1r |
T |
A |
7: 67,875,769 (GRCm39) |
F1244I |
probably damaging |
Het |
| Kcnk7 |
T |
C |
19: 5,754,736 (GRCm39) |
V78A |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,799,791 (GRCm39) |
N508D |
probably benign |
Het |
| Klk1b22 |
A |
T |
7: 43,764,277 (GRCm39) |
E68D |
probably benign |
Het |
| Klra4 |
C |
T |
6: 130,021,019 (GRCm39) |
D259N |
probably benign |
Het |
| Krtap2-4 |
A |
T |
11: 99,505,246 (GRCm39) |
C122S |
unknown |
Het |
| Map3k1 |
T |
G |
13: 111,889,015 (GRCm39) |
H1314P |
possibly damaging |
Het |
| Mast2 |
C |
T |
4: 116,168,875 (GRCm39) |
|
probably null |
Het |
| Mfsd2a |
A |
G |
4: 122,843,102 (GRCm39) |
V393A |
probably benign |
Het |
| Myh7b |
T |
A |
2: 155,475,182 (GRCm39) |
V1858E |
probably benign |
Het |
| Myo1c |
G |
A |
11: 75,561,072 (GRCm39) |
V793I |
probably benign |
Het |
| Nckap1l |
T |
A |
15: 103,387,242 (GRCm39) |
S706T |
probably benign |
Het |
| Nos2 |
A |
G |
11: 78,846,290 (GRCm39) |
|
probably null |
Het |
| Odf2l |
C |
T |
3: 144,833,820 (GRCm39) |
S160L |
probably benign |
Het |
| Or10ag54 |
T |
A |
2: 87,099,743 (GRCm39) |
M206K |
probably benign |
Het |
| Or2av9 |
T |
C |
11: 58,381,063 (GRCm39) |
I173V |
possibly damaging |
Het |
| Or4p18 |
A |
G |
2: 88,233,137 (GRCm39) |
I47T |
probably damaging |
Het |
| Or56b34 |
T |
C |
7: 104,937,435 (GRCm39) |
L45P |
possibly damaging |
Het |
| Or8g53 |
T |
C |
9: 39,683,886 (GRCm39) |
D70G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,838,464 (GRCm39) |
W1424R |
|
Het |
| Pde8a |
A |
G |
7: 80,956,498 (GRCm39) |
N299S |
probably benign |
Het |
| Pi4kb |
C |
T |
3: 94,900,344 (GRCm39) |
T326M |
probably damaging |
Het |
| Pip4k2c |
A |
T |
10: 127,037,037 (GRCm39) |
H177Q |
probably damaging |
Het |
| Pld1 |
T |
A |
3: 28,177,846 (GRCm39) |
W686R |
|
Het |
| Ppp1r3b |
A |
T |
8: 35,851,419 (GRCm39) |
D86V |
probably damaging |
Het |
| Ppp1r3g |
C |
T |
13: 36,153,143 (GRCm39) |
R188* |
probably null |
Het |
| Pramel48 |
G |
T |
5: 95,630,939 (GRCm39) |
C272F |
possibly damaging |
Het |
| Ptbp1 |
A |
G |
10: 79,699,023 (GRCm39) |
E527G |
probably damaging |
Het |
| Rasef |
T |
C |
4: 73,698,558 (GRCm39) |
|
probably benign |
Het |
| Rce1 |
A |
T |
19: 4,675,532 (GRCm39) |
C34S |
unknown |
Het |
| Rnf144a |
T |
C |
12: 26,370,948 (GRCm39) |
|
probably benign |
Het |
| Rpl7 |
C |
T |
1: 16,173,485 (GRCm39) |
R88H |
possibly damaging |
Het |
| Rubcnl |
A |
T |
14: 75,269,359 (GRCm39) |
T6S |
|
Het |
| Samd9l |
A |
T |
6: 3,374,990 (GRCm39) |
V757D |
probably damaging |
Het |
| Sec22c |
A |
G |
9: 121,514,638 (GRCm39) |
V221A |
probably benign |
Het |
| Slc16a6 |
A |
G |
11: 109,345,932 (GRCm39) |
Y444H |
probably benign |
Het |
| Slc6a15 |
A |
T |
10: 103,225,179 (GRCm39) |
Y89F |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,739,006 (GRCm39) |
V3466A |
probably benign |
Het |
| Sobp |
G |
A |
10: 43,036,824 (GRCm39) |
T38I |
probably damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Srsf5 |
T |
A |
12: 80,996,278 (GRCm39) |
F151I |
probably damaging |
Het |
| Taf2 |
A |
C |
15: 54,928,001 (GRCm39) |
L134R |
possibly damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,442,020 (GRCm39) |
|
probably benign |
Het |
| Thap1 |
C |
T |
8: 26,648,261 (GRCm39) |
|
probably benign |
Het |
| Tmc5 |
A |
T |
7: 118,222,332 (GRCm39) |
M11L |
probably benign |
Het |
| Tnfaip8 |
ACACACTCTCTCTCTC |
AC |
18: 50,179,908 (GRCm39) |
|
probably benign |
Het |
| Tomm7 |
T |
C |
5: 24,049,047 (GRCm39) |
K9E |
possibly damaging |
Het |
| Trem3 |
T |
C |
17: 48,556,865 (GRCm39) |
V112A |
probably benign |
Het |
| Vmn1r178 |
G |
A |
7: 23,593,264 (GRCm39) |
C104Y |
probably damaging |
Het |
| Zdhhc20 |
A |
T |
14: 58,080,721 (GRCm39) |
S263T |
possibly damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,103,089 (GRCm39) |
S87P |
probably benign |
Het |
| Zfp423 |
C |
A |
8: 88,507,827 (GRCm39) |
C839F |
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 |
|
|
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'- TTGGTCACCACCCTGAAACC -3'
(R):5'- CTGGTAAGTTACAGCAGCAAGAAAC -3'
Sequencing Primer
(F):5'- CCGTTAACCACTAGAAACATTGGTGG -3'
(R):5'- CAAGAGGCATCCTTTTTAAGCATGAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation