Incidental Mutation 'R4373:Mtcl1'
ID |
326087 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtcl1
|
Ensembl Gene |
ENSMUSG00000052105 |
Gene Name |
microtubule crosslinking factor 1 |
Synonyms |
1110012J17Rik, Soga2, t8219b25 |
MMRRC Submission |
041675-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R4373 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
66643977-66756745 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 66687074 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 611
(T611S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094894
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086693]
[ENSMUST00000097291]
[ENSMUST00000145347]
[ENSMUST00000177034]
|
AlphaFold |
Q3UHU5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086693
AA Change: T611S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000083899 Gene: ENSMUSG00000052105 AA Change: T611S
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
42 |
N/A |
INTRINSIC |
low complexity region
|
54 |
98 |
N/A |
INTRINSIC |
low complexity region
|
99 |
120 |
N/A |
INTRINSIC |
low complexity region
|
127 |
132 |
N/A |
INTRINSIC |
low complexity region
|
166 |
183 |
N/A |
INTRINSIC |
low complexity region
|
240 |
259 |
N/A |
INTRINSIC |
low complexity region
|
273 |
290 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
332 |
466 |
3e-7 |
SMART |
Blast:BRLZ
|
339 |
362 |
1e-5 |
BLAST |
Pfam:DUF3166
|
493 |
587 |
1.8e-34 |
PFAM |
Pfam:DUF3166
|
622 |
714 |
3.8e-39 |
PFAM |
low complexity region
|
843 |
859 |
N/A |
INTRINSIC |
low complexity region
|
896 |
910 |
N/A |
INTRINSIC |
low complexity region
|
962 |
973 |
N/A |
INTRINSIC |
low complexity region
|
1049 |
1062 |
N/A |
INTRINSIC |
coiled coil region
|
1120 |
1159 |
N/A |
INTRINSIC |
Pfam:DUF4482
|
1220 |
1344 |
3e-40 |
PFAM |
low complexity region
|
1464 |
1476 |
N/A |
INTRINSIC |
low complexity region
|
1672 |
1681 |
N/A |
INTRINSIC |
low complexity region
|
1912 |
1924 |
N/A |
INTRINSIC |
low complexity region
|
1931 |
1943 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097291
AA Change: T611S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000094894 Gene: ENSMUSG00000052105 AA Change: T611S
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
42 |
N/A |
INTRINSIC |
low complexity region
|
54 |
98 |
N/A |
INTRINSIC |
low complexity region
|
99 |
120 |
N/A |
INTRINSIC |
low complexity region
|
127 |
132 |
N/A |
INTRINSIC |
low complexity region
|
166 |
183 |
N/A |
INTRINSIC |
low complexity region
|
240 |
259 |
N/A |
INTRINSIC |
low complexity region
|
273 |
290 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
332 |
466 |
3e-7 |
SMART |
Blast:BRLZ
|
339 |
362 |
1e-5 |
BLAST |
Pfam:DUF3166
|
492 |
588 |
1.8e-43 |
PFAM |
Pfam:DUF3166
|
621 |
716 |
5e-19 |
PFAM |
low complexity region
|
843 |
859 |
N/A |
INTRINSIC |
low complexity region
|
896 |
910 |
N/A |
INTRINSIC |
low complexity region
|
962 |
973 |
N/A |
INTRINSIC |
low complexity region
|
1049 |
1062 |
N/A |
INTRINSIC |
coiled coil region
|
1120 |
1159 |
N/A |
INTRINSIC |
Pfam:DUF4482
|
1220 |
1392 |
3.9e-49 |
PFAM |
low complexity region
|
1464 |
1476 |
N/A |
INTRINSIC |
low complexity region
|
1672 |
1681 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134139
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142154
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144492
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145347
AA Change: T162S
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000121387 Gene: ENSMUSG00000052105 AA Change: T162S
Domain | Start | End | E-Value | Type |
Pfam:DUF3166
|
43 |
139 |
9.1e-44 |
PFAM |
Pfam:DUF3166
|
172 |
267 |
2.5e-19 |
PFAM |
low complexity region
|
394 |
410 |
N/A |
INTRINSIC |
low complexity region
|
447 |
461 |
N/A |
INTRINSIC |
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
low complexity region
|
600 |
613 |
N/A |
INTRINSIC |
coiled coil region
|
671 |
710 |
N/A |
INTRINSIC |
Pfam:DUF4482
|
771 |
910 |
4.6e-49 |
PFAM |
low complexity region
|
1015 |
1027 |
N/A |
INTRINSIC |
low complexity region
|
1223 |
1232 |
N/A |
INTRINSIC |
low complexity region
|
1463 |
1475 |
N/A |
INTRINSIC |
low complexity region
|
1482 |
1494 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177034
AA Change: T259S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000135690 Gene: ENSMUSG00000052105 AA Change: T259S
Domain | Start | End | E-Value | Type |
Pfam:DUF3166
|
140 |
236 |
1.5e-43 |
PFAM |
Pfam:DUF3166
|
269 |
364 |
4e-19 |
PFAM |
low complexity region
|
491 |
507 |
N/A |
INTRINSIC |
low complexity region
|
544 |
558 |
N/A |
INTRINSIC |
low complexity region
|
610 |
621 |
N/A |
INTRINSIC |
coiled coil region
|
642 |
674 |
N/A |
INTRINSIC |
low complexity region
|
738 |
751 |
N/A |
INTRINSIC |
coiled coil region
|
809 |
848 |
N/A |
INTRINSIC |
Pfam:DUF4482
|
909 |
1042 |
4e-49 |
PFAM |
low complexity region
|
1161 |
1173 |
N/A |
INTRINSIC |
low complexity region
|
1369 |
1378 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
98% (54/55) |
MGI Phenotype |
PHENOTYPE: Global or Purkinje cell-specific homozygous knockout affects Purkinje cell axon and dendrite morphology, resulting in abnormal motor function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck5 |
A |
G |
15: 76,478,535 (GRCm39) |
|
probably benign |
Het |
Akr1b1 |
A |
C |
6: 34,281,202 (GRCm39) |
|
probably benign |
Het |
Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
Asns |
A |
T |
6: 7,677,978 (GRCm39) |
S367T |
probably damaging |
Het |
BC034090 |
T |
C |
1: 155,101,904 (GRCm39) |
N120S |
probably benign |
Het |
Bub1 |
A |
T |
2: 127,647,156 (GRCm39) |
|
probably benign |
Het |
Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
Ctsz |
T |
C |
2: 174,270,378 (GRCm39) |
E268G |
possibly damaging |
Het |
Dach1 |
G |
A |
14: 98,065,186 (GRCm39) |
T685I |
possibly damaging |
Het |
Dclre1a |
A |
G |
19: 56,533,874 (GRCm39) |
L240S |
probably benign |
Het |
Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
Esam |
C |
T |
9: 37,445,492 (GRCm39) |
T71I |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Gde1 |
A |
G |
7: 118,297,781 (GRCm39) |
L35P |
possibly damaging |
Het |
Gm10382 |
A |
G |
5: 125,466,647 (GRCm39) |
|
probably benign |
Het |
H2-M10.6 |
T |
C |
17: 37,123,958 (GRCm39) |
Y141H |
probably damaging |
Het |
Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
Lamc3 |
A |
G |
2: 31,788,244 (GRCm39) |
K135E |
probably damaging |
Het |
Lrtm2 |
A |
G |
6: 119,297,489 (GRCm39) |
F184S |
probably damaging |
Het |
Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
Myc |
A |
T |
15: 61,861,513 (GRCm39) |
H373L |
probably damaging |
Het |
Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
Naaa |
T |
C |
5: 92,426,002 (GRCm39) |
|
probably benign |
Het |
Nfib |
A |
G |
4: 82,241,895 (GRCm39) |
V432A |
probably damaging |
Het |
Nmt1 |
A |
G |
11: 102,934,026 (GRCm39) |
K55R |
probably damaging |
Het |
Opa3 |
C |
T |
7: 18,978,699 (GRCm39) |
R55W |
probably damaging |
Het |
Or4c122 |
T |
C |
2: 89,079,589 (GRCm39) |
R150G |
possibly damaging |
Het |
Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
Pld5 |
T |
A |
1: 175,967,583 (GRCm39) |
I91F |
probably damaging |
Het |
Plec |
A |
C |
15: 76,067,317 (GRCm39) |
S1350A |
probably damaging |
Het |
Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
Ppp1r16b |
T |
C |
2: 158,603,685 (GRCm39) |
Y537H |
probably damaging |
Het |
Prdm8 |
T |
C |
5: 98,334,367 (GRCm39) |
S645P |
probably damaging |
Het |
Rgs1 |
T |
C |
1: 144,123,644 (GRCm39) |
T94A |
probably benign |
Het |
Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
Sanbr |
A |
T |
11: 23,565,265 (GRCm39) |
|
probably null |
Het |
Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
TTTTATATT |
TTT |
5: 113,405,989 (GRCm39) |
|
probably benign |
Het |
Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
Stat4 |
T |
C |
1: 52,111,100 (GRCm39) |
|
probably null |
Het |
Tex9 |
A |
T |
9: 72,387,877 (GRCm39) |
|
probably null |
Het |
Tsku |
T |
C |
7: 98,002,038 (GRCm39) |
T98A |
probably benign |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Vmn2r116 |
A |
C |
17: 23,620,395 (GRCm39) |
I710L |
probably benign |
Het |
Vmn2r16 |
A |
T |
5: 109,511,667 (GRCm39) |
I625F |
probably damaging |
Het |
Xpo4 |
G |
A |
14: 57,828,479 (GRCm39) |
Q794* |
probably null |
Het |
Zfp112 |
T |
A |
7: 23,824,473 (GRCm39) |
I147N |
probably damaging |
Het |
Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
probably damaging |
Het |
|
Other mutations in Mtcl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00092:Mtcl1
|
APN |
17 |
66,651,314 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01774:Mtcl1
|
APN |
17 |
66,692,880 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01918:Mtcl1
|
APN |
17 |
66,675,263 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02000:Mtcl1
|
APN |
17 |
66,661,185 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02074:Mtcl1
|
APN |
17 |
66,673,463 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02338:Mtcl1
|
APN |
17 |
66,686,965 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02597:Mtcl1
|
APN |
17 |
66,645,016 (GRCm39) |
missense |
probably benign |
|
IGL03034:Mtcl1
|
APN |
17 |
66,651,193 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03120:Mtcl1
|
APN |
17 |
66,686,378 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03184:Mtcl1
|
APN |
17 |
66,661,209 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03240:Mtcl1
|
APN |
17 |
66,645,014 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03294:Mtcl1
|
APN |
17 |
66,645,014 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03332:Mtcl1
|
APN |
17 |
66,645,014 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4378001:Mtcl1
|
UTSW |
17 |
66,745,274 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4520001:Mtcl1
|
UTSW |
17 |
66,692,907 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0110:Mtcl1
|
UTSW |
17 |
66,665,109 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0113:Mtcl1
|
UTSW |
17 |
66,661,237 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0321:Mtcl1
|
UTSW |
17 |
66,686,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R0366:Mtcl1
|
UTSW |
17 |
66,645,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R0629:Mtcl1
|
UTSW |
17 |
66,645,137 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1466:Mtcl1
|
UTSW |
17 |
66,687,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:Mtcl1
|
UTSW |
17 |
66,687,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R1467:Mtcl1
|
UTSW |
17 |
66,755,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R1467:Mtcl1
|
UTSW |
17 |
66,755,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R1471:Mtcl1
|
UTSW |
17 |
66,686,143 (GRCm39) |
missense |
probably damaging |
0.96 |
R1650:Mtcl1
|
UTSW |
17 |
66,692,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R1754:Mtcl1
|
UTSW |
17 |
66,687,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R1855:Mtcl1
|
UTSW |
17 |
66,686,509 (GRCm39) |
missense |
probably benign |
|
R1882:Mtcl1
|
UTSW |
17 |
66,686,315 (GRCm39) |
missense |
probably benign |
0.01 |
R1935:Mtcl1
|
UTSW |
17 |
66,686,409 (GRCm39) |
missense |
probably benign |
0.10 |
R2063:Mtcl1
|
UTSW |
17 |
66,653,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R2132:Mtcl1
|
UTSW |
17 |
66,650,618 (GRCm39) |
missense |
probably benign |
0.04 |
R2197:Mtcl1
|
UTSW |
17 |
66,673,427 (GRCm39) |
missense |
probably benign |
|
R3196:Mtcl1
|
UTSW |
17 |
66,650,829 (GRCm39) |
missense |
probably benign |
0.07 |
R3877:Mtcl1
|
UTSW |
17 |
66,649,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R4116:Mtcl1
|
UTSW |
17 |
66,673,476 (GRCm39) |
missense |
probably benign |
|
R4204:Mtcl1
|
UTSW |
17 |
66,745,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R4396:Mtcl1
|
UTSW |
17 |
66,651,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R4591:Mtcl1
|
UTSW |
17 |
66,655,506 (GRCm39) |
missense |
probably benign |
0.07 |
R4610:Mtcl1
|
UTSW |
17 |
66,684,882 (GRCm39) |
missense |
probably benign |
0.04 |
R4681:Mtcl1
|
UTSW |
17 |
66,756,139 (GRCm39) |
missense |
unknown |
|
R4922:Mtcl1
|
UTSW |
17 |
66,655,474 (GRCm39) |
missense |
probably benign |
0.29 |
R4992:Mtcl1
|
UTSW |
17 |
66,649,834 (GRCm39) |
missense |
probably damaging |
0.99 |
R5169:Mtcl1
|
UTSW |
17 |
66,650,818 (GRCm39) |
missense |
probably benign |
0.00 |
R5542:Mtcl1
|
UTSW |
17 |
66,691,354 (GRCm39) |
intron |
probably benign |
|
R5804:Mtcl1
|
UTSW |
17 |
66,650,132 (GRCm39) |
missense |
probably benign |
0.03 |
R5998:Mtcl1
|
UTSW |
17 |
66,675,275 (GRCm39) |
missense |
probably damaging |
0.99 |
R6163:Mtcl1
|
UTSW |
17 |
66,686,326 (GRCm39) |
missense |
probably benign |
0.10 |
R6191:Mtcl1
|
UTSW |
17 |
66,650,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R6254:Mtcl1
|
UTSW |
17 |
66,665,129 (GRCm39) |
missense |
probably benign |
0.02 |
R6260:Mtcl1
|
UTSW |
17 |
66,650,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R6524:Mtcl1
|
UTSW |
17 |
66,655,280 (GRCm39) |
missense |
probably benign |
0.15 |
R6884:Mtcl1
|
UTSW |
17 |
66,745,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R7199:Mtcl1
|
UTSW |
17 |
66,647,534 (GRCm39) |
missense |
probably benign |
0.13 |
R7431:Mtcl1
|
UTSW |
17 |
66,649,901 (GRCm39) |
nonsense |
probably null |
|
R7479:Mtcl1
|
UTSW |
17 |
66,686,485 (GRCm39) |
missense |
probably benign |
|
R7564:Mtcl1
|
UTSW |
17 |
66,678,322 (GRCm39) |
missense |
probably benign |
|
R7608:Mtcl1
|
UTSW |
17 |
66,650,300 (GRCm39) |
missense |
probably damaging |
0.96 |
R7691:Mtcl1
|
UTSW |
17 |
66,687,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R7847:Mtcl1
|
UTSW |
17 |
66,651,328 (GRCm39) |
missense |
probably damaging |
0.96 |
R7908:Mtcl1
|
UTSW |
17 |
66,678,325 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8262:Mtcl1
|
UTSW |
17 |
66,650,653 (GRCm39) |
missense |
probably damaging |
0.99 |
R8324:Mtcl1
|
UTSW |
17 |
66,743,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R8477:Mtcl1
|
UTSW |
17 |
66,684,942 (GRCm39) |
missense |
probably benign |
0.10 |
R8927:Mtcl1
|
UTSW |
17 |
66,755,628 (GRCm39) |
missense |
probably benign |
0.00 |
R8928:Mtcl1
|
UTSW |
17 |
66,755,628 (GRCm39) |
missense |
probably benign |
0.00 |
R9016:Mtcl1
|
UTSW |
17 |
66,651,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R9048:Mtcl1
|
UTSW |
17 |
66,678,331 (GRCm39) |
missense |
probably benign |
0.01 |
R9059:Mtcl1
|
UTSW |
17 |
66,650,606 (GRCm39) |
missense |
probably benign |
0.04 |
R9221:Mtcl1
|
UTSW |
17 |
66,650,879 (GRCm39) |
missense |
probably benign |
0.00 |
R9327:Mtcl1
|
UTSW |
17 |
66,645,130 (GRCm39) |
missense |
probably damaging |
0.96 |
R9398:Mtcl1
|
UTSW |
17 |
66,755,462 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9762:Mtcl1
|
UTSW |
17 |
66,673,347 (GRCm39) |
missense |
probably benign |
0.00 |
X0065:Mtcl1
|
UTSW |
17 |
66,686,602 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Mtcl1
|
UTSW |
17 |
66,650,723 (GRCm39) |
missense |
probably benign |
0.20 |
Z1176:Mtcl1
|
UTSW |
17 |
66,686,455 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Mtcl1
|
UTSW |
17 |
66,651,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTGAGGCTCAAACTTGAAC -3'
(R):5'- CCCTCTATGGTGATGTGGACAG -3'
Sequencing Primer
(F):5'- GAGGCTCAAACTTGAACTTGCTCAG -3'
(R):5'- CTATGGTGATGTGGACAGTCCCC -3'
|
Posted On |
2015-07-06 |