Incidental Mutation 'R7961:Clcc1'
| ID |
650102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcc1
|
| Ensembl Gene |
ENSMUSG00000027884 |
| Gene Name |
chloride channel CLIC-like 1 |
| Synonyms |
Mclc |
| MMRRC Submission |
046005-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7961 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108561229-108586156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108568774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 36
(N36S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029483]
[ENSMUST00000106609]
[ENSMUST00000106613]
[ENSMUST00000124384]
|
| AlphaFold |
Q99LI2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029483
AA Change: N31S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029483
Gene: ENSMUSG00000027884
AA Change: N31S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
3 |
539 |
2e-266 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106609
AA Change: N31S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102220
Gene: ENSMUSG00000027884
AA Change: N31S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
3 |
539 |
2e-266 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106613
AA Change: N36S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102224
Gene: ENSMUSG00000027884
AA Change: N36S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
8 |
544 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124384
AA Change: N31S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118529
Gene: ENSMUSG00000027884
AA Change: N31S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
3 |
84 |
4.2e-37 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
94% (44/47) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a spontaneous mutation show strain-dependent cerebellar granule cell death and peripheral motor axon degeneration. The peripheral neuropathy, neurogenic muscular atrophy and mild truncal ataxia observed on the C57BL/6J background is not found on the C3H/HeSnJ background. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(12) : Targeted(1) Gene trapped(11)
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,878,870 (GRCm39) |
N751K |
possibly damaging |
Het |
| Bckdha |
G |
A |
7: 25,330,903 (GRCm39) |
R288W |
probably damaging |
Het |
| Ccng1 |
G |
A |
11: 40,642,096 (GRCm39) |
H229Y |
probably benign |
Het |
| Cenpn |
C |
A |
8: 117,663,976 (GRCm39) |
T256N |
probably benign |
Het |
| Ciart |
A |
G |
3: 95,788,629 (GRCm39) |
V70A |
possibly damaging |
Het |
| Cntnap1 |
G |
A |
11: 101,069,121 (GRCm39) |
A192T |
probably benign |
Het |
| Dmrt1 |
T |
A |
19: 25,523,245 (GRCm39) |
S199T |
possibly damaging |
Het |
| Dmrt3 |
T |
C |
19: 25,588,272 (GRCm39) |
V37A |
possibly damaging |
Het |
| Dock1 |
T |
A |
7: 134,346,786 (GRCm39) |
D239E |
possibly damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,063,995 (GRCm39) |
|
probably null |
Het |
| Engase |
A |
G |
11: 118,377,686 (GRCm39) |
D571G |
possibly damaging |
Het |
| Gm45871 |
C |
T |
18: 90,609,883 (GRCm39) |
H374Y |
probably damaging |
Het |
| Icam5 |
T |
C |
9: 20,950,051 (GRCm39) |
V870A |
possibly damaging |
Het |
| Idh2 |
T |
C |
7: 79,748,001 (GRCm39) |
H233R |
probably benign |
Het |
| Kcna5 |
A |
G |
6: 126,510,517 (GRCm39) |
L537P |
probably benign |
Het |
| Krt71 |
T |
C |
15: 101,643,877 (GRCm39) |
I454V |
probably damaging |
Het |
| Krtap5-4 |
C |
T |
7: 141,857,671 (GRCm39) |
Q114* |
probably null |
Het |
| Loxl3 |
T |
C |
6: 83,027,790 (GRCm39) |
F734S |
possibly damaging |
Het |
| Lpcat1 |
C |
T |
13: 73,659,498 (GRCm39) |
T420I |
probably damaging |
Het |
| Mia2 |
T |
A |
12: 59,206,425 (GRCm39) |
|
probably null |
Het |
| Neurod4 |
A |
T |
10: 130,106,356 (GRCm39) |
V306D |
possibly damaging |
Het |
| Nkiras2 |
A |
T |
11: 100,510,628 (GRCm39) |
|
probably benign |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,103,076 (GRCm39) |
D408V |
probably benign |
Het |
| Nubpl |
T |
A |
12: 52,228,080 (GRCm39) |
L168* |
probably null |
Het |
| Odf1 |
A |
G |
15: 38,226,840 (GRCm39) |
I247V |
unknown |
Het |
| Or4c35 |
A |
G |
2: 89,808,131 (GRCm39) |
Q3R |
probably benign |
Het |
| Or4k48 |
G |
A |
2: 111,476,282 (GRCm39) |
S20F |
probably damaging |
Het |
| Or5d41 |
C |
A |
2: 88,055,033 (GRCm39) |
M114I |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,274,958 (GRCm39) |
S516P |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,294,293 (GRCm39) |
D1411G |
probably damaging |
Het |
| Polm |
T |
C |
11: 5,780,155 (GRCm39) |
D294G |
possibly damaging |
Het |
| Ppcs |
A |
T |
4: 119,276,262 (GRCm39) |
S281T |
probably benign |
Het |
| Pramel34 |
T |
C |
5: 93,784,543 (GRCm39) |
D307G |
probably damaging |
Het |
| Pspc1 |
G |
A |
14: 57,009,304 (GRCm39) |
Q177* |
probably null |
Het |
| Rbm33 |
G |
A |
5: 28,599,606 (GRCm39) |
G185R |
|
Het |
| Satb2 |
A |
G |
1: 56,910,917 (GRCm39) |
S243P |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,797,699 (GRCm39) |
|
probably null |
Het |
| Sgsm1 |
T |
C |
5: 113,430,510 (GRCm39) |
T292A |
probably damaging |
Het |
| Smad3 |
G |
A |
9: 63,557,564 (GRCm39) |
R420C |
possibly damaging |
Het |
| Sntg1 |
C |
T |
1: 8,433,794 (GRCm39) |
V486I |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,061,687 (GRCm39) |
S2610P |
possibly damaging |
Het |
| Tmem200a |
A |
G |
10: 25,869,904 (GRCm39) |
S122P |
probably damaging |
Het |
| Tnks2 |
T |
A |
19: 36,829,901 (GRCm39) |
M194K |
probably benign |
Het |
| Trav14d-3-dv8 |
A |
C |
14: 53,316,224 (GRCm39) |
Q28P |
probably damaging |
Het |
| Trpm5 |
T |
C |
7: 142,634,106 (GRCm39) |
E700G |
probably benign |
Het |
| Ubqln3 |
T |
A |
7: 103,791,797 (GRCm39) |
I98L |
probably benign |
Het |
| Usp25 |
A |
G |
16: 76,856,150 (GRCm39) |
I248V |
probably damaging |
Het |
| Vmn1r28 |
T |
C |
6: 58,242,178 (GRCm39) |
V7A |
probably benign |
Het |
| Zfp60 |
G |
A |
7: 27,447,881 (GRCm39) |
G183D |
probably benign |
Het |
|
| Other mutations in Clcc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01443:Clcc1
|
APN |
3 |
108,578,219 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01683:Clcc1
|
APN |
3 |
108,584,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02067:Clcc1
|
APN |
3 |
108,576,037 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02341:Clcc1
|
APN |
3 |
108,580,699 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
B6584:Clcc1
|
UTSW |
3 |
108,580,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0014:Clcc1
|
UTSW |
3 |
108,568,712 (GRCm39) |
nonsense |
probably null |
|
|
R0733:Clcc1
|
UTSW |
3 |
108,582,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1151:Clcc1
|
UTSW |
3 |
108,575,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1432:Clcc1
|
UTSW |
3 |
108,575,418 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3546:Clcc1
|
UTSW |
3 |
108,575,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3547:Clcc1
|
UTSW |
3 |
108,575,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3548:Clcc1
|
UTSW |
3 |
108,575,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3932:Clcc1
|
UTSW |
3 |
108,580,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4210:Clcc1
|
UTSW |
3 |
108,570,907 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4211:Clcc1
|
UTSW |
3 |
108,570,907 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4756:Clcc1
|
UTSW |
3 |
108,580,236 (GRCm39) |
splice site |
probably null |
|
|
R4856:Clcc1
|
UTSW |
3 |
108,584,154 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4886:Clcc1
|
UTSW |
3 |
108,584,154 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5858:Clcc1
|
UTSW |
3 |
108,568,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:Clcc1
|
UTSW |
3 |
108,580,624 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6301:Clcc1
|
UTSW |
3 |
108,580,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6414:Clcc1
|
UTSW |
3 |
108,584,167 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6944:Clcc1
|
UTSW |
3 |
108,578,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6965:Clcc1
|
UTSW |
3 |
108,580,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7331:Clcc1
|
UTSW |
3 |
108,575,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8009:Clcc1
|
UTSW |
3 |
108,568,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9313:Clcc1
|
UTSW |
3 |
108,581,976 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAAAGTGTTAGCTCTAGAAGG -3'
(R):5'- GCATGACAGCTAATCCATCGTTTG -3'
Sequencing Primer
(F):5'- AAGTGTTAGCTCTAGAAGGAAGTAG -3'
(R):5'- GACAGCTAATCCATCGTTTGTGACTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation