Incidental Mutation 'IGL02139:Clmn'
ID |
281451 |
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 # |
IGL02139
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
104729376-104831335 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104747358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 730
(I730V)
|
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: I730V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000105562 Gene: ENSMUSG00000021097 AA Change: I730V
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: I730V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000105563 Gene: ENSMUSG00000021097 AA Change: I730V
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: I730V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223177
AA Change: I730V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223342
AA Change: I730V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3100002H09Rik |
G |
A |
4: 124,504,369 (GRCm39) |
T61M |
unknown |
Het |
Adam34l |
T |
A |
8: 44,078,615 (GRCm39) |
R536S |
probably benign |
Het |
Ambn |
T |
C |
5: 88,613,149 (GRCm39) |
F217L |
probably benign |
Het |
Cast |
T |
C |
13: 74,876,484 (GRCm39) |
D121G |
possibly damaging |
Het |
Cryzl1 |
T |
C |
16: 91,509,139 (GRCm39) |
K54R |
possibly damaging |
Het |
Cyp3a16 |
A |
G |
5: 145,392,290 (GRCm39) |
S222P |
probably benign |
Het |
Dcstamp |
T |
C |
15: 39,617,854 (GRCm39) |
S88P |
probably damaging |
Het |
F5 |
A |
G |
1: 164,020,243 (GRCm39) |
D906G |
possibly damaging |
Het |
Fam193a |
A |
G |
5: 34,602,081 (GRCm39) |
T428A |
probably benign |
Het |
Fbxw16 |
T |
G |
9: 109,265,754 (GRCm39) |
D355A |
probably benign |
Het |
Focad |
T |
C |
4: 88,047,291 (GRCm39) |
|
probably null |
Het |
Ftsj3 |
G |
A |
11: 106,145,489 (GRCm39) |
P82S |
possibly damaging |
Het |
Grwd1 |
A |
T |
7: 45,476,667 (GRCm39) |
H307Q |
probably damaging |
Het |
Hip1r |
T |
C |
5: 124,134,307 (GRCm39) |
F289S |
probably damaging |
Het |
Igkc |
C |
T |
6: 70,703,559 (GRCm39) |
R47* |
probably null |
Het |
Lcn3 |
T |
C |
2: 25,656,646 (GRCm39) |
F100S |
possibly damaging |
Het |
Lmnb1 |
T |
C |
18: 56,882,871 (GRCm39) |
F572S |
probably benign |
Het |
Mrps17 |
T |
A |
5: 129,793,860 (GRCm39) |
I18N |
probably damaging |
Het |
Myo9a |
G |
A |
9: 59,687,275 (GRCm39) |
V127I |
probably benign |
Het |
Or2l13b |
T |
C |
16: 19,349,640 (GRCm39) |
D10G |
probably benign |
Het |
Or4c35 |
T |
C |
2: 89,808,773 (GRCm39) |
V217A |
possibly damaging |
Het |
Or5g23 |
T |
A |
2: 85,438,574 (GRCm39) |
K227* |
probably null |
Het |
Pcdhb21 |
A |
G |
18: 37,648,299 (GRCm39) |
D476G |
probably damaging |
Het |
Pkd2l2 |
T |
A |
18: 34,545,768 (GRCm39) |
Y56* |
probably null |
Het |
Pld1 |
C |
A |
3: 28,174,961 (GRCm39) |
D86E |
probably damaging |
Het |
Plpp1 |
A |
G |
13: 112,993,433 (GRCm39) |
T122A |
probably benign |
Het |
Prkag3 |
A |
G |
1: 74,779,883 (GRCm39) |
I484T |
probably benign |
Het |
Prl7d1 |
T |
A |
13: 27,896,066 (GRCm39) |
I104F |
probably damaging |
Het |
Prr14l |
A |
G |
5: 32,984,876 (GRCm39) |
S1540P |
probably damaging |
Het |
Pyroxd1 |
T |
G |
6: 142,300,457 (GRCm39) |
S196A |
probably benign |
Het |
Rbm42 |
G |
A |
7: 30,345,130 (GRCm39) |
P185S |
unknown |
Het |
Ror2 |
T |
A |
13: 53,265,200 (GRCm39) |
I619F |
probably damaging |
Het |
Slitrk4 |
T |
G |
X: 63,314,555 (GRCm39) |
E704A |
probably benign |
Het |
Sycp1 |
A |
G |
3: 102,772,430 (GRCm39) |
V626A |
probably benign |
Het |
Trmt44 |
T |
A |
5: 35,726,143 (GRCm39) |
K345* |
probably null |
Het |
Ugt1a6b |
T |
A |
1: 88,035,527 (GRCm39) |
|
probably benign |
Het |
Ulk4 |
T |
A |
9: 120,970,897 (GRCm39) |
|
probably null |
Het |
Zfp618 |
G |
T |
4: 63,051,773 (GRCm39) |
K758N |
probably damaging |
Het |
Zfp819 |
G |
T |
7: 43,261,534 (GRCm39) |
|
probably null |
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 |
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 |
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 |
2015-04-16 |