Incidental Mutation 'R8305:Clca3b'
ID |
640980 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clca3b
|
Ensembl Gene |
ENSMUSG00000037033 |
Gene Name |
chloride channel accessory 3B |
Synonyms |
Clca4 |
MMRRC Submission |
067716-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R8305 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
144528384-144555063 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 144531698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 702
(N702I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124581
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159989]
|
AlphaFold |
E9PUL3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159989
AA Change: N702I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124581 Gene: ENSMUSG00000037033 AA Change: N702I
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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
98% (65/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I06Rik |
C |
T |
14: 64,208,844 (GRCm39) |
E243K |
possibly damaging |
Het |
Accsl |
A |
T |
2: 93,696,423 (GRCm39) |
H58Q |
probably benign |
Het |
Actl7a |
T |
A |
4: 56,743,744 (GRCm39) |
F90L |
probably benign |
Het |
Adam5 |
G |
A |
8: 25,300,719 (GRCm39) |
A270V |
possibly damaging |
Het |
Angptl3 |
A |
G |
4: 98,919,548 (GRCm39) |
T103A |
probably damaging |
Het |
Ankhd1 |
T |
C |
18: 36,780,219 (GRCm39) |
L1757P |
possibly damaging |
Het |
Apoa4 |
T |
A |
9: 46,152,453 (GRCm39) |
M1K |
probably null |
Het |
Arih1 |
T |
A |
9: 59,303,770 (GRCm39) |
Q445L |
probably benign |
Het |
Asb14 |
A |
T |
14: 26,634,054 (GRCm39) |
I420L |
probably benign |
Het |
Bbs2 |
A |
C |
8: 94,800,953 (GRCm39) |
V626G |
probably damaging |
Het |
Cep290 |
C |
A |
10: 100,380,796 (GRCm39) |
A1678D |
probably benign |
Het |
Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
Clca3a1 |
C |
T |
3: 144,464,927 (GRCm39) |
|
probably benign |
Het |
Col24a1 |
T |
C |
3: 145,179,937 (GRCm39) |
V1143A |
probably benign |
Het |
Cux1 |
T |
C |
5: 136,388,863 (GRCm39) |
T223A |
probably benign |
Het |
Defa30 |
A |
T |
8: 21,625,475 (GRCm39) |
T80S |
probably benign |
Het |
Dennd1a |
G |
A |
2: 37,748,093 (GRCm39) |
L375F |
probably damaging |
Het |
Dnajc6 |
C |
T |
4: 101,480,984 (GRCm39) |
T675I |
probably damaging |
Het |
Emc9 |
A |
G |
14: 55,822,556 (GRCm39) |
V4A |
probably damaging |
Het |
Enpp3 |
C |
G |
10: 24,700,827 (GRCm39) |
|
probably null |
Het |
Fam117b |
A |
G |
1: 59,952,782 (GRCm39) |
T154A |
probably benign |
Het |
Filip1 |
G |
T |
9: 79,727,757 (GRCm39) |
Y287* |
probably null |
Het |
Flt3 |
T |
C |
5: 147,284,864 (GRCm39) |
D751G |
probably damaging |
Het |
Frem1 |
T |
A |
4: 82,918,226 (GRCm39) |
Q572L |
probably benign |
Het |
Gja10 |
G |
A |
4: 32,602,441 (GRCm39) |
|
probably benign |
Het |
Gm39115 |
A |
G |
7: 141,689,360 (GRCm39) |
C138R |
unknown |
Het |
Gm7356 |
T |
A |
17: 14,221,699 (GRCm39) |
Y110F |
probably benign |
Het |
Igf2r |
T |
C |
17: 12,952,747 (GRCm39) |
K233R |
probably benign |
Het |
Igkv9-129 |
A |
T |
6: 67,817,206 (GRCm39) |
E103D |
probably benign |
Het |
Igsf11 |
C |
A |
16: 38,827,586 (GRCm39) |
T48N |
probably damaging |
Het |
Itpkc |
A |
T |
7: 26,913,944 (GRCm39) |
Y506N |
probably damaging |
Het |
Kat2a |
A |
C |
11: 100,600,304 (GRCm39) |
M357R |
possibly damaging |
Het |
Kbtbd12 |
T |
C |
6: 88,595,132 (GRCm39) |
R233G |
possibly damaging |
Het |
Kcnd2 |
T |
A |
6: 21,726,197 (GRCm39) |
C563* |
probably null |
Het |
Kcnu1 |
T |
C |
8: 26,382,018 (GRCm39) |
V456A |
probably benign |
Het |
Kif24 |
A |
G |
4: 41,428,825 (GRCm39) |
V45A |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,289,414 (GRCm39) |
|
probably benign |
Het |
Map3k19 |
T |
A |
1: 127,745,007 (GRCm39) |
E1177D |
|
Het |
Mdn1 |
G |
T |
4: 32,725,107 (GRCm39) |
L2575F |
probably benign |
Het |
Mga |
T |
A |
2: 119,776,800 (GRCm39) |
M1569K |
possibly damaging |
Het |
Mvk |
T |
C |
5: 114,588,840 (GRCm39) |
Y161H |
probably damaging |
Het |
Or10al3 |
T |
A |
17: 38,012,389 (GRCm39) |
M276K |
probably benign |
Het |
Or14c44 |
G |
T |
7: 86,061,987 (GRCm39) |
C139F |
probably damaging |
Het |
Or2n1 |
C |
A |
17: 38,486,464 (GRCm39) |
T163K |
probably damaging |
Het |
Pcdhb14 |
T |
A |
18: 37,583,075 (GRCm39) |
V727E |
possibly damaging |
Het |
Pcsk7 |
T |
G |
9: 45,821,707 (GRCm39) |
V167G |
probably damaging |
Het |
Plin5 |
T |
C |
17: 56,422,221 (GRCm39) |
D146G |
probably benign |
Het |
Plxna4 |
C |
T |
6: 32,188,000 (GRCm39) |
G879R |
possibly damaging |
Het |
Prss58 |
C |
T |
6: 40,872,594 (GRCm39) |
A171T |
probably benign |
Het |
Pum1 |
A |
G |
4: 130,499,231 (GRCm39) |
I1016V |
probably benign |
Het |
Rbm43 |
A |
G |
2: 51,816,712 (GRCm39) |
V85A |
probably damaging |
Het |
Rdh16f2 |
T |
A |
10: 127,712,864 (GRCm39) |
D287E |
probably damaging |
Het |
Rptor |
T |
A |
11: 119,702,812 (GRCm39) |
L393Q |
probably damaging |
Het |
Sbf2 |
T |
G |
7: 109,970,825 (GRCm39) |
H857P |
possibly damaging |
Het |
Scn8a |
A |
C |
15: 100,938,387 (GRCm39) |
T1919P |
probably benign |
Het |
Sema6b |
C |
T |
17: 56,434,084 (GRCm39) |
G377E |
probably damaging |
Het |
Senp7 |
T |
A |
16: 55,975,603 (GRCm39) |
D436E |
probably damaging |
Het |
Slc6a17 |
T |
A |
3: 107,380,901 (GRCm39) |
I535F |
probably benign |
Het |
Sptbn2 |
T |
A |
19: 4,779,158 (GRCm39) |
S281T |
possibly damaging |
Het |
Stt3b |
T |
C |
9: 115,083,999 (GRCm39) |
I392M |
probably damaging |
Het |
Tfap2b |
T |
C |
1: 19,296,660 (GRCm39) |
V201A |
possibly damaging |
Het |
Timm10b |
T |
C |
7: 105,289,876 (GRCm39) |
|
probably benign |
Het |
Ttc23 |
A |
C |
7: 67,312,135 (GRCm39) |
D14A |
probably damaging |
Het |
Usp32 |
A |
T |
11: 84,923,011 (GRCm39) |
L636I |
possibly damaging |
Het |
Vgll4 |
G |
T |
6: 114,867,613 (GRCm39) |
H79Q |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,818,858 (GRCm39) |
I3047T |
|
Het |
Zan |
T |
C |
5: 137,448,813 (GRCm39) |
E1680G |
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 |
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 |
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'- AGGGGAGTTCCAAAACATGC -3'
(R):5'- ACTGTGCCACCTGAACTACG -3'
Sequencing Primer
(F):5'- GTTCCAAAACATGCATAAACGTGTC -3'
(R):5'- TGAACTACGAAACCATGGCC -3'
|
Posted On |
2020-07-28 |