Incidental Mutation 'R5819:Mtcl3'
| ID |
449232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtcl3
|
| Ensembl Gene |
ENSMUSG00000038916 |
| Gene Name |
MTCL family member 3 |
| Synonyms |
Soga3, 6330407J23Rik |
| MMRRC Submission |
043399-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R5819 (G1)
|
| Quality Score |
113 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
29019992-29075626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29073269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 854
(M854L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092629]
[ENSMUST00000217011]
|
| AlphaFold |
Q6NZL0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092629
AA Change: M854L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000090293
Gene: ENSMUSG00000038916
AA Change: M854L
| 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 |
noncoding transcript
Transcript: ENSMUST00000213451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214863
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217011
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
T |
3: 121,930,630 (GRCm39) |
I1376F |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,488,129 (GRCm39) |
N673D |
possibly damaging |
Het |
| Avil |
T |
C |
10: 126,845,867 (GRCm39) |
F372S |
probably damaging |
Het |
| Bltp1 |
A |
T |
3: 37,102,749 (GRCm39) |
M4863L |
probably benign |
Het |
| Bod1l |
T |
A |
5: 41,989,948 (GRCm39) |
E258D |
probably benign |
Het |
| Chek1 |
T |
A |
9: 36,621,701 (GRCm39) |
H420L |
probably benign |
Het |
| Cyfip1 |
A |
G |
7: 55,528,899 (GRCm39) |
I260M |
probably damaging |
Het |
| Dclk1 |
G |
A |
3: 55,397,285 (GRCm39) |
V524I |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,042,965 (GRCm39) |
M102V |
probably benign |
Het |
| Erc2 |
T |
A |
14: 27,863,326 (GRCm39) |
I517N |
probably damaging |
Het |
| Fubp1 |
T |
C |
3: 151,926,190 (GRCm39) |
I305T |
probably damaging |
Het |
| Galc |
T |
A |
12: 98,182,520 (GRCm39) |
D443V |
probably benign |
Het |
| Galnt4 |
T |
A |
10: 98,945,892 (GRCm39) |
I539N |
probably damaging |
Het |
| Gm17093 |
G |
T |
14: 44,758,986 (GRCm39) |
M169I |
unknown |
Het |
| Htra1 |
T |
C |
7: 130,583,469 (GRCm39) |
F363S |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,876 (GRCm39) |
K275N |
probably benign |
Het |
| Klhdc8b |
G |
A |
9: 108,328,261 (GRCm39) |
P64S |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,614,130 (GRCm39) |
|
probably null |
Het |
| Mettl21c |
T |
G |
1: 44,048,882 (GRCm39) |
K222Q |
probably damaging |
Het |
| Mga |
A |
C |
2: 119,771,744 (GRCm39) |
M1535L |
possibly damaging |
Het |
| Mov10 |
C |
T |
3: 104,708,828 (GRCm39) |
G395D |
probably damaging |
Het |
| Ms4a10 |
C |
A |
19: 10,946,054 (GRCm39) |
A26S |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,159,684 (GRCm39) |
N372D |
possibly damaging |
Het |
| Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
| Or4f52 |
A |
T |
2: 111,061,304 (GRCm39) |
I278N |
probably damaging |
Het |
| Osmr |
C |
A |
15: 6,845,268 (GRCm39) |
V833L |
probably benign |
Het |
| Phf14 |
A |
G |
6: 11,997,251 (GRCm39) |
|
probably null |
Het |
| Pjvk |
A |
G |
2: 76,488,713 (GRCm39) |
I295V |
probably benign |
Het |
| Plppr4 |
T |
A |
3: 117,119,513 (GRCm39) |
I299L |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 31,563,072 (GRCm39) |
S110P |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,555,744 (GRCm39) |
|
probably benign |
Het |
| Rarb |
T |
G |
14: 16,443,820 (GRCm38) |
N156T |
possibly damaging |
Het |
| Rgl3 |
A |
T |
9: 21,892,898 (GRCm39) |
|
probably null |
Het |
| Ruvbl1 |
A |
C |
6: 88,460,097 (GRCm39) |
|
probably null |
Het |
| S1pr1 |
G |
T |
3: 115,505,789 (GRCm39) |
C268* |
probably null |
Het |
| Sbk3 |
T |
C |
7: 4,972,996 (GRCm39) |
D58G |
probably benign |
Het |
| Scgb2b3 |
T |
A |
7: 31,059,639 (GRCm39) |
H45L |
possibly damaging |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Tas2r119 |
T |
C |
15: 32,177,452 (GRCm39) |
L6P |
probably damaging |
Het |
| Tcp11 |
A |
T |
17: 28,288,210 (GRCm39) |
F339L |
probably damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,039 (GRCm39) |
Y19C |
probably damaging |
Het |
| Tmprss5 |
T |
A |
9: 49,025,779 (GRCm39) |
|
probably null |
Het |
| Trnau1ap |
A |
G |
4: 132,052,521 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
G |
A |
2: 121,038,873 (GRCm39) |
R1397* |
probably null |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,321,966 (GRCm39) |
M244L |
possibly damaging |
Het |
| Zfp777 |
C |
T |
6: 48,014,522 (GRCm39) |
E395K |
probably damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,171,935 (GRCm39) |
S156G |
probably benign |
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 |
|
IGL01462:Mtcl3
|
APN |
10 |
29,024,254 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAAGCGATGATGACTCCC -3'
(R):5'- TGACTCACGGATATGGGCTC -3'
Sequencing Primer
(F):5'- ATGATGACTCCCGGCCTC -3'
(R):5'- TCACGGATATGGGCTCCTCTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation