Incidental Mutation 'R8132:Clca3b'
| ID |
632059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca3b
|
| Ensembl Gene |
ENSMUSG00000037033 |
| Gene Name |
chloride channel accessory 3B |
| Synonyms |
Clca4 |
| MMRRC Submission |
067895-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R8132 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
144528384-144555063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144552935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 97
(S97T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159989]
|
| AlphaFold |
E9PUL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159989
AA Change: S97T
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: S97T
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,691,757 (GRCm39) |
A403T |
|
Het |
| Abhd16b |
G |
A |
2: 181,135,760 (GRCm39) |
A221T |
probably damaging |
Het |
| Arhgef1 |
C |
T |
7: 24,607,087 (GRCm39) |
|
probably benign |
Het |
| Arhgef1 |
C |
T |
7: 24,619,174 (GRCm39) |
Q472* |
probably null |
Het |
| Calr3 |
C |
T |
8: 73,181,023 (GRCm39) |
G298S |
probably damaging |
Het |
| Chrng |
A |
G |
1: 87,133,718 (GRCm39) |
T15A |
unknown |
Het |
| CK137956 |
T |
A |
4: 127,845,075 (GRCm39) |
K223* |
probably null |
Het |
| Cops7b |
G |
T |
1: 86,514,916 (GRCm39) |
G102V |
probably damaging |
Het |
| Dennd1a |
T |
A |
2: 37,748,072 (GRCm39) |
S382C |
probably damaging |
Het |
| Fdps |
G |
A |
3: 89,006,693 (GRCm39) |
Q66* |
probably null |
Het |
| Gemin4 |
T |
C |
11: 76,103,739 (GRCm39) |
T341A |
probably benign |
Het |
| Grk3 |
A |
G |
5: 113,109,355 (GRCm39) |
S201P |
unknown |
Het |
| Hgf |
C |
T |
5: 16,807,329 (GRCm39) |
T407I |
probably damaging |
Het |
| Hip1r |
C |
T |
5: 124,135,290 (GRCm39) |
R446C |
probably damaging |
Het |
| Hyal6 |
A |
T |
6: 24,740,827 (GRCm39) |
I327L |
possibly damaging |
Het |
| Ifna15 |
T |
C |
4: 88,475,920 (GRCm39) |
E188G |
possibly damaging |
Het |
| Igip |
A |
G |
18: 36,434,266 (GRCm39) |
S11G |
probably benign |
Het |
| Igkv5-39 |
A |
G |
6: 69,877,589 (GRCm39) |
Y56H |
probably damaging |
Het |
| Jph1 |
G |
A |
1: 17,086,379 (GRCm39) |
T381I |
probably damaging |
Het |
| Lrrc55 |
T |
C |
2: 85,022,259 (GRCm39) |
I311V |
probably benign |
Het |
| Mrps35 |
T |
A |
6: 146,949,661 (GRCm39) |
D58E |
probably benign |
Het |
| Ms4a4d |
C |
A |
19: 11,535,310 (GRCm39) |
P203T |
probably benign |
Het |
| Naip1 |
T |
G |
13: 100,573,883 (GRCm39) |
E225D |
possibly damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,407,967 (GRCm39) |
I989N |
possibly damaging |
Het |
| Nek3 |
A |
T |
8: 22,647,036 (GRCm39) |
Y166* |
probably null |
Het |
| Nphs1 |
A |
G |
7: 30,181,478 (GRCm39) |
E1169G |
probably benign |
Het |
| Nudt15 |
G |
A |
14: 73,759,099 (GRCm39) |
P123L |
probably benign |
Het |
| Or10c1 |
T |
A |
17: 37,522,207 (GRCm39) |
E179V |
probably damaging |
Het |
| Or10q1b |
G |
A |
19: 13,682,584 (GRCm39) |
C131Y |
probably damaging |
Het |
| Or5ac22 |
T |
C |
16: 59,134,907 (GRCm39) |
I288V |
possibly damaging |
Het |
| Or6k14 |
T |
A |
1: 173,927,737 (GRCm39) |
S238T |
probably damaging |
Het |
| Or8a1b |
C |
T |
9: 37,623,369 (GRCm39) |
V69M |
probably benign |
Het |
| Pcdha5 |
T |
C |
18: 37,093,694 (GRCm39) |
S68P |
possibly damaging |
Het |
| Plec |
G |
T |
15: 76,074,773 (GRCm39) |
A330E |
unknown |
Het |
| Rpa3 |
A |
C |
6: 8,256,790 (GRCm39) |
I63S |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Snap25 |
A |
T |
2: 136,611,748 (GRCm39) |
K83N |
probably benign |
Het |
| Sos1 |
T |
G |
17: 80,716,031 (GRCm39) |
Q977P |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 70,420,461 (GRCm39) |
Y483C |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,399,639 (GRCm39) |
E2362G |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 109,855,084 (GRCm39) |
D128G |
probably damaging |
Het |
| Syngap1 |
G |
A |
17: 27,177,154 (GRCm39) |
M545I |
probably damaging |
Het |
| Tdpoz6 |
G |
A |
3: 93,599,452 (GRCm39) |
Q306* |
probably null |
Het |
| Tmem147 |
T |
C |
7: 30,427,872 (GRCm39) |
E110G |
probably damaging |
Het |
| Tmem156 |
T |
A |
5: 65,233,098 (GRCm39) |
I155F |
probably benign |
Het |
| Trim25 |
C |
A |
11: 88,907,432 (GRCm39) |
A597E |
probably damaging |
Het |
| Ttc7b |
T |
C |
12: 100,413,131 (GRCm39) |
Y229C |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,558,154 (GRCm39) |
Q1435L |
probably damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,350,955 (GRCm39) |
S23P |
probably benign |
Het |
| Zeb2 |
T |
A |
2: 44,879,142 (GRCm39) |
I1075F |
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 |
|
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 |
|
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'- TCAGACTCCAGGCAAGAGAC -3'
(R):5'- GCAGGCATGAATTTGTACACATG -3'
Sequencing Primer
(F):5'- GACTTTACAAACTAGGACTGTCTCAC -3'
(R):5'- GGCATGAATTTGTACACATGAAAAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation