Incidental Mutation 'R6567:Mtcl3'
| ID |
522761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtcl3
|
| Ensembl Gene |
ENSMUSG00000038916 |
| Gene Name |
MTCL family member 3 |
| Synonyms |
Soga3, 6330407J23Rik |
| MMRRC Submission |
044691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R6567 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
29019992-29075626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 29023279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 209
(V209F)
|
| 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 benign
Transcript: ENSMUST00000092629
AA Change: V209F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000090293
Gene: ENSMUSG00000038916
AA Change: V209F
| 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
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,950 (GRCm39) |
T546A |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,986,170 (GRCm39) |
V2485L |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 142,976,974 (GRCm39) |
I722M |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,638,100 (GRCm39) |
I54T |
possibly damaging |
Het |
| Dennd2c |
C |
T |
3: 103,039,335 (GRCm39) |
A161V |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,992,246 (GRCm39) |
Y331H |
probably damaging |
Het |
| Dnaaf11 |
C |
T |
15: 66,310,228 (GRCm39) |
V347I |
probably benign |
Het |
| Dnajc2 |
G |
A |
5: 21,971,676 (GRCm39) |
R247W |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,773,946 (GRCm39) |
T380A |
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,576,508 (GRCm39) |
V1044A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,117,487 (GRCm39) |
H745R |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 191,959,412 (GRCm39) |
M322K |
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,632,275 (GRCm39) |
T191A |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,938,206 (GRCm39) |
|
probably null |
Het |
| Ncapd3 |
T |
C |
9: 26,978,300 (GRCm39) |
I833T |
possibly damaging |
Het |
| Nif3l1 |
T |
A |
1: 58,494,789 (GRCm39) |
C253S |
probably benign |
Het |
| Or52e2 |
A |
T |
7: 102,804,135 (GRCm39) |
I273K |
possibly damaging |
Het |
| Pate5 |
T |
A |
9: 35,750,411 (GRCm39) |
Y87F |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,278,189 (GRCm39) |
I584N |
probably damaging |
Het |
| Pms2 |
T |
C |
5: 143,865,786 (GRCm39) |
V50A |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,786,838 (GRCm39) |
I1268V |
probably benign |
Het |
| Scap |
C |
T |
9: 110,212,630 (GRCm39) |
R1021W |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,740,932 (GRCm39) |
Y618N |
probably damaging |
Het |
| Tesk2 |
C |
T |
4: 116,649,361 (GRCm39) |
A157V |
probably damaging |
Het |
| Tm6sf2 |
C |
A |
8: 70,528,174 (GRCm39) |
H108N |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,176,589 (GRCm39) |
V287A |
probably benign |
Het |
| Tsks |
A |
T |
7: 44,603,305 (GRCm39) |
Q369L |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,514,673 (GRCm39) |
T99A |
probably benign |
Het |
| Wbp11 |
C |
T |
6: 136,797,537 (GRCm39) |
S294N |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,628 (GRCm39) |
Y1104C |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,287,150 (GRCm39) |
S234T |
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 |
|
R5819:Mtcl3
|
UTSW |
10 |
29,073,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5950:Mtcl3
|
UTSW |
10 |
29,019,644 (GRCm39) |
unclassified |
probably benign |
|
|
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'- AAATAGAATCCGGGCCCTCG -3'
(R):5'- TACAAGGGGCTCACAGATGG -3'
Sequencing Primer
(F):5'- AATCCGGGCCCTCGAAAGTC -3'
(R):5'- TAGTGTGCATCTGAGCCGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation