Incidental Mutation 'R8008:Clca3b'
| ID |
616731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca3b
|
| Ensembl Gene |
ENSMUSG00000037033 |
| Gene Name |
chloride channel accessory 3B |
| Synonyms |
Clca4 |
| MMRRC Submission |
046048-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R8008 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
144528384-144555063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144550370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 192
(T192S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159989]
|
| AlphaFold |
E9PUL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159989
AA Change: T192S
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: T192S
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,429,234 (GRCm39) |
I774F |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,026,384 (GRCm39) |
S536P |
unknown |
Het |
| Ankar |
A |
G |
1: 72,705,643 (GRCm39) |
V789A |
possibly damaging |
Het |
| Atp5f1b |
C |
A |
10: 127,919,277 (GRCm39) |
Q28K |
unknown |
Het |
| Brpf1 |
T |
C |
6: 113,296,050 (GRCm39) |
V781A |
probably benign |
Het |
| Cd177 |
G |
A |
7: 24,451,774 (GRCm39) |
S414L |
not run |
Het |
| Cimip3 |
T |
A |
17: 47,747,661 (GRCm39) |
E28V |
probably damaging |
Het |
| Coro2a |
A |
T |
4: 46,551,349 (GRCm39) |
S119T |
probably damaging |
Het |
| Cpped1 |
T |
C |
16: 11,646,260 (GRCm39) |
N164S |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,818,415 (GRCm39) |
N1390K |
probably damaging |
Het |
| Epn2 |
C |
T |
11: 61,437,492 (GRCm39) |
A27T |
probably damaging |
Het |
| Esp34 |
T |
C |
17: 38,870,490 (GRCm39) |
F128S |
possibly damaging |
Het |
| Evpl |
T |
A |
11: 116,121,298 (GRCm39) |
N410Y |
probably null |
Het |
| Flnb |
A |
G |
14: 7,892,155 (GRCm38) |
Y608C |
probably damaging |
Het |
| Fpr3 |
T |
C |
17: 18,191,715 (GRCm39) |
S329P |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,560,331 (GRCm39) |
N1392I |
probably damaging |
Het |
| Garin2 |
T |
A |
12: 78,761,817 (GRCm39) |
D160E |
probably benign |
Het |
| Gpi1 |
G |
T |
7: 33,917,726 (GRCm39) |
N249K |
probably damaging |
Het |
| Gpr87 |
T |
C |
3: 59,087,466 (GRCm39) |
N13S |
probably benign |
Het |
| Gys2 |
T |
C |
6: 142,400,243 (GRCm39) |
T323A |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,016,770 (GRCm39) |
I1084T |
probably damaging |
Het |
| Lrfn4 |
C |
G |
19: 4,663,565 (GRCm39) |
G323A |
probably benign |
Het |
| Lrrc4c |
A |
T |
2: 97,460,594 (GRCm39) |
S407C |
possibly damaging |
Het |
| Map3k20 |
A |
T |
2: 72,268,613 (GRCm39) |
Q540L |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,407,057 (GRCm39) |
V1158A |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,144,983 (GRCm39) |
D378G |
unknown |
Het |
| Nhsl1 |
T |
A |
10: 18,284,186 (GRCm39) |
D42E |
probably damaging |
Het |
| Nr0b2 |
C |
A |
4: 133,283,339 (GRCm39) |
A192E |
probably benign |
Het |
| Nt5c1b |
A |
G |
12: 10,425,000 (GRCm39) |
D182G |
possibly damaging |
Het |
| Or12d14-ps1 |
T |
C |
17: 37,673,265 (GRCm39) |
S86P |
probably damaging |
Het |
| Or4c115 |
A |
T |
2: 88,928,059 (GRCm39) |
C71S |
probably benign |
Het |
| Or5b119 |
T |
C |
19: 13,457,170 (GRCm39) |
T131A |
probably benign |
Het |
| Or5k15 |
T |
C |
16: 58,710,251 (GRCm39) |
T111A |
probably benign |
Het |
| Or8b12 |
A |
T |
9: 37,658,089 (GRCm39) |
I220F |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,721,126 (GRCm39) |
N250S |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Pmp22 |
C |
T |
11: 63,049,233 (GRCm39) |
R159C |
probably damaging |
Het |
| Pou3f1 |
C |
T |
4: 124,552,764 (GRCm39) |
A422V |
unknown |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,956 (GRCm39) |
L399P |
probably damaging |
Het |
| Rragc |
A |
G |
4: 123,829,340 (GRCm39) |
D352G |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,671,980 (GRCm39) |
V3420A |
probably benign |
Het |
| Sez6 |
T |
A |
11: 77,864,082 (GRCm39) |
Y521* |
probably null |
Het |
| Smc4 |
T |
C |
3: 68,914,645 (GRCm39) |
V86A |
probably damaging |
Het |
| Stap2 |
T |
A |
17: 56,304,790 (GRCm39) |
M331L |
probably benign |
Het |
| Syt8 |
G |
A |
7: 141,992,259 (GRCm39) |
R89H |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Trim21 |
G |
T |
7: 102,209,183 (GRCm39) |
T280K |
probably benign |
Het |
| Trim36 |
C |
A |
18: 46,305,556 (GRCm39) |
V476F |
probably benign |
Het |
| Troap |
G |
T |
15: 98,973,511 (GRCm39) |
R56L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,667,130 (GRCm39) |
I11492K |
unknown |
Het |
| Tuft1 |
T |
C |
3: 94,521,440 (GRCm39) |
T390A |
probably damaging |
Het |
| Ucp1 |
T |
C |
8: 84,020,640 (GRCm39) |
I150T |
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,490,481 (GRCm39) |
C149S |
possibly damaging |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,665 (GRCm39) |
N122K |
possibly damaging |
Het |
| Vmn1r237 |
T |
C |
17: 21,534,456 (GRCm39) |
C60R |
probably damaging |
Het |
| Wdr12 |
A |
T |
1: 60,128,494 (GRCm39) |
Y85* |
probably null |
Het |
| Wdr3 |
T |
C |
3: 100,062,252 (GRCm39) |
D221G |
probably benign |
Het |
| Wdr97 |
G |
A |
15: 76,244,832 (GRCm39) |
E1125K |
|
Het |
| Zan |
T |
C |
5: 137,403,624 (GRCm39) |
E3974G |
unknown |
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 |
|
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 |
|
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'- GCTTAGCTCTATGCAAGGATTCC -3'
(R):5'- TGACCAAGAAGAGTTGTCACTG -3'
Sequencing Primer
(F):5'- CTCTATGCAAGGATTCCATTGTGAG -3'
(R):5'- TTGTCACTGAGGAAAAGATTTCAGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation