Incidental Mutation 'R9398:Mtcl1'
| ID |
710970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtcl1
|
| Ensembl Gene |
ENSMUSG00000052105 |
| Gene Name |
microtubule crosslinking factor 1 |
| Synonyms |
1110012J17Rik, Soga2, t8219b25 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R9398 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
66643977-66756745 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66755462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 293
(D293E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086693]
[ENSMUST00000097291]
|
| AlphaFold |
Q3UHU5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086693
AA Change: D293E
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: D293E
| 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 |
possibly damaging
Transcript: ENSMUST00000097291
AA Change: D293E
PolyPhen 2
Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: D293E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
A |
T |
15: 101,034,924 (GRCm39) |
K228* |
probably null |
Het |
| Adrb2 |
T |
C |
18: 62,312,276 (GRCm39) |
D183G |
probably benign |
Het |
| Ap1m2 |
A |
G |
9: 21,216,935 (GRCm39) |
Y134H |
probably damaging |
Het |
| Arid5a |
A |
G |
1: 36,358,073 (GRCm39) |
T217A |
probably benign |
Het |
| Cdnf |
C |
T |
2: 3,522,075 (GRCm39) |
T89I |
possibly damaging |
Het |
| Cntnap3 |
G |
A |
13: 65,051,648 (GRCm39) |
R3W |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,651,825 (GRCm39) |
I1062T |
probably benign |
Het |
| Ctss |
T |
C |
3: 95,454,258 (GRCm39) |
F270S |
possibly damaging |
Het |
| Ddhd1 |
C |
T |
14: 45,895,117 (GRCm39) |
G118R |
possibly damaging |
Het |
| Ddx11 |
A |
G |
17: 66,436,912 (GRCm39) |
K69E |
probably benign |
Het |
| Dgkb |
G |
A |
12: 38,189,657 (GRCm39) |
G328D |
probably damaging |
Het |
| Dock1 |
C |
T |
7: 134,774,228 (GRCm39) |
T1852M |
probably damaging |
Het |
| Gm19410 |
T |
C |
8: 36,272,356 (GRCm39) |
Y1346H |
probably benign |
Het |
| Gprin1 |
G |
T |
13: 54,887,383 (GRCm39) |
T297N |
probably damaging |
Het |
| Gramd1c |
A |
G |
16: 43,833,381 (GRCm39) |
F187S |
probably damaging |
Het |
| Gse1 |
A |
G |
8: 121,303,074 (GRCm39) |
N1072D |
unknown |
Het |
| Gtf3c6 |
G |
A |
10: 40,133,520 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
T |
A |
2: 104,263,562 (GRCm39) |
T897S |
probably benign |
Het |
| Igsf21 |
T |
A |
4: 139,973,762 (GRCm39) |
|
probably benign |
Het |
| Itgb1 |
A |
G |
8: 129,452,605 (GRCm39) |
I757V |
probably damaging |
Het |
| Lamb2 |
C |
T |
9: 108,364,366 (GRCm39) |
R1102W |
possibly damaging |
Het |
| Lzts2 |
T |
G |
19: 45,013,208 (GRCm39) |
C374W |
unknown |
Het |
| Mapk10 |
A |
T |
5: 103,061,152 (GRCm39) |
S462T |
probably damaging |
Het |
| Nf1 |
T |
G |
11: 79,438,018 (GRCm39) |
H109Q |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,783,435 (GRCm39) |
L926P |
probably damaging |
Het |
| Notch2 |
G |
A |
3: 98,009,668 (GRCm39) |
D532N |
probably damaging |
Het |
| Olfm4 |
A |
T |
14: 80,249,249 (GRCm39) |
Y122F |
probably benign |
Het |
| Or52e19b |
T |
A |
7: 103,032,487 (GRCm39) |
T241S |
probably damaging |
Het |
| Or52r1 |
A |
G |
7: 102,537,000 (GRCm39) |
M120T |
probably damaging |
Het |
| Or56a4 |
A |
T |
7: 104,806,006 (GRCm39) |
Y294* |
probably null |
Het |
| Or5g24-ps1 |
T |
C |
2: 85,464,367 (GRCm39) |
V198A |
probably benign |
Het |
| Or5p76 |
T |
C |
7: 108,123,035 (GRCm39) |
T41A |
probably damaging |
Het |
| Or5t18 |
A |
G |
2: 86,637,160 (GRCm39) |
L61P |
possibly damaging |
Het |
| P2rx2 |
A |
T |
5: 110,488,138 (GRCm39) |
M472K |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,354,941 (GRCm39) |
K487E |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,045,122 (GRCm39) |
V1108A |
probably benign |
Het |
| Polq |
A |
G |
16: 36,881,394 (GRCm39) |
N1186S |
probably benign |
Het |
| Por |
T |
A |
5: 135,754,597 (GRCm39) |
W6R |
unknown |
Het |
| Prex2 |
G |
A |
1: 11,207,028 (GRCm39) |
V529I |
probably benign |
Het |
| Rgs6 |
T |
G |
12: 82,698,615 (GRCm39) |
S5A |
probably benign |
Het |
| Rp9 |
G |
T |
9: 22,360,082 (GRCm39) |
S171* |
probably null |
Het |
| Sec11c |
T |
A |
18: 65,942,568 (GRCm39) |
I47N |
possibly damaging |
Het |
| Sh2b1 |
GCCACGGGGACCAGCTC |
GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC |
7: 126,066,756 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GACCAGCTCAGCCACGGG |
GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG |
7: 126,066,746 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,940,511 (GRCm39) |
S137P |
possibly damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,213,651 (GRCm39) |
M692T |
possibly damaging |
Het |
| Sult1d1 |
T |
A |
5: 87,713,954 (GRCm39) |
Q30L |
probably benign |
Het |
| Tcea2 |
A |
G |
2: 181,322,243 (GRCm39) |
D15G |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,066,429 (GRCm39) |
S2344G |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,784,404 (GRCm39) |
Y1824* |
probably null |
Het |
| Ubqln5 |
T |
C |
7: 103,777,985 (GRCm39) |
T280A |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,869,934 (GRCm39) |
R342G |
probably benign |
Het |
| Vmn1r185 |
T |
A |
7: 26,311,056 (GRCm39) |
I150F |
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,261 (GRCm39) |
M205T |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,896,956 (GRCm39) |
Y321* |
probably null |
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 |
|
R4373:Mtcl1
|
UTSW |
17 |
66,687,074 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
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'- AGGAGACGAGCTCACATGAC -3'
(R):5'- CGAACCCTTGTCTGATGAGC -3'
Sequencing Primer
(F):5'- GCTTCCGAGACACACCTG -3'
(R):5'- TTGTCTGATGAGCAGCGCCTAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation