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: 0.066)
|
| Stock # |
R8132 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
144822623-144849357 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144847174 bp (GRCm38)
|
| 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: 123,965,018 (GRCm38) |
A403T |
|
Het |
| Abhd16b |
G |
A |
2: 181,493,967 (GRCm38) |
A221T |
probably damaging |
Het |
| Arhgef1 |
C |
T |
7: 24,907,662 (GRCm38) |
|
probably benign |
Het |
| Arhgef1 |
C |
T |
7: 24,919,749 (GRCm38) |
Q472* |
probably null |
Het |
| Calr3 |
C |
T |
8: 72,427,179 (GRCm38) |
G298S |
probably damaging |
Het |
| Chrng |
A |
G |
1: 87,205,996 (GRCm38) |
T15A |
unknown |
Het |
| CK137956 |
T |
A |
4: 127,951,282 (GRCm38) |
K223* |
probably null |
Het |
| Cops7b |
G |
T |
1: 86,587,194 (GRCm38) |
G102V |
probably damaging |
Het |
| Dennd1a |
T |
A |
2: 37,858,060 (GRCm38) |
S382C |
probably damaging |
Het |
| Fdps |
G |
A |
3: 89,099,386 (GRCm38) |
Q66* |
probably null |
Het |
| Gemin4 |
T |
C |
11: 76,212,913 (GRCm38) |
T341A |
probably benign |
Het |
| Gm37596 |
G |
A |
3: 93,692,145 (GRCm38) |
Q306* |
probably null |
Het |
| Grk3 |
A |
G |
5: 112,961,489 (GRCm38) |
S201P |
unknown |
Het |
| Hgf |
C |
T |
5: 16,602,331 (GRCm38) |
T407I |
probably damaging |
Het |
| Hip1r |
C |
T |
5: 123,997,227 (GRCm38) |
R446C |
probably damaging |
Het |
| Hyal6 |
A |
T |
6: 24,740,828 (GRCm38) |
I327L |
possibly damaging |
Het |
| Ifna15 |
T |
C |
4: 88,557,683 (GRCm38) |
E188G |
possibly damaging |
Het |
| Igip |
A |
G |
18: 36,301,213 (GRCm38) |
S11G |
probably benign |
Het |
| Igkv5-39 |
A |
G |
6: 69,900,605 (GRCm38) |
Y56H |
probably damaging |
Het |
| Jph1 |
G |
A |
1: 17,016,155 (GRCm38) |
T381I |
probably damaging |
Het |
| Lrrc55 |
T |
C |
2: 85,191,915 (GRCm38) |
I311V |
probably benign |
Het |
| Mrps35 |
T |
A |
6: 147,048,163 (GRCm38) |
D58E |
probably benign |
Het |
| Ms4a4d |
C |
A |
19: 11,557,946 (GRCm38) |
P203T |
probably benign |
Het |
| Naip1 |
T |
G |
13: 100,437,375 (GRCm38) |
E225D |
possibly damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,444,347 (GRCm38) |
I989N |
possibly damaging |
Het |
| Nek3 |
A |
T |
8: 22,157,020 (GRCm38) |
Y166* |
probably null |
Het |
| Nphs1 |
A |
G |
7: 30,482,053 (GRCm38) |
E1169G |
probably benign |
Het |
| Nudt15 |
G |
A |
14: 73,521,659 (GRCm38) |
P123L |
probably benign |
Het |
| Olfr1491 |
G |
A |
19: 13,705,220 (GRCm38) |
C131Y |
probably damaging |
Het |
| Olfr160 |
C |
T |
9: 37,712,073 (GRCm38) |
V69M |
probably benign |
Het |
| Olfr204 |
T |
C |
16: 59,314,544 (GRCm38) |
I288V |
possibly damaging |
Het |
| Olfr427 |
T |
A |
1: 174,100,171 (GRCm38) |
S238T |
probably damaging |
Het |
| Olfr95 |
T |
A |
17: 37,211,316 (GRCm38) |
E179V |
probably damaging |
Het |
| Pcdha5 |
T |
C |
18: 36,960,641 (GRCm38) |
S68P |
possibly damaging |
Het |
| Plec |
G |
T |
15: 76,190,573 (GRCm38) |
A330E |
unknown |
Het |
| Rpa3 |
A |
C |
6: 8,256,790 (GRCm38) |
I63S |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,579,908 (GRCm38) |
|
probably benign |
Het |
| Snap25 |
A |
T |
2: 136,769,828 (GRCm38) |
K83N |
probably benign |
Het |
| Sos1 |
T |
G |
17: 80,408,602 (GRCm38) |
Q977P |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 70,381,302 (GRCm38) |
Y483C |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,422,995 (GRCm38) |
E2362G |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 110,255,877 (GRCm38) |
D128G |
probably damaging |
Het |
| Syngap1 |
G |
A |
17: 26,958,180 (GRCm38) |
M545I |
probably damaging |
Het |
| Tmem147 |
T |
C |
7: 30,728,447 (GRCm38) |
E110G |
probably damaging |
Het |
| Tmem156 |
T |
A |
5: 65,075,755 (GRCm38) |
I155F |
probably benign |
Het |
| Trim25 |
C |
A |
11: 89,016,606 (GRCm38) |
A597E |
probably damaging |
Het |
| Ttc7b |
T |
C |
12: 100,446,872 (GRCm38) |
Y229C |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,682,410 (GRCm38) |
Q1435L |
probably damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,423,217 (GRCm38) |
S23P |
probably benign |
Het |
| Zeb2 |
T |
A |
2: 44,989,130 (GRCm38) |
I1075F |
probably 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 |
144,846,931 (GRCm38) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- TCAGACTCCAGGCAAGAGAC -3'
(R):5'- GCAGGCATGAATTTGTACACATG -3'
Sequencing Primer
(F):5'- GACTTTACAAACTAGGACTGTCTCAC -3'
(R):5'- GGCATGAATTTGTACACATGAAAAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation