Incidental Mutation 'R7335:Mtcl2'
| ID |
569416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtcl2
|
| Ensembl Gene |
ENSMUSG00000055485 |
| Gene Name |
microtubule crosslinking factor 2 |
| Synonyms |
9830001H06Rik, D430036N24Rik, Soga1 |
| MMRRC Submission |
045372-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
R7335 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156857719-156921174 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156872925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 862
(Q862R)
|
| 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: Q862R
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066556
Gene: ENSMUSG00000055485
AA Change: Q862R
| 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: 99.1%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
G |
11: 50,493,093 (GRCm39) |
S35G |
probably benign |
Het |
| Adcy6 |
G |
T |
15: 98,501,757 (GRCm39) |
Q286K |
probably benign |
Het |
| Agrn |
A |
G |
4: 156,260,989 (GRCm39) |
S676P |
probably damaging |
Het |
| Arpp21 |
A |
T |
9: 112,005,319 (GRCm39) |
|
probably null |
Het |
| Bmal2 |
A |
G |
6: 146,711,217 (GRCm39) |
M74V |
probably benign |
Het |
| C1rb |
A |
T |
6: 124,552,238 (GRCm39) |
I319F |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,071,810 (GRCm39) |
V629A |
|
Het |
| Cacna1i |
T |
G |
15: 80,259,776 (GRCm39) |
F1287C |
probably damaging |
Het |
| Catspere2 |
A |
G |
1: 177,926,074 (GRCm39) |
I247V |
probably benign |
Het |
| Cd101 |
C |
G |
3: 100,926,045 (GRCm39) |
A229P |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,140,895 (GRCm39) |
D3151G |
probably damaging |
Het |
| Cenpc1 |
C |
A |
5: 86,182,212 (GRCm39) |
K557N |
possibly damaging |
Het |
| Col6a4 |
G |
A |
9: 105,954,091 (GRCm39) |
T416M |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,628,451 (GRCm39) |
C164* |
probably null |
Het |
| Dop1b |
A |
G |
16: 93,544,396 (GRCm39) |
E179G |
probably benign |
Het |
| Duoxa2 |
A |
T |
2: 122,131,821 (GRCm39) |
Y170F |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,884,829 (GRCm39) |
K2569R |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,813,462 (GRCm39) |
H3260Q |
probably benign |
Het |
| Gm3402 |
T |
C |
5: 146,452,043 (GRCm39) |
I121T |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,853,773 (GRCm39) |
H606Q |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,282,169 (GRCm39) |
V1927A |
possibly damaging |
Het |
| Hnf4g |
A |
G |
3: 3,717,924 (GRCm39) |
H347R |
possibly damaging |
Het |
| Hs3st3a1 |
A |
G |
11: 64,411,163 (GRCm39) |
T234A |
probably benign |
Het |
| Hyal1 |
G |
T |
9: 107,456,359 (GRCm39) |
V379L |
probably benign |
Het |
| Ighv1-19 |
A |
G |
12: 114,672,571 (GRCm39) |
|
probably benign |
Het |
| Iqcc |
T |
A |
4: 129,510,501 (GRCm39) |
Q338L |
not run |
Het |
| Kdm5b |
T |
C |
1: 134,488,177 (GRCm39) |
V34A |
probably damaging |
Het |
| Lgals4 |
T |
C |
7: 28,540,571 (GRCm39) |
F225L |
probably benign |
Het |
| Lmtk3 |
C |
T |
7: 45,444,581 (GRCm39) |
T1088I |
unknown |
Het |
| Magel2 |
A |
T |
7: 62,030,524 (GRCm39) |
S1143C |
unknown |
Het |
| Mapk4 |
A |
T |
18: 74,070,338 (GRCm39) |
L185Q |
possibly damaging |
Het |
| Ncam1 |
A |
G |
9: 49,418,211 (GRCm39) |
S1030P |
|
Het |
| Nynrin |
A |
T |
14: 56,101,371 (GRCm39) |
T347S |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,940,219 (GRCm39) |
T532A |
probably damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,389 (GRCm39) |
E207G |
probably damaging |
Het |
| Pde6h |
T |
C |
6: 136,940,211 (GRCm39) |
W66R |
probably damaging |
Het |
| Pmaip1 |
T |
C |
18: 66,591,885 (GRCm39) |
|
probably null |
Het |
| Prkd3 |
A |
G |
17: 79,261,995 (GRCm39) |
F774S |
probably damaging |
Het |
| Prox1 |
T |
A |
1: 189,894,042 (GRCm39) |
R134S |
possibly damaging |
Het |
| Ptpn22 |
T |
A |
3: 103,793,335 (GRCm39) |
H495Q |
probably damaging |
Het |
| Ptprj |
G |
T |
2: 90,271,126 (GRCm39) |
Q1201K |
probably benign |
Het |
| Rp1l1 |
A |
G |
14: 64,269,447 (GRCm39) |
S1678G |
probably benign |
Het |
| Sez6l |
G |
T |
5: 112,724,678 (GRCm39) |
|
probably null |
Het |
| Sgcg |
T |
A |
14: 61,477,816 (GRCm39) |
Y91F |
probably damaging |
Het |
| Skint2 |
C |
T |
4: 112,481,415 (GRCm39) |
L93F |
probably damaging |
Het |
| Slc22a22 |
A |
T |
15: 57,126,771 (GRCm39) |
D99E |
probably benign |
Het |
| Slco3a1 |
A |
G |
7: 73,934,090 (GRCm39) |
I694T |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,736,911 (GRCm39) |
I305N |
possibly damaging |
Het |
| Stac3 |
T |
A |
10: 127,340,769 (GRCm39) |
V178D |
probably benign |
Het |
| Suclg2 |
G |
A |
6: 95,543,444 (GRCm39) |
A329V |
probably damaging |
Het |
| Suclg2 |
T |
A |
6: 95,543,441 (GRCm39) |
N330I |
probably damaging |
Het |
| Tas2r118 |
C |
T |
6: 23,969,749 (GRCm39) |
C104Y |
probably damaging |
Het |
| Tom1l2 |
T |
G |
11: 60,135,991 (GRCm39) |
E327D |
probably benign |
Het |
| Trit1 |
T |
C |
4: 122,910,572 (GRCm39) |
M57T |
possibly damaging |
Het |
| Vav1 |
G |
A |
17: 57,603,720 (GRCm39) |
S134N |
probably benign |
Het |
| Vmn2r82 |
T |
C |
10: 79,214,722 (GRCm39) |
L235P |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,379 (GRCm39) |
V441E |
possibly 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 |
|
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'- TATGCTCAGCCATACCTCCAGG -3'
(R):5'- GTGAGAGTTCTTCTTCCCAGG -3'
Sequencing Primer
(F):5'- GAAGTCATCCTCTTCGCTGGG -3'
(R):5'- TCTTCCCAGGATACAATGGGCTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation