Incidental Mutation 'R0739:Clmn'
| ID |
70637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clmn
|
| Ensembl Gene |
ENSMUSG00000021097 |
| Gene Name |
calmin |
| Synonyms |
9330188N17Rik |
| MMRRC Submission |
038920-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0739 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104729376-104831335 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104747276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 757
(G757D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109936]
[ENSMUST00000109937]
[ENSMUST00000222323]
[ENSMUST00000223103]
[ENSMUST00000223177]
[ENSMUST00000223342]
|
| AlphaFold |
Q8C5W0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109936
AA Change: G757D
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105562
Gene: ENSMUSG00000021097
AA Change: G757D
| 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 |
possibly damaging
Transcript: ENSMUST00000109937
AA Change: G757D
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105563
Gene: ENSMUSG00000021097
AA Change: G757D
| 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 |
possibly damaging
Transcript: ENSMUST00000223103
AA Change: G757D
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223177
AA Change: G757D
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223342
AA Change: G757D
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,227,961 (GRCm39) |
E327G |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,496,260 (GRCm39) |
D593G |
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,816,370 (GRCm39) |
D248G |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,047,428 (GRCm39) |
I743V |
possibly damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,208,456 (GRCm39) |
N396D |
possibly damaging |
Het |
| Cacna1e |
C |
T |
1: 154,318,024 (GRCm39) |
A1391T |
probably damaging |
Het |
| Ccr8 |
G |
A |
9: 119,923,415 (GRCm39) |
G177S |
probably damaging |
Het |
| Cntn2 |
T |
A |
1: 132,456,750 (GRCm39) |
I99F |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,650 (GRCm39) |
A271G |
unknown |
Het |
| Dnah1 |
A |
T |
14: 30,987,872 (GRCm39) |
C3515* |
probably null |
Het |
| Eif2d |
A |
G |
1: 131,082,100 (GRCm39) |
Y64C |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,667,162 (GRCm39) |
F65S |
probably damaging |
Het |
| F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,209,550 (GRCm39) |
E938G |
probably benign |
Het |
| Foxn1 |
T |
C |
11: 78,249,825 (GRCm39) |
T567A |
probably benign |
Het |
| Gabrr1 |
T |
C |
4: 33,162,781 (GRCm39) |
M449T |
probably benign |
Het |
| Gdf2 |
C |
T |
14: 33,663,178 (GRCm39) |
P24L |
probably damaging |
Het |
| Itgb3bp |
T |
C |
4: 99,690,433 (GRCm39) |
I29V |
probably benign |
Het |
| Kcnk7 |
C |
T |
19: 5,754,830 (GRCm39) |
|
probably null |
Het |
| Klf11 |
T |
C |
12: 24,710,247 (GRCm39) |
S432P |
probably damaging |
Het |
| Neo1 |
C |
T |
9: 58,829,160 (GRCm39) |
A580T |
probably benign |
Het |
| Nexmif |
G |
T |
X: 103,128,555 (GRCm39) |
Q1121K |
probably benign |
Het |
| Or51aa5 |
T |
C |
7: 103,166,931 (GRCm39) |
Y220C |
probably damaging |
Het |
| Or51f5 |
T |
C |
7: 102,423,872 (GRCm39) |
I47T |
probably damaging |
Het |
| Or5p62 |
T |
C |
7: 107,771,217 (GRCm39) |
T245A |
probably benign |
Het |
| Osgepl1 |
G |
T |
1: 53,362,354 (GRCm39) |
E399* |
probably null |
Het |
| Parvg |
T |
A |
15: 84,215,222 (GRCm39) |
V197E |
probably damaging |
Het |
| Pcyt2 |
A |
G |
11: 120,502,870 (GRCm39) |
L257P |
probably damaging |
Het |
| Pou3f2 |
T |
C |
4: 22,486,960 (GRCm39) |
D391G |
possibly damaging |
Het |
| Psmd2 |
C |
T |
16: 20,474,079 (GRCm39) |
R261C |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,722,998 (GRCm39) |
F1981L |
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,680,604 (GRCm39) |
I1069F |
probably benign |
Het |
| Rhbdf2 |
A |
T |
11: 116,490,987 (GRCm39) |
L655Q |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,331,063 (GRCm39) |
N317K |
possibly damaging |
Het |
| Serpina3f |
T |
C |
12: 104,184,612 (GRCm39) |
V252A |
probably damaging |
Het |
| Slc22a23 |
C |
T |
13: 34,528,366 (GRCm39) |
G139S |
possibly damaging |
Het |
| Smyd2 |
T |
C |
1: 189,621,059 (GRCm39) |
T220A |
possibly damaging |
Het |
| Snrpb2 |
T |
A |
2: 142,907,281 (GRCm39) |
|
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,102 (GRCm39) |
M37V |
probably benign |
Het |
| Sptan1 |
A |
T |
2: 29,903,530 (GRCm39) |
I1502F |
probably damaging |
Het |
| Srprb |
A |
T |
9: 103,074,794 (GRCm39) |
L116H |
probably damaging |
Het |
| Stradb |
T |
A |
1: 59,016,174 (GRCm39) |
|
probably benign |
Het |
| Tm9sf4 |
C |
A |
2: 153,045,734 (GRCm39) |
F535L |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,821,736 (GRCm39) |
S440T |
possibly damaging |
Het |
| Tpr |
C |
T |
1: 150,283,248 (GRCm39) |
A293V |
possibly damaging |
Het |
| Usp34 |
C |
T |
11: 23,417,243 (GRCm39) |
T2964I |
possibly damaging |
Het |
| Usp35 |
C |
A |
7: 96,960,874 (GRCm39) |
E851* |
probably null |
Het |
| Zc3h14 |
T |
A |
12: 98,723,460 (GRCm39) |
V250D |
probably damaging |
Het |
| Zfp568 |
T |
A |
7: 29,722,746 (GRCm39) |
C564S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGACATGGGACACATGCTCAC -3'
(R):5'- CTCGTCATCACAGCGAGGAAGAAG -3'
Sequencing Primer
(F):5'- ACATGCTCACTGACGCTG -3'
(R):5'- GTCTGTGAAGAAGAAATACCATCC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation