Incidental Mutation 'R5097:Micall1'
| ID |
388105 |
| 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 |
042686-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5097 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
78993098-79021100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79014078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 658
(T658A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040320]
[ENSMUST00000169604]
[ENSMUST00000187550]
[ENSMUST00000190959]
[ENSMUST00000229031]
|
| AlphaFold |
Q8BGT6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040320
AA Change: T658A
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000042053
Gene: ENSMUSG00000033039
AA Change: T658A
| 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 |
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: 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 |
noncoding transcript
Transcript: ENSMUST00000229113
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229694
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230202
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
A |
5: 89,840,909 (GRCm39) |
V805F |
probably damaging |
Het |
| Adgrb3 |
G |
A |
1: 25,865,165 (GRCm39) |
T226M |
probably damaging |
Het |
| Ak5 |
A |
G |
3: 152,187,270 (GRCm39) |
S406P |
probably damaging |
Het |
| Akt3 |
C |
G |
1: 177,076,254 (GRCm39) |
V12L |
probably benign |
Het |
| Arhgef40 |
A |
C |
14: 52,227,146 (GRCm39) |
S397R |
probably damaging |
Het |
| Atp5f1c |
A |
G |
2: 10,068,323 (GRCm39) |
V144A |
probably benign |
Het |
| Ccser1 |
A |
G |
6: 61,289,144 (GRCm39) |
S436G |
probably benign |
Het |
| Clgn |
G |
T |
8: 84,137,152 (GRCm39) |
V290F |
possibly damaging |
Het |
| Dis3l |
T |
A |
9: 64,226,498 (GRCm39) |
D261V |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,981,435 (GRCm39) |
Y2577F |
probably damaging |
Het |
| Evi5l |
A |
G |
8: 4,243,317 (GRCm39) |
E371G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,201,530 (GRCm39) |
S515P |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,822,329 (GRCm39) |
I6021V |
probably benign |
Het |
| Ftdc1 |
A |
C |
16: 58,434,227 (GRCm39) |
N163K |
probably benign |
Het |
| Gstm5 |
A |
T |
3: 107,803,258 (GRCm39) |
|
probably benign |
Het |
| H2-Oa |
G |
A |
17: 34,312,809 (GRCm39) |
D29N |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Ireb2 |
A |
G |
9: 54,802,668 (GRCm39) |
I434M |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Mitf |
C |
T |
6: 97,973,423 (GRCm39) |
A252V |
possibly damaging |
Het |
| Mpzl1 |
A |
G |
1: 165,433,285 (GRCm39) |
I122T |
probably damaging |
Het |
| Mtus2 |
G |
A |
5: 148,232,392 (GRCm39) |
V146I |
probably damaging |
Het |
| Myh11 |
C |
T |
16: 14,023,770 (GRCm39) |
|
probably null |
Het |
| Myrfl |
A |
G |
10: 116,653,609 (GRCm39) |
I486T |
probably damaging |
Het |
| N4bp2 |
T |
C |
5: 65,974,561 (GRCm39) |
V1477A |
probably damaging |
Het |
| Ndc1 |
T |
A |
4: 107,231,358 (GRCm39) |
S100T |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,857,851 (GRCm38) |
N433K |
probably benign |
Het |
| Noc4l |
C |
T |
5: 110,799,212 (GRCm39) |
S190N |
probably benign |
Het |
| Nprl2 |
A |
G |
9: 107,420,731 (GRCm39) |
E122G |
probably damaging |
Het |
| Or13a19 |
A |
G |
7: 139,903,008 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or1e16 |
G |
C |
11: 73,286,119 (GRCm39) |
S243C |
probably damaging |
Het |
| Or6n2 |
C |
T |
1: 173,897,095 (GRCm39) |
T77I |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,896,594 (GRCm39) |
I324V |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Peg3 |
C |
T |
7: 6,713,026 (GRCm39) |
R732H |
probably damaging |
Het |
| Rfc4 |
A |
G |
16: 22,933,046 (GRCm39) |
I297T |
possibly damaging |
Het |
| Rpl3l |
T |
A |
17: 24,952,435 (GRCm39) |
D218E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sesn2 |
C |
T |
4: 132,224,209 (GRCm39) |
V400I |
probably benign |
Het |
| Syt11 |
C |
T |
3: 88,655,231 (GRCm39) |
V51I |
probably benign |
Het |
| Tas2r115 |
A |
C |
6: 132,714,216 (GRCm39) |
L245R |
probably damaging |
Het |
| Tmem115 |
G |
A |
9: 107,412,059 (GRCm39) |
V128I |
probably benign |
Het |
| Trim47 |
A |
G |
11: 115,997,260 (GRCm39) |
V499A |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,638,256 (GRCm39) |
|
probably null |
Het |
| Zfp143 |
A |
G |
7: 109,687,998 (GRCm39) |
D479G |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,839,878 (GRCm39) |
T91A |
possibly 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 |
|
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 |
|
|
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'- CCATTTGCCGAATGAGTGTGG -3'
(R):5'- GATATGCAGGATCCCTAGGC -3'
Sequencing Primer
(F):5'- GATTCTGTTCTTGCCTGGGCC -3'
(R):5'- TATGCAGGATCCCTAGGCTAAGTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation