Incidental Mutation 'R6093:Clmn'
| ID |
486060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clmn
|
| Ensembl Gene |
ENSMUSG00000021097 |
| Gene Name |
calmin |
| Synonyms |
9330188N17Rik |
| MMRRC Submission |
044250-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6093 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104729376-104831335 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104738215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 968
(T968A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105562
(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: T968A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105562
Gene: ENSMUSG00000021097
AA Change: T968A
| 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: T999A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105563
Gene: ENSMUSG00000021097
AA Change: T999A
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,490,214 (GRCm39) |
|
probably benign |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adgrl3 |
A |
C |
5: 81,794,369 (GRCm39) |
R531S |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,590,517 (GRCm39) |
D1252G |
probably benign |
Het |
| Ano1 |
T |
C |
7: 144,165,114 (GRCm39) |
N648S |
possibly damaging |
Het |
| Antxr2 |
C |
A |
5: 98,178,319 (GRCm39) |
L30F |
probably damaging |
Het |
| Apol9a |
T |
A |
15: 77,288,620 (GRCm39) |
N249I |
probably benign |
Het |
| Atp2a1 |
A |
G |
7: 126,046,093 (GRCm39) |
V977A |
probably damaging |
Het |
| Clstn2 |
A |
T |
9: 97,340,263 (GRCm39) |
I703N |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,475,522 (GRCm39) |
T1051A |
probably benign |
Het |
| Csde1 |
A |
G |
3: 102,960,218 (GRCm39) |
Y615C |
probably damaging |
Het |
| Dcaf17 |
A |
G |
2: 70,912,356 (GRCm39) |
K314E |
possibly damaging |
Het |
| Dnah10 |
A |
T |
5: 124,830,238 (GRCm39) |
I711F |
probably benign |
Het |
| Duox1 |
G |
T |
2: 122,177,755 (GRCm39) |
R1513L |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,283,917 (GRCm39) |
T333A |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 53,004,880 (GRCm39) |
D658G |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,428,947 (GRCm39) |
L395Q |
probably damaging |
Het |
| Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Greb1 |
C |
T |
12: 16,734,487 (GRCm39) |
C1501Y |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,765,471 (GRCm39) |
V1533A |
probably damaging |
Het |
| Kcnc3 |
A |
C |
7: 44,240,932 (GRCm39) |
D208A |
probably benign |
Het |
| Kctd14 |
A |
G |
7: 97,104,160 (GRCm39) |
|
probably benign |
Het |
| Mcm5 |
C |
A |
8: 75,836,374 (GRCm39) |
D13E |
probably benign |
Het |
| Med23 |
A |
G |
10: 24,754,341 (GRCm39) |
I221V |
probably benign |
Het |
| Msantd5f6 |
T |
C |
4: 73,320,258 (GRCm39) |
I174V |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,776,535 (GRCm39) |
F64L |
probably damaging |
Het |
| Ncapd3 |
T |
G |
9: 26,967,454 (GRCm39) |
S597A |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,141,782 (GRCm39) |
Y72* |
probably null |
Het |
| Nrip1 |
C |
T |
16: 76,091,652 (GRCm39) |
|
probably benign |
Het |
| Or5h26 |
T |
A |
16: 58,988,330 (GRCm39) |
M59L |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,668,958 (GRCm39) |
D328E |
probably damaging |
Het |
| Phyh |
G |
T |
2: 4,923,896 (GRCm39) |
A6S |
possibly damaging |
Het |
| Pole |
A |
T |
5: 110,459,956 (GRCm39) |
Q1120L |
probably benign |
Het |
| Rbmxl1 |
T |
C |
8: 79,232,572 (GRCm39) |
Y257C |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,759,449 (GRCm39) |
H69Q |
possibly damaging |
Het |
| Tmem167b |
A |
T |
3: 108,469,439 (GRCm39) |
M1K |
probably null |
Het |
| Tmod4 |
A |
T |
3: 95,032,929 (GRCm39) |
T22S |
probably benign |
Het |
| Triml1 |
T |
C |
8: 43,593,755 (GRCm39) |
I149M |
probably benign |
Het |
| Vmn2r108 |
T |
C |
17: 20,701,402 (GRCm39) |
T33A |
probably benign |
Het |
| Vmn2r76 |
T |
A |
7: 85,877,469 (GRCm39) |
R525* |
probably null |
Het |
| Zfp109 |
A |
T |
7: 23,928,558 (GRCm39) |
W292R |
probably benign |
Het |
| Zfp292 |
C |
T |
4: 34,811,902 (GRCm39) |
A381T |
probably damaging |
Het |
| Zfp791 |
C |
T |
8: 85,840,135 (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 |
|
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 |
|
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'- ACATGTTTCAGAGCCGGCTG -3'
(R):5'- CCCAATGACTGTCACTGTGG -3'
Sequencing Primer
(F):5'- TTCAGAGCCGGCTGACATCAAG -3'
(R):5'- CCAATGACTGTCACTGTGGTCATTTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation