Incidental Mutation 'R1355:Mtcl3'
| ID |
156288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtcl3
|
| Ensembl Gene |
ENSMUSG00000038916 |
| Gene Name |
MTCL family member 3 |
| Synonyms |
Soga3, 6330407J23Rik |
| MMRRC Submission |
039420-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R1355 (G1)
|
| Quality Score |
162 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
29019992-29075626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29023318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 222
(T222S)
|
| 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: T222S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000090293
Gene: ENSMUSG00000038916
AA Change: T222S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.4%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,224,565 (GRCm39) |
D781G |
possibly damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,260,846 (GRCm39) |
F1424I |
probably damaging |
Het |
| Atp10b |
G |
A |
11: 43,042,482 (GRCm39) |
W14* |
probably null |
Het |
| B4galnt4 |
T |
C |
7: 140,645,308 (GRCm39) |
V259A |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,860,945 (GRCm39) |
I944N |
probably damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,526,240 (GRCm39) |
D224E |
probably damaging |
Het |
| Ccne1 |
A |
G |
7: 37,805,747 (GRCm39) |
I43T |
possibly damaging |
Het |
| Cd226 |
T |
A |
18: 89,265,147 (GRCm39) |
S29T |
probably benign |
Het |
| Cebpz |
G |
T |
17: 79,242,753 (GRCm39) |
D300E |
probably benign |
Het |
| Cryzl1 |
A |
G |
16: 91,489,546 (GRCm39) |
V266A |
possibly damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,729,400 (GRCm39) |
L29P |
probably damaging |
Het |
| Dennd3 |
A |
C |
15: 73,412,703 (GRCm39) |
|
probably benign |
Het |
| Dpy19l4 |
C |
T |
4: 11,303,371 (GRCm39) |
W183* |
probably null |
Het |
| Eml6 |
T |
G |
11: 29,783,085 (GRCm39) |
S599R |
probably benign |
Het |
| Erc1 |
A |
T |
6: 119,720,381 (GRCm39) |
L440* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,417,331 (GRCm39) |
Y2012C |
probably damaging |
Het |
| Garin5a |
A |
G |
7: 44,146,115 (GRCm39) |
K2E |
possibly damaging |
Het |
| Gm10288 |
A |
T |
3: 146,544,748 (GRCm39) |
|
noncoding transcript |
Het |
| Gm1110 |
T |
A |
9: 26,795,057 (GRCm39) |
K476N |
probably benign |
Het |
| Gm11937 |
A |
T |
11: 99,500,733 (GRCm39) |
S95T |
possibly damaging |
Het |
| H2bc13 |
T |
A |
13: 21,900,027 (GRCm39) |
Q96L |
probably damaging |
Het |
| Hs6st1 |
T |
A |
1: 36,142,657 (GRCm39) |
H197Q |
probably damaging |
Het |
| Ism1 |
A |
T |
2: 139,573,994 (GRCm39) |
I115F |
possibly damaging |
Het |
| Itgb8 |
C |
T |
12: 119,134,738 (GRCm39) |
G443E |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,795,954 (GRCm39) |
I1274F |
possibly damaging |
Het |
| Lrrcc1 |
G |
T |
3: 14,613,174 (GRCm39) |
V299L |
probably benign |
Het |
| Mettl5 |
A |
T |
2: 69,711,764 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
G |
T |
7: 5,330,490 (GRCm39) |
N635K |
possibly damaging |
Het |
| Or4c3d |
G |
A |
2: 89,881,957 (GRCm39) |
T237I |
probably benign |
Het |
| Or5ac16 |
A |
G |
16: 59,022,043 (GRCm39) |
S249P |
probably damaging |
Het |
| Or5b112 |
T |
A |
19: 13,319,882 (GRCm39) |
Y253* |
probably null |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,297,748 (GRCm39) |
|
probably benign |
Het |
| Ppp4r1 |
A |
T |
17: 66,147,982 (GRCm39) |
E924D |
probably benign |
Het |
| Prdm2 |
C |
T |
4: 142,858,533 (GRCm39) |
V1586I |
probably benign |
Het |
| Pros1 |
A |
G |
16: 62,739,921 (GRCm39) |
K457E |
probably benign |
Het |
| Rer1 |
T |
A |
4: 155,160,081 (GRCm39) |
M156L |
probably benign |
Het |
| Rgs16 |
A |
T |
1: 153,619,414 (GRCm39) |
K140M |
probably damaging |
Het |
| Rgsl1 |
A |
G |
1: 153,683,507 (GRCm39) |
M1T |
probably null |
Het |
| Setdb2 |
T |
A |
14: 59,654,890 (GRCm39) |
K333N |
probably damaging |
Het |
| Sgo2a |
A |
G |
1: 58,057,124 (GRCm39) |
T1103A |
possibly damaging |
Het |
| Sik3 |
C |
T |
9: 46,107,170 (GRCm39) |
|
probably benign |
Het |
| Slc44a3 |
C |
A |
3: 121,325,320 (GRCm39) |
G47V |
probably damaging |
Het |
| Snrpd1 |
G |
A |
18: 10,627,818 (GRCm39) |
G103D |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,425,560 (GRCm39) |
S60R |
probably benign |
Het |
| Susd1 |
C |
T |
4: 59,424,114 (GRCm39) |
C37Y |
possibly damaging |
Het |
| Tiam1 |
A |
T |
16: 89,695,109 (GRCm39) |
I116N |
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,219,496 (GRCm39) |
S492G |
possibly damaging |
Het |
| Uckl1 |
G |
T |
2: 181,215,169 (GRCm39) |
T213K |
probably damaging |
Het |
| Usp38 |
T |
C |
8: 81,711,662 (GRCm39) |
E791G |
possibly damaging |
Het |
| Vps13b |
C |
T |
15: 35,422,600 (GRCm39) |
R187C |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,383,334 (GRCm39) |
Y645C |
probably damaging |
Het |
| Wasf3 |
T |
C |
5: 146,407,018 (GRCm39) |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACCCAAAGGGGCTGTTCCCG -3'
(R):5'- TACAAGGGGCTCACAGATGGCTGG -3'
Sequencing Primer
(F):5'- TCCGCTCgggggagtag -3'
(R):5'- GCCGCCACCGTTTTTAGTG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation