Incidental Mutation 'IGL01509:Clmn'
| ID |
89136 |
| 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 # |
IGL01509
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
104729376-104831335 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104747162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 795
(Q795L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109936]
[ENSMUST00000109937]
[ENSMUST00000222323]
[ENSMUST00000223103]
[ENSMUST00000223177]
[ENSMUST00000223342]
|
| AlphaFold |
Q8C5W0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109936
AA Change: Q795L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000105562
Gene: ENSMUSG00000021097
AA Change: Q795L
| 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 benign
Transcript: ENSMUST00000109937
AA Change: Q795L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000105563
Gene: ENSMUSG00000021097
AA Change: Q795L
| 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 |
probably benign
Transcript: ENSMUST00000222323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222412
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223103
AA Change: Q795L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223177
AA Change: Q795L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223342
AA Change: Q795L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
A |
9: 99,495,819 (GRCm39) |
I85N |
probably benign |
Het |
| Bbof1 |
T |
A |
12: 84,457,859 (GRCm39) |
N41K |
possibly damaging |
Het |
| Cdh10 |
A |
G |
15: 18,986,884 (GRCm39) |
K372E |
possibly damaging |
Het |
| Dnai4 |
G |
A |
4: 102,929,884 (GRCm39) |
P369L |
possibly damaging |
Het |
| Enox1 |
T |
C |
14: 77,936,713 (GRCm39) |
S583P |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,485,382 (GRCm39) |
G4407S |
probably damaging |
Het |
| Ifi206 |
T |
A |
1: 173,313,142 (GRCm39) |
M109L |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,318,711 (GRCm39) |
M455T |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,617,332 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
A |
G |
7: 71,909,017 (GRCm39) |
S99P |
probably benign |
Het |
| Mrgprb2 |
G |
A |
7: 48,202,674 (GRCm39) |
T17M |
possibly damaging |
Het |
| Ogdhl |
T |
A |
14: 32,059,716 (GRCm39) |
M410K |
probably damaging |
Het |
| Pard3b |
A |
T |
1: 62,200,407 (GRCm39) |
R315S |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,117,645 (GRCm39) |
Q625R |
probably benign |
Het |
| Plxna3 |
A |
G |
X: 73,376,039 (GRCm39) |
Q355R |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,069,208 (GRCm39) |
F907I |
possibly damaging |
Het |
| Slc16a4 |
A |
C |
3: 107,218,750 (GRCm39) |
|
probably null |
Het |
| Tasor |
T |
C |
14: 27,181,731 (GRCm39) |
|
probably benign |
Het |
| Vmn1r82 |
A |
T |
7: 12,039,096 (GRCm39) |
H123L |
probably damaging |
Het |
| Vmn2r1 |
T |
C |
3: 64,010,466 (GRCm39) |
I568T |
probably benign |
Het |
| Zfp7 |
G |
A |
15: 76,765,333 (GRCm39) |
V9M |
probably damaging |
Het |
| Zfp759 |
A |
G |
13: 67,287,658 (GRCm39) |
N403S |
probably benign |
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 |
|
|
IGL01530:Clmn
|
APN |
12 |
104,758,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation