Incidental Mutation 'IGL01626:Micall1'
| ID |
92785 |
| 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 # |
IGL01626
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
78993098-79021100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79014712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 696
(D696G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040320]
[ENSMUST00000169604]
[ENSMUST00000187550]
[ENSMUST00000188562]
[ENSMUST00000189761]
[ENSMUST00000190730]
[ENSMUST00000190959]
[ENSMUST00000229031]
[ENSMUST00000190509]
|
| AlphaFold |
Q8BGT6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040320
AA Change: D696G
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000042053
Gene: ENSMUSG00000033039
AA Change: D696G
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000229694
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230202
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229031
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
G |
3: 59,926,595 (GRCm39) |
D188G |
probably damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,465 (GRCm39) |
Y447C |
probably damaging |
Het |
| Brd1 |
A |
T |
15: 88,585,090 (GRCm39) |
L915M |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 28,665,564 (GRCm39) |
E152D |
possibly damaging |
Het |
| Dnase2b |
A |
G |
3: 146,290,371 (GRCm39) |
|
probably null |
Het |
| Ecpas |
G |
A |
4: 58,832,814 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,005,181 (GRCm39) |
V1860A |
probably damaging |
Het |
| Fbxl5 |
C |
A |
5: 43,916,047 (GRCm39) |
G455V |
probably benign |
Het |
| Fpr-rs4 |
G |
A |
17: 18,242,493 (GRCm39) |
V167M |
probably damaging |
Het |
| Fut7 |
C |
A |
2: 25,315,343 (GRCm39) |
Y153* |
probably null |
Het |
| Gnptab |
A |
G |
10: 88,273,357 (GRCm39) |
T1045A |
probably damaging |
Het |
| Gucy1a1 |
T |
A |
3: 82,015,926 (GRCm39) |
D354V |
probably damaging |
Het |
| Gucy2e |
A |
G |
11: 69,123,681 (GRCm39) |
V406A |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,734,890 (GRCm39) |
F160S |
probably benign |
Het |
| Ice2 |
T |
G |
9: 69,314,614 (GRCm39) |
V42G |
probably benign |
Het |
| L3mbtl4 |
A |
G |
17: 68,937,197 (GRCm39) |
Y406C |
probably damaging |
Het |
| Lepr |
C |
T |
4: 101,590,731 (GRCm39) |
T103I |
probably benign |
Het |
| Ly75 |
T |
A |
2: 60,131,359 (GRCm39) |
M1589L |
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,913,238 (GRCm39) |
V644A |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,555,220 (GRCm39) |
V8A |
possibly damaging |
Het |
| Myo1h |
A |
G |
5: 114,453,027 (GRCm39) |
D9G |
probably damaging |
Het |
| Nop14 |
T |
A |
5: 34,806,689 (GRCm39) |
K472* |
probably null |
Het |
| Npat |
T |
A |
9: 53,467,871 (GRCm39) |
D275E |
possibly damaging |
Het |
| Nt5c1b |
A |
G |
12: 10,424,798 (GRCm39) |
T115A |
probably benign |
Het |
| Or2d3c |
A |
T |
7: 106,526,627 (GRCm39) |
I13N |
probably benign |
Het |
| Or6n1 |
A |
G |
1: 173,917,122 (GRCm39) |
N172S |
probably damaging |
Het |
| Pnpla7 |
T |
A |
2: 24,940,905 (GRCm39) |
S1086T |
possibly damaging |
Het |
| Pold1 |
C |
T |
7: 44,182,796 (GRCm39) |
|
probably null |
Het |
| Ppfia1 |
A |
G |
7: 144,035,456 (GRCm39) |
F1165L |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,328,804 (GRCm39) |
D426E |
probably benign |
Het |
| Ptgs2 |
G |
A |
1: 149,979,478 (GRCm39) |
R231H |
probably damaging |
Het |
| Rorc |
A |
G |
3: 94,296,094 (GRCm39) |
D91G |
probably damaging |
Het |
| Scaper |
C |
T |
9: 55,819,335 (GRCm39) |
V127M |
possibly damaging |
Het |
| Sema3g |
A |
T |
14: 30,943,684 (GRCm39) |
Y188F |
probably damaging |
Het |
| Slc45a3 |
G |
T |
1: 131,906,725 (GRCm39) |
A400S |
possibly damaging |
Het |
| Slc9b2 |
C |
A |
3: 135,042,156 (GRCm39) |
H478Q |
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,891,452 (GRCm39) |
H1973L |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,750,609 (GRCm39) |
Y359H |
probably damaging |
Het |
| Stx16 |
T |
G |
2: 173,935,813 (GRCm39) |
I248S |
probably damaging |
Het |
| Sytl3 |
A |
G |
17: 7,002,839 (GRCm39) |
R287G |
probably damaging |
Het |
| Tiam1 |
T |
C |
16: 89,609,856 (GRCm39) |
T82A |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,918,637 (GRCm39) |
L659P |
probably damaging |
Het |
| Ttc13 |
G |
A |
8: 125,400,477 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,590,213 (GRCm39) |
|
probably null |
Het |
| Vldlr |
G |
T |
19: 27,221,173 (GRCm39) |
R613L |
probably damaging |
Het |
| Wdr77 |
C |
T |
3: 105,867,002 (GRCm39) |
R35* |
probably null |
Het |
| Zc3h14 |
T |
G |
12: 98,745,445 (GRCm39) |
I478R |
possibly damaging |
Het |
| Zfp366 |
A |
G |
13: 99,364,920 (GRCm39) |
H27R |
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 |
|
|
IGL00508:Micall1
|
APN |
15 |
79,014,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2013-12-09 |
Incidental Mutation