Incidental Mutation 'R4691:Clca3b'
| ID |
354896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca3b
|
| Ensembl Gene |
ENSMUSG00000037033 |
| Gene Name |
chloride channel accessory 3B |
| Synonyms |
Clca4 |
| MMRRC Submission |
041942-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R4691 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
144528384-144555063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 144544853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 378
(T378I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159989]
|
| AlphaFold |
E9PUL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159989
AA Change: T378I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: T378I
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
97% (70/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,384,195 (GRCm39) |
R3882S |
probably damaging |
Het |
| Adamts2 |
G |
T |
11: 50,647,523 (GRCm39) |
V299F |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,537,159 (GRCm39) |
S65P |
probably benign |
Het |
| Ap4e1 |
T |
C |
2: 126,903,791 (GRCm39) |
C898R |
probably benign |
Het |
| Arel1 |
A |
T |
12: 84,977,023 (GRCm39) |
|
probably null |
Het |
| Bag6 |
T |
A |
17: 35,358,224 (GRCm39) |
V164D |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 142,975,874 (GRCm39) |
S769P |
possibly damaging |
Het |
| Cables1 |
C |
T |
18: 11,973,580 (GRCm39) |
Q240* |
probably null |
Het |
| Ccnb1-ps |
T |
A |
7: 41,755,516 (GRCm39) |
|
noncoding transcript |
Het |
| Ccz1 |
A |
T |
5: 143,928,380 (GRCm39) |
I390N |
possibly damaging |
Het |
| Ceacam23 |
T |
A |
7: 17,642,891 (GRCm39) |
S434T |
possibly damaging |
Het |
| Ces1a |
T |
C |
8: 93,759,287 (GRCm39) |
H283R |
probably benign |
Het |
| Cpne2 |
A |
T |
8: 95,284,849 (GRCm39) |
I342F |
probably damaging |
Het |
| Cyp2d9 |
A |
G |
15: 82,340,033 (GRCm39) |
D141G |
probably damaging |
Het |
| Ddias |
T |
A |
7: 92,508,024 (GRCm39) |
K630N |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,179,619 (GRCm39) |
T626A |
probably damaging |
Het |
| Disc1 |
T |
C |
8: 125,875,186 (GRCm39) |
V554A |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,852,581 (GRCm39) |
T1880A |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Epop |
C |
T |
11: 97,519,719 (GRCm39) |
G130D |
possibly damaging |
Het |
| Erap1 |
T |
C |
13: 74,821,811 (GRCm39) |
L722P |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 23,015,966 (GRCm39) |
T334S |
probably benign |
Het |
| Ezr |
T |
C |
17: 7,026,961 (GRCm39) |
I5V |
probably benign |
Het |
| Fam53c |
A |
C |
18: 34,901,743 (GRCm39) |
E220A |
probably damaging |
Het |
| Galnt12 |
T |
C |
4: 47,104,143 (GRCm39) |
S134P |
probably damaging |
Het |
| Gcfc2 |
T |
A |
6: 81,918,408 (GRCm39) |
L366* |
probably null |
Het |
| Gins4 |
T |
A |
8: 23,727,075 (GRCm39) |
D6V |
probably benign |
Het |
| Grid1 |
A |
G |
14: 35,291,514 (GRCm39) |
H807R |
probably benign |
Het |
| H2-T22 |
GTTTT |
GTTT |
17: 36,352,462 (GRCm39) |
|
probably null |
Het |
| Ighv1-66 |
T |
C |
12: 115,556,929 (GRCm39) |
Y51C |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,849,282 (GRCm39) |
Y901F |
probably damaging |
Het |
| Irf2 |
T |
A |
8: 47,299,222 (GRCm39) |
S339T |
probably damaging |
Het |
| Itgae |
G |
T |
11: 73,010,345 (GRCm39) |
G612* |
probably null |
Het |
| Kdr |
T |
C |
5: 76,105,259 (GRCm39) |
K1037R |
possibly damaging |
Het |
| Mro |
A |
T |
18: 74,006,397 (GRCm39) |
M115L |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,087,438 (GRCm39) |
E1098G |
probably damaging |
Het |
| Nkx2-1 |
T |
A |
12: 56,580,350 (GRCm39) |
M197L |
probably benign |
Het |
| Or7e165 |
T |
C |
9: 19,694,678 (GRCm39) |
I83T |
probably benign |
Het |
| Pank2 |
T |
A |
2: 131,138,201 (GRCm39) |
F430L |
possibly damaging |
Het |
| Pcx |
T |
A |
19: 4,669,505 (GRCm39) |
V794E |
probably damaging |
Het |
| Pdgfd |
C |
T |
9: 6,288,556 (GRCm39) |
P70L |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 120,004,781 (GRCm39) |
Y521C |
probably damaging |
Het |
| Pou5f1 |
T |
A |
17: 35,817,028 (GRCm39) |
F11Y |
probably damaging |
Het |
| Prdm9 |
A |
G |
17: 15,773,640 (GRCm39) |
M252T |
probably benign |
Het |
| Ptk2b |
C |
T |
14: 66,394,518 (GRCm39) |
G859S |
probably benign |
Het |
| Rad51ap1 |
A |
G |
6: 126,904,516 (GRCm39) |
S123P |
probably benign |
Het |
| Robo3 |
T |
C |
9: 37,336,514 (GRCm39) |
E418G |
probably damaging |
Het |
| Sos2 |
C |
T |
12: 69,663,102 (GRCm39) |
R631H |
probably damaging |
Het |
| Sp140l1 |
C |
T |
1: 85,066,521 (GRCm39) |
|
probably benign |
Het |
| St3gal2 |
C |
T |
8: 111,684,417 (GRCm39) |
T25I |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,882,851 (GRCm39) |
A521T |
probably benign |
Het |
| Syt7 |
T |
A |
19: 10,403,845 (GRCm39) |
L177Q |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,191,844 (GRCm39) |
Q863H |
possibly damaging |
Het |
| Tmem232 |
T |
C |
17: 65,572,237 (GRCm39) |
K585E |
possibly damaging |
Het |
| Trpc6 |
A |
C |
9: 8,652,979 (GRCm39) |
E595A |
probably damaging |
Het |
| Txnl1 |
A |
G |
18: 63,804,750 (GRCm39) |
V248A |
possibly damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,119 (GRCm39) |
L815* |
probably null |
Het |
| Vmn2r81 |
C |
T |
10: 79,129,211 (GRCm39) |
Q701* |
probably null |
Het |
| Vps13c |
T |
C |
9: 67,860,217 (GRCm39) |
V2811A |
possibly damaging |
Het |
| Vsig10l2 |
T |
C |
9: 35,428,158 (GRCm39) |
S106G |
possibly damaging |
Het |
| Zfp354a |
A |
G |
11: 50,961,064 (GRCm39) |
E425G |
probably damaging |
Het |
| Zfp617 |
A |
T |
8: 72,686,659 (GRCm39) |
T330S |
probably benign |
Het |
| Zfp663 |
G |
T |
2: 165,201,050 (GRCm39) |
|
probably benign |
Het |
| Zfp84 |
T |
C |
7: 29,476,505 (GRCm39) |
L399P |
probably damaging |
Het |
| Zfp869 |
A |
T |
8: 70,159,513 (GRCm39) |
C353* |
probably null |
Het |
| Zscan22 |
C |
T |
7: 12,640,488 (GRCm39) |
A85V |
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 |
|
|
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'- TGGGGAAGGCTACTTTCTCTACAC -3'
(R):5'- TTTTGTTTAAACAGGGAAGCCC -3'
Sequencing Primer
(F):5'- GGAAGGCTACTTTCTCTACACAGATG -3'
(R):5'- GAAGCCCCATCACTCGTCTG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation