Incidental Mutation 'R3975:Clca1'
| ID |
312579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca1
|
| Ensembl Gene |
ENSMUSG00000028255 |
| Gene Name |
chloride channel accessory 1 |
| Synonyms |
gob-5, gob5, Clca3 |
| MMRRC Submission |
040939-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R3975 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
145003817-145032776 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 145032639 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 36
(V36D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029919]
|
| AlphaFold |
Q9D7Z6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029919
AA Change: V36D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029919
Gene: ENSMUSG00000028255
AA Change: V36D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
297 |
N/A |
INTRINSIC |
|
VWA
|
305 |
478 |
5.05e-19 |
SMART |
|
Blast:FN3
|
753 |
852 |
2e-28 |
BLAST |
|
| Meta Mutation Damage Score |
0.5036 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
95% (59/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit an exacerbated mucin response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
A |
1: 63,547,729 (GRCm38) |
Y416* |
probably null |
Het |
| Akr1b10 |
G |
T |
6: 34,392,496 (GRCm38) |
|
probably null |
Het |
| Arap2 |
G |
T |
5: 62,748,894 (GRCm38) |
P261T |
possibly damaging |
Het |
| Bckdha |
C |
A |
7: 25,631,433 (GRCm38) |
D53Y |
probably damaging |
Het |
| Bfsp2 |
A |
G |
9: 103,480,072 (GRCm38) |
V52A |
probably benign |
Het |
| Bola3 |
T |
C |
6: 83,351,267 (GRCm38) |
L45P |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,278,173 (GRCm38) |
|
probably null |
Het |
| Ceacam16 |
C |
A |
7: 19,853,612 (GRCm38) |
Q410H |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 135,235,225 (GRCm38) |
|
probably null |
Het |
| Cenpe |
T |
C |
3: 135,238,472 (GRCm38) |
|
probably null |
Het |
| Copa |
T |
A |
1: 172,121,245 (GRCm38) |
S1155T |
probably benign |
Het |
| Crb2 |
C |
A |
2: 37,793,668 (GRCm38) |
P1061T |
possibly damaging |
Het |
| Crot |
T |
C |
5: 8,977,541 (GRCm38) |
T264A |
probably benign |
Het |
| Cyp51 |
C |
T |
5: 4,091,877 (GRCm38) |
G346S |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,121,992 (GRCm38) |
S2027P |
possibly damaging |
Het |
| Fam129a |
T |
C |
1: 151,649,335 (GRCm38) |
Y164H |
probably damaging |
Het |
| Fbxo18 |
T |
C |
2: 11,767,210 (GRCm38) |
H220R |
possibly damaging |
Het |
| Gdf2 |
T |
A |
14: 33,944,834 (GRCm38) |
V171D |
probably damaging |
Het |
| Gm9825 |
A |
T |
6: 7,983,149 (GRCm38) |
|
noncoding transcript |
Het |
| Golgb1 |
T |
G |
16: 36,918,571 (GRCm38) |
V2424G |
probably damaging |
Het |
| Gpbp1l1 |
T |
C |
4: 116,570,985 (GRCm38) |
|
probably null |
Het |
| Gpx6 |
C |
A |
13: 21,317,658 (GRCm38) |
S150Y |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,522,247 (GRCm38) |
N672S |
possibly damaging |
Het |
| Kcnma1 |
C |
T |
14: 24,003,747 (GRCm38) |
|
probably null |
Het |
| Lrba |
T |
C |
3: 86,351,255 (GRCm38) |
F1350L |
probably damaging |
Het |
| Nat8f4 |
A |
G |
6: 85,901,070 (GRCm38) |
V157A |
possibly damaging |
Het |
| Nt5dc2 |
T |
C |
14: 31,138,875 (GRCm38) |
S439P |
probably damaging |
Het |
| Olfr1090 |
T |
A |
2: 86,754,543 (GRCm38) |
H65L |
probably damaging |
Het |
| Olfr134 |
A |
G |
17: 38,175,495 (GRCm38) |
N137S |
probably benign |
Het |
| Olfr141 |
G |
A |
2: 86,806,460 (GRCm38) |
P180S |
possibly damaging |
Het |
| Olfr693 |
T |
C |
7: 106,677,785 (GRCm38) |
R234G |
probably damaging |
Het |
| Orm3 |
A |
T |
4: 63,356,158 (GRCm38) |
|
probably null |
Het |
| Otof |
A |
G |
5: 30,370,712 (GRCm38) |
L1929P |
probably damaging |
Het |
| Pex5l |
C |
A |
3: 33,015,015 (GRCm38) |
C111F |
probably damaging |
Het |
| Plcl1 |
T |
A |
1: 55,698,215 (GRCm38) |
M905K |
probably benign |
Het |
| Prdm6 |
T |
C |
18: 53,540,206 (GRCm38) |
I186T |
possibly damaging |
Het |
| Rara |
T |
G |
11: 98,970,569 (GRCm38) |
I236S |
probably damaging |
Het |
| Reln |
A |
T |
5: 21,995,366 (GRCm38) |
S1379T |
possibly damaging |
Het |
| Rp1l1 |
T |
A |
14: 64,030,309 (GRCm38) |
Y1115N |
probably damaging |
Het |
| Rpe65 |
A |
T |
3: 159,604,585 (GRCm38) |
N135I |
probably damaging |
Het |
| Rps6 |
A |
G |
4: 86,856,813 (GRCm38) |
V18A |
probably benign |
Het |
| Scrn3 |
T |
C |
2: 73,335,777 (GRCm38) |
S385P |
possibly damaging |
Het |
| Sis |
T |
C |
3: 72,943,635 (GRCm38) |
T577A |
probably damaging |
Het |
| Slx1b |
G |
A |
7: 126,691,807 (GRCm38) |
L239F |
probably damaging |
Het |
| Smad4 |
G |
T |
18: 73,677,736 (GRCm38) |
T59K |
possibly damaging |
Het |
| Smad6 |
A |
G |
9: 64,020,930 (GRCm38) |
V32A |
probably benign |
Het |
| Smc6 |
T |
A |
12: 11,274,074 (GRCm38) |
F73L |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 45,772,710 (GRCm38) |
|
probably null |
Het |
| Svbp |
T |
A |
4: 119,195,893 (GRCm38) |
F32I |
probably benign |
Het |
| Tap1 |
C |
A |
17: 34,189,567 (GRCm38) |
|
probably benign |
Het |
| Tesk1 |
C |
T |
4: 43,445,786 (GRCm38) |
P280S |
possibly damaging |
Het |
| Thrb |
A |
G |
14: 18,033,456 (GRCm38) |
I406M |
probably damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,418,609 (GRCm38) |
S761P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,876,653 (GRCm38) |
|
probably benign |
Het |
| Umodl1 |
C |
A |
17: 30,984,789 (GRCm38) |
Y525* |
probably null |
Het |
| Vmn2r70 |
C |
T |
7: 85,559,332 (GRCm38) |
V646I |
probably benign |
Het |
| Wipf1 |
C |
T |
2: 73,437,169 (GRCm38) |
G295D |
probably benign |
Het |
| Wisp3 |
C |
G |
10: 39,155,098 (GRCm38) |
C143S |
probably damaging |
Het |
| Zim1 |
A |
T |
7: 6,677,130 (GRCm38) |
H511Q |
probably damaging |
Het |
|
| Other mutations in Clca1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00664:Clca1
|
APN |
3 |
145,027,899 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00862:Clca1
|
APN |
3 |
145,024,571 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL00895:Clca1
|
APN |
3 |
145,024,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00969:Clca1
|
APN |
3 |
145,008,958 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL01398:Clca1
|
APN |
3 |
145,016,751 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL01447:Clca1
|
APN |
3 |
145,007,778 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01455:Clca1
|
APN |
3 |
145,007,778 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01457:Clca1
|
APN |
3 |
145,007,778 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01458:Clca1
|
APN |
3 |
145,007,778 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01462:Clca1
|
APN |
3 |
145,007,778 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01473:Clca1
|
APN |
3 |
145,007,778 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01488:Clca1
|
APN |
3 |
145,007,778 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01490:Clca1
|
APN |
3 |
145,007,778 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01632:Clca1
|
APN |
3 |
145,027,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01896:Clca1
|
APN |
3 |
145,015,677 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
IGL02411:Clca1
|
APN |
3 |
145,028,002 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL03156:Clca1
|
APN |
3 |
145,013,911 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0472:Clca1
|
UTSW |
3 |
145,027,345 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0571:Clca1
|
UTSW |
3 |
145,007,789 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0585:Clca1
|
UTSW |
3 |
145,032,625 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0586:Clca1
|
UTSW |
3 |
145,032,589 (GRCm38) |
missense |
probably benign |
0.45 |
|
R0791:Clca1
|
UTSW |
3 |
145,004,854 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1187:Clca1
|
UTSW |
3 |
145,009,743 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1713:Clca1
|
UTSW |
3 |
145,024,546 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1739:Clca1
|
UTSW |
3 |
145,007,778 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2079:Clca1
|
UTSW |
3 |
145,007,773 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R2129:Clca1
|
UTSW |
3 |
145,016,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2178:Clca1
|
UTSW |
3 |
145,006,102 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2234:Clca1
|
UTSW |
3 |
145,009,068 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2235:Clca1
|
UTSW |
3 |
145,009,068 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2240:Clca1
|
UTSW |
3 |
145,008,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3751:Clca1
|
UTSW |
3 |
145,018,663 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3974:Clca1
|
UTSW |
3 |
145,032,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4409:Clca1
|
UTSW |
3 |
145,006,027 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4586:Clca1
|
UTSW |
3 |
145,016,858 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4751:Clca1
|
UTSW |
3 |
145,004,848 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4894:Clca1
|
UTSW |
3 |
145,013,901 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4909:Clca1
|
UTSW |
3 |
145,024,563 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4916:Clca1
|
UTSW |
3 |
145,015,844 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4941:Clca1
|
UTSW |
3 |
145,015,653 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4942:Clca1
|
UTSW |
3 |
145,004,763 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5044:Clca1
|
UTSW |
3 |
145,007,928 (GRCm38) |
splice site |
probably null |
|
|
R5451:Clca1
|
UTSW |
3 |
145,027,986 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5618:Clca1
|
UTSW |
3 |
145,004,977 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5724:Clca1
|
UTSW |
3 |
145,009,072 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5898:Clca1
|
UTSW |
3 |
145,016,761 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6238:Clca1
|
UTSW |
3 |
145,008,955 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6590:Clca1
|
UTSW |
3 |
145,013,883 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6591:Clca1
|
UTSW |
3 |
145,013,883 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6592:Clca1
|
UTSW |
3 |
145,013,883 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6690:Clca1
|
UTSW |
3 |
145,013,883 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6691:Clca1
|
UTSW |
3 |
145,013,883 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6729:Clca1
|
UTSW |
3 |
145,005,966 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6805:Clca1
|
UTSW |
3 |
145,018,667 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7106:Clca1
|
UTSW |
3 |
145,027,429 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7121:Clca1
|
UTSW |
3 |
145,011,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7127:Clca1
|
UTSW |
3 |
145,006,045 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7212:Clca1
|
UTSW |
3 |
145,005,966 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7444:Clca1
|
UTSW |
3 |
145,027,432 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7446:Clca1
|
UTSW |
3 |
145,027,427 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7535:Clca1
|
UTSW |
3 |
145,018,567 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8437:Clca1
|
UTSW |
3 |
145,005,061 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8474:Clca1
|
UTSW |
3 |
145,005,031 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8766:Clca1
|
UTSW |
3 |
145,009,178 (GRCm38) |
splice site |
probably benign |
|
|
R8884:Clca1
|
UTSW |
3 |
145,013,996 (GRCm38) |
missense |
probably benign |
0.35 |
|
R9049:Clca1
|
UTSW |
3 |
145,027,382 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9306:Clca1
|
UTSW |
3 |
145,024,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9623:Clca1
|
UTSW |
3 |
145,013,937 (GRCm38) |
missense |
probably benign |
0.03 |
|
X0020:Clca1
|
UTSW |
3 |
145,032,660 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
Z1176:Clca1
|
UTSW |
3 |
145,013,921 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAAGCAAGACGAATCATGTTC -3'
(R):5'- TCCAGTAAGTTGAGAAAACCACATC -3'
Sequencing Primer
(F):5'- GCAAGACGAATCATGTTCTCTTTATC -3'
(R):5'- GAGAAAACCACATCTACCTTGTGTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation