Incidental Mutation 'R7788:Mtcl2'
| ID |
599641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtcl2
|
| Ensembl Gene |
ENSMUSG00000055485 |
| Gene Name |
microtubule crosslinking factor 2 |
| Synonyms |
9830001H06Rik, D430036N24Rik, Soga1 |
| MMRRC Submission |
045844-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
R7788 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156857719-156921174 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 156869504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 1044
(A1044T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069098]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069098
AA Change: A1044T
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000066556
Gene: ENSMUSG00000055485
AA Change: A1044T
| 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: 99.2%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
A |
T |
14: 68,750,094 (GRCm39) |
V442E |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,721,433 (GRCm39) |
V715D |
probably damaging |
Het |
| Aldh1l1 |
A |
C |
6: 90,546,894 (GRCm39) |
D399A |
probably benign |
Het |
| Ankrd23 |
T |
C |
1: 36,570,808 (GRCm39) |
N274S |
probably damaging |
Het |
| Aopep |
A |
T |
13: 63,304,407 (GRCm39) |
H473L |
possibly damaging |
Het |
| Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
| Arpc4 |
A |
T |
6: 113,362,565 (GRCm39) |
M149L |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,191,759 (GRCm39) |
T1407A |
possibly damaging |
Het |
| Calml3 |
A |
T |
13: 3,854,121 (GRCm39) |
I28N |
probably damaging |
Het |
| Cdhr3 |
A |
G |
12: 33,110,319 (GRCm39) |
S322P |
probably damaging |
Het |
| Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
| Cntn5 |
A |
G |
9: 9,704,934 (GRCm39) |
S622P |
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,824,166 (GRCm39) |
|
probably null |
Het |
| Csf2rb2 |
A |
T |
15: 78,177,041 (GRCm39) |
I143N |
probably benign |
Het |
| Cwh43 |
T |
C |
5: 73,572,377 (GRCm39) |
L205P |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 148,970,064 (GRCm39) |
T52A |
probably benign |
Het |
| Dhx40 |
A |
G |
11: 86,666,502 (GRCm39) |
I597T |
possibly damaging |
Het |
| Dnajc21 |
A |
G |
15: 10,460,133 (GRCm39) |
L268P |
probably damaging |
Het |
| Dzip1 |
A |
T |
14: 119,120,805 (GRCm39) |
D717E |
probably benign |
Het |
| Elmo3 |
A |
G |
8: 106,034,876 (GRCm39) |
N389D |
probably damaging |
Het |
| Evi2a |
T |
C |
11: 79,418,768 (GRCm39) |
E14G |
unknown |
Het |
| Fam149a |
T |
A |
8: 45,834,554 (GRCm39) |
R82W |
probably damaging |
Het |
| Farp1 |
A |
T |
14: 121,513,665 (GRCm39) |
E820V |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 91,965,440 (GRCm39) |
S400T |
possibly damaging |
Het |
| Flnc |
G |
A |
6: 29,456,443 (GRCm39) |
V2214I |
possibly damaging |
Het |
| Galnt4 |
C |
A |
10: 98,944,975 (GRCm39) |
N233K |
possibly damaging |
Het |
| Gbp5 |
A |
G |
3: 142,208,841 (GRCm39) |
Y128C |
probably damaging |
Het |
| Gm4871 |
G |
A |
5: 144,969,420 (GRCm39) |
T33I |
probably benign |
Het |
| Gm5592 |
T |
C |
7: 40,936,118 (GRCm39) |
S207P |
probably benign |
Het |
| Gtf2ird1 |
A |
T |
5: 134,445,985 (GRCm39) |
C15* |
probably null |
Het |
| Ido2 |
T |
A |
8: 25,037,242 (GRCm39) |
I155F |
probably damaging |
Het |
| Ifi27l2b |
A |
T |
12: 103,423,268 (GRCm39) |
|
probably null |
Het |
| Il15ra |
C |
T |
2: 11,728,404 (GRCm39) |
T49I |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,337,571 (GRCm39) |
C2460* |
probably null |
Het |
| Kcnj11 |
T |
C |
7: 45,749,179 (GRCm39) |
N48S |
probably damaging |
Het |
| Lmo7 |
A |
C |
14: 102,136,012 (GRCm39) |
N695T |
possibly damaging |
Het |
| Mmp15 |
C |
A |
8: 96,094,776 (GRCm39) |
H217N |
probably damaging |
Het |
| Muc21 |
A |
T |
17: 35,929,798 (GRCm39) |
S1463T |
unknown |
Het |
| Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,186,627 (GRCm39) |
D991V |
probably damaging |
Het |
| Nfkbid |
T |
A |
7: 30,126,603 (GRCm39) |
N396K |
probably damaging |
Het |
| Oas1c |
A |
G |
5: 120,939,107 (GRCm39) |
F361L |
probably benign |
Het |
| Or10aa1 |
A |
G |
1: 173,869,650 (GRCm39) |
I45V |
probably benign |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,948 (GRCm39) |
Y144F |
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,919,691 (GRCm39) |
K606E |
probably benign |
Het |
| Pkp2 |
C |
A |
16: 16,043,272 (GRCm39) |
L111I |
probably benign |
Het |
| Pogz |
A |
G |
3: 94,782,544 (GRCm39) |
Y635C |
probably damaging |
Het |
| Prdx2 |
A |
G |
8: 85,698,303 (GRCm39) |
T165A |
probably benign |
Het |
| Ptcd3 |
T |
C |
6: 71,862,541 (GRCm39) |
I465V |
probably benign |
Het |
| Ptprd |
G |
A |
4: 75,916,841 (GRCm39) |
T770I |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,585,225 (GRCm39) |
Y1541C |
probably damaging |
Het |
| Rilpl1 |
A |
T |
5: 124,634,200 (GRCm39) |
|
probably null |
Het |
| Rimbp3 |
T |
A |
16: 17,030,568 (GRCm39) |
Y1331N |
probably benign |
Het |
| Sav1 |
T |
C |
12: 70,030,995 (GRCm39) |
R176G |
probably damaging |
Het |
| Sirt5 |
A |
G |
13: 43,536,623 (GRCm39) |
H219R |
probably benign |
Het |
| Skint5 |
T |
G |
4: 113,403,715 (GRCm39) |
D1169A |
unknown |
Het |
| Slfn9 |
G |
T |
11: 82,873,467 (GRCm39) |
Q479K |
possibly damaging |
Het |
| Spata31f1e |
A |
T |
4: 42,793,546 (GRCm39) |
H195Q |
possibly damaging |
Het |
| Susd4 |
T |
C |
1: 182,722,767 (GRCm39) |
I483T |
possibly damaging |
Het |
| Tmem156 |
C |
T |
5: 65,232,912 (GRCm39) |
V217I |
possibly damaging |
Het |
| Tmem79 |
A |
G |
3: 88,239,949 (GRCm39) |
Y254H |
probably benign |
Het |
| Tmprss2 |
T |
A |
16: 97,377,429 (GRCm39) |
K223* |
probably null |
Het |
| Trav3-1 |
T |
C |
14: 52,818,581 (GRCm39) |
V85A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,716,100 (GRCm39) |
|
probably null |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,559 (GRCm39) |
I344V |
not run |
Het |
| Vps13c |
A |
T |
9: 67,847,765 (GRCm39) |
M2176L |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 101,996,223 (GRCm39) |
V3213D |
probably damaging |
Het |
| Zbtb21 |
G |
A |
16: 97,752,654 (GRCm39) |
T543M |
possibly damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,309,691 (GRCm39) |
V377D |
probably benign |
Het |
| Zswim3 |
T |
C |
2: 164,661,699 (GRCm39) |
C60R |
probably 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 |
|
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 |
|
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'- TCCAGCTATCACTGCACCAGAG -3'
(R):5'- TCAGTCTTGTATGTAGAAAGGGGTC -3'
Sequencing Primer
(F):5'- AGAGCCTCCTCACCTGACTGAG -3'
(R):5'- GTCCATAGCACAGAGAGTCCCTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation