Incidental Mutation 'R4395:Mtcl3'
ID |
325448 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtcl3
|
Ensembl Gene |
ENSMUSG00000038916 |
Gene Name |
MTCL family member 3 |
Synonyms |
Soga3, 6330407J23Rik |
MMRRC Submission |
041684-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R4395 (G1)
|
Quality Score |
135 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
29019992-29075626 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29023351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 233
(S233P)
|
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: S233P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000090293 Gene: ENSMUSG00000038916 AA Change: S233P
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 |
unknown
Transcript: ENSMUST00000213243
AA Change: S7P
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213451
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214863
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216757
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat1 |
A |
G |
4: 49,447,679 (GRCm39) |
Y283H |
probably benign |
Het |
Adamtsl5 |
A |
G |
10: 80,180,736 (GRCm39) |
C109R |
probably damaging |
Het |
Adgrg4 |
T |
G |
X: 55,977,703 (GRCm39) |
L2193V |
probably damaging |
Het |
Alpk3 |
C |
T |
7: 80,744,703 (GRCm39) |
S1266F |
probably damaging |
Het |
Arfgef3 |
A |
G |
10: 18,473,457 (GRCm39) |
L1614P |
probably damaging |
Het |
Atm |
T |
C |
9: 53,376,527 (GRCm39) |
R2038G |
probably benign |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Capza2 |
T |
C |
6: 17,656,449 (GRCm39) |
|
probably null |
Het |
Cfap43 |
T |
C |
19: 47,740,352 (GRCm39) |
T1274A |
probably benign |
Het |
Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
Cisd3 |
A |
G |
11: 97,579,212 (GRCm39) |
Y115C |
probably damaging |
Het |
Crebl2 |
A |
G |
6: 134,826,208 (GRCm39) |
E53G |
probably damaging |
Het |
Ech1 |
T |
C |
7: 28,525,671 (GRCm39) |
S107P |
probably damaging |
Het |
Fam3b |
C |
A |
16: 97,282,986 (GRCm39) |
|
probably null |
Het |
Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
Grm8 |
T |
A |
6: 27,429,431 (GRCm39) |
I488F |
probably damaging |
Het |
Hmga2 |
C |
T |
10: 120,311,956 (GRCm39) |
G5S |
probably damaging |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Ifit3b |
G |
T |
19: 34,589,951 (GRCm39) |
E376* |
probably null |
Het |
Ints5 |
A |
G |
19: 8,873,808 (GRCm39) |
E589G |
probably damaging |
Het |
Iqsec2 |
C |
T |
X: 150,992,049 (GRCm39) |
T562I |
probably damaging |
Het |
Lamc3 |
A |
G |
2: 31,821,964 (GRCm39) |
E1304G |
probably benign |
Het |
Ltv1 |
T |
C |
10: 13,066,323 (GRCm39) |
Y101C |
probably benign |
Het |
Maf1 |
T |
C |
15: 76,236,357 (GRCm39) |
|
probably benign |
Het |
Map3k13 |
A |
T |
16: 21,717,321 (GRCm39) |
K185N |
possibly damaging |
Het |
Mtus2 |
A |
T |
5: 148,013,432 (GRCm39) |
Q75L |
probably benign |
Het |
Nod2 |
T |
A |
8: 89,391,019 (GRCm39) |
F427Y |
probably damaging |
Het |
Or1s2 |
A |
T |
19: 13,758,275 (GRCm39) |
I100F |
probably benign |
Het |
Or5p51 |
A |
G |
7: 107,444,469 (GRCm39) |
L157P |
probably damaging |
Het |
Pik3cg |
T |
C |
12: 32,254,091 (GRCm39) |
D632G |
probably damaging |
Het |
Plekhs1 |
A |
G |
19: 56,468,326 (GRCm39) |
D298G |
probably benign |
Het |
Rbm34 |
T |
C |
8: 127,676,131 (GRCm39) |
T375A |
probably benign |
Het |
Slc4a7 |
C |
T |
14: 14,765,665 (GRCm38) |
T549I |
probably damaging |
Het |
Slco1a7 |
T |
C |
6: 141,657,844 (GRCm39) |
I565V |
probably benign |
Het |
Stk17b |
A |
G |
1: 53,803,274 (GRCm39) |
I47T |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,915,451 (GRCm39) |
V2028I |
probably benign |
Het |
Tle4 |
A |
T |
19: 14,495,302 (GRCm39) |
H142Q |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tnxb |
C |
T |
17: 34,897,636 (GRCm39) |
Q804* |
probably null |
Het |
Trpm2 |
T |
C |
10: 77,765,053 (GRCm39) |
I983V |
probably benign |
Het |
Ttll8 |
C |
T |
15: 88,799,783 (GRCm39) |
A553T |
possibly damaging |
Het |
Ubxn11 |
G |
T |
4: 133,843,431 (GRCm39) |
E171D |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATAGAATCCGGGCCCTCG -3'
(R):5'- ACTACAAGGGGCTCACAGATG -3'
Sequencing Primer
(F):5'- AATCCGGGCCCTCGAAAGTC -3'
(R):5'- TCACAGATGGCTGGAGCG -3'
|
Posted On |
2015-07-06 |