Incidental Mutation 'R6304:Mtcl2'
| ID |
509182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtcl2
|
| Ensembl Gene |
ENSMUSG00000055485 |
| Gene Name |
microtubule crosslinking factor 2 |
| Synonyms |
9830001H06Rik, D430036N24Rik, Soga1 |
| MMRRC Submission |
044380-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.388)
|
| Stock # |
R6304 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
156857719-156921174 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156882684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 456
(N456S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069098]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069098
AA Change: N456S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066556
Gene: ENSMUSG00000055485
AA Change: N456S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
174 |
N/A |
INTRINSIC |
|
Blast:BRLZ
|
212 |
246 |
4e-8 |
BLAST |
|
SCOP:d1fxkc_
|
216 |
350 |
1e-3 |
SMART |
|
Pfam:DUF3166
|
378 |
472 |
2.3e-31 |
PFAM |
|
Pfam:DUF3166
|
504 |
593 |
5.3e-31 |
PFAM |
|
low complexity region
|
637 |
649 |
N/A |
INTRINSIC |
|
coiled coil region
|
807 |
867 |
N/A |
INTRINSIC |
|
low complexity region
|
872 |
884 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
950 |
N/A |
INTRINSIC |
|
Pfam:DUF4482
|
1065 |
1205 |
3.9e-28 |
PFAM |
|
low complexity region
|
1311 |
1321 |
N/A |
INTRINSIC |
|
low complexity region
|
1363 |
1377 |
N/A |
INTRINSIC |
|
low complexity region
|
1389 |
1418 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133571
|
| Meta Mutation Damage Score |
0.0788 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9b |
T |
A |
15: 77,619,504 (GRCm39) |
V100E |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,374,625 (GRCm39) |
D218G |
possibly damaging |
Het |
| Cbll1 |
A |
G |
12: 31,544,588 (GRCm39) |
|
probably null |
Het |
| Cped1 |
A |
T |
6: 22,016,922 (GRCm39) |
R90S |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,108,688 (GRCm39) |
L1905Q |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,944,553 (GRCm39) |
E266G |
probably benign |
Het |
| Elapor1 |
A |
C |
3: 108,368,572 (GRCm39) |
C806W |
probably damaging |
Het |
| Etaa1 |
A |
C |
11: 17,897,505 (GRCm39) |
M204R |
probably damaging |
Het |
| G6pc1 |
A |
G |
11: 101,258,735 (GRCm39) |
D38G |
probably damaging |
Het |
| Gramd4 |
A |
G |
15: 86,019,120 (GRCm39) |
E596G |
possibly damaging |
Het |
| Ifna5 |
T |
C |
4: 88,754,147 (GRCm39) |
V129A |
probably benign |
Het |
| Igsf9b |
C |
T |
9: 27,253,871 (GRCm39) |
R1354W |
probably benign |
Het |
| Kcnh3 |
T |
C |
15: 99,124,919 (GRCm39) |
V123A |
probably benign |
Het |
| Kcnh7 |
A |
T |
2: 62,594,960 (GRCm39) |
Y703* |
probably null |
Het |
| Kdm2b |
A |
G |
5: 123,019,807 (GRCm39) |
S260P |
probably benign |
Het |
| Kdm6b |
G |
T |
11: 69,295,084 (GRCm39) |
T1061K |
unknown |
Het |
| Lingo4 |
G |
A |
3: 94,310,513 (GRCm39) |
G484R |
probably damaging |
Het |
| Lpar1 |
T |
C |
4: 58,487,013 (GRCm39) |
Y86C |
probably damaging |
Het |
| Lrrc10b |
T |
C |
19: 10,434,342 (GRCm39) |
Q113R |
probably benign |
Het |
| Lrrc8c |
A |
T |
5: 105,756,475 (GRCm39) |
N750I |
probably benign |
Het |
| Miip |
T |
C |
4: 147,947,540 (GRCm39) |
M207V |
probably benign |
Het |
| Mup4 |
T |
C |
4: 59,960,084 (GRCm39) |
H60R |
possibly damaging |
Het |
| Naip5 |
C |
T |
13: 100,359,674 (GRCm39) |
A521T |
possibly damaging |
Het |
| Nrp2 |
T |
C |
1: 62,784,565 (GRCm39) |
L238P |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,147,526 (GRCm39) |
S262P |
probably damaging |
Het |
| Or51k1 |
G |
A |
7: 103,661,238 (GRCm39) |
L224F |
probably damaging |
Het |
| Osbpl3 |
A |
G |
6: 50,289,654 (GRCm39) |
S604P |
probably damaging |
Het |
| Pcdhb6 |
C |
T |
18: 37,468,974 (GRCm39) |
R632* |
probably null |
Het |
| Pcdhb9 |
T |
A |
18: 37,534,420 (GRCm39) |
V138E |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,727,907 (GRCm39) |
|
probably benign |
Het |
| Phyhipl |
A |
G |
10: 70,395,387 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
A |
G |
2: 160,603,383 (GRCm39) |
T1185A |
possibly damaging |
Het |
| Pomt1 |
T |
A |
2: 32,140,802 (GRCm39) |
L478Q |
probably damaging |
Het |
| Robo2 |
T |
A |
16: 73,755,196 (GRCm39) |
Y779F |
probably damaging |
Het |
| Sesn3 |
A |
T |
9: 14,233,857 (GRCm39) |
|
probably null |
Het |
| Sh3gl1 |
A |
T |
17: 56,343,431 (GRCm39) |
F10Y |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,126,202 (GRCm39) |
K2269N |
possibly damaging |
Het |
| Spsb1 |
C |
T |
4: 149,991,188 (GRCm39) |
V127I |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,940,412 (GRCm39) |
I297T |
probably damaging |
Het |
| Trim14 |
C |
A |
4: 46,522,118 (GRCm39) |
M186I |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,746,079 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,721,443 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
T |
C |
14: 20,611,036 (GRCm39) |
D1260G |
possibly damaging |
Het |
| Vmn1r3 |
T |
A |
4: 3,184,975 (GRCm39) |
T111S |
probably damaging |
Het |
| Vmn2r51 |
T |
C |
7: 9,832,164 (GRCm39) |
Q474R |
probably benign |
Het |
|
| Other mutations in Mtcl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Mtcl2
|
APN |
2 |
156,872,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00924:Mtcl2
|
APN |
2 |
156,882,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01723:Mtcl2
|
APN |
2 |
156,872,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01749:Mtcl2
|
APN |
2 |
156,863,461 (GRCm39) |
splice site |
probably benign |
|
|
IGL02199:Mtcl2
|
APN |
2 |
156,872,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02262:Mtcl2
|
APN |
2 |
156,872,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02618:Mtcl2
|
APN |
2 |
156,882,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02643:Mtcl2
|
APN |
2 |
156,882,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
deglutition
|
UTSW |
2 |
156,881,784 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
gulp
|
UTSW |
2 |
156,865,737 (GRCm39) |
nonsense |
probably null |
|
|
IGL02835:Mtcl2
|
UTSW |
2 |
156,883,854 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0528:Mtcl2
|
UTSW |
2 |
156,862,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0535:Mtcl2
|
UTSW |
2 |
156,875,209 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0726:Mtcl2
|
UTSW |
2 |
156,902,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Mtcl2
|
UTSW |
2 |
156,862,368 (GRCm39) |
nonsense |
probably null |
|
|
R1589:Mtcl2
|
UTSW |
2 |
156,869,557 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1615:Mtcl2
|
UTSW |
2 |
156,862,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Mtcl2
|
UTSW |
2 |
156,872,450 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1701:Mtcl2
|
UTSW |
2 |
156,872,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Mtcl2
|
UTSW |
2 |
156,882,181 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2056:Mtcl2
|
UTSW |
2 |
156,864,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2118:Mtcl2
|
UTSW |
2 |
156,875,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2120:Mtcl2
|
UTSW |
2 |
156,875,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2121:Mtcl2
|
UTSW |
2 |
156,875,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Mtcl2
|
UTSW |
2 |
156,875,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2249:Mtcl2
|
UTSW |
2 |
156,882,013 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3147:Mtcl2
|
UTSW |
2 |
156,862,284 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3758:Mtcl2
|
UTSW |
2 |
156,862,558 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4601:Mtcl2
|
UTSW |
2 |
156,881,844 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4646:Mtcl2
|
UTSW |
2 |
156,862,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:Mtcl2
|
UTSW |
2 |
156,882,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4736:Mtcl2
|
UTSW |
2 |
156,862,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4773:Mtcl2
|
UTSW |
2 |
156,872,489 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4796:Mtcl2
|
UTSW |
2 |
156,862,172 (GRCm39) |
missense |
probably benign |
|
|
R4999:Mtcl2
|
UTSW |
2 |
156,864,776 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5304:Mtcl2
|
UTSW |
2 |
156,865,737 (GRCm39) |
nonsense |
probably null |
|
|
R5369:Mtcl2
|
UTSW |
2 |
156,882,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5530:Mtcl2
|
UTSW |
2 |
156,862,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5712:Mtcl2
|
UTSW |
2 |
156,872,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5780:Mtcl2
|
UTSW |
2 |
156,860,410 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6162:Mtcl2
|
UTSW |
2 |
156,881,784 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6253:Mtcl2
|
UTSW |
2 |
156,863,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6303:Mtcl2
|
UTSW |
2 |
156,882,684 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6523:Mtcl2
|
UTSW |
2 |
156,902,263 (GRCm39) |
nonsense |
probably null |
|
|
R7216:Mtcl2
|
UTSW |
2 |
156,860,290 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7335:Mtcl2
|
UTSW |
2 |
156,872,925 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7562:Mtcl2
|
UTSW |
2 |
156,895,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Mtcl2
|
UTSW |
2 |
156,882,776 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7788:Mtcl2
|
UTSW |
2 |
156,869,504 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8013:Mtcl2
|
UTSW |
2 |
156,872,706 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8263:Mtcl2
|
UTSW |
2 |
156,869,510 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8299:Mtcl2
|
UTSW |
2 |
156,862,651 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8814:Mtcl2
|
UTSW |
2 |
156,872,451 (GRCm39) |
nonsense |
probably null |
|
|
R9222:Mtcl2
|
UTSW |
2 |
156,881,919 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9563:Mtcl2
|
UTSW |
2 |
156,902,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Mtcl2
|
UTSW |
2 |
156,869,488 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9645:Mtcl2
|
UTSW |
2 |
156,869,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9690:Mtcl2
|
UTSW |
2 |
156,862,134 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9727:Mtcl2
|
UTSW |
2 |
156,862,168 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
X0019:Mtcl2
|
UTSW |
2 |
156,862,184 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCAGCAACTTGTTCTGG -3'
(R):5'- GCTCACCAAGTTGGCTAAGG -3'
Sequencing Primer
(F):5'- TCTTCCACGAACTGCAGGTG -3'
(R):5'- CTCACCAAGTTGGCTAAGGAGAAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation