Incidental Mutation 'R2330:Micall2'
| ID |
245833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Micall2
|
| Ensembl Gene |
ENSMUSG00000036718 |
| Gene Name |
MICAL-like 2 |
| Synonyms |
MICAL-L2, Jrab, A930021H16Rik |
| MMRRC Submission |
040321-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.352)
|
| Stock # |
R2330 (G1)
|
| Quality Score |
132 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
139692451-139722091 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 139703270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 189
(G189R)
|
| 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: G189R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039707
Gene: ENSMUSG00000036718
AA Change: G189R
| 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 |
unknown
Transcript: ENSMUST00000170773
AA Change: G106R
|
| SMART Domains |
Protein: ENSMUSP00000127937
Gene: ENSMUSG00000036718
AA Change: G106R
| 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 |
0.1784 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
A |
G |
2: 168,481,849 (GRCm39) |
S958P |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Clasp2 |
T |
C |
9: 113,705,372 (GRCm39) |
V594A |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,540,939 (GRCm39) |
I2396T |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,528,300 (GRCm39) |
|
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dnaja3 |
T |
A |
16: 4,507,880 (GRCm39) |
D127E |
probably benign |
Het |
| Etnppl |
T |
C |
3: 130,424,224 (GRCm39) |
L332P |
probably damaging |
Het |
| Gm4559 |
A |
T |
7: 141,827,833 (GRCm39) |
C90S |
unknown |
Het |
| Gramd1c |
T |
C |
16: 43,803,566 (GRCm39) |
N616D |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,528,429 (GRCm39) |
|
probably benign |
Het |
| Hydin |
C |
A |
8: 111,291,641 (GRCm39) |
Q3378K |
probably benign |
Het |
| Lin7b |
A |
G |
7: 45,019,337 (GRCm39) |
|
probably null |
Het |
| Mex3c |
G |
A |
18: 73,706,799 (GRCm39) |
V229I |
probably damaging |
Het |
| Ncam2 |
A |
G |
16: 81,309,809 (GRCm39) |
H433R |
probably benign |
Het |
| Or2t45 |
A |
T |
11: 58,669,825 (GRCm39) |
S291C |
probably damaging |
Het |
| Or4c12 |
T |
C |
2: 89,774,297 (GRCm39) |
N54S |
probably benign |
Het |
| Or6c5 |
C |
T |
10: 129,074,908 (GRCm39) |
Q297* |
probably null |
Het |
| Pml |
A |
T |
9: 58,141,854 (GRCm39) |
V326E |
probably damaging |
Het |
| Prl2c5 |
T |
A |
13: 13,366,378 (GRCm39) |
M219K |
possibly damaging |
Het |
| Rfc1 |
A |
T |
5: 65,470,312 (GRCm39) |
I65N |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,821,816 (GRCm39) |
L17P |
probably damaging |
Het |
| Serpina3m |
A |
G |
12: 104,357,963 (GRCm39) |
K296E |
possibly damaging |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,646,949 (GRCm39) |
Q19R |
probably benign |
Het |
| Tgm6 |
A |
C |
2: 129,985,162 (GRCm39) |
D344A |
probably damaging |
Het |
| Zfp7 |
T |
C |
15: 76,775,509 (GRCm39) |
I517T |
probably damaging |
Het |
| Zfp831 |
T |
A |
2: 174,489,882 (GRCm39) |
Y1216* |
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 |
|
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 |
|
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'- AAGAGGATATTGGGGTTCAGCTATAC -3'
(R):5'- TCTTTCCAACGAGGCCACTG -3'
Sequencing Primer
(F):5'- GGGTTCAGCTATACTGTCACCAATG -3'
(R):5'- AAGGTCCTGAGTGTGTAGCCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation