Incidental Mutation 'IGL01462:Mtcl3'
| ID |
88032 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtcl3
|
| Ensembl Gene |
ENSMUSG00000038916 |
| Gene Name |
MTCL family member 3 |
| Synonyms |
Soga3, 6330407J23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
IGL01462
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
29019992-29075626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 29024254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 390
(L390R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092629]
[ENSMUST00000216757]
|
| AlphaFold |
Q6NZL0 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000070359
|
| SMART Domains |
Protein: ENSMUSP00000063425
Gene: ENSMUSG00000056316
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
83 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092629
AA Change: L390R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000090293
Gene: ENSMUSG00000038916
AA Change: L390R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
247 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
354 |
488 |
2e-4 |
SMART |
|
Blast:BRLZ
|
356 |
384 |
6e-10 |
BLAST |
|
Pfam:DUF3166
|
519 |
613 |
1.8e-34 |
PFAM |
|
Pfam:DUF3166
|
639 |
727 |
4.6e-34 |
PFAM |
|
transmembrane domain
|
917 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213243
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214863
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216757
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
C |
A |
6: 92,871,247 (GRCm39) |
A30S |
probably benign |
Het |
| Aspg |
A |
G |
12: 112,089,387 (GRCm39) |
T392A |
probably benign |
Het |
| Atp8b5 |
C |
A |
4: 43,368,010 (GRCm39) |
Q878K |
possibly damaging |
Het |
| Ccdc85a |
G |
T |
11: 28,526,506 (GRCm39) |
H339Q |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cog4 |
C |
T |
8: 111,592,717 (GRCm39) |
T430M |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,823,274 (GRCm39) |
Y28H |
unknown |
Het |
| Cth |
A |
T |
3: 157,610,804 (GRCm39) |
Y343N |
probably damaging |
Het |
| Dctn3 |
A |
T |
4: 41,719,854 (GRCm39) |
L84* |
probably null |
Het |
| Epha5 |
A |
T |
5: 84,219,092 (GRCm39) |
I868N |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,498,681 (GRCm39) |
N133D |
possibly damaging |
Het |
| Epor |
G |
A |
9: 21,870,752 (GRCm39) |
P376L |
probably damaging |
Het |
| Gsdme |
A |
G |
6: 50,204,354 (GRCm39) |
V201A |
possibly damaging |
Het |
| Hdgf |
G |
A |
3: 87,821,831 (GRCm39) |
E149K |
possibly damaging |
Het |
| Lrrfip2 |
T |
C |
9: 111,034,917 (GRCm39) |
|
probably null |
Het |
| Ly6g6d |
T |
C |
17: 35,293,226 (GRCm39) |
I40V |
probably benign |
Het |
| Mlh3 |
G |
A |
12: 85,313,510 (GRCm39) |
T892I |
probably benign |
Het |
| Mmp19 |
C |
T |
10: 128,634,011 (GRCm39) |
T304I |
probably damaging |
Het |
| Mmp28 |
T |
C |
11: 83,334,602 (GRCm39) |
D384G |
possibly damaging |
Het |
| Moxd1 |
T |
C |
10: 24,120,286 (GRCm39) |
|
probably null |
Het |
| Ncapg |
T |
C |
5: 45,828,477 (GRCm39) |
V76A |
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,005,774 (GRCm39) |
R165C |
probably benign |
Het |
| Or1e1c |
T |
C |
11: 73,265,578 (GRCm39) |
M1T |
probably null |
Het |
| Or2a57 |
A |
G |
6: 43,212,559 (GRCm39) |
T6A |
possibly damaging |
Het |
| Pik3c2a |
T |
A |
7: 115,975,485 (GRCm39) |
H694L |
possibly damaging |
Het |
| Psme2 |
A |
G |
14: 55,827,128 (GRCm39) |
L60P |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,237,175 (GRCm39) |
V4A |
probably benign |
Het |
| Rgr |
G |
T |
14: 36,766,566 (GRCm39) |
T160K |
probably damaging |
Het |
| Serpind1 |
A |
G |
16: 17,154,787 (GRCm39) |
I205V |
probably benign |
Het |
| Skap2 |
T |
C |
6: 51,898,280 (GRCm39) |
Y150C |
probably damaging |
Het |
| Srsf9 |
T |
C |
5: 115,470,187 (GRCm39) |
S122P |
probably damaging |
Het |
| Stox1 |
T |
G |
10: 62,500,461 (GRCm39) |
I700L |
probably benign |
Het |
| Tada1 |
A |
G |
1: 166,216,294 (GRCm39) |
D165G |
probably damaging |
Het |
| Traf5 |
A |
G |
1: 191,731,828 (GRCm39) |
S338P |
probably benign |
Het |
| Trim39 |
G |
A |
17: 36,574,617 (GRCm39) |
|
probably benign |
Het |
| Wbp2 |
G |
A |
11: 115,972,066 (GRCm39) |
A130V |
possibly damaging |
Het |
| Zcchc17 |
T |
C |
4: 130,230,902 (GRCm39) |
K96E |
probably benign |
Het |
| Zfp800 |
G |
A |
6: 28,242,983 (GRCm39) |
L661F |
possibly damaging |
Het |
|
| Other mutations in Mtcl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Mtcl3
|
APN |
10 |
29,072,469 (GRCm39) |
nonsense |
probably null |
|
|
IGL00929:Mtcl3
|
APN |
10 |
29,024,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01450:Mtcl3
|
APN |
10 |
29,072,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Mtcl3
|
APN |
10 |
29,074,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0534:Mtcl3
|
UTSW |
10 |
29,056,952 (GRCm39) |
splice site |
probably benign |
|
|
R1355:Mtcl3
|
UTSW |
10 |
29,023,318 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1450:Mtcl3
|
UTSW |
10 |
29,023,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1654:Mtcl3
|
UTSW |
10 |
29,022,931 (GRCm39) |
splice site |
probably null |
|
|
R1680:Mtcl3
|
UTSW |
10 |
29,072,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2134:Mtcl3
|
UTSW |
10 |
29,072,395 (GRCm39) |
nonsense |
probably null |
|
|
R2570:Mtcl3
|
UTSW |
10 |
29,022,761 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4395:Mtcl3
|
UTSW |
10 |
29,023,351 (GRCm39) |
missense |
probably benign |
|
|
R4859:Mtcl3
|
UTSW |
10 |
29,026,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4883:Mtcl3
|
UTSW |
10 |
29,072,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4884:Mtcl3
|
UTSW |
10 |
29,072,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5288:Mtcl3
|
UTSW |
10 |
29,072,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5335:Mtcl3
|
UTSW |
10 |
29,023,102 (GRCm39) |
missense |
probably benign |
|
|
R5384:Mtcl3
|
UTSW |
10 |
29,072,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5385:Mtcl3
|
UTSW |
10 |
29,072,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5457:Mtcl3
|
UTSW |
10 |
29,072,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5813:Mtcl3
|
UTSW |
10 |
29,026,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5819:Mtcl3
|
UTSW |
10 |
29,073,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5950:Mtcl3
|
UTSW |
10 |
29,019,644 (GRCm39) |
unclassified |
probably benign |
|
|
R6567:Mtcl3
|
UTSW |
10 |
29,023,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7312:Mtcl3
|
UTSW |
10 |
29,073,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Mtcl3
|
UTSW |
10 |
29,072,875 (GRCm39) |
nonsense |
probably null |
|
|
R7445:Mtcl3
|
UTSW |
10 |
29,072,999 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7481:Mtcl3
|
UTSW |
10 |
29,072,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7609:Mtcl3
|
UTSW |
10 |
29,024,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7616:Mtcl3
|
UTSW |
10 |
29,022,574 (GRCm39) |
start gained |
probably benign |
|
|
R7665:Mtcl3
|
UTSW |
10 |
29,072,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8125:Mtcl3
|
UTSW |
10 |
29,072,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8153:Mtcl3
|
UTSW |
10 |
29,024,235 (GRCm39) |
nonsense |
probably null |
|
|
R8220:Mtcl3
|
UTSW |
10 |
29,023,264 (GRCm39) |
nonsense |
probably null |
|
|
R8260:Mtcl3
|
UTSW |
10 |
29,024,270 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8749:Mtcl3
|
UTSW |
10 |
29,072,721 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9225:Mtcl3
|
UTSW |
10 |
29,072,327 (GRCm39) |
nonsense |
probably null |
|
|
R9364:Mtcl3
|
UTSW |
10 |
29,072,775 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9484:Mtcl3
|
UTSW |
10 |
29,072,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9518:Mtcl3
|
UTSW |
10 |
29,022,748 (GRCm39) |
missense |
probably benign |
|
|
R9546:Mtcl3
|
UTSW |
10 |
29,022,805 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9688:Mtcl3
|
UTSW |
10 |
29,072,691 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9742:Mtcl3
|
UTSW |
10 |
29,024,394 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9748:Mtcl3
|
UTSW |
10 |
29,024,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation