Incidental Mutation 'R4451:Micall2'
| ID |
328963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Micall2
|
| Ensembl Gene |
ENSMUSG00000036718 |
| Gene Name |
MICAL-like 2 |
| Synonyms |
MICAL-L2, Jrab, A930021H16Rik |
| MMRRC Submission |
041712-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.352)
|
| Stock # |
R4451 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
139692451-139722091 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139692852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 891
(E891G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044642]
[ENSMUST00000170773]
|
| AlphaFold |
Q3TN34 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000044642
AA Change: E974G
|
| SMART Domains |
Protein: ENSMUSP00000039707
Gene: ENSMUSG00000036718
AA Change: E974G
| 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 |
noncoding transcript
Transcript: ENSMUST00000164584
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165645
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170773
AA Change: E891G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127937
Gene: ENSMUSG00000036718
AA Change: E891G
| 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 |
0.2069 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
C |
5: 62,906,513 (GRCm39) |
F169V |
probably benign |
Het |
| Baiap2l1 |
T |
A |
5: 144,215,362 (GRCm39) |
Y381F |
probably damaging |
Het |
| Cdc27 |
A |
T |
11: 104,408,221 (GRCm39) |
M563K |
probably benign |
Het |
| Cela3b |
G |
A |
4: 137,148,355 (GRCm39) |
|
probably benign |
Het |
| Cyp2c29 |
A |
T |
19: 39,279,270 (GRCm39) |
D50V |
probably damaging |
Het |
| Dbpht2 |
A |
T |
12: 74,345,806 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah9 |
T |
A |
11: 65,772,467 (GRCm39) |
Q3755L |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,962,792 (GRCm39) |
T588A |
possibly damaging |
Het |
| Dync2h1 |
T |
A |
9: 6,983,477 (GRCm39) |
R4022S |
probably benign |
Het |
| Gm20481 |
T |
G |
17: 35,191,109 (GRCm39) |
|
probably benign |
Het |
| Gm7347 |
A |
G |
5: 26,260,004 (GRCm39) |
I182T |
possibly damaging |
Het |
| Gns |
G |
A |
10: 121,212,601 (GRCm39) |
G188S |
probably damaging |
Het |
| Grm5 |
T |
G |
7: 87,724,340 (GRCm39) |
|
probably null |
Het |
| Gstm4 |
T |
C |
3: 107,951,291 (GRCm39) |
|
probably null |
Het |
| Il7r |
T |
A |
15: 9,513,034 (GRCm39) |
K158N |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,266,749 (GRCm39) |
Y489C |
probably benign |
Het |
| Kcns1 |
C |
T |
2: 164,010,598 (GRCm39) |
E54K |
possibly damaging |
Het |
| Klra5 |
T |
A |
6: 129,885,797 (GRCm39) |
R31* |
probably null |
Het |
| Krt13 |
T |
C |
11: 100,008,827 (GRCm39) |
T409A |
unknown |
Het |
| Lce1e |
C |
T |
3: 92,614,967 (GRCm39) |
G127S |
unknown |
Het |
| Mfsd14a |
T |
C |
3: 116,456,127 (GRCm39) |
M1V |
probably null |
Het |
| Mpeg1 |
A |
T |
19: 12,440,596 (GRCm39) |
K685* |
probably null |
Het |
| Nbea |
A |
G |
3: 55,899,753 (GRCm39) |
|
probably null |
Het |
| Nup155 |
A |
G |
15: 8,180,366 (GRCm39) |
M1148V |
probably benign |
Het |
| Or51aa5 |
A |
G |
7: 103,167,184 (GRCm39) |
S136P |
probably damaging |
Het |
| Or5m3b |
T |
C |
2: 85,872,303 (GRCm39) |
S215P |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,542,508 (GRCm39) |
D695V |
possibly damaging |
Het |
| Ptf1a |
G |
T |
2: 19,451,092 (GRCm39) |
A141S |
possibly damaging |
Het |
| Pxmp2 |
A |
T |
5: 110,425,531 (GRCm39) |
V168E |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,644,505 (GRCm39) |
K427E |
probably damaging |
Het |
| Susd2 |
A |
G |
10: 75,475,232 (GRCm39) |
V526A |
probably damaging |
Het |
| Tbx2 |
T |
C |
11: 85,731,643 (GRCm39) |
S647P |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,637,996 (GRCm39) |
T651A |
probably benign |
Het |
| Trim68 |
T |
A |
7: 102,333,680 (GRCm39) |
M1L |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,584,250 (GRCm39) |
L20540* |
probably null |
Het |
| Usf3 |
A |
T |
16: 44,038,251 (GRCm39) |
K910N |
possibly damaging |
Het |
| Vmn1r14 |
T |
G |
6: 57,211,213 (GRCm39) |
Y220D |
possibly damaging |
Het |
| Vmn1r209 |
T |
A |
13: 22,990,668 (GRCm39) |
K7N |
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 |
|
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 |
|
R5118:Micall2
|
UTSW |
5 |
139,702,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCTTTCTCTGGAGGCCTGAG -3'
(R):5'- TATCCCCAGATCACTGTTGATTGG -3'
Sequencing Primer
(F):5'- GGAGAACAAAGCCATGCAGCC -3'
(R):5'- CCAGATCACTGTTGATTGGCAAGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation