Incidental Mutation 'R1641:Clca3b'
| ID |
173521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca3b
|
| Ensembl Gene |
ENSMUSG00000037033 |
| Gene Name |
chloride channel accessory 3B |
| Synonyms |
Clca4 |
| MMRRC Submission |
039677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R1641 (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 144529274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 800
(M800K)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000159989
AA Change: M800K
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: M800K
| 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: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 77,039,626 (GRCm39) |
T228S |
probably benign |
Het |
| Adamts2 |
C |
T |
11: 50,683,612 (GRCm39) |
P965S |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,618,485 (GRCm39) |
I1768T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,743,234 (GRCm39) |
L1579Q |
probably damaging |
Het |
| Btbd7 |
A |
G |
12: 102,757,034 (GRCm39) |
V684A |
probably damaging |
Het |
| Camk1g |
T |
A |
1: 193,038,665 (GRCm39) |
I86F |
probably benign |
Het |
| Capn13 |
A |
T |
17: 73,689,889 (GRCm39) |
S41T |
possibly damaging |
Het |
| Cep192 |
C |
A |
18: 67,980,504 (GRCm39) |
L1422I |
probably damaging |
Het |
| Chaf1a |
T |
C |
17: 56,354,380 (GRCm39) |
F217L |
unknown |
Het |
| Cplane1 |
A |
G |
15: 8,258,443 (GRCm39) |
T2230A |
probably benign |
Het |
| Crocc |
A |
G |
4: 140,744,388 (GRCm39) |
V1836A |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,377,188 (GRCm39) |
V2023M |
possibly damaging |
Het |
| Cul9 |
A |
G |
17: 46,854,486 (GRCm39) |
V72A |
possibly damaging |
Het |
| Ddx52 |
T |
C |
11: 83,834,269 (GRCm39) |
|
probably null |
Het |
| Dennd5b |
A |
C |
6: 148,969,703 (GRCm39) |
V250G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gtpbp4 |
A |
T |
13: 9,023,285 (GRCm39) |
M593K |
probably benign |
Het |
| Il21 |
A |
G |
3: 37,286,681 (GRCm39) |
F12L |
probably benign |
Het |
| Lrit2 |
T |
A |
14: 36,791,105 (GRCm39) |
N261K |
probably benign |
Het |
| Lrrc39 |
G |
T |
3: 116,364,562 (GRCm39) |
C151F |
probably damaging |
Het |
| Lsm14a |
C |
A |
7: 34,050,799 (GRCm39) |
R426L |
probably damaging |
Het |
| Maml1 |
G |
A |
11: 50,157,774 (GRCm39) |
P134S |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,722,542 (GRCm39) |
C235R |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Nsmaf |
T |
C |
4: 6,409,884 (GRCm39) |
E663G |
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 78,005,822 (GRCm39) |
N513S |
probably damaging |
Het |
| Nufip1 |
T |
G |
14: 76,363,692 (GRCm39) |
N305K |
possibly damaging |
Het |
| Or10al5 |
C |
T |
17: 38,062,916 (GRCm39) |
T57I |
possibly damaging |
Het |
| Or2ag1b |
T |
A |
7: 106,288,918 (GRCm39) |
T7S |
probably benign |
Het |
| Or4c10b |
A |
T |
2: 89,711,745 (GRCm39) |
T192S |
probably benign |
Het |
| Or51a6 |
T |
A |
7: 102,604,175 (GRCm39) |
D218V |
probably benign |
Het |
| Or9r3 |
A |
T |
10: 129,947,872 (GRCm39) |
Y262* |
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,194,894 (GRCm39) |
V168A |
probably benign |
Het |
| Prex2 |
T |
C |
1: 11,301,996 (GRCm39) |
V1433A |
probably damaging |
Het |
| Prl7a1 |
A |
T |
13: 27,817,612 (GRCm39) |
D217E |
probably damaging |
Het |
| Prr3 |
G |
A |
17: 36,285,484 (GRCm39) |
R86* |
probably null |
Het |
| Ptprz1 |
T |
C |
6: 23,049,605 (GRCm39) |
F1350L |
probably damaging |
Het |
| R3hcc1l |
T |
C |
19: 42,552,046 (GRCm39) |
S348P |
possibly damaging |
Het |
| Rag2 |
A |
T |
2: 101,459,960 (GRCm39) |
Q90L |
probably benign |
Het |
| Scel |
T |
C |
14: 103,770,752 (GRCm39) |
L62P |
probably damaging |
Het |
| Serpini1 |
A |
T |
3: 75,521,977 (GRCm39) |
E156V |
possibly damaging |
Het |
| Skint4 |
T |
A |
4: 111,993,240 (GRCm39) |
I321K |
possibly damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,286,098 (GRCm39) |
D478G |
probably damaging |
Het |
| Sppl2b |
G |
T |
10: 80,700,965 (GRCm39) |
V164F |
probably damaging |
Het |
| Traf5 |
T |
A |
1: 191,729,470 (GRCm39) |
N527I |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,244,176 (GRCm39) |
D17E |
probably benign |
Het |
| Txlnb |
G |
A |
10: 17,682,521 (GRCm39) |
A148T |
possibly damaging |
Het |
| Ubtf |
A |
G |
11: 102,201,757 (GRCm39) |
Y256H |
probably damaging |
Het |
| Usp25 |
T |
C |
16: 76,868,559 (GRCm39) |
F320S |
possibly damaging |
Het |
| Utp14b |
T |
C |
1: 78,643,656 (GRCm39) |
V518A |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,593,834 (GRCm39) |
V2192A |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,533 (GRCm39) |
M256K |
probably benign |
Het |
| Vmn2r114 |
T |
A |
17: 23,515,962 (GRCm39) |
M510L |
probably benign |
Het |
| Xdh |
T |
A |
17: 74,233,547 (GRCm39) |
Q189L |
probably benign |
Het |
| Zfat |
C |
T |
15: 68,051,959 (GRCm39) |
A605T |
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 |
|
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 |
2014-04-24 |
Incidental Mutation