Incidental Mutation 'R2920:Clca3b'
| ID |
255457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca3b
|
| Ensembl Gene |
ENSMUSG00000037033 |
| Gene Name |
chloride channel accessory 3B |
| Synonyms |
Clca4 |
| MMRRC Submission |
040505-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R2920 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
144822623-144849357 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 144846931 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 115
(D115N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159989]
|
| AlphaFold |
E9PUL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159989
AA Change: D115N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: D115N
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161990
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
96% (48/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
G |
10: 10,390,243 (GRCm38) |
Y1025H |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,448,865 (GRCm38) |
A4122T |
probably benign |
Het |
| Aloxe3 |
C |
T |
11: 69,142,923 (GRCm38) |
T621I |
probably damaging |
Het |
| Atp2b3 |
A |
C |
X: 73,533,920 (GRCm38) |
T318P |
probably benign |
Het |
| Atrx |
A |
T |
X: 105,830,868 (GRCm38) |
V1962D |
probably benign |
Het |
| Chl1 |
C |
A |
6: 103,695,343 (GRCm38) |
T531K |
probably damaging |
Het |
| Comtd1 |
A |
G |
14: 21,847,618 (GRCm38) |
L149P |
possibly damaging |
Het |
| Cops7a |
A |
G |
6: 124,962,362 (GRCm38) |
V108A |
probably benign |
Het |
| Crebbp |
A |
G |
16: 4,119,082 (GRCm38) |
V343A |
probably damaging |
Het |
| Edrf1 |
T |
A |
7: 133,667,572 (GRCm38) |
D1109E |
probably benign |
Het |
| Elmo3 |
A |
G |
8: 105,308,059 (GRCm38) |
E359G |
possibly damaging |
Het |
| Ep400 |
C |
A |
5: 110,755,914 (GRCm38) |
G273V |
probably damaging |
Het |
| Fgfr3 |
A |
G |
5: 33,733,940 (GRCm38) |
N516S |
probably damaging |
Het |
| Glb1l |
T |
A |
1: 75,209,190 (GRCm38) |
E31D |
probably benign |
Het |
| Gm10093 |
A |
G |
17: 78,492,846 (GRCm38) |
D422G |
probably damaging |
Het |
| Il12rb2 |
C |
T |
6: 67,360,568 (GRCm38) |
V110I |
probably damaging |
Het |
| Ints3 |
T |
C |
3: 90,393,162 (GRCm38) |
E884G |
probably benign |
Het |
| Lin7b |
A |
G |
7: 45,368,397 (GRCm38) |
V170A |
possibly damaging |
Het |
| Lrch2 |
A |
T |
X: 147,473,030 (GRCm38) |
V750E |
probably damaging |
Het |
| Mepe |
C |
T |
5: 104,338,247 (GRCm38) |
R418C |
probably damaging |
Het |
| Mettl25 |
A |
T |
10: 105,765,177 (GRCm38) |
|
probably null |
Het |
| Mphosph9 |
G |
A |
5: 124,261,006 (GRCm38) |
T982I |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,742,934 (GRCm38) |
V128M |
probably damaging |
Het |
| Myo10 |
G |
T |
15: 25,801,140 (GRCm38) |
V1472L |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,325,857 (GRCm38) |
K445R |
probably damaging |
Het |
| Ntng2 |
T |
C |
2: 29,204,211 (GRCm38) |
M383V |
probably benign |
Het |
| Olfr1353 |
A |
C |
10: 78,970,012 (GRCm38) |
D121A |
probably damaging |
Het |
| Olfr30 |
T |
C |
11: 58,455,577 (GRCm38) |
Y124C |
probably damaging |
Het |
| Olfr702 |
C |
T |
7: 106,824,364 (GRCm38) |
R54Q |
probably benign |
Het |
| Pak6 |
A |
T |
2: 118,694,007 (GRCm38) |
|
probably benign |
Het |
| Pcdh8 |
G |
T |
14: 79,768,714 (GRCm38) |
P803Q |
possibly damaging |
Het |
| Pfkfb3 |
C |
T |
2: 11,484,327 (GRCm38) |
V286I |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,956,018 (GRCm38) |
T641M |
probably damaging |
Het |
| Rint1 |
A |
G |
5: 23,805,402 (GRCm38) |
E203G |
probably benign |
Het |
| Sdf2 |
G |
C |
11: 78,254,854 (GRCm38) |
V126L |
probably damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,247,791 (GRCm38) |
E442G |
possibly damaging |
Het |
| Slc14a2 |
G |
T |
18: 78,158,297 (GRCm38) |
S669* |
probably null |
Het |
| Slc38a7 |
A |
G |
8: 95,845,943 (GRCm38) |
I157T |
possibly damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,264,387 (GRCm38) |
L215P |
probably damaging |
Het |
| Tbc1d9 |
T |
C |
8: 83,210,469 (GRCm38) |
V60A |
probably benign |
Het |
| Tcerg1l |
T |
C |
7: 138,248,379 (GRCm38) |
R422G |
probably damaging |
Het |
| Tmem107 |
T |
C |
11: 69,071,421 (GRCm38) |
L68P |
probably damaging |
Het |
| Ugt2b5 |
A |
G |
5: 87,125,407 (GRCm38) |
F467L |
possibly damaging |
Het |
| Vmn1r19 |
A |
T |
6: 57,404,924 (GRCm38) |
N154I |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,411,765 (GRCm38) |
I204L |
probably benign |
Het |
| Zbtb1 |
T |
A |
12: 76,385,845 (GRCm38) |
S202T |
possibly damaging |
Het |
|
| Other mutations in Clca3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Clca3b
|
APN |
3 |
144,836,632 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL00425:Clca3b
|
APN |
3 |
144,836,581 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL00725:Clca3b
|
APN |
3 |
144,839,162 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00898:Clca3b
|
APN |
3 |
144,844,628 (GRCm38) |
splice site |
probably benign |
|
|
IGL00953:Clca3b
|
APN |
3 |
144,847,211 (GRCm38) |
nonsense |
probably null |
|
|
IGL01089:Clca3b
|
APN |
3 |
144,823,522 (GRCm38) |
missense |
probably benign |
|
|
IGL01376:Clca3b
|
APN |
3 |
144,826,051 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
IGL01996:Clca3b
|
APN |
3 |
144,849,163 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02022:Clca3b
|
APN |
3 |
144,841,410 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02200:Clca3b
|
APN |
3 |
144,841,429 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02314:Clca3b
|
APN |
3 |
144,828,142 (GRCm38) |
splice site |
probably benign |
|
|
IGL02331:Clca3b
|
APN |
3 |
144,841,406 (GRCm38) |
splice site |
probably benign |
|
|
IGL02429:Clca3b
|
APN |
3 |
144,828,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02868:Clca3b
|
APN |
3 |
144,827,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03095:Clca3b
|
APN |
3 |
144,846,910 (GRCm38) |
nonsense |
probably null |
|
|
IGL03331:Clca3b
|
APN |
3 |
144,827,963 (GRCm38) |
missense |
probably benign |
|
|
R0242:Clca3b
|
UTSW |
3 |
144,841,465 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0242:Clca3b
|
UTSW |
3 |
144,841,465 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0506:Clca3b
|
UTSW |
3 |
144,822,866 (GRCm38) |
unclassified |
probably benign |
|
|
R0524:Clca3b
|
UTSW |
3 |
144,825,321 (GRCm38) |
missense |
probably benign |
|
|
R0637:Clca3b
|
UTSW |
3 |
144,827,940 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1577:Clca3b
|
UTSW |
3 |
144,823,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1641:Clca3b
|
UTSW |
3 |
144,823,513 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1680:Clca3b
|
UTSW |
3 |
144,837,824 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2240:Clca3b
|
UTSW |
3 |
144,825,935 (GRCm38) |
missense |
probably benign |
0.22 |
|
R2248:Clca3b
|
UTSW |
3 |
144,825,219 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2259:Clca3b
|
UTSW |
3 |
144,846,381 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R2920:Clca3b
|
UTSW |
3 |
144,837,853 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4355:Clca3b
|
UTSW |
3 |
144,825,458 (GRCm38) |
splice site |
probably null |
|
|
R4691:Clca3b
|
UTSW |
3 |
144,839,092 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4828:Clca3b
|
UTSW |
3 |
144,844,512 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4845:Clca3b
|
UTSW |
3 |
144,825,270 (GRCm38) |
missense |
probably benign |
|
|
R5182:Clca3b
|
UTSW |
3 |
144,828,015 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5396:Clca3b
|
UTSW |
3 |
144,847,171 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5429:Clca3b
|
UTSW |
3 |
144,846,459 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5572:Clca3b
|
UTSW |
3 |
144,827,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5657:Clca3b
|
UTSW |
3 |
144,827,383 (GRCm38) |
missense |
probably benign |
0.25 |
|
R5845:Clca3b
|
UTSW |
3 |
144,825,316 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R6505:Clca3b
|
UTSW |
3 |
144,825,259 (GRCm38) |
missense |
probably benign |
0.18 |
|
R6677:Clca3b
|
UTSW |
3 |
144,823,384 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6707:Clca3b
|
UTSW |
3 |
144,844,527 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7001:Clca3b
|
UTSW |
3 |
144,827,972 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R7285:Clca3b
|
UTSW |
3 |
144,837,758 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7323:Clca3b
|
UTSW |
3 |
144,825,920 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R7324:Clca3b
|
UTSW |
3 |
144,841,420 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7334:Clca3b
|
UTSW |
3 |
144,836,656 (GRCm38) |
nonsense |
probably null |
|
|
R7403:Clca3b
|
UTSW |
3 |
144,823,498 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7798:Clca3b
|
UTSW |
3 |
144,828,130 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8008:Clca3b
|
UTSW |
3 |
144,844,609 (GRCm38) |
missense |
probably benign |
0.44 |
|
R8132:Clca3b
|
UTSW |
3 |
144,847,174 (GRCm38) |
missense |
probably benign |
0.13 |
|
R8181:Clca3b
|
UTSW |
3 |
144,839,137 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8305:Clca3b
|
UTSW |
3 |
144,825,937 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8546:Clca3b
|
UTSW |
3 |
144,827,397 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8716:Clca3b
|
UTSW |
3 |
144,844,594 (GRCm38) |
missense |
probably benign |
0.14 |
|
R8804:Clca3b
|
UTSW |
3 |
144,839,137 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8966:Clca3b
|
UTSW |
3 |
144,839,111 (GRCm38) |
missense |
probably benign |
0.27 |
|
R9003:Clca3b
|
UTSW |
3 |
144,827,311 (GRCm38) |
nonsense |
probably null |
|
|
R9455:Clca3b
|
UTSW |
3 |
144,823,262 (GRCm38) |
missense |
unknown |
|
|
R9470:Clca3b
|
UTSW |
3 |
144,837,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9658:Clca3b
|
UTSW |
3 |
144,837,814 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9760:Clca3b
|
UTSW |
3 |
144,846,849 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACATTAACGGTAGTGGTTTG -3'
(R):5'- GGTGTCACATCTATCTTCTAAACTGC -3'
Sequencing Primer
(F):5'- AGTGGTTTGCTTTTCCCCAG -3'
(R):5'- ACAGATGAATCCTTGTACCTTTGGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation