Incidental Mutation 'R5182:Clca3b'
| ID |
397597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca3b
|
| Ensembl Gene |
ENSMUSG00000037033 |
| Gene Name |
chloride channel accessory 3B |
| Synonyms |
Clca4 |
| MMRRC Submission |
042853-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R5182 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
144528384-144555063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144533776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 533
(I533T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159989]
|
| AlphaFold |
E9PUL3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159989
AA Change: I533T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: I533T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
VWA
|
306 |
481 |
6.22e-19 |
SMART |
|
FN3
|
762 |
861 |
4.93e0 |
SMART |
|
low complexity region
|
880 |
1025 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
A |
G |
19: 21,608,129 (GRCm39) |
M1T |
probably null |
Het |
| Abcg8 |
T |
C |
17: 85,000,172 (GRCm39) |
L243P |
probably damaging |
Het |
| Ankrd27 |
A |
G |
7: 35,327,912 (GRCm39) |
T811A |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,503,919 (GRCm39) |
N188S |
probably null |
Het |
| Bak1 |
G |
A |
17: 27,241,722 (GRCm39) |
P65L |
possibly damaging |
Het |
| Cep350 |
A |
C |
1: 155,733,854 (GRCm39) |
L3013R |
probably damaging |
Het |
| Col6a5 |
C |
A |
9: 105,734,531 (GRCm39) |
E2637* |
probably null |
Het |
| Coq5 |
G |
A |
5: 115,417,815 (GRCm39) |
R15H |
probably benign |
Het |
| Dnah5 |
T |
G |
15: 28,311,424 (GRCm39) |
I1801S |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Dpf3 |
T |
C |
12: 83,417,370 (GRCm39) |
E34G |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,218,167 (GRCm39) |
Q1536K |
probably benign |
Het |
| Eeig2 |
T |
C |
3: 108,892,667 (GRCm39) |
K173E |
possibly damaging |
Het |
| Eng |
T |
C |
2: 32,562,971 (GRCm39) |
|
probably null |
Het |
| Fignl1 |
A |
T |
11: 11,751,717 (GRCm39) |
I446N |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,784,032 (GRCm39) |
C845* |
probably null |
Het |
| Gfm2 |
T |
C |
13: 97,299,401 (GRCm39) |
V347A |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,168,053 (GRCm39) |
|
probably null |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Gsdmc4 |
C |
A |
15: 63,765,653 (GRCm39) |
V299F |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,450 (GRCm39) |
R3229S |
unknown |
Het |
| Icam5 |
A |
G |
9: 20,946,106 (GRCm39) |
T313A |
probably benign |
Het |
| Ift172 |
T |
A |
5: 31,424,958 (GRCm39) |
D668V |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,365,066 (GRCm39) |
C322* |
probably null |
Het |
| Klk6 |
A |
G |
7: 43,478,084 (GRCm39) |
K152R |
probably benign |
Het |
| Man1a2 |
A |
C |
3: 100,554,333 (GRCm39) |
I250S |
probably damaging |
Het |
| Nkpd1 |
A |
G |
7: 19,257,181 (GRCm39) |
Y170C |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,629,801 (GRCm39) |
|
probably null |
Het |
| Or2y3 |
A |
G |
17: 38,393,005 (GRCm39) |
M288T |
probably benign |
Het |
| Or51f1 |
A |
T |
7: 102,506,176 (GRCm39) |
D104E |
probably benign |
Het |
| Pax4 |
C |
T |
6: 28,444,368 (GRCm39) |
E229K |
probably benign |
Het |
| Pdc |
T |
C |
1: 150,209,105 (GRCm39) |
I196T |
possibly damaging |
Het |
| Pld1 |
T |
C |
3: 28,099,230 (GRCm39) |
I299T |
probably damaging |
Het |
| Pnma1 |
T |
C |
12: 84,193,819 (GRCm39) |
I295V |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,172,568 (GRCm39) |
Y49F |
probably benign |
Het |
| Psmd12 |
T |
C |
11: 107,370,485 (GRCm39) |
L28P |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,154,174 (GRCm38) |
T632A |
probably benign |
Het |
| Rab43 |
A |
G |
6: 87,771,637 (GRCm39) |
*118R |
probably null |
Het |
| Rabep1 |
C |
T |
11: 70,795,454 (GRCm39) |
R227* |
probably null |
Het |
| Rad51c |
T |
G |
11: 87,288,545 (GRCm39) |
I213L |
possibly damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,169,287 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,585,495 (GRCm39) |
E2735G |
probably damaging |
Het |
| Sdc3 |
A |
G |
4: 130,548,995 (GRCm39) |
|
probably benign |
Het |
| Sirpa |
G |
A |
2: 129,457,652 (GRCm39) |
R242H |
possibly damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,671,238 (GRCm39) |
T983M |
probably damaging |
Het |
| Snx7 |
A |
G |
3: 117,626,506 (GRCm39) |
Y252H |
probably damaging |
Het |
| St18 |
C |
T |
1: 6,887,877 (GRCm39) |
T482I |
probably benign |
Het |
| St7 |
A |
G |
6: 17,846,236 (GRCm39) |
Y163C |
probably damaging |
Het |
| Tas2r140 |
A |
T |
6: 40,468,866 (GRCm39) |
Q232L |
probably benign |
Het |
| Tgm6 |
A |
T |
2: 129,983,222 (GRCm39) |
K270N |
probably damaging |
Het |
| Tiam2 |
G |
A |
17: 3,488,996 (GRCm39) |
G768D |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,700,773 (GRCm39) |
|
probably benign |
Het |
| Ube4b |
A |
C |
4: 149,465,699 (GRCm39) |
S250R |
probably null |
Het |
| Ubxn2a |
G |
A |
12: 4,930,634 (GRCm39) |
A242V |
probably damaging |
Het |
| Usp10 |
G |
A |
8: 120,683,420 (GRCm39) |
V764I |
possibly damaging |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,667 (GRCm39) |
L182P |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,632 (GRCm39) |
V616A |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,672,863 (GRCm39) |
V1303A |
possibly damaging |
Het |
| Wnk2 |
G |
T |
13: 49,214,637 (GRCm39) |
T1315K |
possibly damaging |
Het |
| Zfp936 |
G |
A |
7: 42,839,331 (GRCm39) |
C266Y |
probably damaging |
Het |
| Zscan20 |
G |
T |
4: 128,480,504 (GRCm39) |
N662K |
possibly damaging |
Het |
|
| Other mutations in Clca3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Clca3b
|
APN |
3 |
144,542,393 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00425:Clca3b
|
APN |
3 |
144,542,342 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL00725:Clca3b
|
APN |
3 |
144,544,923 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00898:Clca3b
|
APN |
3 |
144,550,389 (GRCm39) |
splice site |
probably benign |
|
|
IGL00953:Clca3b
|
APN |
3 |
144,552,972 (GRCm39) |
nonsense |
probably null |
|
|
IGL01089:Clca3b
|
APN |
3 |
144,529,283 (GRCm39) |
missense |
probably benign |
|
|
IGL01376:Clca3b
|
APN |
3 |
144,531,812 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01996:Clca3b
|
APN |
3 |
144,554,924 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02022:Clca3b
|
APN |
3 |
144,547,171 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02200:Clca3b
|
APN |
3 |
144,547,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02314:Clca3b
|
APN |
3 |
144,533,903 (GRCm39) |
splice site |
probably benign |
|
|
IGL02331:Clca3b
|
APN |
3 |
144,547,167 (GRCm39) |
splice site |
probably benign |
|
|
IGL02429:Clca3b
|
APN |
3 |
144,533,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02868:Clca3b
|
APN |
3 |
144,533,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03095:Clca3b
|
APN |
3 |
144,552,671 (GRCm39) |
nonsense |
probably null |
|
|
IGL03331:Clca3b
|
APN |
3 |
144,533,724 (GRCm39) |
missense |
probably benign |
|
|
R0242:Clca3b
|
UTSW |
3 |
144,547,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0242:Clca3b
|
UTSW |
3 |
144,547,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0506:Clca3b
|
UTSW |
3 |
144,528,627 (GRCm39) |
unclassified |
probably benign |
|
|
R0524:Clca3b
|
UTSW |
3 |
144,531,082 (GRCm39) |
missense |
probably benign |
|
|
R0637:Clca3b
|
UTSW |
3 |
144,533,701 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1577:Clca3b
|
UTSW |
3 |
144,529,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1641:Clca3b
|
UTSW |
3 |
144,529,274 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1680:Clca3b
|
UTSW |
3 |
144,543,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2240:Clca3b
|
UTSW |
3 |
144,531,696 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2248:Clca3b
|
UTSW |
3 |
144,530,980 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2259:Clca3b
|
UTSW |
3 |
144,552,142 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2920:Clca3b
|
UTSW |
3 |
144,552,692 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2920:Clca3b
|
UTSW |
3 |
144,543,614 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4355:Clca3b
|
UTSW |
3 |
144,531,219 (GRCm39) |
splice site |
probably null |
|
|
R4691:Clca3b
|
UTSW |
3 |
144,544,853 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4828:Clca3b
|
UTSW |
3 |
144,550,273 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4845:Clca3b
|
UTSW |
3 |
144,531,031 (GRCm39) |
missense |
probably benign |
|
|
R5396:Clca3b
|
UTSW |
3 |
144,552,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5429:Clca3b
|
UTSW |
3 |
144,552,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5572:Clca3b
|
UTSW |
3 |
144,533,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5657:Clca3b
|
UTSW |
3 |
144,533,144 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5845:Clca3b
|
UTSW |
3 |
144,531,077 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6505:Clca3b
|
UTSW |
3 |
144,531,020 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6677:Clca3b
|
UTSW |
3 |
144,529,145 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6707:Clca3b
|
UTSW |
3 |
144,550,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7001:Clca3b
|
UTSW |
3 |
144,533,733 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7285:Clca3b
|
UTSW |
3 |
144,543,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7323:Clca3b
|
UTSW |
3 |
144,531,681 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7324:Clca3b
|
UTSW |
3 |
144,547,181 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7334:Clca3b
|
UTSW |
3 |
144,542,417 (GRCm39) |
nonsense |
probably null |
|
|
R7403:Clca3b
|
UTSW |
3 |
144,529,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7798:Clca3b
|
UTSW |
3 |
144,533,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8008:Clca3b
|
UTSW |
3 |
144,550,370 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8132:Clca3b
|
UTSW |
3 |
144,552,935 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8181:Clca3b
|
UTSW |
3 |
144,544,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8305:Clca3b
|
UTSW |
3 |
144,531,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8546:Clca3b
|
UTSW |
3 |
144,533,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8716:Clca3b
|
UTSW |
3 |
144,550,355 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8804:Clca3b
|
UTSW |
3 |
144,544,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8966:Clca3b
|
UTSW |
3 |
144,544,872 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9003:Clca3b
|
UTSW |
3 |
144,533,072 (GRCm39) |
nonsense |
probably null |
|
|
R9455:Clca3b
|
UTSW |
3 |
144,529,023 (GRCm39) |
missense |
unknown |
|
|
R9470:Clca3b
|
UTSW |
3 |
144,543,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9658:Clca3b
|
UTSW |
3 |
144,543,575 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9760:Clca3b
|
UTSW |
3 |
144,552,610 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAACACAGAGGATGCCTTTAC -3'
(R):5'- AACTCAAAATTACACTGAACTACCTT -3'
Sequencing Primer
(F):5'- CACAGAGGATGCCTTTACTTTCTAAC -3'
(R):5'- TCTGAGTTCTAGGACAGCCAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation