Incidental Mutation 'R7744:Myt1l'
| ID |
596750 |
| 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 |
045800-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7744 (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 29877548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 400
(C400R)
|
| 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: C400R
|
| SMART Domains |
Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: C400R
| 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: C400R
|
| SMART Domains |
Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: C400R
| 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: C400R
|
| Meta Mutation Damage Score |
0.1212 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,240,421 (GRCm39) |
N761K |
possibly damaging |
Het |
| Abi2 |
A |
G |
1: 60,476,362 (GRCm39) |
I145V |
probably benign |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Atf7ip2 |
T |
A |
16: 10,059,522 (GRCm39) |
V354E |
possibly damaging |
Het |
| Bglap |
T |
C |
3: 88,290,958 (GRCm39) |
Y91C |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,341,538 (GRCm39) |
S1219T |
probably damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,449,800 (GRCm39) |
C562R |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,862,485 (GRCm39) |
|
probably null |
Het |
| Dyrk3 |
A |
G |
1: 131,057,543 (GRCm39) |
V210A |
probably damaging |
Het |
| Eif3c |
C |
A |
7: 126,158,066 (GRCm39) |
G297W |
probably damaging |
Het |
| Eml1 |
A |
G |
12: 108,482,863 (GRCm39) |
H494R |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,764,629 (GRCm39) |
|
probably null |
Het |
| Fbxw21 |
C |
A |
9: 108,986,720 (GRCm39) |
C53F |
possibly damaging |
Het |
| Fndc3a |
C |
A |
14: 72,799,156 (GRCm39) |
G609V |
possibly damaging |
Het |
| Grid1 |
A |
G |
14: 35,172,036 (GRCm39) |
D514G |
probably damaging |
Het |
| Gxylt2 |
T |
C |
6: 100,760,278 (GRCm39) |
V271A |
probably damaging |
Het |
| Hes1 |
A |
G |
16: 29,884,997 (GRCm39) |
K74R |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,319,752 (GRCm39) |
N349S |
probably benign |
Het |
| Isx |
T |
A |
8: 75,600,285 (GRCm39) |
I6N |
possibly damaging |
Het |
| Kcnb1 |
A |
T |
2: 167,030,251 (GRCm39) |
F98Y |
probably damaging |
Het |
| Kif1b |
G |
C |
4: 149,321,532 (GRCm39) |
T1129R |
possibly damaging |
Het |
| Klra10 |
T |
A |
6: 130,249,724 (GRCm39) |
|
probably null |
Het |
| Mcm10 |
A |
T |
2: 4,996,253 (GRCm39) |
L870Q |
probably damaging |
Het |
| Mettl16 |
T |
A |
11: 74,693,829 (GRCm39) |
I280K |
probably benign |
Het |
| Mre11a |
G |
A |
9: 14,721,128 (GRCm39) |
R349Q |
possibly damaging |
Het |
| Mrpl10 |
C |
T |
11: 96,935,402 (GRCm39) |
T34I |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,496,392 (GRCm39) |
|
probably null |
Het |
| Nbr1 |
C |
T |
11: 101,460,210 (GRCm39) |
T402M |
probably damaging |
Het |
| Ndufs1 |
A |
G |
1: 63,200,099 (GRCm39) |
M271T |
possibly damaging |
Het |
| Or10q1 |
A |
G |
19: 13,727,419 (GRCm39) |
*316W |
probably null |
Het |
| Or4c29 |
C |
T |
2: 88,740,003 (GRCm39) |
V245I |
possibly damaging |
Het |
| Or51f23c-ps1 |
G |
T |
7: 102,431,597 (GRCm39) |
V305L |
probably benign |
Het |
| Pakap |
T |
C |
4: 57,709,519 (GRCm39) |
S155P |
probably damaging |
Het |
| Pced1a |
C |
T |
2: 130,263,972 (GRCm39) |
D227N |
probably damaging |
Het |
| Phf21b |
A |
G |
15: 84,689,070 (GRCm39) |
I152T |
probably damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,736,853 (GRCm39) |
V430A |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,594,244 (GRCm39) |
E335G |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,608,899 (GRCm39) |
V403M |
possibly damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,581,677 (GRCm39) |
N642K |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,113,389 (GRCm39) |
I123T |
probably benign |
Het |
| Rab3il1 |
T |
A |
19: 10,005,641 (GRCm39) |
|
probably null |
Het |
| Ranbp3 |
C |
T |
17: 57,015,219 (GRCm39) |
T307M |
possibly damaging |
Het |
| Rasgrp2 |
T |
C |
19: 6,455,031 (GRCm39) |
S254P |
probably damaging |
Het |
| Rgl3 |
T |
C |
9: 21,898,866 (GRCm39) |
K191R |
probably benign |
Het |
| Rnf223 |
G |
A |
4: 156,216,982 (GRCm39) |
R119H |
probably benign |
Het |
| Sapcd2 |
C |
T |
2: 25,263,508 (GRCm39) |
P217S |
unknown |
Het |
| Setd7 |
C |
T |
3: 51,434,261 (GRCm39) |
|
probably null |
Het |
| Sh3bp1 |
A |
C |
15: 78,794,209 (GRCm39) |
T526P |
possibly damaging |
Het |
| Slc17a4 |
C |
A |
13: 24,085,767 (GRCm39) |
W382L |
probably benign |
Het |
| Slc26a3 |
A |
T |
12: 31,513,464 (GRCm39) |
|
probably null |
Het |
| Tmem129 |
A |
G |
5: 33,811,732 (GRCm39) |
L356P |
probably damaging |
Het |
| Trib1 |
T |
A |
15: 59,526,512 (GRCm39) |
Y361N |
probably benign |
Het |
| Xirp1 |
T |
A |
9: 119,845,912 (GRCm39) |
R990S |
possibly damaging |
Het |
| Zfp950 |
A |
C |
19: 61,116,010 (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 |
|
|
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 |
|
|
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'- AACCAGTGCTTTGACCTGGC -3'
(R):5'- CCTCATAGGATCTCAGGTTATCCC -3'
Sequencing Primer
(F):5'- TGGCCAGGAAACTCAGCG -3'
(R):5'- ATAGGATCTCAGGTTATCCCTTCTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation