Incidental Mutation 'R9727:Mtcl2'
ID |
731083 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtcl2
|
Ensembl Gene |
ENSMUSG00000055485 |
Gene Name |
microtubule crosslinking factor 2 |
Synonyms |
9830001H06Rik, D430036N24Rik, Soga1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.388)
|
Stock # |
R9727 (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 A
at 156862168 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 1587
(Q1587L)
|
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: Q1587L
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000066556 Gene: ENSMUSG00000055485 AA Change: Q1587L
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akirin2 |
A |
G |
4: 34,565,248 (GRCm39) |
Y165C |
probably damaging |
Het |
Aox4 |
A |
G |
1: 58,286,473 (GRCm39) |
I702V |
probably benign |
Het |
Arhgef33 |
A |
G |
17: 80,678,720 (GRCm39) |
Y472C |
probably damaging |
Het |
Atp13a4 |
T |
G |
16: 29,228,589 (GRCm39) |
S964R |
|
Het |
Atp1a2 |
T |
A |
1: 172,118,936 (GRCm39) |
I69F |
probably benign |
Het |
Bub1 |
T |
C |
2: 127,652,609 (GRCm39) |
D586G |
possibly damaging |
Het |
Ccdc177 |
C |
A |
12: 80,806,044 (GRCm39) |
A77S |
probably benign |
Het |
Ccdc187 |
A |
G |
2: 26,171,204 (GRCm39) |
W425R |
probably damaging |
Het |
Ccn2 |
A |
G |
10: 24,471,820 (GRCm39) |
E37G |
probably benign |
Het |
Ccsap |
T |
C |
8: 124,572,169 (GRCm39) |
D111G |
possibly damaging |
Het |
Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
Ceacam3 |
C |
A |
7: 16,892,262 (GRCm39) |
T335K |
|
Het |
Col22a1 |
A |
T |
15: 71,849,123 (GRCm39) |
W322R |
probably damaging |
Het |
Col5a2 |
A |
G |
1: 45,415,818 (GRCm39) |
V1443A |
possibly damaging |
Het |
Dnah12 |
C |
T |
14: 26,523,510 (GRCm39) |
Q2000* |
probably null |
Het |
Dock7 |
G |
T |
4: 98,875,568 (GRCm39) |
T1154K |
unknown |
Het |
Dot1l |
T |
C |
10: 80,628,382 (GRCm39) |
L1140P |
unknown |
Het |
Dst |
G |
A |
1: 34,314,877 (GRCm39) |
V4489M |
probably damaging |
Het |
Duox2 |
G |
A |
2: 122,116,998 (GRCm39) |
R960* |
probably null |
Het |
Elavl2 |
T |
C |
4: 91,169,495 (GRCm39) |
I97V |
probably benign |
Het |
Emp1 |
G |
T |
6: 135,358,016 (GRCm39) |
A121S |
probably benign |
Het |
Exph5 |
A |
T |
9: 53,287,702 (GRCm39) |
R1594S |
probably damaging |
Het |
Fam186b |
C |
T |
15: 99,171,669 (GRCm39) |
M859I |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,159,137 (GRCm39) |
V3345A |
probably damaging |
Het |
Gtf2f1 |
A |
T |
17: 57,318,005 (GRCm39) |
N10K |
possibly damaging |
Het |
Hid1 |
T |
G |
11: 115,245,939 (GRCm39) |
K384N |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,674,566 (GRCm39) |
R579G |
probably benign |
Het |
Igf1r |
T |
A |
7: 67,857,554 (GRCm39) |
V1078D |
probably damaging |
Het |
Il20rb |
A |
T |
9: 100,357,001 (GRCm39) |
M43K |
probably damaging |
Het |
Kdm3a |
A |
T |
6: 71,569,094 (GRCm39) |
Y1134* |
probably null |
Het |
Kif12 |
T |
A |
4: 63,085,978 (GRCm39) |
N429I |
probably damaging |
Het |
Kif18a |
C |
T |
2: 109,118,464 (GRCm39) |
T93I |
probably damaging |
Het |
Krtap9-5 |
T |
A |
11: 99,839,340 (GRCm39) |
C14S |
possibly damaging |
Het |
Lgals8 |
A |
T |
13: 12,462,038 (GRCm39) |
M264K |
possibly damaging |
Het |
Mlxipl |
T |
A |
5: 135,150,388 (GRCm39) |
C143* |
probably null |
Het |
Mvp |
A |
T |
7: 126,595,040 (GRCm39) |
H268Q |
probably damaging |
Het |
Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
Nos2 |
A |
G |
11: 78,843,825 (GRCm39) |
Y924C |
possibly damaging |
Het |
Or4f52 |
A |
T |
2: 111,061,961 (GRCm39) |
M59K |
probably damaging |
Het |
Phf20l1 |
A |
G |
15: 66,487,231 (GRCm39) |
N449S |
probably benign |
Het |
Pot1b |
A |
C |
17: 55,999,795 (GRCm39) |
I210S |
possibly damaging |
Het |
Ptrh1 |
T |
A |
2: 32,665,854 (GRCm39) |
W5R |
probably benign |
Het |
Rasgrp3 |
A |
G |
17: 75,810,239 (GRCm39) |
H313R |
probably damaging |
Het |
Ric1 |
A |
T |
19: 29,575,258 (GRCm39) |
I984F |
probably damaging |
Het |
Rin2 |
G |
A |
2: 145,702,506 (GRCm39) |
A401T |
possibly damaging |
Het |
Rmdn3 |
C |
A |
2: 118,968,827 (GRCm39) |
|
probably null |
Het |
Senp7 |
A |
T |
16: 55,990,169 (GRCm39) |
H639L |
probably benign |
Het |
Sipa1l1 |
T |
C |
12: 82,471,829 (GRCm39) |
S1270P |
probably damaging |
Het |
Slc22a28 |
T |
A |
19: 8,108,818 (GRCm39) |
E108V |
probably benign |
Het |
Slc7a5 |
A |
G |
8: 122,613,085 (GRCm39) |
I331T |
probably benign |
Het |
Smarca4 |
T |
C |
9: 21,611,160 (GRCm39) |
Y1467H |
probably damaging |
Het |
Srebf2 |
T |
A |
15: 82,076,506 (GRCm39) |
F759I |
possibly damaging |
Het |
Thumpd2 |
A |
T |
17: 81,345,585 (GRCm39) |
D304E |
probably damaging |
Het |
Tmem59 |
A |
G |
4: 107,050,547 (GRCm39) |
E226G |
probably benign |
Het |
Trpv1 |
A |
C |
11: 73,130,347 (GRCm39) |
D151A |
probably damaging |
Het |
Txnrd3 |
A |
G |
6: 89,651,751 (GRCm39) |
D607G |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,140,735 (GRCm39) |
V1218E |
probably damaging |
Het |
Ugt2b5 |
T |
A |
5: 87,288,165 (GRCm39) |
M1L |
probably damaging |
Het |
Vwa5b2 |
C |
T |
16: 20,423,477 (GRCm39) |
A1130V |
probably damaging |
Het |
Wdr4 |
T |
C |
17: 31,718,045 (GRCm39) |
E343G |
probably benign |
Het |
Zbtb34 |
C |
A |
2: 33,301,533 (GRCm39) |
R336L |
probably benign |
Het |
Zfp607b |
T |
C |
7: 27,403,125 (GRCm39) |
V527A |
probably benign |
Het |
Zfp949 |
T |
A |
9: 88,451,913 (GRCm39) |
C494* |
probably null |
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 |
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 |
X0019:Mtcl2
|
UTSW |
2 |
156,862,184 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- GAACTGCTGTTGCTTTCCTTCTAAA -3'
(R):5'- CCCAAGTATGGCATTGTTCAGG -3'
Sequencing Primer
(F):5'- GATTTCTGAGTTCAAGGCCAGCC -3'
(R):5'- CCAAGTATGGCATTGTTCAGGAGTTC -3'
|
Posted On |
2022-10-06 |