Incidental Mutation 'IGL02314:Clca3b'
ID |
287981 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Clca3b
|
Ensembl Gene |
ENSMUSG00000037033 |
Gene Name |
chloride channel accessory 3B |
Synonyms |
Clca4 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL02314
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
144528384-144555063 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 144533903 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124581
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159989]
|
AlphaFold |
E9PUL3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000159989
|
SMART Domains |
Protein: ENSMUSP00000124581 Gene: ENSMUSG00000037033
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg2 |
T |
A |
4: 47,472,143 (GRCm39) |
K94* |
probably null |
Het |
Axl |
A |
G |
7: 25,486,345 (GRCm39) |
F120L |
possibly damaging |
Het |
Baz2b |
A |
G |
2: 59,792,571 (GRCm39) |
V519A |
probably benign |
Het |
Cdk2 |
A |
T |
10: 128,539,595 (GRCm39) |
I99N |
probably damaging |
Het |
Ces1b |
C |
A |
8: 93,791,524 (GRCm39) |
W358C |
possibly damaging |
Het |
Cimap1b |
T |
G |
15: 89,262,372 (GRCm39) |
K82N |
probably damaging |
Het |
Col6a4 |
T |
G |
9: 105,874,355 (GRCm39) |
T2211P |
probably damaging |
Het |
Cyp4f14 |
C |
T |
17: 33,125,265 (GRCm39) |
E438K |
probably benign |
Het |
Dpy19l4 |
T |
A |
4: 11,267,720 (GRCm39) |
T407S |
possibly damaging |
Het |
Dtx3 |
G |
A |
10: 127,026,828 (GRCm39) |
|
probably benign |
Het |
Eif1ad14 |
T |
A |
12: 87,886,377 (GRCm39) |
Y84F |
probably benign |
Het |
Fat3 |
A |
T |
9: 15,881,134 (GRCm39) |
L3246H |
possibly damaging |
Het |
Fat4 |
A |
T |
3: 38,941,779 (GRCm39) |
D224V |
probably damaging |
Het |
Fndc9 |
A |
T |
11: 46,129,122 (GRCm39) |
I214F |
probably benign |
Het |
Foxred1 |
A |
T |
9: 35,117,264 (GRCm39) |
I22N |
probably damaging |
Het |
Gkn1 |
T |
C |
6: 87,326,103 (GRCm39) |
D29G |
probably benign |
Het |
Gng11 |
T |
A |
6: 4,004,317 (GRCm39) |
M1K |
probably null |
Het |
Hdac7 |
T |
C |
15: 97,706,885 (GRCm39) |
D237G |
probably damaging |
Het |
Hgf |
A |
G |
5: 16,777,600 (GRCm39) |
Y199C |
probably damaging |
Het |
Hgfac |
A |
T |
5: 35,198,941 (GRCm39) |
M1L |
probably benign |
Het |
Hsd17b6 |
T |
C |
10: 127,833,777 (GRCm39) |
T35A |
probably damaging |
Het |
Htr3a |
G |
A |
9: 48,815,927 (GRCm39) |
P170L |
probably damaging |
Het |
Ighv12-3 |
A |
G |
12: 114,330,421 (GRCm39) |
S25P |
probably damaging |
Het |
Jph2 |
A |
T |
2: 163,239,273 (GRCm39) |
N58K |
probably damaging |
Het |
Lama5 |
A |
G |
2: 179,836,275 (GRCm39) |
|
probably benign |
Het |
Lpin3 |
T |
A |
2: 160,740,638 (GRCm39) |
Y394* |
probably null |
Het |
Macf1 |
G |
T |
4: 123,338,630 (GRCm39) |
T2248K |
probably damaging |
Het |
Map3k2 |
A |
G |
18: 32,351,553 (GRCm39) |
|
probably benign |
Het |
Map4k5 |
G |
A |
12: 69,865,213 (GRCm39) |
P524S |
probably benign |
Het |
Mcf2l |
C |
T |
8: 13,051,851 (GRCm39) |
S359L |
probably damaging |
Het |
Mdh1b |
C |
T |
1: 63,750,273 (GRCm39) |
|
probably null |
Het |
Mfhas1 |
G |
A |
8: 36,055,927 (GRCm39) |
R134H |
probably damaging |
Het |
Mogs |
A |
G |
6: 83,095,036 (GRCm39) |
T618A |
probably benign |
Het |
Mybpc2 |
T |
A |
7: 44,171,812 (GRCm39) |
Q39H |
possibly damaging |
Het |
Myoc |
C |
T |
1: 162,466,917 (GRCm39) |
R29W |
probably damaging |
Het |
Nae1 |
A |
G |
8: 105,252,938 (GRCm39) |
M162T |
probably damaging |
Het |
Nfatc3 |
A |
G |
8: 106,805,532 (GRCm39) |
I126V |
probably benign |
Het |
Nxnl2 |
C |
A |
13: 51,325,565 (GRCm39) |
F69L |
probably benign |
Het |
Oca2 |
T |
A |
7: 56,006,899 (GRCm39) |
I662N |
probably benign |
Het |
Or52b3 |
A |
T |
7: 102,204,318 (GRCm39) |
I276F |
probably damaging |
Het |
Or5w8 |
A |
G |
2: 87,688,400 (GRCm39) |
N294D |
probably damaging |
Het |
Or7c70 |
A |
T |
10: 78,683,099 (GRCm39) |
S217T |
probably damaging |
Het |
Or7e176 |
A |
T |
9: 20,171,774 (GRCm39) |
I213L |
probably benign |
Het |
Pcdhb14 |
G |
A |
18: 37,583,248 (GRCm39) |
E785K |
probably benign |
Het |
Plb1 |
A |
C |
5: 32,438,492 (GRCm39) |
Y209S |
possibly damaging |
Het |
Pramel24 |
T |
C |
4: 143,455,012 (GRCm39) |
S437P |
probably benign |
Het |
Rab44 |
C |
A |
17: 29,358,327 (GRCm39) |
Q172K |
probably benign |
Het |
Rnf214 |
A |
T |
9: 45,811,105 (GRCm39) |
V186E |
probably benign |
Het |
Rps6ka1 |
C |
A |
4: 133,578,065 (GRCm39) |
G522W |
probably damaging |
Het |
Samhd1 |
G |
T |
2: 156,976,948 (GRCm39) |
T21K |
probably damaging |
Het |
Scly |
A |
G |
1: 91,246,763 (GRCm39) |
Y358C |
probably benign |
Het |
Sfxn2 |
A |
G |
19: 46,571,026 (GRCm39) |
N29D |
possibly damaging |
Het |
Shank2 |
A |
G |
7: 143,965,008 (GRCm39) |
D1451G |
probably benign |
Het |
Slc44a5 |
G |
A |
3: 153,962,156 (GRCm39) |
S363N |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,753,932 (GRCm39) |
|
probably benign |
Het |
Tas1r3 |
A |
T |
4: 155,945,119 (GRCm39) |
C701S |
probably damaging |
Het |
Tmem87a |
A |
G |
2: 120,234,502 (GRCm39) |
S14P |
possibly damaging |
Het |
Trmt6 |
G |
A |
2: 132,647,378 (GRCm39) |
A486V |
probably benign |
Het |
Ttn |
G |
A |
2: 76,727,091 (GRCm39) |
R1602* |
probably null |
Het |
Ush2a |
A |
G |
1: 188,365,826 (GRCm39) |
M2227V |
probably benign |
Het |
Vmn2r96 |
A |
T |
17: 18,804,221 (GRCm39) |
Q490H |
probably benign |
Het |
Wdr19 |
G |
T |
5: 65,414,463 (GRCm39) |
A1279S |
probably benign |
Het |
Zbtb7c |
G |
A |
18: 76,278,937 (GRCm39) |
R465H |
probably damaging |
Het |
Zfp473 |
T |
C |
7: 44,383,353 (GRCm39) |
S326G |
probably benign |
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 |
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 |
|
R5182:Clca3b
|
UTSW |
3 |
144,533,776 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
Posted On |
2015-04-16 |