Incidental Mutation 'IGL00508:Micall1'
| ID |
12006 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Micall1
|
| Ensembl Gene |
ENSMUSG00000033039 |
| Gene Name |
microtubule associated monooxygenase, calponin and LIM domain containing -like 1 |
| Synonyms |
Mus EST 820961, D15Mit260, D15N2e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL00508
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
78993098-79021100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79014768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 715
(K715E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040320]
[ENSMUST00000169604]
[ENSMUST00000187550]
[ENSMUST00000188562]
[ENSMUST00000189761]
[ENSMUST00000190730]
[ENSMUST00000229031]
[ENSMUST00000190509]
[ENSMUST00000190959]
|
| AlphaFold |
Q8BGT6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040320
AA Change: K715E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042053
Gene: ENSMUSG00000033039
AA Change: K715E
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
4 |
103 |
5.64e-19 |
SMART |
|
low complexity region
|
113 |
135 |
N/A |
INTRINSIC |
|
LIM
|
164 |
219 |
1.15e-5 |
SMART |
|
low complexity region
|
241 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
375 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
477 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
586 |
N/A |
INTRINSIC |
|
DUF3585
|
685 |
825 |
5.07e-68 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169604
|
| SMART Domains |
Protein: ENSMUSP00000129244
Gene: ENSMUSG00000033029
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0193
|
4 |
213 |
3.2e-92 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186559
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187550
|
| SMART Domains |
Protein: ENSMUSP00000140978
Gene: ENSMUSG00000033029
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0193
|
1 |
57 |
2.1e-22 |
PFAM |
|
Pfam:UPF0193
|
54 |
155 |
8.3e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188562
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189761
|
| SMART Domains |
Protein: ENSMUSP00000139736
Gene: ENSMUSG00000033029
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0193
|
1 |
39 |
4.9e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230779
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190730
|
| SMART Domains |
Protein: ENSMUSP00000139884
Gene: ENSMUSG00000033029
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0193
|
1 |
57 |
2.1e-22 |
PFAM |
|
Pfam:UPF0193
|
54 |
155 |
8.3e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229694
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230202
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190509
|
| SMART Domains |
Protein: ENSMUSP00000140611
Gene: ENSMUSG00000033029
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0193
|
33 |
195 |
4.4e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190959
|
| SMART Domains |
Protein: ENSMUSP00000140347
Gene: ENSMUSG00000033029
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0193
|
1 |
216 |
1.5e-75 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
C |
13: 81,654,306 (GRCm39) |
D2188E |
probably damaging |
Het |
| Atrx |
A |
G |
X: 104,867,405 (GRCm39) |
S2026P |
probably damaging |
Het |
| Cacna1b |
A |
C |
2: 24,547,301 (GRCm39) |
|
probably null |
Het |
| Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,438,367 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
G |
2: 91,436,601 (GRCm39) |
V1567G |
probably damaging |
Het |
| Cyp2c38 |
A |
T |
19: 39,449,169 (GRCm39) |
Y61* |
probably null |
Het |
| D130052B06Rik |
A |
G |
11: 33,549,402 (GRCm39) |
E7G |
unknown |
Het |
| Dhx38 |
A |
G |
8: 110,283,566 (GRCm39) |
L527P |
possibly damaging |
Het |
| Dnaaf5 |
A |
G |
5: 139,163,701 (GRCm39) |
N653D |
probably benign |
Het |
| Dnah8 |
T |
G |
17: 31,074,904 (GRCm39) |
M4541R |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 118,858,636 (GRCm39) |
T617S |
probably benign |
Het |
| Fpr2 |
A |
T |
17: 18,113,034 (GRCm39) |
N10I |
probably damaging |
Het |
| Frmd4a |
A |
T |
2: 4,599,545 (GRCm39) |
K524* |
probably null |
Het |
| Gpr45 |
C |
T |
1: 43,071,452 (GRCm39) |
P32S |
possibly damaging |
Het |
| H2-Eb2 |
A |
T |
17: 34,553,341 (GRCm39) |
I176F |
probably damaging |
Het |
| Hcrtr1 |
T |
A |
4: 130,031,062 (GRCm39) |
N74I |
probably damaging |
Het |
| Ifi47 |
C |
T |
11: 48,986,241 (GRCm39) |
Q3* |
probably null |
Het |
| Krt8 |
T |
A |
15: 101,906,460 (GRCm39) |
M350L |
probably benign |
Het |
| Lilra6 |
A |
G |
7: 3,914,553 (GRCm39) |
S533P |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,565,741 (GRCm39) |
S2327T |
unknown |
Het |
| Mcoln3 |
T |
A |
3: 145,839,683 (GRCm39) |
I345N |
probably damaging |
Het |
| Mettl3 |
C |
A |
14: 52,532,436 (GRCm39) |
|
probably benign |
Het |
| Mgat4a |
G |
A |
1: 37,488,204 (GRCm39) |
R472* |
probably null |
Het |
| Pak1 |
G |
T |
7: 97,503,775 (GRCm39) |
G37C |
probably benign |
Het |
| Pomt2 |
T |
G |
12: 87,166,401 (GRCm39) |
H426P |
probably damaging |
Het |
| Pou2f3 |
G |
A |
9: 43,051,258 (GRCm39) |
P155S |
probably benign |
Het |
| Psg25 |
A |
G |
7: 18,263,656 (GRCm39) |
Y56H |
probably benign |
Het |
| Rab9 |
G |
T |
X: 165,240,860 (GRCm39) |
Y150* |
probably null |
Het |
| Rhox2g |
T |
A |
X: 36,824,463 (GRCm39) |
N152I |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,498,844 (GRCm39) |
|
probably benign |
Het |
| Simc1 |
C |
A |
13: 54,672,989 (GRCm39) |
Q446K |
probably benign |
Het |
| Svs5 |
G |
T |
2: 164,078,962 (GRCm39) |
T315K |
possibly damaging |
Het |
| Syt9 |
C |
T |
7: 107,024,574 (GRCm39) |
R156* |
probably null |
Het |
| Tmem260 |
A |
T |
14: 48,746,578 (GRCm39) |
Y618F |
probably damaging |
Het |
| Wdr44 |
A |
G |
X: 23,666,783 (GRCm39) |
I719V |
possibly damaging |
Het |
| Zfp518a |
T |
G |
19: 40,901,914 (GRCm39) |
I614M |
probably damaging |
Het |
|
| Other mutations in Micall1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Micall1
|
APN |
15 |
78,999,221 (GRCm39) |
splice site |
probably benign |
|
|
IGL00496:Micall1
|
APN |
15 |
78,999,221 (GRCm39) |
splice site |
probably benign |
|
|
IGL01626:Micall1
|
APN |
15 |
79,014,712 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01868:Micall1
|
APN |
15 |
78,999,260 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL03062:Micall1
|
APN |
15 |
78,998,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0086:Micall1
|
UTSW |
15 |
79,009,689 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0099:Micall1
|
UTSW |
15 |
79,016,101 (GRCm39) |
splice site |
probably benign |
|
|
R0282:Micall1
|
UTSW |
15 |
79,016,101 (GRCm39) |
splice site |
probably benign |
|
|
R0727:Micall1
|
UTSW |
15 |
79,004,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1859:Micall1
|
UTSW |
15 |
79,007,145 (GRCm39) |
intron |
probably benign |
|
|
R2142:Micall1
|
UTSW |
15 |
79,014,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2228:Micall1
|
UTSW |
15 |
79,014,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3508:Micall1
|
UTSW |
15 |
79,006,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Micall1
|
UTSW |
15 |
79,007,146 (GRCm39) |
intron |
probably benign |
|
|
R4888:Micall1
|
UTSW |
15 |
79,016,048 (GRCm39) |
nonsense |
probably null |
|
|
R5059:Micall1
|
UTSW |
15 |
79,007,034 (GRCm39) |
intron |
probably benign |
|
|
R5097:Micall1
|
UTSW |
15 |
79,014,078 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5451:Micall1
|
UTSW |
15 |
79,011,104 (GRCm39) |
splice site |
probably null |
|
|
R5710:Micall1
|
UTSW |
15 |
79,011,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5727:Micall1
|
UTSW |
15 |
79,014,678 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7135:Micall1
|
UTSW |
15 |
78,993,624 (GRCm39) |
missense |
unknown |
|
|
R7186:Micall1
|
UTSW |
15 |
79,009,575 (GRCm39) |
missense |
unknown |
|
|
R7297:Micall1
|
UTSW |
15 |
79,005,097 (GRCm39) |
missense |
unknown |
|
|
R7472:Micall1
|
UTSW |
15 |
79,006,760 (GRCm39) |
missense |
unknown |
|
|
R8494:Micall1
|
UTSW |
15 |
79,005,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8714:Micall1
|
UTSW |
15 |
79,011,510 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8937:Micall1
|
UTSW |
15 |
79,011,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9440:Micall1
|
UTSW |
15 |
79,011,159 (GRCm39) |
missense |
|
|
|
R9760:Micall1
|
UTSW |
15 |
79,005,032 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation