Incidental Mutation 'R0099:Micall1'
| ID |
33170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Micall1
|
| Ensembl Gene |
ENSMUSG00000033039 |
| Gene Name |
microtubule associated monooxygenase, calponin and LIM domain containing -like 1 |
| Synonyms |
Mus EST 820961, D15Mit260, D15N2e |
| MMRRC Submission |
038385-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R0099 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
(trace)
|
| Chromosome |
15 |
| Chromosomal Location |
78993098-79021100 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 79016101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154886
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040320]
[ENSMUST00000169604]
[ENSMUST00000187550]
[ENSMUST00000188562]
[ENSMUST00000189761]
[ENSMUST00000229031]
[ENSMUST00000190730]
[ENSMUST00000190959]
[ENSMUST00000190509]
|
| AlphaFold |
Q8BGT6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040320
|
| SMART Domains |
Protein: ENSMUSP00000042053
Gene: ENSMUSG00000033039
| 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: ENSMUST00000229031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230202
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229694
|
| 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: 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: ENSMUST00000190509
|
| SMART Domains |
Protein: ENSMUSP00000140611
Gene: ENSMUSG00000033029
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0193
|
33 |
195 |
4.4e-46 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930018M24Rik |
C |
T |
14: 51,134,179 (GRCm39) |
|
probably benign |
Het |
| Aadacl2fm1 |
A |
C |
3: 59,843,856 (GRCm39) |
K183N |
probably benign |
Het |
| Acad10 |
A |
C |
5: 121,759,353 (GRCm39) |
D1043E |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,591,449 (GRCm39) |
G173R |
probably benign |
Het |
| Astn1 |
G |
T |
1: 158,329,721 (GRCm39) |
S192I |
probably damaging |
Het |
| Atg2a |
T |
A |
19: 6,302,819 (GRCm39) |
V1010E |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,268,648 (GRCm39) |
E311G |
probably damaging |
Het |
| Col4a3 |
A |
C |
1: 82,695,714 (GRCm39) |
E1638A |
probably benign |
Het |
| Cstf2t |
A |
G |
19: 31,061,231 (GRCm39) |
R256G |
probably benign |
Het |
| Cyp4a12a |
T |
C |
4: 115,183,869 (GRCm39) |
L225P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,240,080 (GRCm39) |
R479H |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,673,079 (GRCm39) |
I917V |
probably benign |
Het |
| Fam76a |
G |
T |
4: 132,638,098 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,762,776 (GRCm39) |
|
probably null |
Het |
| Gli1 |
A |
G |
10: 127,171,875 (GRCm39) |
V293A |
probably damaging |
Het |
| Gm10782 |
T |
A |
13: 56,510,956 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
A |
G |
18: 10,509,158 (GRCm39) |
E490G |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,316,193 (GRCm39) |
G4362R |
probably damaging |
Het |
| Ica1 |
A |
T |
6: 8,749,778 (GRCm39) |
|
probably benign |
Het |
| Ikzf4 |
T |
A |
10: 128,470,066 (GRCm39) |
I485F |
probably damaging |
Het |
| Irf5 |
A |
G |
6: 29,533,966 (GRCm39) |
T34A |
probably damaging |
Het |
| Krt81 |
A |
T |
15: 101,361,402 (GRCm39) |
C59* |
probably null |
Het |
| Kynu |
T |
A |
2: 43,519,065 (GRCm39) |
|
probably null |
Het |
| Ly6g6c |
T |
C |
17: 35,287,891 (GRCm39) |
V61A |
probably damaging |
Het |
| Manea |
A |
C |
4: 26,328,104 (GRCm39) |
I312M |
probably damaging |
Het |
| Mthfs |
A |
T |
9: 89,108,216 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,150,173 (GRCm39) |
T1877A |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,250,409 (GRCm39) |
I92T |
probably benign |
Het |
| Nepn |
A |
G |
10: 52,277,181 (GRCm39) |
S306G |
probably damaging |
Het |
| Nol8 |
T |
C |
13: 49,826,165 (GRCm39) |
V995A |
probably benign |
Het |
| Or5b101 |
A |
G |
19: 13,005,165 (GRCm39) |
F176S |
probably damaging |
Het |
| Or5b105 |
T |
A |
19: 13,080,504 (GRCm39) |
T49S |
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,622,750 (GRCm39) |
V275E |
probably damaging |
Het |
| Or8g4 |
A |
G |
9: 39,661,957 (GRCm39) |
I92V |
possibly damaging |
Het |
| Pde1a |
T |
A |
2: 79,698,657 (GRCm39) |
|
probably null |
Het |
| Phf14 |
A |
G |
6: 11,987,696 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
C |
T |
17: 84,899,100 (GRCm39) |
Q1026* |
probably null |
Het |
| Polr2b |
T |
A |
5: 77,468,797 (GRCm39) |
|
probably benign |
Het |
| Ppp1r36 |
G |
T |
12: 76,483,056 (GRCm39) |
|
probably null |
Het |
| Prdm14 |
A |
T |
1: 13,189,169 (GRCm39) |
C392S |
probably damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,509,686 (GRCm39) |
S436P |
possibly damaging |
Het |
| Rfc2 |
A |
T |
5: 134,624,135 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
A |
T |
10: 84,730,168 (GRCm39) |
M437L |
probably benign |
Het |
| Rgs17 |
T |
A |
10: 5,792,583 (GRCm39) |
R74S |
probably benign |
Het |
| Rnf139 |
C |
A |
15: 58,771,264 (GRCm39) |
L430I |
probably damaging |
Het |
| Sgsm1 |
C |
A |
5: 113,422,226 (GRCm39) |
|
probably benign |
Het |
| Skint6 |
T |
A |
4: 112,668,698 (GRCm39) |
T1126S |
possibly damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,573,398 (GRCm39) |
E602G |
probably damaging |
Het |
| Stpg2 |
T |
C |
3: 138,948,954 (GRCm39) |
|
probably benign |
Het |
| Sycp2l |
T |
C |
13: 41,283,001 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
A |
T |
14: 50,598,275 (GRCm39) |
N87I |
probably benign |
Het |
| Tril |
A |
G |
6: 53,795,348 (GRCm39) |
F625L |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,812,062 (GRCm39) |
V434E |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,313,111 (GRCm39) |
G533R |
probably damaging |
Het |
| Utp25 |
A |
G |
1: 192,810,778 (GRCm39) |
L75P |
probably damaging |
Het |
| Zfp93 |
G |
T |
7: 23,974,900 (GRCm39) |
R295L |
probably benign |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCAGTGTGACTAGAGCAGTATG -3'
(R):5'- CAACCTTCCATTTCAGGCTGCAAAC -3'
Sequencing Primer
(F):5'- GTGCTGATGCAGGAACTCAT -3'
(R):5'- TTCAGGCTGCAAACCCAGG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation