Incidental Mutation 'R3797:Clns1a'
| ID |
272796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clns1a
|
| Ensembl Gene |
ENSMUSG00000025439 |
| Gene Name |
chloride channel, nucleotide-sensitive, 1A |
| Synonyms |
2610100O04Rik, 2610036D06Rik, Clci, Clcni, ICLN |
| MMRRC Submission |
040758-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3797 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
97345864-97370000 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 97346042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 36
(G36R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026506]
[ENSMUST00000107153]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026506
AA Change: G36R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000026506
Gene: ENSMUSG00000025439
AA Change: G36R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Voldacs
|
40 |
168 |
1.2e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107153
|
| SMART Domains |
Protein: ENSMUSP00000102771
Gene: ENSMUSG00000035623
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
Pfam:WHIM1
|
88 |
138 |
2.2e-10 |
PFAM |
|
Pfam:WHIM2
|
140 |
172 |
9.4e-8 |
PFAM |
|
Pfam:WHIM3
|
178 |
398 |
2.5e-27 |
PFAM |
|
low complexity region
|
743 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
872 |
N/A |
INTRINSIC |
|
PHD
|
881 |
927 |
1.57e-11 |
SMART |
|
low complexity region
|
945 |
959 |
N/A |
INTRINSIC |
|
low complexity region
|
971 |
993 |
N/A |
INTRINSIC |
|
low complexity region
|
1011 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1072 |
1096 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1128 |
N/A |
INTRINSIC |
|
low complexity region
|
1133 |
1152 |
N/A |
INTRINSIC |
|
low complexity region
|
1160 |
1190 |
N/A |
INTRINSIC |
|
low complexity region
|
1192 |
1198 |
N/A |
INTRINSIC |
|
low complexity region
|
1234 |
1248 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147690
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155074
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small nuclear ribonucleoprotein biosynthesis, platelet activation and cytoskeletal organization. The protein is also found associated with the plasma membrane where it functions as a chloride current regulator. Pseudogenes of this gene are found on chromosomes 1, 4 and 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous mutants die between E3.5-E7.5. Heterozygous mutants appear normal and healthy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| B4galt1 |
G |
A |
4: 40,807,258 (GRCm39) |
T376I |
probably benign |
Het |
| Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
| Capn5 |
C |
T |
7: 97,775,036 (GRCm39) |
G535R |
probably null |
Het |
| Ccdc170 |
G |
A |
10: 4,510,920 (GRCm39) |
V660I |
possibly damaging |
Het |
| Cdc73 |
A |
T |
1: 143,553,461 (GRCm39) |
D215E |
probably benign |
Het |
| Clec14a |
G |
A |
12: 58,314,695 (GRCm39) |
A309V |
probably benign |
Het |
| Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
| Dsp |
T |
A |
13: 38,361,260 (GRCm39) |
|
probably null |
Het |
| Eif3d |
A |
G |
15: 77,852,769 (GRCm39) |
F4S |
probably damaging |
Het |
| Ephb1 |
T |
C |
9: 101,848,466 (GRCm39) |
T611A |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,127,204 (GRCm39) |
I683M |
possibly damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,323,934 (GRCm39) |
S32P |
probably benign |
Het |
| Limch1 |
A |
G |
5: 67,126,422 (GRCm39) |
T8A |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,669,625 (GRCm39) |
Q1455R |
probably damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,573,505 (GRCm39) |
E131G |
possibly damaging |
Het |
| Or51v14 |
C |
T |
7: 103,260,654 (GRCm39) |
R302Q |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,942,746 (GRCm39) |
I465V |
probably benign |
Het |
| Pcdhgb8 |
T |
C |
18: 37,895,728 (GRCm39) |
I266T |
probably benign |
Het |
| Pde4d |
T |
C |
13: 109,769,431 (GRCm39) |
S40P |
probably benign |
Het |
| Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
| Polk |
A |
T |
13: 96,623,490 (GRCm39) |
|
probably benign |
Het |
| Ppl |
T |
C |
16: 4,922,414 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,287,500 (GRCm39) |
C218R |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
| Skida1 |
C |
A |
2: 18,050,708 (GRCm39) |
E815* |
probably null |
Het |
| Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
| Svil |
T |
A |
18: 5,060,534 (GRCm39) |
C802S |
probably benign |
Het |
| Trim7 |
A |
G |
11: 48,736,497 (GRCm39) |
|
probably null |
Het |
| Ugt3a1 |
G |
A |
15: 9,310,727 (GRCm39) |
W336* |
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,723,311 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,862,602 (GRCm39) |
I590N |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
| Xpnpep1 |
A |
T |
19: 52,994,773 (GRCm39) |
V285D |
probably benign |
Het |
| Zfp934 |
T |
C |
13: 62,665,702 (GRCm39) |
K313R |
probably benign |
Het |
|
| Other mutations in Clns1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00808:Clns1a
|
APN |
7 |
97,365,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03209:Clns1a
|
APN |
7 |
97,360,937 (GRCm39) |
missense |
probably null |
0.05 |
|
R0234:Clns1a
|
UTSW |
7 |
97,363,239 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0234:Clns1a
|
UTSW |
7 |
97,363,239 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1087:Clns1a
|
UTSW |
7 |
97,354,862 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1844:Clns1a
|
UTSW |
7 |
97,346,066 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2119:Clns1a
|
UTSW |
7 |
97,363,111 (GRCm39) |
splice site |
probably null |
|
|
R4463:Clns1a
|
UTSW |
7 |
97,370,156 (GRCm39) |
unclassified |
probably benign |
|
|
R4810:Clns1a
|
UTSW |
7 |
97,363,224 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5574:Clns1a
|
UTSW |
7 |
97,370,165 (GRCm39) |
unclassified |
probably benign |
|
|
R6608:Clns1a
|
UTSW |
7 |
97,365,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7051:Clns1a
|
UTSW |
7 |
97,361,824 (GRCm39) |
splice site |
probably null |
|
|
R7384:Clns1a
|
UTSW |
7 |
97,345,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8183:Clns1a
|
UTSW |
7 |
97,354,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8770:Clns1a
|
UTSW |
7 |
97,363,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9131:Clns1a
|
UTSW |
7 |
97,363,125 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9328:Clns1a
|
UTSW |
7 |
97,363,240 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTGTTCTTCCGGGCTACG -3'
(R):5'- TGCAGACTCAAAACTCAACGTG -3'
Sequencing Primer
(F):5'- TACGACTACTGCTTCCGGG -3'
(R):5'- CCAGGCTTGCAGGAGACAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation