Incidental Mutation 'R5431:Myt1l'
| ID |
428062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myt1l
|
| Ensembl Gene |
ENSMUSG00000061911 |
| Gene Name |
myelin transcription factor 1-like |
| Synonyms |
C630034G21Rik, Nztf1, 2900046C06Rik, 2900093J19Rik, Png-1, Pmng1 |
| MMRRC Submission |
042847-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5431 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
29528384-29923213 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29832332 bp (GRCm38)
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
T |
C |
16: 88,707,538 (GRCm38) |
S124G |
possibly damaging |
Het |
| 4921539E11Rik |
T |
C |
4: 103,270,848 (GRCm38) |
T27A |
probably benign |
Het |
| Aspg |
T |
A |
12: 112,123,412 (GRCm38) |
N461K |
probably benign |
Het |
| B4galnt3 |
T |
A |
6: 120,218,967 (GRCm38) |
T300S |
probably damaging |
Het |
| BC035044 |
A |
G |
6: 128,885,007 (GRCm38) |
|
probably benign |
Het |
| Bmp5 |
C |
T |
9: 75,893,709 (GRCm38) |
P374S |
probably damaging |
Het |
| C330018D20Rik |
A |
T |
18: 56,957,856 (GRCm38) |
F78L |
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,302,170 (GRCm38) |
S289T |
probably benign |
Het |
| Cerkl |
C |
T |
2: 79,341,335 (GRCm38) |
C393Y |
probably damaging |
Het |
| Ciita |
C |
T |
16: 10,523,792 (GRCm38) |
R1020C |
probably damaging |
Het |
| Dcaf13 |
C |
A |
15: 39,123,224 (GRCm38) |
D130E |
probably benign |
Het |
| Dnal4 |
C |
T |
15: 79,762,447 (GRCm38) |
G50R |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,971,568 (GRCm38) |
N109S |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,676,554 (GRCm38) |
V2435A |
unknown |
Het |
| Fam178b |
T |
C |
1: 36,632,485 (GRCm38) |
E185G |
probably damaging |
Het |
| Fam227b |
C |
A |
2: 126,126,931 (GRCm38) |
L74F |
probably benign |
Het |
| Fam92b |
C |
A |
8: 120,167,303 (GRCm38) |
|
probably null |
Het |
| Fgfr4 |
G |
A |
13: 55,156,651 (GRCm38) |
V138I |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,456,384 (GRCm38) |
I2161V |
possibly damaging |
Het |
| Frmd5 |
T |
C |
2: 121,562,909 (GRCm38) |
N235S |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,445,147 (GRCm38) |
|
noncoding transcript |
Het |
| Ggt6 |
A |
G |
11: 72,437,738 (GRCm38) |
T355A |
possibly damaging |
Het |
| Gm14393 |
G |
A |
2: 175,063,876 (GRCm38) |
T41I |
probably damaging |
Het |
| Gpr151 |
A |
C |
18: 42,578,867 (GRCm38) |
S249A |
probably damaging |
Het |
| Gpr152 |
T |
A |
19: 4,143,747 (GRCm38) |
V429D |
probably benign |
Het |
| Grm7 |
G |
A |
6: 111,358,426 (GRCm38) |
M599I |
probably benign |
Het |
| Hdac4 |
T |
A |
1: 91,972,790 (GRCm38) |
R54* |
probably null |
Het |
| Ice1 |
A |
G |
13: 70,592,650 (GRCm38) |
L2146S |
probably damaging |
Het |
| Igfbpl1 |
C |
T |
4: 45,815,588 (GRCm38) |
V183I |
probably benign |
Het |
| Kel |
G |
A |
6: 41,698,420 (GRCm38) |
S299F |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,496,695 (GRCm38) |
I1016T |
possibly damaging |
Het |
| Lhx3 |
T |
C |
2: 26,201,118 (GRCm38) |
D395G |
probably damaging |
Het |
| Micu1 |
T |
C |
10: 59,750,521 (GRCm38) |
Y140H |
possibly damaging |
Het |
| Nbn |
C |
T |
4: 15,986,593 (GRCm38) |
H665Y |
probably benign |
Het |
| Pkhd1 |
G |
T |
1: 20,117,836 (GRCm38) |
T3416K |
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 109,100,772 (GRCm38) |
F232S |
probably damaging |
Het |
| Pus7l |
T |
C |
15: 94,529,486 (GRCm38) |
N472D |
probably damaging |
Het |
| Rfx1 |
C |
T |
8: 84,082,720 (GRCm38) |
Q225* |
probably null |
Het |
| Rnase2a |
T |
C |
14: 51,255,563 (GRCm38) |
Y115C |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 29,109,812 (GRCm38) |
D386V |
probably benign |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,153,384 (GRCm38) |
|
probably benign |
Homo |
| Sgcz |
T |
A |
8: 37,639,984 (GRCm38) |
T125S |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,642,795 (GRCm38) |
G461R |
probably damaging |
Het |
| Syt2 |
A |
G |
1: 134,740,957 (GRCm38) |
S36G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,597,185 (GRCm38) |
L31P |
probably damaging |
Het |
| Tenm3 |
C |
A |
8: 48,367,377 (GRCm38) |
E142* |
probably null |
Het |
| Tgfbr2 |
G |
T |
9: 116,131,601 (GRCm38) |
S94R |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,091,818 (GRCm38) |
I293T |
probably damaging |
Het |
| Wrap73 |
G |
A |
4: 154,145,274 (GRCm38) |
R34Q |
probably damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,780,065 (GRCm38) |
D511G |
possibly damaging |
Het |
| Zcchc11 |
T |
A |
4: 108,491,412 (GRCm38) |
I297N |
probably damaging |
Het |
|
| Other mutations in Myt1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Myt1l
|
APN |
12 |
29,827,424 (GRCm38) |
missense |
unknown |
|
|
IGL00896:Myt1l
|
APN |
12 |
29,826,886 (GRCm38) |
missense |
unknown |
|
|
IGL01653:Myt1l
|
APN |
12 |
29,910,771 (GRCm38) |
missense |
unknown |
|
|
IGL02632:Myt1l
|
APN |
12 |
29,914,293 (GRCm38) |
missense |
unknown |
|
|
IGL03088:Myt1l
|
APN |
12 |
29,920,477 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03212:Myt1l
|
APN |
12 |
29,827,820 (GRCm38) |
missense |
unknown |
|
|
BB003:Myt1l
|
UTSW |
12 |
29,811,652 (GRCm38) |
missense |
unknown |
|
|
BB013:Myt1l
|
UTSW |
12 |
29,811,652 (GRCm38) |
missense |
unknown |
|
|
R0057:Myt1l
|
UTSW |
12 |
29,842,612 (GRCm38) |
splice site |
probably null |
|
|
R0126:Myt1l
|
UTSW |
12 |
29,851,720 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0356:Myt1l
|
UTSW |
12 |
29,811,501 (GRCm38) |
missense |
unknown |
|
|
R0538:Myt1l
|
UTSW |
12 |
29,842,571 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R0587:Myt1l
|
UTSW |
12 |
29,811,635 (GRCm38) |
missense |
unknown |
|
|
R0629:Myt1l
|
UTSW |
12 |
29,811,485 (GRCm38) |
missense |
unknown |
|
|
R0709:Myt1l
|
UTSW |
12 |
29,827,733 (GRCm38) |
missense |
unknown |
|
|
R0736:Myt1l
|
UTSW |
12 |
29,827,814 (GRCm38) |
missense |
unknown |
|
|
R0920:Myt1l
|
UTSW |
12 |
29,886,139 (GRCm38) |
missense |
unknown |
|
|
R1618:Myt1l
|
UTSW |
12 |
29,827,397 (GRCm38) |
missense |
unknown |
|
|
R1660:Myt1l
|
UTSW |
12 |
29,895,273 (GRCm38) |
missense |
unknown |
|
|
R1716:Myt1l
|
UTSW |
12 |
29,811,538 (GRCm38) |
missense |
unknown |
|
|
R1758:Myt1l
|
UTSW |
12 |
29,827,242 (GRCm38) |
missense |
unknown |
|
|
R1852:Myt1l
|
UTSW |
12 |
29,851,661 (GRCm38) |
missense |
probably benign |
0.27 |
|
R1971:Myt1l
|
UTSW |
12 |
29,827,092 (GRCm38) |
missense |
unknown |
|
|
R2120:Myt1l
|
UTSW |
12 |
29,783,619 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2227:Myt1l
|
UTSW |
12 |
29,826,970 (GRCm38) |
missense |
unknown |
|
|
R2865:Myt1l
|
UTSW |
12 |
29,910,789 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4587:Myt1l
|
UTSW |
12 |
29,910,801 (GRCm38) |
missense |
unknown |
|
|
R4603:Myt1l
|
UTSW |
12 |
29,842,540 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4659:Myt1l
|
UTSW |
12 |
29,849,457 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4734:Myt1l
|
UTSW |
12 |
29,919,926 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4786:Myt1l
|
UTSW |
12 |
29,811,458 (GRCm38) |
missense |
unknown |
|
|
R4824:Myt1l
|
UTSW |
12 |
29,849,400 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4835:Myt1l
|
UTSW |
12 |
29,895,305 (GRCm38) |
missense |
unknown |
|
|
R4888:Myt1l
|
UTSW |
12 |
29,886,139 (GRCm38) |
missense |
unknown |
|
|
R4976:Myt1l
|
UTSW |
12 |
29,832,303 (GRCm38) |
missense |
unknown |
|
|
R4980:Myt1l
|
UTSW |
12 |
29,827,039 (GRCm38) |
missense |
unknown |
|
|
R5119:Myt1l
|
UTSW |
12 |
29,832,303 (GRCm38) |
missense |
unknown |
|
|
R5194:Myt1l
|
UTSW |
12 |
29,811,648 (GRCm38) |
missense |
unknown |
|
|
R5247:Myt1l
|
UTSW |
12 |
29,832,332 (GRCm38) |
missense |
unknown |
|
|
R5249:Myt1l
|
UTSW |
12 |
29,832,332 (GRCm38) |
missense |
unknown |
|
|
R5427:Myt1l
|
UTSW |
12 |
29,832,332 (GRCm38) |
missense |
unknown |
|
|
R5428:Myt1l
|
UTSW |
12 |
29,832,332 (GRCm38) |
missense |
unknown |
|
|
R5429:Myt1l
|
UTSW |
12 |
29,832,332 (GRCm38) |
missense |
unknown |
|
|
R5628:Myt1l
|
UTSW |
12 |
29,811,621 (GRCm38) |
missense |
unknown |
|
|
R5926:Myt1l
|
UTSW |
12 |
29,832,332 (GRCm38) |
missense |
unknown |
|
|
R5959:Myt1l
|
UTSW |
12 |
29,920,040 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6082:Myt1l
|
UTSW |
12 |
29,842,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6082:Myt1l
|
UTSW |
12 |
29,832,332 (GRCm38) |
missense |
unknown |
|
|
R6084:Myt1l
|
UTSW |
12 |
29,832,332 (GRCm38) |
missense |
unknown |
|
|
R6086:Myt1l
|
UTSW |
12 |
29,832,332 (GRCm38) |
missense |
unknown |
|
|
R6145:Myt1l
|
UTSW |
12 |
29,832,381 (GRCm38) |
missense |
unknown |
|
|
R6293:Myt1l
|
UTSW |
12 |
29,827,628 (GRCm38) |
missense |
unknown |
|
|
R6315:Myt1l
|
UTSW |
12 |
29,827,798 (GRCm38) |
missense |
unknown |
|
|
R6458:Myt1l
|
UTSW |
12 |
29,895,299 (GRCm38) |
missense |
unknown |
|
|
R6490:Myt1l
|
UTSW |
12 |
29,832,366 (GRCm38) |
missense |
unknown |
|
|
R6758:Myt1l
|
UTSW |
12 |
29,842,600 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7230:Myt1l
|
UTSW |
12 |
29,783,874 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7330:Myt1l
|
UTSW |
12 |
29,851,554 (GRCm38) |
missense |
unknown |
|
|
R7545:Myt1l
|
UTSW |
12 |
29,827,088 (GRCm38) |
missense |
unknown |
|
|
R7662:Myt1l
|
UTSW |
12 |
29,826,869 (GRCm38) |
missense |
unknown |
|
|
R7744:Myt1l
|
UTSW |
12 |
29,827,549 (GRCm38) |
missense |
unknown |
|
|
R7926:Myt1l
|
UTSW |
12 |
29,811,652 (GRCm38) |
missense |
unknown |
|
|
R8832:Myt1l
|
UTSW |
12 |
29,920,352 (GRCm38) |
missense |
unknown |
|
|
R8903:Myt1l
|
UTSW |
12 |
29,811,469 (GRCm38) |
missense |
unknown |
|
|
R8923:Myt1l
|
UTSW |
12 |
29,910,801 (GRCm38) |
missense |
unknown |
|
|
R8935:Myt1l
|
UTSW |
12 |
29,827,244 (GRCm38) |
missense |
unknown |
|
|
R8944:Myt1l
|
UTSW |
12 |
29,811,565 (GRCm38) |
missense |
unknown |
|
|
R9000:Myt1l
|
UTSW |
12 |
29,851,741 (GRCm38) |
missense |
unknown |
|
|
R9329:Myt1l
|
UTSW |
12 |
29,851,660 (GRCm38) |
missense |
unknown |
|
|
R9523:Myt1l
|
UTSW |
12 |
29,827,612 (GRCm38) |
missense |
unknown |
|
|
R9599:Myt1l
|
UTSW |
12 |
29,893,442 (GRCm38) |
missense |
unknown |
|
|
U24488:Myt1l
|
UTSW |
12 |
29,826,896 (GRCm38) |
missense |
unknown |
|
|
Z1177:Myt1l
|
UTSW |
12 |
29,842,468 (GRCm38) |
missense |
unknown |
|
|
Z1177:Myt1l
|
UTSW |
12 |
29,811,431 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTATCATGTAACACACGGG -3'
(R):5'- TGCCATGAAGATGAGGTTGG -3'
Sequencing Primer
(F):5'- GCAAAAGCCTGCTGTCCCAG -3'
(R):5'- TTGGGGAAGGGATGATTGAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation