Incidental Mutation 'R8275:Mettl22'
| ID |
637957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl22
|
| Ensembl Gene |
ENSMUSG00000039345 |
| Gene Name |
methyltransferase 22, Kin17 lysine |
| Synonyms |
|
| MMRRC Submission |
067698-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8275 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
8288623-8308069 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8303792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 286
(V286A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046470]
[ENSMUST00000142899]
[ENSMUST00000150790]
|
| AlphaFold |
Q8R1C6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046470
AA Change: V286A
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000044108
Gene: ENSMUSG00000039345
AA Change: V286A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_16
|
154 |
337 |
4.3e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142899
|
| SMART Domains |
Protein: ENSMUSP00000120894
Gene: ENSMUSG00000039345
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_16
|
116 |
209 |
9.9e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150790
AA Change: V72A
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114563
Gene: ENSMUSG00000039345
AA Change: V72A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_16
|
1 |
118 |
2.9e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (39/39) |
| 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 non-histone lysine methyltransferases. It interacts with its substrate, Kin17, which is involved in DNA repair and replication and mRNA processing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx1 |
T |
C |
10: 102,864,250 (GRCm39) |
D73G |
probably benign |
Het |
| Asah1 |
G |
A |
8: 41,801,159 (GRCm39) |
H156Y |
probably damaging |
Het |
| Cgn |
G |
A |
3: 94,682,263 (GRCm39) |
L439F |
possibly damaging |
Het |
| Creb1 |
C |
A |
1: 64,597,687 (GRCm39) |
T7K |
probably benign |
Het |
| Cyp2c54 |
T |
A |
19: 40,026,749 (GRCm39) |
I469L |
probably benign |
Het |
| Cyp2s1 |
T |
A |
7: 25,508,735 (GRCm39) |
T236S |
probably benign |
Het |
| Duox1 |
T |
C |
2: 122,175,249 (GRCm39) |
I1349T |
probably benign |
Het |
| Efhd2 |
C |
T |
4: 141,602,073 (GRCm39) |
A36T |
probably benign |
Het |
| Espl1 |
G |
A |
15: 102,211,188 (GRCm39) |
|
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,158,046 (GRCm39) |
Q1188L |
probably damaging |
Het |
| Flt1 |
A |
T |
5: 147,614,957 (GRCm39) |
Y330N |
probably damaging |
Het |
| Golga4 |
A |
T |
9: 118,361,627 (GRCm39) |
S202C |
probably damaging |
Het |
| Htr2b |
C |
T |
1: 86,030,294 (GRCm39) |
D134N |
probably damaging |
Het |
| Katna1 |
T |
A |
10: 7,628,574 (GRCm39) |
C268S |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,948,807 (GRCm39) |
Y857H |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,950,667 (GRCm39) |
I3741T |
probably benign |
Het |
| Mcm4 |
T |
C |
16: 15,452,435 (GRCm39) |
I233V |
probably damaging |
Het |
| Nav3 |
C |
A |
10: 109,527,984 (GRCm39) |
G1503V |
noncoding transcript |
Het |
| Obox1 |
T |
A |
7: 15,290,153 (GRCm39) |
N165K |
probably damaging |
Het |
| Or11g2 |
T |
A |
14: 50,855,868 (GRCm39) |
M63K |
probably damaging |
Het |
| Oxa1l |
T |
A |
14: 54,600,758 (GRCm39) |
I77N |
possibly damaging |
Het |
| Pakap |
T |
C |
4: 57,886,329 (GRCm39) |
|
probably null |
Het |
| Papss2 |
T |
C |
19: 32,615,760 (GRCm39) |
L164P |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,292,501 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Rsph10b |
C |
G |
5: 143,903,323 (GRCm39) |
T606S |
possibly damaging |
Het |
| Siglecg |
T |
C |
7: 43,061,892 (GRCm39) |
V546A |
probably benign |
Het |
| Slc22a29 |
T |
C |
19: 8,146,681 (GRCm39) |
S374G |
probably benign |
Het |
| Tia1 |
C |
T |
6: 86,404,718 (GRCm39) |
Q318* |
probably null |
Het |
| Trpm2 |
T |
A |
10: 77,801,859 (GRCm39) |
K69* |
probably null |
Het |
| Unc80 |
C |
T |
1: 66,679,773 (GRCm39) |
R2115* |
probably null |
Het |
| Usp35 |
A |
G |
7: 96,964,026 (GRCm39) |
S436P |
probably damaging |
Het |
| Vmn1r220 |
A |
T |
13: 23,368,483 (GRCm39) |
L71* |
probably null |
Het |
| Vmn2r15 |
A |
T |
5: 109,434,150 (GRCm39) |
D851E |
probably benign |
Het |
| Vps33a |
A |
T |
5: 123,707,522 (GRCm39) |
D148E |
probably damaging |
Het |
| Zfp729a |
G |
A |
13: 67,768,223 (GRCm39) |
H669Y |
probably benign |
Het |
| Zfp804b |
C |
T |
5: 6,822,289 (GRCm39) |
R258Q |
probably benign |
Het |
|
| Other mutations in Mettl22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01720:Mettl22
|
APN |
16 |
8,302,117 (GRCm39) |
splice site |
probably benign |
|
|
IGL02178:Mettl22
|
APN |
16 |
8,296,146 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02632:Mettl22
|
APN |
16 |
8,302,117 (GRCm39) |
splice site |
probably benign |
|
|
R0535:Mettl22
|
UTSW |
16 |
8,302,210 (GRCm39) |
splice site |
probably benign |
|
|
R0840:Mettl22
|
UTSW |
16 |
8,300,021 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1473:Mettl22
|
UTSW |
16 |
8,291,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Mettl22
|
UTSW |
16 |
8,305,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5166:Mettl22
|
UTSW |
16 |
8,296,115 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5236:Mettl22
|
UTSW |
16 |
8,306,597 (GRCm39) |
nonsense |
probably null |
|
|
R6488:Mettl22
|
UTSW |
16 |
8,305,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6492:Mettl22
|
UTSW |
16 |
8,306,755 (GRCm39) |
splice site |
probably null |
|
|
R7179:Mettl22
|
UTSW |
16 |
8,295,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7770:Mettl22
|
UTSW |
16 |
8,303,764 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8159:Mettl22
|
UTSW |
16 |
8,306,633 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8810:Mettl22
|
UTSW |
16 |
8,303,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8815:Mettl22
|
UTSW |
16 |
8,300,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9109:Mettl22
|
UTSW |
16 |
8,305,231 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCAGCTCAACCTTGTCTC -3'
(R):5'- GGGCTGGCAGAGTCCTGA -3'
Sequencing Primer
(F):5'- AACCTTGTCTCTTGTTCCGAAG -3'
(R):5'- TCTAGGTCATTCCAGAGGTCACAAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation