Incidental Mutation 'R8299:Mtcl2'
| ID |
639122 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtcl2
|
| Ensembl Gene |
ENSMUSG00000055485 |
| Gene Name |
microtubule crosslinking factor 2 |
| Synonyms |
9830001H06Rik, D430036N24Rik, Soga1 |
| MMRRC Submission |
067787-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.388)
|
| Stock # |
R8299 (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 G
at 156862651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 1426
(E1426A)
|
| 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: E1426A
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066556
Gene: ENSMUSG00000055485
AA Change: E1426A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
C |
A |
10: 69,811,981 (GRCm39) |
P1216Q |
probably damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,599,900 (GRCm39) |
Y164H |
|
Het |
| Atp13a3 |
A |
C |
16: 30,152,619 (GRCm39) |
F1021C |
probably damaging |
Het |
| Bcl9 |
T |
C |
3: 97,112,852 (GRCm39) |
D1201G |
probably damaging |
Het |
| Bora |
G |
A |
14: 99,305,570 (GRCm39) |
R313Q |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,847,278 (GRCm39) |
Y444H |
probably benign |
Het |
| Cep70 |
A |
T |
9: 99,144,914 (GRCm39) |
M87L |
possibly damaging |
Het |
| Clstn3 |
A |
G |
6: 124,414,332 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
G |
A |
8: 113,500,324 (GRCm39) |
G539S |
probably damaging |
Het |
| Csf2rb |
T |
A |
15: 78,230,669 (GRCm39) |
Y471N |
possibly damaging |
Het |
| Dctn4 |
T |
A |
18: 60,678,872 (GRCm39) |
I197N |
probably benign |
Het |
| Ednrb |
A |
G |
14: 104,060,936 (GRCm39) |
L163P |
probably damaging |
Het |
| Elovl2 |
T |
C |
13: 41,345,396 (GRCm39) |
N101D |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,748,874 (GRCm39) |
I404K |
possibly damaging |
Het |
| Gadd45a |
A |
G |
6: 67,014,183 (GRCm39) |
|
probably null |
Het |
| Gfod2 |
T |
C |
8: 106,454,794 (GRCm39) |
T29A |
probably benign |
Het |
| Hltf |
A |
G |
3: 20,136,986 (GRCm39) |
K408E |
possibly damaging |
Het |
| Inf2 |
A |
G |
12: 112,570,546 (GRCm39) |
T362A |
probably benign |
Het |
| Klhl12 |
G |
A |
1: 134,416,678 (GRCm39) |
G467R |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,557,443 (GRCm39) |
|
probably benign |
Het |
| Mcee |
G |
A |
7: 64,061,621 (GRCm39) |
E29K |
unknown |
Het |
| Mki67 |
A |
T |
7: 135,306,349 (GRCm39) |
I571N |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,650,088 (GRCm39) |
Y290H |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,576,271 (GRCm39) |
T1924A |
unknown |
Het |
| Myh14 |
T |
A |
7: 44,276,472 (GRCm39) |
D1170V |
probably damaging |
Het |
| Or10al5 |
G |
T |
17: 38,062,891 (GRCm39) |
E49* |
probably null |
Het |
| Or51a6 |
T |
C |
7: 102,604,739 (GRCm39) |
E30G |
probably damaging |
Het |
| Or55b4 |
T |
C |
7: 102,133,409 (GRCm39) |
H306R |
probably benign |
Het |
| Or6c66 |
T |
C |
10: 129,461,829 (GRCm39) |
I34V |
probably benign |
Het |
| Pcdhb17 |
T |
C |
18: 37,618,408 (GRCm39) |
I66T |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,445,330 (GRCm39) |
V3734A |
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,177,396 (GRCm39) |
L576P |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,663,041 (GRCm39) |
N1203Y |
probably benign |
Het |
| Pramel16 |
T |
C |
4: 143,677,327 (GRCm39) |
N84S |
probably benign |
Het |
| Prkn |
T |
G |
17: 11,456,408 (GRCm39) |
S77R |
probably benign |
Het |
| Rev3l |
C |
T |
10: 39,697,537 (GRCm39) |
S678L |
probably benign |
Het |
| Rims3 |
T |
C |
4: 120,746,569 (GRCm39) |
Y197H |
probably damaging |
Het |
| S1pr4 |
A |
G |
10: 81,335,267 (GRCm39) |
M69T |
probably benign |
Het |
| Sf3a1 |
T |
C |
11: 4,129,420 (GRCm39) |
Y757H |
possibly damaging |
Het |
| Slc30a9 |
T |
A |
5: 67,484,248 (GRCm39) |
N128K |
probably damaging |
Het |
| Slc35a4 |
T |
C |
18: 36,815,980 (GRCm39) |
V270A |
possibly damaging |
Het |
| Speg |
A |
C |
1: 75,364,480 (GRCm39) |
D287A |
possibly damaging |
Het |
| St18 |
T |
C |
1: 6,873,216 (GRCm39) |
V317A |
probably benign |
Het |
| Stk11 |
G |
T |
10: 79,963,867 (GRCm39) |
E350D |
probably benign |
Het |
| Strn3 |
A |
G |
12: 51,694,890 (GRCm39) |
L291S |
probably damaging |
Het |
| Susd1 |
C |
T |
4: 59,315,773 (GRCm39) |
V733I |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,105,502 (GRCm39) |
R173G |
probably benign |
Het |
| Tmem115 |
T |
C |
9: 107,411,745 (GRCm39) |
V23A |
possibly damaging |
Het |
| Top2b |
A |
G |
14: 16,386,123 (GRCm38) |
N110D |
possibly damaging |
Het |
| Wfikkn2 |
C |
T |
11: 94,129,890 (GRCm39) |
V84M |
probably damaging |
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 |
|
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 |
|
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'- TCCTCAGTACAGGGCTATCC -3'
(R):5'- AGGAGATCACCAACTGCGTG -3'
Sequencing Primer
(F):5'- CTATCCCGTGTGGTGGTGGAG -3'
(R):5'- ACATCCAGCCAGACGGTAGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation