Incidental Mutation 'R1577:Clca3b'
| ID |
171207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca3b
|
| Ensembl Gene |
ENSMUSG00000037033 |
| Gene Name |
chloride channel accessory 3B |
| Synonyms |
Clca4 |
| MMRRC Submission |
039615-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R1577 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
144528384-144555063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144529280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 798
(I798N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029929]
[ENSMUST00000159989]
|
| AlphaFold |
E9PUL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029929
|
| SMART Domains |
Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
VWA
|
306 |
478 |
1.5e-21 |
SMART |
|
FN3
|
758 |
857 |
5.49e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159989
AA Change: I798N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: I798N
| 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: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,133,264 (GRCm39) |
N404S |
possibly damaging |
Het |
| Cep85 |
T |
C |
4: 133,879,599 (GRCm39) |
E383G |
probably damaging |
Het |
| Chst4 |
A |
T |
8: 110,756,476 (GRCm39) |
H379Q |
probably benign |
Het |
| Cldnd1 |
T |
G |
16: 58,553,016 (GRCm39) |
L159R |
possibly damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,906,104 (GRCm39) |
E834G |
probably damaging |
Het |
| Col2a1 |
C |
T |
15: 97,877,083 (GRCm39) |
R1065Q |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,415,162 (GRCm39) |
D674G |
probably damaging |
Het |
| Dntt |
A |
G |
19: 41,044,224 (GRCm39) |
Y463C |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,819,241 (GRCm39) |
E257G |
probably benign |
Het |
| Eif4b |
C |
T |
15: 101,998,336 (GRCm39) |
R339* |
probably null |
Het |
| Fat1 |
C |
T |
8: 45,476,420 (GRCm39) |
T1822M |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,435,413 (GRCm39) |
N282D |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,631,269 (GRCm39) |
M233V |
possibly damaging |
Het |
| Gabbr2 |
T |
A |
4: 46,684,319 (GRCm39) |
M652L |
probably benign |
Het |
| Gal3st2c |
G |
A |
1: 93,934,650 (GRCm39) |
V13M |
probably damaging |
Het |
| Gapvd1 |
C |
T |
2: 34,599,240 (GRCm39) |
G686D |
probably damaging |
Het |
| Gdap1l1 |
T |
G |
2: 163,280,524 (GRCm39) |
L20R |
probably damaging |
Het |
| Gm5800 |
A |
T |
14: 51,952,016 (GRCm39) |
M82K |
probably benign |
Het |
| Grm6 |
T |
A |
11: 50,753,972 (GRCm39) |
C759S |
probably damaging |
Het |
| Hs3st1 |
A |
T |
5: 39,772,393 (GRCm39) |
D83E |
probably benign |
Het |
| Il12rb1 |
A |
G |
8: 71,263,250 (GRCm39) |
D39G |
probably damaging |
Het |
| Ldhb |
C |
A |
6: 142,438,324 (GRCm39) |
K244N |
possibly damaging |
Het |
| Lypd6 |
C |
T |
2: 50,080,710 (GRCm39) |
R133* |
probably null |
Het |
| Med13l |
G |
A |
5: 118,859,457 (GRCm39) |
G215S |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,345,196 (GRCm39) |
D606G |
probably damaging |
Het |
| Noc2l |
C |
T |
4: 156,325,079 (GRCm39) |
T151M |
probably damaging |
Het |
| Or10q3 |
T |
C |
19: 11,847,741 (GRCm39) |
T280A |
probably damaging |
Het |
| Or2ag2 |
T |
C |
7: 106,485,217 (GRCm39) |
K269R |
probably benign |
Het |
| Or2at4 |
T |
C |
7: 99,384,563 (GRCm39) |
L71P |
probably damaging |
Het |
| Or2t26 |
T |
A |
11: 49,040,016 (GRCm39) |
C311S |
probably benign |
Het |
| Or5aq1b |
T |
C |
2: 86,901,741 (GRCm39) |
T246A |
probably benign |
Het |
| Ppm1l |
G |
A |
3: 69,460,403 (GRCm39) |
G327R |
probably damaging |
Het |
| Rapgef5 |
C |
T |
12: 117,558,911 (GRCm39) |
A282V |
probably benign |
Het |
| Rnf139 |
T |
C |
15: 58,771,367 (GRCm39) |
V464A |
probably damaging |
Het |
| Rprd2 |
C |
T |
3: 95,672,047 (GRCm39) |
E1119K |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,219,001 (GRCm39) |
T112I |
probably benign |
Het |
| Skint6 |
T |
C |
4: 113,005,720 (GRCm39) |
T363A |
possibly damaging |
Het |
| Slc22a16 |
G |
T |
10: 40,479,811 (GRCm39) |
E607* |
probably null |
Het |
| Slc24a2 |
T |
C |
4: 86,909,648 (GRCm39) |
Y690C |
probably damaging |
Het |
| Slc25a23 |
T |
C |
17: 57,354,306 (GRCm39) |
S115G |
probably benign |
Het |
| Slc4a3 |
T |
C |
1: 75,527,535 (GRCm39) |
L168P |
probably damaging |
Het |
| Spats2 |
T |
A |
15: 99,076,333 (GRCm39) |
I137N |
possibly damaging |
Het |
| Stard4 |
A |
T |
18: 33,338,151 (GRCm39) |
V133D |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,284,728 (GRCm39) |
|
probably null |
Het |
| Tfpi |
A |
G |
2: 84,263,447 (GRCm39) |
I305T |
probably damaging |
Het |
| Tmtc1 |
T |
A |
6: 148,314,318 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
A |
C |
5: 120,682,485 (GRCm39) |
W508G |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,030,974 (GRCm39) |
N406K |
possibly damaging |
Het |
| Xrcc1 |
T |
A |
7: 24,265,052 (GRCm39) |
L118* |
probably null |
Het |
| Zbtb5 |
T |
C |
4: 44,995,129 (GRCm39) |
Y85C |
probably damaging |
Het |
| Zfand4 |
C |
A |
6: 116,306,373 (GRCm39) |
Y735* |
probably null |
Het |
| Zfp180 |
G |
T |
7: 23,805,333 (GRCm39) |
C584F |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTTCATTGTCAGCCTGGATTGC -3'
(R):5'- AGCGTCTGTGACCTTTGACTCTTG -3'
Sequencing Primer
(F):5'- CAATGTAGACTTGGGTGCCATTTTC -3'
(R):5'- GTCCTCCCTGTATGTAACTGTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation