Incidental Mutation 'IGL02820:Clmn'
| ID |
360950 |
| 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 # |
IGL02820
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
104729376-104831335 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104739493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 979
(Y979N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109936]
[ENSMUST00000109937]
[ENSMUST00000222323]
[ENSMUST00000223103]
[ENSMUST00000223177]
[ENSMUST00000223342]
|
| AlphaFold |
Q8C5W0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109936
|
| SMART Domains |
Protein: ENSMUSP00000105562
Gene: ENSMUSG00000021097
| 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: Y979N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105563
Gene: ENSMUSG00000021097
AA Change: Y979N
| 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 |
probably benign
Transcript: ENSMUST00000223103
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223177
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223342
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624G23Rik |
T |
C |
12: 24,124,417 (GRCm39) |
Y86C |
probably benign |
Het |
| Adgra2 |
G |
A |
8: 27,607,535 (GRCm39) |
V47M |
probably damaging |
Het |
| Anks1b |
T |
C |
10: 89,912,921 (GRCm39) |
C349R |
possibly damaging |
Het |
| Anks4b |
A |
T |
7: 119,781,914 (GRCm39) |
|
probably benign |
Het |
| Apobec2 |
A |
G |
17: 48,730,295 (GRCm39) |
S124P |
probably damaging |
Het |
| Brd8 |
G |
A |
18: 34,740,354 (GRCm39) |
S493L |
probably benign |
Het |
| Cbln3 |
A |
G |
14: 56,120,944 (GRCm39) |
Y126H |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,364,721 (GRCm39) |
|
probably benign |
Het |
| Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
| Ceacam2 |
T |
A |
7: 25,219,411 (GRCm39) |
H283L |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,392,699 (GRCm39) |
|
probably benign |
Het |
| Clasp1 |
A |
G |
1: 118,478,834 (GRCm39) |
D718G |
possibly damaging |
Het |
| Ddias |
T |
C |
7: 92,508,551 (GRCm39) |
T455A |
probably benign |
Het |
| Dennd5b |
T |
C |
6: 148,920,840 (GRCm39) |
R851G |
probably null |
Het |
| Dock1 |
T |
C |
7: 134,768,944 (GRCm39) |
V1771A |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,077,187 (GRCm39) |
L694Q |
probably damaging |
Het |
| Faim2 |
T |
C |
15: 99,419,138 (GRCm39) |
Y77C |
probably benign |
Het |
| Fbxw22 |
A |
T |
9: 109,215,732 (GRCm39) |
I172N |
probably damaging |
Het |
| Fhad1 |
C |
T |
4: 141,646,069 (GRCm39) |
D298N |
probably benign |
Het |
| Fyb1 |
T |
G |
15: 6,688,040 (GRCm39) |
V800G |
possibly damaging |
Het |
| Gcm1 |
T |
C |
9: 77,971,844 (GRCm39) |
F262L |
probably benign |
Het |
| Gm21983 |
T |
C |
7: 26,879,605 (GRCm39) |
M121V |
probably benign |
Het |
| Gm9996 |
A |
T |
10: 29,019,657 (GRCm39) |
|
probably benign |
Het |
| Gstm3 |
A |
T |
3: 107,876,074 (GRCm39) |
|
probably benign |
Het |
| Gsto2 |
G |
T |
19: 47,863,398 (GRCm39) |
E91D |
probably damaging |
Het |
| Hs6st3 |
G |
T |
14: 119,376,492 (GRCm39) |
M222I |
possibly damaging |
Het |
| Ighv3-6 |
T |
C |
12: 114,251,850 (GRCm39) |
D90G |
probably damaging |
Het |
| Itgb1bp1 |
C |
T |
12: 21,326,854 (GRCm39) |
A40T |
possibly damaging |
Het |
| Kcns3 |
C |
T |
12: 11,141,872 (GRCm39) |
E276K |
probably benign |
Het |
| Lamc3 |
C |
T |
2: 31,813,034 (GRCm39) |
R1007C |
probably damaging |
Het |
| Lnx2 |
A |
T |
5: 146,978,877 (GRCm39) |
M125K |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,812,643 (GRCm39) |
N1018K |
probably benign |
Het |
| Mctp2 |
T |
A |
7: 71,895,290 (GRCm39) |
S186C |
probably damaging |
Het |
| Or1j20 |
A |
T |
2: 36,759,871 (GRCm39) |
T98S |
probably benign |
Het |
| Polg |
T |
C |
7: 79,109,519 (GRCm39) |
T433A |
possibly damaging |
Het |
| Rdh13 |
C |
T |
7: 4,438,059 (GRCm39) |
V127M |
probably damaging |
Het |
| Rdh16 |
A |
G |
10: 127,649,470 (GRCm39) |
T309A |
probably benign |
Het |
| Reep5 |
A |
T |
18: 34,506,312 (GRCm39) |
D21E |
probably benign |
Het |
| Rptn |
A |
T |
3: 93,304,227 (GRCm39) |
N520I |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,047,122 (GRCm39) |
L928P |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,254,273 (GRCm39) |
I212V |
probably benign |
Het |
| Snupn |
A |
G |
9: 56,870,332 (GRCm39) |
T71A |
probably benign |
Het |
| Ssu2 |
T |
C |
6: 112,359,353 (GRCm39) |
N89S |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,321,071 (GRCm39) |
S1535P |
probably damaging |
Het |
| Tmt1a |
C |
A |
15: 100,202,933 (GRCm39) |
S51* |
probably null |
Het |
| Uba7 |
A |
T |
9: 107,858,715 (GRCm39) |
S849C |
probably benign |
Het |
| Vmn2r80 |
A |
G |
10: 79,007,439 (GRCm39) |
T472A |
probably benign |
Het |
| Wdr6 |
A |
G |
9: 108,455,743 (GRCm39) |
I17T |
probably benign |
Het |
| Xkr9 |
G |
A |
1: 13,771,173 (GRCm39) |
V230I |
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 |
|
|
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation