Incidental Mutation 'R5780:Mtcl2'
ID |
446917 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtcl2
|
Ensembl Gene |
ENSMUSG00000055485 |
Gene Name |
microtubule crosslinking factor 2 |
Synonyms |
9830001H06Rik, D430036N24Rik, Soga1 |
MMRRC Submission |
043205-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.388)
|
Stock # |
R5780 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
156857719-156921174 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 156860410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 1610
(C1610R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069098]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069098
AA Change: C1610R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000066556 Gene: ENSMUSG00000055485 AA Change: C1610R
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: ENSMUST00000153229
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630001G21Rik |
C |
T |
1: 85,646,039 (GRCm39) |
A189T |
probably benign |
Het |
Acsm4 |
A |
G |
7: 119,293,068 (GRCm39) |
E66G |
possibly damaging |
Het |
Afm |
A |
G |
5: 90,699,290 (GRCm39) |
E578G |
possibly damaging |
Het |
Alox5 |
A |
T |
6: 116,397,310 (GRCm39) |
D291E |
probably benign |
Het |
Apoa4 |
A |
G |
9: 46,153,890 (GRCm39) |
M164V |
possibly damaging |
Het |
Atp6v1a |
A |
T |
16: 43,935,006 (GRCm39) |
M61K |
probably benign |
Het |
Avp |
A |
G |
2: 130,422,629 (GRCm39) |
S159P |
probably benign |
Het |
Bicra |
A |
T |
7: 15,713,679 (GRCm39) |
L841Q |
possibly damaging |
Het |
Cdk5rap1 |
CTT |
CT |
2: 154,187,788 (GRCm39) |
|
probably null |
Het |
Clasp2 |
T |
G |
9: 113,679,220 (GRCm39) |
L246R |
probably damaging |
Het |
Dhdds |
G |
A |
4: 133,724,141 (GRCm39) |
L58F |
probably damaging |
Het |
Dmkn |
A |
G |
7: 30,477,040 (GRCm39) |
D227G |
probably damaging |
Het |
Dnah7a |
G |
A |
1: 53,522,478 (GRCm39) |
A2920V |
probably benign |
Het |
Epb41l1 |
C |
T |
2: 156,338,445 (GRCm39) |
R163W |
probably damaging |
Het |
Etfbkmt |
T |
A |
6: 149,048,657 (GRCm39) |
Y99N |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,035,104 (GRCm39) |
Y2919H |
probably damaging |
Het |
Fcgbp |
T |
A |
7: 27,784,643 (GRCm39) |
D234E |
probably benign |
Het |
Frem1 |
T |
C |
4: 82,868,652 (GRCm39) |
D1443G |
probably benign |
Het |
Fscn2 |
A |
C |
11: 120,257,494 (GRCm39) |
E285A |
probably benign |
Het |
Hmga2 |
T |
A |
10: 120,298,583 (GRCm39) |
R79* |
probably null |
Het |
Hrh3 |
A |
T |
2: 179,742,608 (GRCm39) |
V308E |
probably damaging |
Het |
Hsd11b2 |
G |
A |
8: 106,248,787 (GRCm39) |
G93D |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,312,712 (GRCm39) |
F4151S |
probably damaging |
Het |
Ica1l |
C |
A |
1: 60,067,374 (GRCm39) |
E5D |
probably benign |
Het |
Kcnma1 |
C |
A |
14: 23,436,419 (GRCm39) |
E640* |
probably null |
Het |
Mdn1 |
C |
T |
4: 32,722,950 (GRCm39) |
H2422Y |
probably benign |
Het |
Mgarp |
T |
C |
3: 51,299,269 (GRCm39) |
T47A |
probably damaging |
Het |
Mmp13 |
T |
G |
9: 7,278,952 (GRCm39) |
F348V |
possibly damaging |
Het |
Mov10l1 |
A |
G |
15: 88,896,181 (GRCm39) |
D675G |
probably benign |
Het |
Nxpe3 |
T |
A |
16: 55,686,804 (GRCm39) |
Q68L |
probably damaging |
Het |
Or4k41 |
A |
T |
2: 111,280,178 (GRCm39) |
D231V |
probably benign |
Het |
Or6c208 |
T |
C |
10: 129,223,939 (GRCm39) |
S146P |
probably damaging |
Het |
Or7e175 |
T |
A |
9: 20,048,793 (GRCm39) |
M127K |
probably damaging |
Het |
Pald1 |
A |
T |
10: 61,174,997 (GRCm39) |
I751N |
probably damaging |
Het |
Pramel19 |
C |
T |
4: 101,798,724 (GRCm39) |
L232F |
probably damaging |
Het |
Prickle2 |
T |
C |
6: 92,435,593 (GRCm39) |
T3A |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,070,953 (GRCm39) |
C34S |
probably damaging |
Het |
Sema3f |
A |
G |
9: 107,559,788 (GRCm39) |
L702P |
probably damaging |
Het |
Sptbn2 |
T |
A |
19: 4,774,695 (GRCm39) |
L116Q |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,533,877 (GRCm39) |
V3378A |
probably benign |
Het |
Sycp2l |
A |
G |
13: 41,282,976 (GRCm39) |
I158V |
possibly damaging |
Het |
Tbc1d10b |
G |
A |
7: 126,797,925 (GRCm39) |
R739W |
possibly damaging |
Het |
Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
Ube4b |
C |
T |
4: 149,415,821 (GRCm39) |
R1091Q |
probably benign |
Het |
Vwce |
C |
A |
19: 10,627,983 (GRCm39) |
P481Q |
probably damaging |
Het |
Zfp1005 |
T |
A |
2: 150,108,139 (GRCm39) |
M33K |
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 |
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 |
R6304: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'- ATTCCTCCTGGATGGACTGAGG -3'
(R):5'- CTGTGCCTTGCAGACTTTATTAG -3'
Sequencing Primer
(F):5'- TGAGGACACGAGCCCTTG -3'
(R):5'- AGAATGTGGATCCATTGTTGCCC -3'
|
Posted On |
2016-12-15 |