Incidental Mutation 'R5845:Clca3b'
ID |
453557 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clca3b
|
Ensembl Gene |
ENSMUSG00000037033 |
Gene Name |
chloride channel accessory 3B |
Synonyms |
Clca4 |
MMRRC Submission |
044063-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R5845 (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 144531077 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 758
(R758C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124581
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159989]
|
AlphaFold |
E9PUL3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159989
AA Change: R758C
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000124581 Gene: ENSMUSG00000037033 AA Change: R758C
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.3%
|
Validation Efficiency |
97% (59/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
A |
T |
5: 121,764,146 (GRCm39) |
Y928N |
probably benign |
Het |
Amz2 |
T |
C |
11: 109,324,755 (GRCm39) |
F213S |
probably damaging |
Het |
Cage1 |
T |
A |
13: 38,199,682 (GRCm39) |
S732C |
probably damaging |
Het |
Ccnf |
C |
A |
17: 24,459,767 (GRCm39) |
D229Y |
possibly damaging |
Het |
Cdon |
G |
T |
9: 35,368,762 (GRCm39) |
C332F |
probably damaging |
Het |
Cyp2ab1 |
C |
T |
16: 20,131,082 (GRCm39) |
R349H |
probably benign |
Het |
Dock10 |
C |
T |
1: 80,483,459 (GRCm39) |
|
probably benign |
Het |
Dock5 |
A |
T |
14: 68,078,550 (GRCm39) |
Y225N |
possibly damaging |
Het |
Ear2 |
G |
A |
14: 44,340,618 (GRCm39) |
R92K |
probably benign |
Het |
Eif3c |
T |
C |
7: 126,163,927 (GRCm39) |
S39G |
probably damaging |
Het |
Eml3 |
A |
G |
19: 8,916,582 (GRCm39) |
D701G |
probably damaging |
Het |
Fat3 |
G |
A |
9: 16,288,506 (GRCm39) |
T339I |
probably damaging |
Het |
Fbn2 |
T |
C |
18: 58,186,840 (GRCm39) |
D1687G |
possibly damaging |
Het |
Fcnb |
C |
T |
2: 27,969,633 (GRCm39) |
|
probably null |
Het |
Flacc1 |
T |
A |
1: 58,706,937 (GRCm39) |
E243D |
possibly damaging |
Het |
Fscb |
A |
G |
12: 64,519,558 (GRCm39) |
V636A |
unknown |
Het |
Gm6124 |
A |
G |
7: 38,869,299 (GRCm39) |
|
noncoding transcript |
Het |
Hectd4 |
T |
A |
5: 121,445,587 (GRCm39) |
|
probably null |
Het |
Hrnr |
A |
T |
3: 93,239,944 (GRCm39) |
H3394L |
unknown |
Het |
Hs1bp3 |
A |
G |
12: 8,386,275 (GRCm39) |
R226G |
probably benign |
Het |
Ifngr2 |
T |
C |
16: 91,351,947 (GRCm39) |
V61A |
probably benign |
Het |
Irag2 |
G |
A |
6: 145,117,392 (GRCm39) |
M376I |
probably benign |
Het |
Kcnk2 |
T |
C |
1: 189,009,918 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Mgam |
T |
A |
6: 40,652,257 (GRCm39) |
N810K |
possibly damaging |
Het |
Mis18a |
A |
G |
16: 90,518,522 (GRCm39) |
|
probably null |
Het |
Nsmce3 |
A |
G |
7: 64,521,936 (GRCm39) |
V244A |
possibly damaging |
Het |
Or10ag59 |
T |
C |
2: 87,406,367 (GRCm39) |
I313T |
probably benign |
Het |
Plxna4 |
A |
T |
6: 32,214,711 (GRCm39) |
V590D |
probably damaging |
Het |
Prkab1 |
A |
T |
5: 116,162,219 (GRCm39) |
D30E |
probably benign |
Het |
Rasgrp3 |
A |
T |
17: 75,810,142 (GRCm39) |
N281Y |
possibly damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Septin2 |
T |
A |
1: 93,426,757 (GRCm39) |
|
probably null |
Het |
Slc26a6 |
T |
G |
9: 108,739,282 (GRCm39) |
V609G |
possibly damaging |
Het |
Spta1 |
T |
A |
1: 174,068,662 (GRCm39) |
M2154K |
probably damaging |
Het |
Stoml2 |
T |
G |
4: 43,030,008 (GRCm39) |
|
probably benign |
Het |
Sult6b1 |
A |
C |
17: 79,202,059 (GRCm39) |
S148A |
probably damaging |
Het |
Tmem131l |
A |
G |
3: 83,847,860 (GRCm39) |
V335A |
probably damaging |
Het |
Tmem221 |
T |
A |
8: 72,007,788 (GRCm39) |
|
probably null |
Het |
Tmem88 |
C |
G |
11: 69,288,504 (GRCm39) |
Q138H |
probably benign |
Het |
Trpm8 |
T |
C |
1: 88,255,902 (GRCm39) |
Y186H |
probably benign |
Het |
Trpv1 |
T |
C |
11: 73,131,407 (GRCm39) |
I7T |
probably damaging |
Het |
Ttc34 |
T |
C |
4: 154,949,929 (GRCm39) |
S961P |
probably benign |
Het |
Ubr1 |
T |
C |
2: 120,734,486 (GRCm39) |
D1138G |
probably benign |
Het |
Ubr7 |
C |
T |
12: 102,732,571 (GRCm39) |
R188C |
probably damaging |
Het |
Uspl1 |
C |
T |
5: 149,130,770 (GRCm39) |
P118S |
probably benign |
Het |
Vdr |
C |
A |
15: 97,767,647 (GRCm39) |
E114D |
possibly damaging |
Het |
Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
Het |
Zswim4 |
T |
A |
8: 84,943,871 (GRCm39) |
|
probably null |
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 |
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'- GGCCAGCTTGTATCTTTTGAAG -3'
(R):5'- TTCAATATCTGCACTGAGTACCG -3'
Sequencing Primer
(F):5'- CCAGCTTGTATCTTTTGAAGTTTCAG -3'
(R):5'- TATCTGCACTGAGTACCGGCAAG -3'
|
Posted On |
2017-02-10 |