Incidental Mutation 'R7285:Clca3b'
ID |
565924 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clca3b
|
Ensembl Gene |
ENSMUSG00000037033 |
Gene Name |
chloride channel accessory 3B |
Synonyms |
Clca4 |
MMRRC Submission |
045393-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R7285 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
144528384-144555063 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 144543519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 437
(I437V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124581
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159989]
|
AlphaFold |
E9PUL3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000159989
AA Change: I437V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000124581 Gene: ENSMUSG00000037033 AA Change: I437V
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 |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,388,314 (GRCm39) |
C185* |
probably null |
Het |
Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
Adam1b |
T |
G |
5: 121,639,056 (GRCm39) |
D663A |
probably damaging |
Het |
Arhgap12 |
A |
T |
18: 6,111,920 (GRCm39) |
L148Q |
probably damaging |
Het |
Cdh4 |
A |
T |
2: 179,439,258 (GRCm39) |
Q135L |
probably benign |
Het |
Cldn15 |
A |
T |
5: 137,001,327 (GRCm39) |
H124L |
probably benign |
Het |
Cyp4a30b |
T |
C |
4: 115,313,848 (GRCm39) |
M143T |
probably damaging |
Het |
Dgcr2 |
A |
T |
16: 17,662,944 (GRCm39) |
C353* |
probably null |
Het |
Dhcr24 |
T |
A |
4: 106,428,716 (GRCm39) |
|
probably null |
Het |
Dock1 |
T |
G |
7: 134,346,737 (GRCm39) |
L223R |
probably benign |
Het |
Ece1 |
T |
A |
4: 137,641,074 (GRCm39) |
|
probably null |
Het |
Efcab5 |
A |
G |
11: 77,028,170 (GRCm39) |
V387A |
probably benign |
Het |
Efcab5 |
A |
G |
11: 77,029,041 (GRCm39) |
F97L |
possibly damaging |
Het |
Eme2 |
A |
T |
17: 25,113,543 (GRCm39) |
|
probably null |
Het |
Enpp1 |
G |
A |
10: 24,536,059 (GRCm39) |
T447I |
probably benign |
Het |
Fam222b |
T |
C |
11: 78,034,007 (GRCm39) |
S17P |
probably benign |
Het |
Fbln1 |
A |
G |
15: 85,121,829 (GRCm39) |
I317V |
probably benign |
Het |
Fn1 |
T |
C |
1: 71,676,498 (GRCm39) |
K578E |
probably damaging |
Het |
Fscb |
A |
T |
12: 64,518,323 (GRCm39) |
S1048T |
unknown |
Het |
Fsd1l |
T |
A |
4: 53,682,200 (GRCm39) |
|
probably null |
Het |
Hexa |
T |
A |
9: 59,471,222 (GRCm39) |
I492K |
probably benign |
Het |
Inpp5e |
G |
A |
2: 26,287,870 (GRCm39) |
A642V |
probably benign |
Het |
Ints11 |
C |
T |
4: 155,970,568 (GRCm39) |
A241V |
probably damaging |
Het |
Irs2 |
A |
G |
8: 11,056,797 (GRCm39) |
L545P |
probably damaging |
Het |
Katnal2 |
G |
A |
18: 77,081,271 (GRCm39) |
A409V |
probably benign |
Het |
Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
Lbx2 |
A |
G |
6: 83,064,877 (GRCm39) |
K138R |
probably damaging |
Het |
Lcor |
A |
G |
19: 41,572,754 (GRCm39) |
K503R |
possibly damaging |
Het |
Lpp |
G |
A |
16: 24,796,029 (GRCm39) |
A558T |
probably damaging |
Het |
Lypla1 |
T |
C |
1: 4,911,321 (GRCm39) |
I202T |
probably benign |
Het |
Magi3 |
G |
A |
3: 103,941,430 (GRCm39) |
P842S |
probably benign |
Het |
Meioc |
G |
A |
11: 102,557,168 (GRCm39) |
V25M |
probably benign |
Het |
Mthfr |
C |
T |
4: 148,138,056 (GRCm39) |
T557I |
probably benign |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Or2t44 |
T |
A |
11: 58,677,310 (GRCm39) |
Y83* |
probably null |
Het |
Or5d20-ps1 |
A |
T |
2: 87,932,049 (GRCm39) |
I94N |
probably damaging |
Het |
Osbpl10 |
A |
T |
9: 115,052,771 (GRCm39) |
I440F |
probably damaging |
Het |
Otx2 |
G |
A |
14: 48,898,922 (GRCm39) |
A36V |
probably benign |
Het |
Parg |
A |
G |
14: 31,932,465 (GRCm39) |
Y435C |
probably damaging |
Het |
Parvb |
A |
T |
15: 84,166,985 (GRCm39) |
D100V |
possibly damaging |
Het |
Prss27 |
A |
G |
17: 24,264,665 (GRCm39) |
H276R |
probably benign |
Het |
Prune1 |
T |
A |
3: 95,162,357 (GRCm39) |
S439C |
probably damaging |
Het |
Pudp |
C |
G |
18: 50,701,287 (GRCm39) |
E149Q |
possibly damaging |
Het |
Qng1 |
T |
C |
13: 58,532,199 (GRCm39) |
Y119C |
probably damaging |
Het |
Sin3a |
C |
A |
9: 57,034,583 (GRCm39) |
T1252N |
possibly damaging |
Het |
Sptbn2 |
A |
G |
19: 4,787,471 (GRCm39) |
D927G |
probably benign |
Het |
Stx18 |
C |
T |
5: 38,262,251 (GRCm39) |
T89I |
possibly damaging |
Het |
Ticrr |
T |
C |
7: 79,310,610 (GRCm39) |
S175P |
possibly damaging |
Het |
Tinag |
T |
C |
9: 76,952,943 (GRCm39) |
T14A |
probably benign |
Het |
Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
Trpm1 |
G |
T |
7: 63,859,729 (GRCm39) |
E396* |
probably null |
Het |
Txndc11 |
A |
G |
16: 10,902,163 (GRCm39) |
Y684H |
probably damaging |
Het |
Usp47 |
G |
A |
7: 111,692,315 (GRCm39) |
E926K |
probably benign |
Het |
Vmn1r233 |
A |
G |
17: 21,214,221 (GRCm39) |
I243T |
probably damaging |
Het |
Ythdf3 |
T |
A |
3: 16,258,049 (GRCm39) |
|
probably null |
Het |
Zfp12 |
A |
G |
5: 143,230,444 (GRCm39) |
K289R |
probably damaging |
Het |
Zfp950 |
T |
A |
19: 61,107,550 (GRCm39) |
H511L |
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 |
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 |
|
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 |
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'- TTGGTATACGGAAGCTGCAGG -3'
(R):5'- GGACTCCTCCAGGACTAAAGAAG -3'
Sequencing Primer
(F):5'- GGCAAAGATTAACTTTTAGACAGGG -3'
(R):5'- CCTCCAGGACTAAAGAAGTTTGTTC -3'
|
Posted On |
2019-06-26 |