Incidental Mutation 'R3820:Micall2'
ID |
274853 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Micall2
|
Ensembl Gene |
ENSMUSG00000036718 |
Gene Name |
MICAL-like 2 |
Synonyms |
MICAL-L2, Jrab, A930021H16Rik |
MMRRC Submission |
040882-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.352)
|
Stock # |
R3820 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
139692451-139722091 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 139701611 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 461
(G461D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127937
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044642]
[ENSMUST00000170773]
|
AlphaFold |
Q3TN34 |
Predicted Effect |
unknown
Transcript: ENSMUST00000044642
AA Change: G544D
|
SMART Domains |
Protein: ENSMUSP00000039707 Gene: ENSMUSG00000036718 AA Change: G544D
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 |
possibly damaging
Transcript: ENSMUST00000170773
AA Change: G461D
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000127937 Gene: ENSMUSG00000036718 AA Change: G461D
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.8%
- 20x: 96.4%
|
Validation Efficiency |
96% (47/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
G |
T |
18: 6,630,166 (GRCm39) |
|
probably null |
Het |
Aarsd1 |
T |
A |
11: 101,301,971 (GRCm39) |
I332F |
probably damaging |
Het |
Abcd2 |
C |
T |
15: 91,058,908 (GRCm39) |
G512D |
probably damaging |
Het |
Adam6a |
T |
C |
12: 113,507,798 (GRCm39) |
I57T |
probably benign |
Het |
Adam6b |
C |
T |
12: 113,453,984 (GRCm39) |
T267I |
probably benign |
Het |
Ap1g2 |
G |
A |
14: 55,338,030 (GRCm39) |
|
probably benign |
Het |
Arhgap22 |
G |
A |
14: 33,089,378 (GRCm39) |
E455K |
probably benign |
Het |
Bltp1 |
G |
A |
3: 37,094,583 (GRCm39) |
V917I |
probably damaging |
Het |
Ccdc93 |
T |
C |
1: 121,389,969 (GRCm39) |
I253T |
probably damaging |
Het |
Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
Cnot6 |
A |
T |
11: 49,579,999 (GRCm39) |
S98T |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
Edar |
T |
C |
10: 58,457,185 (GRCm39) |
Y131C |
probably damaging |
Het |
Eif5 |
A |
T |
12: 111,506,618 (GRCm39) |
R43* |
probably null |
Het |
Eml4 |
C |
A |
17: 83,780,494 (GRCm39) |
T667K |
probably damaging |
Het |
Fchsd1 |
A |
G |
18: 38,102,510 (GRCm39) |
|
probably benign |
Het |
Flt1 |
A |
G |
5: 147,636,827 (GRCm39) |
|
probably benign |
Het |
Frem2 |
T |
A |
3: 53,424,270 (GRCm39) |
I3056F |
probably damaging |
Het |
Hivep1 |
A |
T |
13: 42,337,787 (GRCm39) |
H2622L |
possibly damaging |
Het |
Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
Itgb3 |
C |
A |
11: 104,524,438 (GRCm39) |
Y191* |
probably null |
Het |
Kcnma1 |
T |
C |
14: 23,350,006 (GRCm39) |
T1178A |
possibly damaging |
Het |
Kcnt1 |
A |
G |
2: 25,790,904 (GRCm39) |
H486R |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,852,277 (GRCm39) |
N950S |
probably benign |
Het |
Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
Lrrc4b |
T |
A |
7: 44,111,982 (GRCm39) |
V618E |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
Pcdhga10 |
A |
G |
18: 37,880,995 (GRCm39) |
N252S |
probably damaging |
Het |
Pcdhgb7 |
C |
A |
18: 37,885,286 (GRCm39) |
T152K |
possibly damaging |
Het |
Pds5a |
A |
G |
5: 65,811,419 (GRCm39) |
V338A |
possibly damaging |
Het |
Pds5b |
T |
C |
5: 150,659,802 (GRCm39) |
V255A |
possibly damaging |
Het |
Prkar2a |
T |
G |
9: 108,624,155 (GRCm39) |
F391V |
probably damaging |
Het |
Prr14l |
A |
G |
5: 32,986,328 (GRCm39) |
C1056R |
probably damaging |
Het |
Ptpn23 |
A |
G |
9: 110,218,862 (GRCm39) |
|
probably benign |
Het |
Serpinb5 |
T |
A |
1: 106,802,802 (GRCm39) |
Y112* |
probably null |
Het |
Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
Tdrd5 |
A |
G |
1: 156,113,053 (GRCm39) |
V409A |
probably benign |
Het |
Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
Tmem8b |
C |
A |
4: 43,689,745 (GRCm39) |
H800N |
probably damaging |
Het |
Trpm3 |
A |
T |
19: 22,964,813 (GRCm39) |
N1436I |
probably benign |
Het |
Unc13c |
A |
T |
9: 73,838,240 (GRCm39) |
S870R |
probably benign |
Het |
Vmn2r16 |
C |
T |
5: 109,510,143 (GRCm39) |
P509S |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,785,125 (GRCm39) |
E112D |
probably damaging |
Het |
Xpnpep1 |
G |
A |
19: 52,992,250 (GRCm39) |
|
probably benign |
Het |
Zfp729a |
A |
T |
13: 67,769,438 (GRCm39) |
C264S |
probably damaging |
Het |
Zmynd8 |
T |
A |
2: 165,657,381 (GRCm39) |
K521* |
probably null |
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 |
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 |
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'- TCACAGAGAGACAGACCTGG -3'
(R):5'- ACTGTAGTGACTGTCCCCAC -3'
Sequencing Primer
(F):5'- GCAGGTCGCAGCTACATC -3'
(R):5'- AAGGTCCCCACTGTGGTGTC -3'
|
Posted On |
2015-04-02 |