Incidental Mutation 'R1701:Mtcl2'
| ID |
189702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtcl2
|
| Ensembl Gene |
ENSMUSG00000055485 |
| Gene Name |
microtubule crosslinking factor 2 |
| Synonyms |
9830001H06Rik, D430036N24Rik, Soga1 |
| MMRRC Submission |
039734-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.388)
|
| Stock # |
R1701 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
156857719-156921174 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156872539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 936
(N936S)
|
| 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: N936S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000066556
Gene: ENSMUSG00000055485
AA Change: N936S
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,190,142 (GRCm39) |
L53P |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,026,213 (GRCm39) |
F19I |
probably benign |
Het |
| Aldh3a2 |
C |
T |
11: 61,147,598 (GRCm39) |
G303S |
probably damaging |
Het |
| Anks1b |
T |
C |
10: 89,885,816 (GRCm39) |
Y171H |
probably damaging |
Het |
| Anxa7 |
A |
T |
14: 20,510,229 (GRCm39) |
I385N |
probably damaging |
Het |
| Astn1 |
A |
T |
1: 158,331,877 (GRCm39) |
T324S |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,427,427 (GRCm39) |
V235A |
possibly damaging |
Het |
| Crhr2 |
T |
C |
6: 55,076,255 (GRCm39) |
K258R |
probably damaging |
Het |
| Ctnnd1 |
T |
C |
2: 84,439,335 (GRCm39) |
E786G |
probably damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,922,127 (GRCm39) |
D918N |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,802,750 (GRCm39) |
S200P |
probably damaging |
Het |
| Dot1l |
T |
C |
10: 80,626,576 (GRCm39) |
S1266P |
possibly damaging |
Het |
| Efemp1 |
A |
G |
11: 28,871,750 (GRCm39) |
T422A |
possibly damaging |
Het |
| Fam135b |
T |
C |
15: 71,331,578 (GRCm39) |
H1137R |
probably damaging |
Het |
| Flot2 |
C |
T |
11: 77,940,373 (GRCm39) |
S40L |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,748,643 (GRCm39) |
S706N |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,250,114 (GRCm39) |
L357P |
probably damaging |
Het |
| Gpatch2l |
A |
G |
12: 86,335,726 (GRCm39) |
S476G |
probably benign |
Het |
| Hbb-bh2 |
T |
C |
7: 103,489,450 (GRCm39) |
T34A |
probably benign |
Het |
| Ints8 |
A |
G |
4: 11,231,656 (GRCm39) |
L443P |
probably damaging |
Het |
| Intu |
T |
A |
3: 40,618,694 (GRCm39) |
D233E |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,466,394 (GRCm39) |
K75E |
probably damaging |
Het |
| Kctd1 |
T |
A |
18: 15,102,617 (GRCm39) |
I259L |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,863,162 (GRCm39) |
C108R |
probably damaging |
Het |
| Lgals3bp |
T |
C |
11: 118,284,781 (GRCm39) |
Y266C |
probably damaging |
Het |
| Lrig2 |
T |
C |
3: 104,401,993 (GRCm39) |
I111V |
probably benign |
Het |
| Myh8 |
G |
T |
11: 67,170,964 (GRCm39) |
C125F |
probably damaging |
Het |
| Or2d3c |
C |
A |
7: 106,526,129 (GRCm39) |
C179F |
probably damaging |
Het |
| Or2h2 |
C |
T |
17: 37,396,623 (GRCm39) |
V145M |
probably benign |
Het |
| Or51a10 |
T |
C |
7: 103,699,402 (GRCm39) |
E53G |
possibly damaging |
Het |
| Or5ac21 |
T |
C |
16: 59,123,651 (GRCm39) |
I46T |
probably benign |
Het |
| Or5p76 |
T |
G |
7: 108,122,731 (GRCm39) |
Q142P |
probably benign |
Het |
| Or5w16 |
T |
A |
2: 87,576,894 (GRCm39) |
M118K |
probably damaging |
Het |
| Or6c202 |
T |
C |
10: 128,995,974 (GRCm39) |
Q293R |
probably damaging |
Het |
| Or8g4 |
A |
T |
9: 39,662,365 (GRCm39) |
I228F |
probably damaging |
Het |
| Pate8 |
A |
G |
9: 36,493,114 (GRCm39) |
|
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,645,400 (GRCm39) |
P836S |
probably damaging |
Het |
| Pla2g7 |
T |
C |
17: 43,911,415 (GRCm39) |
F189S |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,342,054 (GRCm39) |
D487G |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,577,692 (GRCm39) |
|
probably null |
Het |
| Robo4 |
G |
T |
9: 37,314,739 (GRCm39) |
V198L |
probably benign |
Het |
| Selenbp1 |
C |
A |
3: 94,844,701 (GRCm39) |
H119Q |
probably damaging |
Het |
| Slc25a13 |
T |
C |
6: 6,152,525 (GRCm39) |
|
probably null |
Het |
| Slc35f5 |
A |
G |
1: 125,498,330 (GRCm39) |
E176G |
possibly damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Tenm4 |
G |
A |
7: 96,552,096 (GRCm39) |
V2512M |
probably damaging |
Het |
| Tmc8 |
A |
G |
11: 117,682,188 (GRCm39) |
|
probably null |
Het |
| Trim30d |
C |
T |
7: 104,133,389 (GRCm39) |
W21* |
probably null |
Het |
| Ube3c |
G |
A |
5: 29,806,200 (GRCm39) |
V281I |
probably benign |
Het |
| Usp17ld |
T |
C |
7: 102,899,783 (GRCm39) |
K383R |
probably benign |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,529 (GRCm39) |
Y138F |
probably damaging |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,395 (GRCm39) |
V186A |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,828,754 (GRCm39) |
|
probably null |
Het |
| Vmn2r61 |
T |
C |
7: 41,949,935 (GRCm39) |
F785S |
probably damaging |
Het |
| Zfp141 |
T |
A |
7: 42,125,470 (GRCm39) |
Y334F |
probably benign |
Het |
| Zfp609 |
T |
C |
9: 65,638,282 (GRCm39) |
I317V |
probably benign |
Het |
| Zfp879 |
A |
G |
11: 50,724,060 (GRCm39) |
I259T |
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 |
|
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 |
|
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'- TAAGCATCCACAGACCCTGTGTCC -3'
(R):5'- GTTCAAGCACAACTTTCTGCTGCTC -3'
Sequencing Primer
(F):5'- TCCTGTCAGGGCTGAGAAG -3'
(R):5'- CCAGCGAAGAGGATGACTTCC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation