Incidental Mutation 'R5710:Micall1'
| ID |
452188 |
| 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 |
044396-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5710 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
78993098-79021100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 79011290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 553
(H553Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040320]
[ENSMUST00000229031]
|
| AlphaFold |
Q8BGT6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040320
AA Change: H553Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042053
Gene: ENSMUSG00000033039
AA Change: H553Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000185944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229004
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229113
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229694
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230202
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230779
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
G |
A |
14: 68,847,357 (GRCm39) |
H713Y |
probably damaging |
Het |
| Adam39 |
A |
T |
8: 41,277,684 (GRCm39) |
Y25F |
probably benign |
Het |
| Ankfn1 |
T |
C |
11: 89,394,751 (GRCm39) |
N278S |
probably benign |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgap18 |
G |
A |
10: 26,736,729 (GRCm39) |
|
probably null |
Het |
| Bcl2a1b |
A |
C |
9: 89,081,732 (GRCm39) |
Q107P |
probably benign |
Het |
| Btbd9 |
A |
G |
17: 30,447,842 (GRCm39) |
S525P |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,482,852 (GRCm39) |
S2093P |
probably benign |
Het |
| Ccnd1 |
T |
C |
7: 144,491,781 (GRCm39) |
D86G |
possibly damaging |
Het |
| Chdh |
C |
A |
14: 29,756,584 (GRCm39) |
Q337K |
probably damaging |
Het |
| Cldn9 |
T |
C |
17: 23,902,421 (GRCm39) |
D68G |
probably damaging |
Het |
| Cpt1b |
T |
A |
15: 89,309,409 (GRCm39) |
K41N |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,405,408 (GRCm39) |
Y274H |
probably benign |
Het |
| Eif2ak3 |
T |
A |
6: 70,860,717 (GRCm39) |
I431N |
probably damaging |
Het |
| Erbb2 |
T |
A |
11: 98,317,906 (GRCm39) |
W416R |
probably damaging |
Het |
| Fgd3 |
T |
A |
13: 49,450,205 (GRCm39) |
I15F |
probably benign |
Het |
| Fkbp14 |
T |
A |
6: 54,566,255 (GRCm39) |
|
probably null |
Het |
| Havcr1 |
T |
C |
11: 46,643,353 (GRCm39) |
V91A |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,751,987 (GRCm39) |
|
probably benign |
Het |
| Lipc |
T |
A |
9: 70,719,979 (GRCm39) |
I343F |
probably benign |
Het |
| Madd |
T |
C |
2: 90,984,821 (GRCm39) |
T1331A |
probably damaging |
Het |
| Mcm5 |
A |
C |
8: 75,847,538 (GRCm39) |
D445A |
probably damaging |
Het |
| Mdga2 |
C |
A |
12: 66,553,556 (GRCm39) |
L98F |
probably damaging |
Het |
| Mxd4 |
A |
G |
5: 34,344,671 (GRCm39) |
|
probably null |
Het |
| Peg10 |
CC |
CCCCATCAGGC |
6: 4,756,350 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
| Prtg |
T |
A |
9: 72,716,922 (GRCm39) |
Y88N |
probably damaging |
Het |
| Saxo1 |
C |
T |
4: 86,363,272 (GRCm39) |
V404I |
possibly damaging |
Het |
| Sclt1 |
C |
A |
3: 41,618,398 (GRCm39) |
E14* |
probably null |
Het |
| Shfl |
G |
T |
9: 20,784,192 (GRCm39) |
R138L |
possibly damaging |
Het |
| Strn |
G |
A |
17: 78,995,028 (GRCm39) |
L162F |
probably damaging |
Het |
| T |
T |
C |
17: 8,660,474 (GRCm39) |
S221P |
probably benign |
Het |
| Tbl1xr1 |
A |
G |
3: 22,264,578 (GRCm39) |
D511G |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,597,674 (GRCm39) |
N82T |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,747,786 (GRCm39) |
R4421H |
possibly damaging |
Het |
| Uaca |
T |
A |
9: 60,779,093 (GRCm39) |
L1158Q |
probably damaging |
Het |
| Vdr |
T |
C |
15: 97,757,008 (GRCm39) |
Y288C |
probably damaging |
Het |
| Vdr |
A |
T |
15: 97,765,089 (GRCm39) |
S217T |
probably benign |
Het |
| Zhx2 |
T |
A |
15: 57,684,866 (GRCm39) |
Y78* |
probably null |
Het |
| Znhit1 |
C |
T |
5: 137,011,456 (GRCm39) |
C119Y |
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 |
|
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 |
|
|
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'- TTGAACAGCTATCCACGCC -3'
(R):5'- CACCTTGATTTGCAGCTGTG -3'
Sequencing Primer
(F):5'- AGCTATCCACGCCTCCCG -3'
(R):5'- GGTCTCCAGCCAACAAGAAGG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation