Incidental Mutation 'R1680:Clca3b'
| ID |
188397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca3b
|
| Ensembl Gene |
ENSMUSG00000037033 |
| Gene Name |
chloride channel accessory 3B |
| Synonyms |
Clca4 |
| MMRRC Submission |
039716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R1680 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
144528384-144555063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144543585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 415
(L415M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159989]
|
| AlphaFold |
E9PUL3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159989
AA Change: L415M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: L415M
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
C |
G |
10: 100,439,390 (GRCm39) |
P187R |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,987,327 (GRCm39) |
H2870Q |
probably benign |
Het |
| Arhgef33 |
C |
T |
17: 80,655,080 (GRCm39) |
S95F |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,106,521 (GRCm39) |
D827V |
probably damaging |
Het |
| Bcat1 |
T |
G |
6: 144,985,354 (GRCm39) |
D96A |
probably damaging |
Het |
| Birc6 |
A |
T |
17: 74,855,741 (GRCm39) |
I184L |
probably benign |
Het |
| Clstn1 |
T |
C |
4: 149,728,183 (GRCm39) |
V617A |
probably benign |
Het |
| Col22a1 |
G |
A |
15: 71,671,210 (GRCm39) |
A1050V |
unknown |
Het |
| Col5a3 |
C |
T |
9: 20,695,964 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
G |
A |
15: 47,604,566 (GRCm39) |
T1059I |
probably damaging |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dnm3 |
A |
G |
1: 161,838,545 (GRCm39) |
V272A |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,923,361 (GRCm39) |
Q187R |
probably damaging |
Het |
| Dpp9 |
A |
G |
17: 56,497,103 (GRCm39) |
Y710H |
probably benign |
Het |
| Eef1a2 |
A |
T |
2: 180,794,734 (GRCm39) |
M155K |
possibly damaging |
Het |
| Entpd8 |
G |
A |
2: 24,974,036 (GRCm39) |
C331Y |
probably damaging |
Het |
| Erc1 |
A |
C |
6: 119,552,722 (GRCm39) |
L1072R |
probably damaging |
Het |
| Fhip2b |
T |
C |
14: 70,824,291 (GRCm39) |
Y482C |
probably damaging |
Het |
| Gtf3c2 |
A |
G |
5: 31,331,212 (GRCm39) |
S155P |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,699,491 (GRCm39) |
S617P |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,753,567 (GRCm39) |
R840G |
probably benign |
Het |
| Il1rl2 |
T |
C |
1: 40,390,953 (GRCm39) |
Y299H |
possibly damaging |
Het |
| Ints7 |
T |
G |
1: 191,353,274 (GRCm39) |
|
probably null |
Het |
| Ireb2 |
C |
T |
9: 54,788,802 (GRCm39) |
T92I |
probably damaging |
Het |
| Itprid1 |
C |
T |
6: 55,945,751 (GRCm39) |
T824I |
probably damaging |
Het |
| Kcnj8 |
A |
T |
6: 142,515,915 (GRCm39) |
L64* |
probably null |
Het |
| Mapk8ip3 |
A |
G |
17: 25,119,985 (GRCm39) |
V983A |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,643,556 (GRCm39) |
D985G |
probably benign |
Het |
| Mical3 |
A |
T |
6: 120,936,604 (GRCm39) |
S1307R |
probably benign |
Het |
| Mtcl3 |
A |
T |
10: 29,072,835 (GRCm39) |
Q709L |
probably damaging |
Het |
| Ncaph2 |
A |
G |
15: 89,248,825 (GRCm39) |
D222G |
probably benign |
Het |
| Nf1 |
C |
A |
11: 79,441,824 (GRCm39) |
S295* |
probably null |
Het |
| Nlrp12 |
T |
A |
7: 3,289,804 (GRCm39) |
D236V |
probably damaging |
Het |
| Npnt |
A |
G |
3: 132,612,563 (GRCm39) |
V74A |
probably benign |
Het |
| Oasl1 |
A |
G |
5: 115,074,003 (GRCm39) |
D304G |
probably damaging |
Het |
| Or52i2 |
A |
G |
7: 102,319,940 (GRCm39) |
D271G |
possibly damaging |
Het |
| Or7g12 |
A |
G |
9: 18,899,812 (GRCm39) |
H176R |
possibly damaging |
Het |
| Or8g22 |
T |
C |
9: 38,958,296 (GRCm39) |
I140V |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,753,505 (GRCm39) |
V124I |
probably benign |
Het |
| Patz1 |
A |
G |
11: 3,257,812 (GRCm39) |
K604E |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,684,998 (GRCm39) |
V793E |
probably benign |
Het |
| Pla2g4d |
C |
T |
2: 120,108,231 (GRCm39) |
|
probably null |
Het |
| Plxnc1 |
A |
C |
10: 94,677,413 (GRCm39) |
L938R |
probably benign |
Het |
| Pou4f2 |
G |
T |
8: 79,161,460 (GRCm39) |
A381D |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,735,087 (GRCm39) |
L685P |
possibly damaging |
Het |
| Pxn |
T |
A |
5: 115,690,206 (GRCm39) |
V383E |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,016,703 (GRCm39) |
L632P |
probably damaging |
Het |
| Rnf135 |
T |
A |
11: 80,087,707 (GRCm39) |
S219T |
possibly damaging |
Het |
| Sdk2 |
T |
C |
11: 113,682,262 (GRCm39) |
D2039G |
possibly damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slc5a6 |
A |
G |
5: 31,199,988 (GRCm39) |
Y131H |
probably damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,145,391 (GRCm39) |
I492T |
probably damaging |
Het |
| Spag5 |
A |
G |
11: 78,211,442 (GRCm39) |
K993E |
probably damaging |
Het |
| Sptbn1 |
T |
G |
11: 30,109,371 (GRCm39) |
I75L |
possibly damaging |
Het |
| Syngap1 |
T |
C |
17: 27,171,553 (GRCm39) |
S46P |
possibly damaging |
Het |
| Tfcp2l1 |
T |
A |
1: 118,603,335 (GRCm39) |
F458I |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,087,840 (GRCm39) |
V102A |
probably benign |
Het |
| Tomm70a |
T |
C |
16: 56,942,324 (GRCm39) |
S34P |
unknown |
Het |
| Txlnb |
G |
T |
10: 17,718,981 (GRCm39) |
G604V |
probably benign |
Het |
| Ube2q1 |
A |
G |
3: 89,683,483 (GRCm39) |
T143A |
probably benign |
Het |
| Unc80 |
C |
T |
1: 66,542,828 (GRCm39) |
R361* |
probably null |
Het |
| Vcan |
T |
C |
13: 89,851,666 (GRCm39) |
D1098G |
probably benign |
Het |
| Vmn1r176 |
T |
A |
7: 23,534,806 (GRCm39) |
T116S |
probably damaging |
Het |
| Wdr81 |
C |
T |
11: 75,345,249 (GRCm39) |
R6K |
probably benign |
Het |
| Zan |
T |
A |
5: 137,401,312 (GRCm39) |
T4136S |
unknown |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp606 |
A |
T |
7: 12,227,898 (GRCm39) |
H615L |
probably damaging |
Het |
| Zp3r |
A |
T |
1: 130,510,617 (GRCm39) |
N433K |
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 |
|
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 |
|
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'- CCATGAGCCGTTGGTATACGGAAG -3'
(R):5'- ACTCTGAGGCAGAAGCCTAAGGAC -3'
Sequencing Primer
(F):5'- TTTGTGGAGAAAGATCATGTACGAC -3'
(R):5'- CTCCTCCAGGACTAAAGAAGTTTG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation