Incidental Mutation 'IGL01530:Clmn'
ID |
89711 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Clmn
|
Ensembl Gene |
ENSMUSG00000021097 |
Gene Name |
calmin |
Synonyms |
9330188N17Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01530
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
104729376-104831335 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 104758115 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 134
(I134F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152070
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109936]
[ENSMUST00000109937]
[ENSMUST00000223103]
[ENSMUST00000223177]
[ENSMUST00000223342]
|
AlphaFold |
Q8C5W0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109936
AA Change: I134F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105562 Gene: ENSMUSG00000021097 AA Change: I134F
Domain | Start | End | E-Value | Type |
CH
|
34 |
137 |
2.29e-19 |
SMART |
low complexity region
|
144 |
168 |
N/A |
INTRINSIC |
CH
|
189 |
286 |
9.9e-15 |
SMART |
low complexity region
|
471 |
482 |
N/A |
INTRINSIC |
low complexity region
|
633 |
650 |
N/A |
INTRINSIC |
low complexity region
|
679 |
691 |
N/A |
INTRINSIC |
low complexity region
|
777 |
801 |
N/A |
INTRINSIC |
low complexity region
|
869 |
887 |
N/A |
INTRINSIC |
low complexity region
|
949 |
965 |
N/A |
INTRINSIC |
transmembrane domain
|
996 |
1013 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109937
AA Change: I134F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105563 Gene: ENSMUSG00000021097 AA Change: I134F
Domain | Start | End | E-Value | Type |
CH
|
34 |
137 |
2.29e-19 |
SMART |
low complexity region
|
144 |
168 |
N/A |
INTRINSIC |
CH
|
189 |
286 |
9.9e-15 |
SMART |
low complexity region
|
471 |
482 |
N/A |
INTRINSIC |
low complexity region
|
633 |
650 |
N/A |
INTRINSIC |
low complexity region
|
679 |
691 |
N/A |
INTRINSIC |
low complexity region
|
777 |
801 |
N/A |
INTRINSIC |
low complexity region
|
869 |
887 |
N/A |
INTRINSIC |
low complexity region
|
949 |
965 |
N/A |
INTRINSIC |
transmembrane domain
|
1027 |
1044 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222412
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223103
AA Change: I134F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223177
AA Change: I134F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223342
AA Change: I134F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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 |
Acin1 |
G |
A |
14: 54,881,443 (GRCm39) |
R1117W |
probably damaging |
Het |
Acox2 |
T |
G |
14: 8,246,363 (GRCm38) |
Y476S |
probably damaging |
Het |
Arl6ip5 |
G |
A |
6: 97,187,785 (GRCm39) |
D2N |
possibly damaging |
Het |
Ces2h |
A |
G |
8: 105,741,116 (GRCm39) |
H36R |
probably benign |
Het |
Cfap44 |
C |
A |
16: 44,269,530 (GRCm39) |
A1178E |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,792,385 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
C |
T |
8: 15,953,195 (GRCm39) |
E3429K |
probably damaging |
Het |
Csmd2 |
A |
G |
4: 128,308,094 (GRCm39) |
D1284G |
possibly damaging |
Het |
Csmd3 |
C |
T |
15: 47,701,833 (GRCm39) |
G1750E |
possibly damaging |
Het |
Csmd3 |
T |
G |
15: 47,533,013 (GRCm39) |
D2516A |
probably damaging |
Het |
Depdc1a |
C |
T |
3: 159,229,560 (GRCm39) |
H631Y |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,174,213 (GRCm39) |
S2167T |
probably benign |
Het |
Flii |
G |
A |
11: 60,611,008 (GRCm39) |
R474* |
probably null |
Het |
Hmcn2 |
A |
C |
2: 31,244,276 (GRCm39) |
D687A |
possibly damaging |
Het |
Hrh4 |
A |
G |
18: 13,149,004 (GRCm39) |
|
probably benign |
Het |
Hsd3b5 |
G |
A |
3: 98,526,439 (GRCm39) |
R336C |
probably damaging |
Het |
Igkv5-39 |
T |
A |
6: 69,877,459 (GRCm39) |
E79V |
probably damaging |
Het |
Iqgap3 |
G |
A |
3: 88,019,610 (GRCm39) |
|
probably null |
Het |
Irak3 |
G |
A |
10: 119,978,699 (GRCm39) |
S492F |
probably benign |
Het |
Kif14 |
T |
A |
1: 136,406,157 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,518,498 (GRCm39) |
I2394V |
probably benign |
Het |
Lama1 |
C |
T |
17: 68,103,785 (GRCm39) |
A2002V |
probably benign |
Het |
Map3k19 |
T |
C |
1: 127,749,841 (GRCm39) |
E1170G |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,711,938 (GRCm39) |
|
probably benign |
Het |
Mpo |
G |
T |
11: 87,692,017 (GRCm39) |
M483I |
probably benign |
Het |
Neu3 |
T |
C |
7: 99,462,953 (GRCm39) |
S257G |
probably benign |
Het |
Nhsl3 |
G |
A |
4: 129,116,589 (GRCm39) |
|
probably null |
Het |
Niban3 |
A |
T |
8: 72,056,561 (GRCm39) |
|
probably benign |
Het |
Nup214 |
A |
G |
2: 31,923,733 (GRCm39) |
T1421A |
probably benign |
Het |
Pbx1 |
T |
C |
1: 168,018,873 (GRCm39) |
N324S |
probably benign |
Het |
Pcbp2 |
T |
C |
15: 102,392,601 (GRCm39) |
S5P |
probably benign |
Het |
Pds5b |
A |
G |
5: 150,715,640 (GRCm39) |
I511V |
probably benign |
Het |
Pdzph1 |
C |
T |
17: 59,229,710 (GRCm39) |
D983N |
probably damaging |
Het |
Phldb2 |
A |
C |
16: 45,623,092 (GRCm39) |
D651E |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,629,643 (GRCm39) |
|
probably null |
Het |
Plxnb1 |
A |
G |
9: 108,939,473 (GRCm39) |
D1406G |
probably benign |
Het |
Rhebl1 |
T |
C |
15: 98,777,367 (GRCm39) |
D65G |
probably damaging |
Het |
Smpdl3a |
A |
G |
10: 57,683,989 (GRCm39) |
H249R |
probably damaging |
Het |
Sorbs1 |
T |
C |
19: 40,365,091 (GRCm39) |
T231A |
probably benign |
Het |
Tmem232 |
G |
A |
17: 65,563,543 (GRCm39) |
Q617* |
probably null |
Het |
Trim62 |
A |
G |
4: 128,778,252 (GRCm39) |
D97G |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,841,636 (GRCm39) |
T328A |
possibly damaging |
Het |
Ugt2b5 |
C |
T |
5: 87,285,104 (GRCm39) |
V278I |
probably benign |
Het |
Usp4 |
T |
C |
9: 108,240,099 (GRCm39) |
|
probably null |
Het |
Vdac3-ps1 |
C |
T |
13: 18,206,091 (GRCm39) |
|
noncoding transcript |
Het |
Wwc2 |
T |
A |
8: 48,316,974 (GRCm39) |
R706S |
unknown |
Het |
Xpot |
A |
C |
10: 121,447,433 (GRCm39) |
I114S |
probably damaging |
Het |
Zfp777 |
T |
A |
6: 48,020,918 (GRCm39) |
S279C |
probably damaging |
Het |
|
Other mutations in Clmn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01132:Clmn
|
APN |
12 |
104,740,810 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01509:Clmn
|
APN |
12 |
104,747,162 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01768:Clmn
|
APN |
12 |
104,747,978 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01779:Clmn
|
APN |
12 |
104,748,399 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02139:Clmn
|
APN |
12 |
104,747,358 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02157:Clmn
|
APN |
12 |
104,748,177 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02519:Clmn
|
APN |
12 |
104,758,112 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02820:Clmn
|
APN |
12 |
104,739,493 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03036:Clmn
|
APN |
12 |
104,740,782 (GRCm39) |
missense |
probably damaging |
0.97 |
R0255:Clmn
|
UTSW |
12 |
104,748,023 (GRCm39) |
missense |
probably benign |
|
R0478:Clmn
|
UTSW |
12 |
104,751,750 (GRCm39) |
missense |
probably damaging |
0.99 |
R0739:Clmn
|
UTSW |
12 |
104,747,276 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0761:Clmn
|
UTSW |
12 |
104,747,817 (GRCm39) |
missense |
probably damaging |
0.99 |
R0834:Clmn
|
UTSW |
12 |
104,738,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R0834:Clmn
|
UTSW |
12 |
104,738,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R0864:Clmn
|
UTSW |
12 |
104,756,274 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1569:Clmn
|
UTSW |
12 |
104,747,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R1638:Clmn
|
UTSW |
12 |
104,748,281 (GRCm39) |
missense |
probably benign |
0.13 |
R1940:Clmn
|
UTSW |
12 |
104,756,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R1974:Clmn
|
UTSW |
12 |
104,758,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R2113:Clmn
|
UTSW |
12 |
104,747,067 (GRCm39) |
missense |
probably benign |
|
R4815:Clmn
|
UTSW |
12 |
104,751,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R4863:Clmn
|
UTSW |
12 |
104,763,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R4883:Clmn
|
UTSW |
12 |
104,748,307 (GRCm39) |
missense |
probably benign |
0.04 |
R5577:Clmn
|
UTSW |
12 |
104,743,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5853:Clmn
|
UTSW |
12 |
104,750,161 (GRCm39) |
splice site |
probably null |
|
R5867:Clmn
|
UTSW |
12 |
104,748,014 (GRCm39) |
missense |
probably damaging |
0.98 |
R6041:Clmn
|
UTSW |
12 |
104,748,131 (GRCm39) |
missense |
probably benign |
0.00 |
R6093:Clmn
|
UTSW |
12 |
104,738,215 (GRCm39) |
missense |
probably benign |
0.00 |
R6233:Clmn
|
UTSW |
12 |
104,751,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R6239:Clmn
|
UTSW |
12 |
104,747,104 (GRCm39) |
missense |
probably benign |
0.00 |
R6628:Clmn
|
UTSW |
12 |
104,740,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R6771:Clmn
|
UTSW |
12 |
104,740,041 (GRCm39) |
missense |
probably benign |
0.04 |
R7448:Clmn
|
UTSW |
12 |
104,751,687 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7633:Clmn
|
UTSW |
12 |
104,748,371 (GRCm39) |
missense |
probably benign |
|
R8901:Clmn
|
UTSW |
12 |
104,747,211 (GRCm39) |
missense |
probably benign |
0.20 |
R8937:Clmn
|
UTSW |
12 |
104,763,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R9654:Clmn
|
UTSW |
12 |
104,748,193 (GRCm39) |
missense |
probably damaging |
0.99 |
X0028:Clmn
|
UTSW |
12 |
104,751,661 (GRCm39) |
missense |
probably benign |
0.11 |
Z1177:Clmn
|
UTSW |
12 |
104,747,635 (GRCm39) |
missense |
probably benign |
0.27 |
|
Posted On |
2013-12-03 |