Incidental Mutation 'R0761:Clmn'
| ID |
70100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clmn
|
| Ensembl Gene |
ENSMUSG00000021097 |
| Gene Name |
calmin |
| Synonyms |
9330188N17Rik |
| MMRRC Submission |
038941-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0761 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
104729376-104831335 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104747817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 577
(N577Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109936]
[ENSMUST00000109937]
[ENSMUST00000222323]
[ENSMUST00000223103]
[ENSMUST00000223177]
[ENSMUST00000223342]
|
| AlphaFold |
Q8C5W0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109936
AA Change: N577Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105562
Gene: ENSMUSG00000021097
AA Change: N577Y
| 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: N577Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105563
Gene: ENSMUSG00000021097
AA Change: N577Y
| 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 damaging
Transcript: ENSMUST00000223103
AA Change: N577Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223177
AA Change: N577Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223342
AA Change: N577Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.1566 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.7%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,833 (GRCm39) |
Y133C |
probably benign |
Het |
| Adcy5 |
G |
A |
16: 35,091,195 (GRCm39) |
|
probably benign |
Het |
| Asb17 |
A |
G |
3: 153,550,052 (GRCm39) |
K28R |
probably damaging |
Het |
| Bbs10 |
G |
T |
10: 111,135,244 (GRCm39) |
C119F |
probably damaging |
Het |
| Camk2g |
G |
A |
14: 20,816,280 (GRCm39) |
Q119* |
probably null |
Het |
| Cdh18 |
A |
T |
15: 23,226,838 (GRCm39) |
I46L |
possibly damaging |
Het |
| Cimip2a |
T |
C |
2: 25,110,135 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crocc |
T |
C |
4: 140,774,387 (GRCm39) |
E63G |
probably benign |
Het |
| Crocc |
T |
C |
4: 140,757,087 (GRCm39) |
T965A |
probably benign |
Het |
| Cryzl2 |
A |
G |
1: 157,293,294 (GRCm39) |
I132V |
probably benign |
Het |
| Csgalnact2 |
T |
C |
6: 118,103,073 (GRCm39) |
|
probably benign |
Het |
| Ctr9 |
T |
C |
7: 110,645,479 (GRCm39) |
S569P |
probably damaging |
Het |
| Cul3 |
A |
G |
1: 80,255,203 (GRCm39) |
|
probably benign |
Het |
| Dcp2 |
G |
A |
18: 44,543,300 (GRCm39) |
S286N |
probably benign |
Het |
| Dgkz |
C |
T |
2: 91,775,696 (GRCm39) |
R189H |
probably benign |
Het |
| Dst |
A |
G |
1: 34,221,848 (GRCm39) |
T2551A |
probably benign |
Het |
| Kcna4 |
T |
A |
2: 107,126,417 (GRCm39) |
S384T |
probably benign |
Het |
| Klhl17 |
T |
C |
4: 156,317,204 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
C |
A |
5: 23,708,032 (GRCm39) |
S1865* |
probably null |
Het |
| L3mbtl1 |
G |
A |
2: 162,807,967 (GRCm39) |
R534H |
probably damaging |
Het |
| Lmnb2 |
A |
T |
10: 80,742,088 (GRCm39) |
M1K |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,075,947 (GRCm39) |
D1784G |
probably damaging |
Het |
| Lrrc34 |
A |
G |
3: 30,685,425 (GRCm39) |
|
probably null |
Het |
| Megf10 |
C |
A |
18: 57,421,048 (GRCm39) |
Y895* |
probably null |
Het |
| Mesd |
G |
T |
7: 83,544,951 (GRCm39) |
A143S |
probably damaging |
Het |
| Mfap3l |
G |
T |
8: 61,124,615 (GRCm39) |
V286L |
possibly damaging |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,542,489 (GRCm39) |
D717E |
probably benign |
Het |
| Nudt12 |
A |
T |
17: 59,318,064 (GRCm39) |
D60E |
probably benign |
Het |
| Nup205 |
C |
T |
6: 35,173,363 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or2j3 |
A |
T |
17: 38,616,282 (GRCm39) |
H23Q |
probably benign |
Het |
| Or4a75 |
T |
C |
2: 89,448,179 (GRCm39) |
D119G |
probably damaging |
Het |
| Or5w19 |
C |
T |
2: 87,698,880 (GRCm39) |
P182S |
possibly damaging |
Het |
| Pacs2 |
T |
A |
12: 113,023,688 (GRCm39) |
|
probably benign |
Het |
| Pcdha9 |
T |
A |
18: 37,133,016 (GRCm39) |
L695* |
probably null |
Het |
| Pira12 |
A |
T |
7: 3,896,978 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
A |
G |
11: 8,804,375 (GRCm39) |
S1739P |
probably damaging |
Het |
| Polr1e |
C |
A |
4: 45,027,392 (GRCm39) |
D207E |
probably damaging |
Het |
| Polr3f |
T |
A |
2: 144,376,327 (GRCm39) |
V142E |
probably damaging |
Het |
| Psma6 |
T |
A |
12: 55,459,127 (GRCm39) |
W170R |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,750,191 (GRCm39) |
Y3114H |
probably benign |
Het |
| Rps6ka5 |
C |
T |
12: 100,537,141 (GRCm39) |
A530T |
probably damaging |
Het |
| Simc1 |
T |
C |
13: 54,674,387 (GRCm39) |
Y912H |
probably damaging |
Het |
| Tnfrsf1b |
T |
C |
4: 144,942,670 (GRCm39) |
D371G |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,195,681 (GRCm39) |
V1235A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,577,102 (GRCm39) |
E24597G |
probably damaging |
Het |
| Ubr2 |
G |
A |
17: 47,294,242 (GRCm39) |
P297L |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,186,560 (GRCm39) |
|
probably null |
Het |
| Xpo4 |
A |
G |
14: 57,850,840 (GRCm39) |
F355L |
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 |
|
R0739:Clmn
|
UTSW |
12 |
104,747,276 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
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'- AGCTTCTTGGGCTCCAATCTGGAC -3'
(R):5'- AGGATGCCTCGTGTAGTAAGGACC -3'
Sequencing Primer
(F):5'- CTCCAATCTGGACTCGGC -3'
(R):5'- CGTGTAGTAAGGACCCTTTCTATAGC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation