Incidental Mutation 'R4334:Micall2'
| ID |
323691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Micall2
|
| Ensembl Gene |
ENSMUSG00000036718 |
| Gene Name |
MICAL-like 2 |
| Synonyms |
MICAL-L2, Jrab, A930021H16Rik |
| MMRRC Submission |
041664-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.333)
|
| Stock # |
R4334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
139692451-139722091 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139699105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 527
(E527G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044642]
[ENSMUST00000170773]
|
| AlphaFold |
Q3TN34 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000044642
AA Change: E610G
|
| SMART Domains |
Protein: ENSMUSP00000039707
Gene: ENSMUSG00000036718
AA Change: E610G
| 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: E527G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127937
Gene: ENSMUSG00000036718
AA Change: E527G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,537,242 (GRCm39) |
V447E |
probably damaging |
Het |
| Adcyap1 |
T |
C |
17: 93,509,696 (GRCm39) |
L49P |
probably benign |
Het |
| B4galt4 |
T |
C |
16: 38,572,621 (GRCm39) |
I102T |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,840,476 (GRCm39) |
D110G |
probably benign |
Het |
| Ccdc141 |
C |
T |
2: 77,000,776 (GRCm39) |
V19I |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,892,031 (GRCm39) |
L147P |
probably damaging |
Het |
| Cdc5l |
A |
T |
17: 45,721,712 (GRCm39) |
D519E |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,220,838 (GRCm39) |
T1305K |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,644,478 (GRCm39) |
V158D |
possibly damaging |
Het |
| Clstn2 |
T |
G |
9: 97,345,581 (GRCm39) |
Y589S |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,380,640 (GRCm39) |
K1863E |
possibly damaging |
Het |
| Enpp3 |
A |
T |
10: 24,669,487 (GRCm39) |
M491K |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fkbp15 |
G |
A |
4: 62,221,456 (GRCm39) |
A1170V |
possibly damaging |
Het |
| Foxa2 |
T |
C |
2: 147,886,623 (GRCm39) |
N64S |
possibly damaging |
Het |
| Foxm1 |
T |
C |
6: 128,342,930 (GRCm39) |
I88T |
probably damaging |
Het |
| Gm3173 |
A |
T |
14: 15,728,364 (GRCm39) |
I8L |
possibly damaging |
Het |
| Gpatch3 |
A |
G |
4: 133,309,792 (GRCm39) |
D375G |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,876,402 (GRCm39) |
F4436L |
probably damaging |
Het |
| Htr3b |
G |
A |
9: 48,856,809 (GRCm39) |
A223V |
probably damaging |
Het |
| Iars2 |
T |
A |
1: 185,035,591 (GRCm39) |
T550S |
probably benign |
Het |
| Igsf9 |
A |
T |
1: 172,321,779 (GRCm39) |
K149* |
probably null |
Het |
| Khnyn |
A |
G |
14: 56,131,499 (GRCm39) |
D536G |
probably damaging |
Het |
| Kng1 |
T |
C |
16: 22,898,370 (GRCm39) |
V409A |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Madd |
C |
T |
2: 90,970,917 (GRCm39) |
V1508I |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,110,040 (GRCm39) |
S1141P |
probably damaging |
Het |
| Ncoa2 |
G |
A |
1: 13,245,187 (GRCm39) |
P504S |
possibly damaging |
Het |
| Notch1 |
G |
A |
2: 26,350,048 (GRCm39) |
T2364I |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,202,475 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
A |
G |
9: 98,943,904 (GRCm39) |
L633P |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,299,816 (GRCm39) |
D483E |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,392 (GRCm39) |
N718D |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,659,010 (GRCm39) |
A126T |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Unc79 |
C |
T |
12: 103,045,233 (GRCm39) |
T803M |
probably benign |
Het |
| Vmn2r118 |
A |
T |
17: 55,917,347 (GRCm39) |
F388L |
possibly damaging |
Het |
| Vmn2r71 |
T |
C |
7: 85,269,042 (GRCm39) |
V415A |
probably benign |
Het |
| Wdr4 |
A |
T |
17: 31,718,126 (GRCm39) |
F316Y |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,080 (GRCm39) |
Y276C |
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 |
|
|
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'- AACACTTGTGGAGCAGCAG -3'
(R):5'- CTTTGGGCCATCTATCTGAGG -3'
Sequencing Primer
(F):5'- TTGTGGAGCAGCAGACCCC -3'
(R):5'- CATCTATCTGAGGGTAGATTGTCCAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation