Incidental Mutation 'R5573:Mettl23'
| ID |
435789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl23
|
| Ensembl Gene |
ENSMUSG00000090266 |
| Gene Name |
methyltransferase like 23 |
| Synonyms |
4933424L15Rik, 1110005A03Rik, 1500035B17Rik |
| MMRRC Submission |
043128-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.526)
|
| Stock # |
R5573 (G1)
|
| Quality Score |
106 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
116734341-116740566 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 116734437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047616]
[ENSMUST00000106370]
[ENSMUST00000140349]
[ENSMUST00000142495]
[ENSMUST00000140513]
|
| AlphaFold |
A2AA28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047616
|
| SMART Domains |
Protein: ENSMUSP00000047570
Gene: ENSMUSG00000056962
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
141 |
305 |
6.09e-48 |
SMART |
|
low complexity region
|
340 |
369 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000106370
AA Change: D2G
|
| SMART Domains |
Protein: ENSMUSP00000101978
Gene: ENSMUSG00000090266
AA Change: D2G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:Methyltransf_16
|
48 |
203 |
9.9e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124831
|
| SMART Domains |
Protein: ENSMUSP00000122867
Gene: ENSMUSG00000056962
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:JmjC
|
1 |
81 |
6.3e-20 |
PFAM |
|
low complexity region
|
150 |
179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132593
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140349
|
| SMART Domains |
Protein: ENSMUSP00000120850
Gene: ENSMUSG00000056962
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
93 |
257 |
6.09e-48 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176799
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184052
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140869
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142495
|
| SMART Domains |
Protein: ENSMUSP00000117922
Gene: ENSMUSG00000056962
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
141 |
270 |
4.17e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140513
|
| SMART Domains |
Protein: ENSMUSP00000115086
Gene: ENSMUSG00000056962
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
98 |
262 |
6.09e-48 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transcription factor. Mutations in this gene cause mild autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
A |
T |
13: 98,065,999 (GRCm39) |
V1618D |
probably benign |
Het |
| Asic5 |
T |
A |
3: 81,911,791 (GRCm39) |
F129Y |
probably benign |
Het |
| Cachd1 |
A |
C |
4: 100,831,276 (GRCm39) |
K689N |
probably damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,278,782 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
T |
C |
2: 178,108,482 (GRCm39) |
V360A |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,261,525 (GRCm39) |
A605V |
probably benign |
Het |
| Csn3 |
A |
G |
5: 88,077,910 (GRCm39) |
T139A |
probably benign |
Het |
| Ddx27 |
G |
T |
2: 166,859,806 (GRCm39) |
K79N |
possibly damaging |
Het |
| Dhx29 |
G |
A |
13: 113,069,749 (GRCm39) |
D211N |
probably benign |
Het |
| Dlg2 |
A |
G |
7: 91,646,532 (GRCm39) |
|
probably null |
Het |
| Dse |
C |
A |
10: 34,028,678 (GRCm39) |
R804L |
probably benign |
Het |
| Fgb |
T |
C |
3: 82,956,984 (GRCm39) |
|
probably null |
Het |
| Gm11011 |
A |
T |
2: 169,429,392 (GRCm39) |
I31K |
unknown |
Het |
| Hira |
A |
G |
16: 18,735,349 (GRCm39) |
T272A |
probably damaging |
Het |
| Lcmt1 |
T |
A |
7: 123,000,686 (GRCm39) |
H117Q |
probably benign |
Het |
| Mtmr2 |
T |
C |
9: 13,704,463 (GRCm39) |
Y197H |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,778,284 (GRCm39) |
S1347A |
probably benign |
Het |
| Myrfl |
A |
G |
10: 116,658,661 (GRCm39) |
V432A |
probably damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,925,531 (GRCm39) |
H6347Q |
possibly damaging |
Het |
| Or52r1b |
A |
T |
7: 102,691,547 (GRCm39) |
Y282F |
probably damaging |
Het |
| Or8b53 |
T |
A |
9: 38,667,000 (GRCm39) |
N5K |
probably damaging |
Het |
| Peg10 |
A |
G |
6: 4,755,913 (GRCm39) |
|
probably benign |
Het |
| Pfkfb3 |
A |
G |
2: 11,506,483 (GRCm39) |
V10A |
probably benign |
Het |
| Phf12 |
A |
G |
11: 77,915,871 (GRCm39) |
D175G |
probably damaging |
Het |
| Plekhg6 |
T |
G |
6: 125,352,755 (GRCm39) |
I131L |
possibly damaging |
Het |
| Ptbp3 |
A |
G |
4: 59,485,626 (GRCm39) |
V95A |
probably damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,855,664 (GRCm39) |
T604A |
probably benign |
Het |
| Rbbp8nl |
G |
A |
2: 179,921,586 (GRCm39) |
P266L |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,715,148 (GRCm39) |
S4659G |
unknown |
Het |
| Serpinb9d |
A |
G |
13: 33,380,423 (GRCm39) |
|
probably null |
Het |
| Slc22a28 |
A |
C |
19: 8,048,462 (GRCm39) |
I395S |
possibly damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,055,656 (GRCm39) |
I82L |
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,876,504 (GRCm39) |
R295* |
probably null |
Het |
| Tdrd9 |
C |
T |
12: 111,964,336 (GRCm39) |
|
probably null |
Het |
| Ube2v2 |
A |
G |
16: 15,374,343 (GRCm39) |
L77P |
possibly damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,361,769 (GRCm39) |
S182P |
probably damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,336,201 (GRCm39) |
E131G |
probably damaging |
Het |
| Wdr18 |
C |
T |
10: 79,800,872 (GRCm39) |
A145V |
probably benign |
Het |
| Xpnpep1 |
A |
G |
19: 52,993,253 (GRCm39) |
I358T |
probably damaging |
Het |
| Zfp946 |
T |
A |
17: 22,673,676 (GRCm39) |
C143* |
probably null |
Het |
|
| Other mutations in Mettl23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
stretch
|
UTSW |
11 |
116,739,865 (GRCm39) |
nonsense |
probably null |
|
|
R0437:Mettl23
|
UTSW |
11 |
116,740,120 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4243:Mettl23
|
UTSW |
11 |
116,739,126 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5564:Mettl23
|
UTSW |
11 |
116,739,865 (GRCm39) |
nonsense |
probably null |
|
|
R5593:Mettl23
|
UTSW |
11 |
116,734,593 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6077:Mettl23
|
UTSW |
11 |
116,739,728 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6545:Mettl23
|
UTSW |
11 |
116,740,042 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7315:Mettl23
|
UTSW |
11 |
116,739,928 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7775:Mettl23
|
UTSW |
11 |
116,740,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7778:Mettl23
|
UTSW |
11 |
116,740,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7898:Mettl23
|
UTSW |
11 |
116,736,679 (GRCm39) |
unclassified |
probably benign |
|
|
R8308:Mettl23
|
UTSW |
11 |
116,739,185 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8916:Mettl23
|
UTSW |
11 |
116,740,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Mettl23
|
UTSW |
11 |
116,744,865 (GRCm39) |
missense |
unknown |
|
|
R9211:Mettl23
|
UTSW |
11 |
116,734,469 (GRCm39) |
missense |
unknown |
|
|
X0060:Mettl23
|
UTSW |
11 |
116,734,466 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGATTCACTCCTCAGCCG -3'
(R):5'- GGTGCTAATGAACGAAGCCG -3'
Sequencing Primer
(F):5'- ATTGGCCTCAGCGACCTG -3'
(R):5'- TCCCGCTCCAAACAGGG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation