Incidental Mutation 'R5118:Micall2'
ID |
392733 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Micall2
|
Ensembl Gene |
ENSMUSG00000036718 |
Gene Name |
MICAL-like 2 |
Synonyms |
MICAL-L2, Jrab, A930021H16Rik |
MMRRC Submission |
042706-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.352)
|
Stock # |
R5118 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
139692451-139722091 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 139702202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 347
(T347M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044642]
[ENSMUST00000170773]
|
AlphaFold |
Q3TN34 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044642
AA Change: T347M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039707 Gene: ENSMUSG00000036718 AA Change: T347M
Domain | Start | End | E-Value | Type |
CH
|
3 |
102 |
4.34e-20 |
SMART |
LIM
|
187 |
241 |
1.62e-5 |
SMART |
low complexity region
|
242 |
253 |
N/A |
INTRINSIC |
low complexity region
|
326 |
344 |
N/A |
INTRINSIC |
low complexity region
|
428 |
489 |
N/A |
INTRINSIC |
low complexity region
|
502 |
518 |
N/A |
INTRINSIC |
low complexity region
|
728 |
746 |
N/A |
INTRINSIC |
low complexity region
|
755 |
770 |
N/A |
INTRINSIC |
DUF3585
|
840 |
980 |
3.1e-63 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165645
|
Predicted Effect |
unknown
Transcript: ENSMUST00000170773
AA Change: T264M
|
SMART Domains |
Protein: ENSMUSP00000127937 Gene: ENSMUSG00000036718 AA Change: T264M
Domain | Start | End | E-Value | Type |
SCOP:d1bkra_
|
1 |
25 |
9e-5 |
SMART |
Blast:DUF3585
|
1 |
45 |
2e-7 |
BLAST |
LIM
|
104 |
158 |
1.62e-5 |
SMART |
low complexity region
|
159 |
170 |
N/A |
INTRINSIC |
low complexity region
|
243 |
261 |
N/A |
INTRINSIC |
low complexity region
|
345 |
406 |
N/A |
INTRINSIC |
low complexity region
|
419 |
435 |
N/A |
INTRINSIC |
low complexity region
|
645 |
663 |
N/A |
INTRINSIC |
low complexity region
|
672 |
687 |
N/A |
INTRINSIC |
DUF3585
|
757 |
897 |
3.1e-63 |
SMART |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
Validation Efficiency |
96% (52/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Adamts2 |
A |
G |
11: 50,672,696 (GRCm39) |
E648G |
probably damaging |
Het |
Ankrd55 |
A |
G |
13: 112,492,473 (GRCm39) |
S187G |
probably benign |
Het |
Cd44 |
C |
A |
2: 102,695,715 (GRCm39) |
E52D |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,814,204 (GRCm39) |
I603F |
unknown |
Het |
Dmxl2 |
C |
A |
9: 54,368,271 (GRCm39) |
R233L |
probably damaging |
Het |
Dop1a |
T |
C |
9: 86,388,312 (GRCm39) |
F429L |
probably damaging |
Het |
Epsti1 |
T |
G |
14: 78,224,122 (GRCm39) |
|
probably null |
Het |
Erfe |
G |
T |
1: 91,298,438 (GRCm39) |
|
probably null |
Het |
Galnt5 |
A |
G |
2: 57,905,015 (GRCm39) |
D526G |
probably damaging |
Het |
Gatd1 |
A |
T |
7: 140,986,719 (GRCm39) |
|
probably benign |
Het |
Gm1330 |
T |
C |
2: 148,844,906 (GRCm39) |
|
probably benign |
Het |
Gm6181 |
G |
A |
7: 52,405,364 (GRCm39) |
|
noncoding transcript |
Het |
Irak2 |
T |
A |
6: 113,642,772 (GRCm39) |
V68D |
probably benign |
Het |
Kdm1a |
A |
G |
4: 136,284,669 (GRCm39) |
|
probably benign |
Het |
Kidins220 |
C |
A |
12: 25,042,296 (GRCm39) |
Q198K |
probably damaging |
Het |
Lgr5 |
A |
G |
10: 115,288,244 (GRCm39) |
V728A |
possibly damaging |
Het |
Mrap2 |
T |
C |
9: 87,064,756 (GRCm39) |
F166L |
possibly damaging |
Het |
Msh3 |
A |
T |
13: 92,445,942 (GRCm39) |
|
probably benign |
Het |
Mul1 |
T |
A |
4: 138,166,660 (GRCm39) |
L238Q |
probably damaging |
Het |
Nuak1 |
G |
T |
10: 84,210,848 (GRCm39) |
H413Q |
probably benign |
Het |
Or10j27 |
T |
C |
1: 172,958,484 (GRCm39) |
Q100R |
possibly damaging |
Het |
Pcnt |
C |
T |
10: 76,248,002 (GRCm39) |
A931T |
probably damaging |
Het |
Pramel20 |
T |
C |
4: 143,297,697 (GRCm39) |
L39P |
probably damaging |
Het |
Pramel34 |
T |
A |
5: 93,785,656 (GRCm39) |
D208V |
probably benign |
Het |
Psmb4 |
T |
C |
3: 94,792,253 (GRCm39) |
Y223C |
probably damaging |
Het |
Rbm15b |
G |
T |
9: 106,763,301 (GRCm39) |
A289E |
possibly damaging |
Het |
Reg3b |
T |
A |
6: 78,349,111 (GRCm39) |
V79E |
probably damaging |
Het |
Rsl1 |
A |
G |
13: 67,330,045 (GRCm39) |
I164M |
probably damaging |
Het |
Rtp1 |
T |
C |
16: 23,250,285 (GRCm39) |
F217L |
probably benign |
Het |
Sfmbt1 |
T |
C |
14: 30,512,727 (GRCm39) |
L360P |
probably damaging |
Het |
Sorbs2 |
T |
C |
8: 46,248,822 (GRCm39) |
V611A |
probably damaging |
Het |
Tenm4 |
T |
A |
7: 96,542,293 (GRCm39) |
D1935E |
probably damaging |
Het |
Tep1 |
T |
C |
14: 51,093,044 (GRCm39) |
|
probably null |
Het |
Tmppe |
T |
G |
9: 114,234,549 (GRCm39) |
S283A |
probably benign |
Het |
Tmtc1 |
A |
G |
6: 148,171,485 (GRCm39) |
|
probably benign |
Het |
Trp63 |
T |
C |
16: 25,707,760 (GRCm39) |
I552T |
unknown |
Het |
Tspan2 |
C |
A |
3: 102,657,151 (GRCm39) |
D45E |
probably benign |
Het |
Tut4 |
T |
A |
4: 108,377,489 (GRCm39) |
D966E |
possibly damaging |
Het |
Ubr1 |
T |
C |
2: 120,712,745 (GRCm39) |
E1396G |
probably benign |
Het |
Usp17lc |
A |
T |
7: 103,067,868 (GRCm39) |
T388S |
probably benign |
Het |
Wdr46 |
T |
C |
17: 34,167,811 (GRCm39) |
V508A |
possibly damaging |
Het |
Zfp462 |
T |
A |
4: 55,010,667 (GRCm39) |
Y878N |
probably damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
Zfp954 |
T |
A |
7: 7,118,714 (GRCm39) |
T277S |
probably benign |
Het |
|
Other mutations in Micall2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00231:Micall2
|
APN |
5 |
139,703,311 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL00496:Micall2
|
APN |
5 |
139,702,083 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02641:Micall2
|
APN |
5 |
139,705,094 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03245:Micall2
|
APN |
5 |
139,705,014 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03252:Micall2
|
APN |
5 |
139,702,481 (GRCm39) |
missense |
probably benign |
0.01 |
R1214:Micall2
|
UTSW |
5 |
139,697,396 (GRCm39) |
missense |
probably damaging |
0.97 |
R1468:Micall2
|
UTSW |
5 |
139,705,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Micall2
|
UTSW |
5 |
139,705,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R1831:Micall2
|
UTSW |
5 |
139,702,508 (GRCm39) |
missense |
probably benign |
0.09 |
R1833:Micall2
|
UTSW |
5 |
139,702,508 (GRCm39) |
missense |
probably benign |
0.09 |
R1969:Micall2
|
UTSW |
5 |
139,721,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R2023:Micall2
|
UTSW |
5 |
139,703,266 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2060:Micall2
|
UTSW |
5 |
139,697,317 (GRCm39) |
missense |
probably damaging |
0.98 |
R2330:Micall2
|
UTSW |
5 |
139,703,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R3820:Micall2
|
UTSW |
5 |
139,701,611 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4299:Micall2
|
UTSW |
5 |
139,695,226 (GRCm39) |
intron |
probably benign |
|
R4334:Micall2
|
UTSW |
5 |
139,699,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R4451:Micall2
|
UTSW |
5 |
139,692,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R4769:Micall2
|
UTSW |
5 |
139,692,641 (GRCm39) |
missense |
probably damaging |
0.97 |
R4911:Micall2
|
UTSW |
5 |
139,702,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R4996:Micall2
|
UTSW |
5 |
139,696,344 (GRCm39) |
missense |
probably benign |
0.31 |
R5155:Micall2
|
UTSW |
5 |
139,695,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R5475:Micall2
|
UTSW |
5 |
139,702,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R5750:Micall2
|
UTSW |
5 |
139,701,456 (GRCm39) |
splice site |
probably null |
|
R5998:Micall2
|
UTSW |
5 |
139,692,666 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6181:Micall2
|
UTSW |
5 |
139,702,506 (GRCm39) |
missense |
probably benign |
0.41 |
R6852:Micall2
|
UTSW |
5 |
139,701,548 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7046:Micall2
|
UTSW |
5 |
139,694,699 (GRCm39) |
unclassified |
probably benign |
|
R7395:Micall2
|
UTSW |
5 |
139,702,124 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8514:Micall2
|
UTSW |
5 |
139,701,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R8889:Micall2
|
UTSW |
5 |
139,703,254 (GRCm39) |
missense |
probably damaging |
0.98 |
R8892:Micall2
|
UTSW |
5 |
139,703,254 (GRCm39) |
missense |
probably damaging |
0.98 |
R8960:Micall2
|
UTSW |
5 |
139,702,025 (GRCm39) |
missense |
probably benign |
0.23 |
R9060:Micall2
|
UTSW |
5 |
139,705,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R9209:Micall2
|
UTSW |
5 |
139,696,170 (GRCm39) |
missense |
unknown |
|
R9227:Micall2
|
UTSW |
5 |
139,701,827 (GRCm39) |
missense |
unknown |
|
R9230:Micall2
|
UTSW |
5 |
139,701,827 (GRCm39) |
missense |
unknown |
|
R9260:Micall2
|
UTSW |
5 |
139,695,453 (GRCm39) |
missense |
unknown |
|
R9452:Micall2
|
UTSW |
5 |
139,703,311 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1088:Micall2
|
UTSW |
5 |
139,702,050 (GRCm39) |
missense |
probably benign |
0.12 |
Z1088:Micall2
|
UTSW |
5 |
139,692,649 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Micall2
|
UTSW |
5 |
139,696,057 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCGCTGTGTTTGAAGACTCTGAG -3'
(R):5'- TCTCATGGACGGTTCAGGAG -3'
Sequencing Primer
(F):5'- AGACTCTGAGTTCAAGTTGAGC -3'
(R):5'- CTGAGGGTCAGGACAGCAGC -3'
|
Posted On |
2016-06-15 |