Incidental Mutation 'R4949:Clp1'
| ID |
383648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clp1
|
| Ensembl Gene |
ENSMUSG00000027079 |
| Gene Name |
CLP1, cleavage and polyadenylation factor I subunit |
| Synonyms |
|
| MMRRC Submission |
042546-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4949 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
84553466-84557631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 84554086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 361
(M361R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028475]
[ENSMUST00000165219]
|
| AlphaFold |
Q99LI9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028475
AA Change: M361R
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000028475
Gene: ENSMUSG00000027079
AA Change: M361R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLP1_N
|
15 |
107 |
1.7e-36 |
PFAM |
|
Pfam:CLP1_P
|
121 |
307 |
2e-79 |
PFAM |
|
Pfam:Clp1
|
312 |
423 |
1.3e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138231
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165219
AA Change: M361R
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129300
Gene: ENSMUSG00000027079
AA Change: M361R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
Pfam:MobB
|
115 |
230 |
5.7e-24 |
PFAM |
|
Pfam:Clp1
|
232 |
424 |
3e-62 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.3%
|
| Validation Efficiency |
|
| 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 Clp1 family. The encoded protein is a multifunctional kinase which is a component of the tRNA splicing endonuclease complex and a component of the pre-mRNA cleavage complex II. This protein is implicated in tRNA, mRNA, and siRNA maturation. Mutations in this gene are associated with pontocerebellar hypoplasia type 10 (PCH10). Alternatively splice transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a kinase dead allele exhibit background sensitive lethality, motor neuron degeneration, defects in diaphragm innervation, progressive muscle weakness and impaired pre-tRNA processing. Mice homozygous for a globally targeted allele exhibit complete embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Gene trapped(6) |
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,769,450 (GRCm39) |
V692A |
probably benign |
Het |
| Bcl2l13 |
G |
T |
6: 120,864,191 (GRCm39) |
G382W |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,557 (GRCm39) |
N353I |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,113,408 (GRCm39) |
S170P |
possibly damaging |
Het |
| Cylc2 |
A |
G |
4: 51,229,804 (GRCm39) |
K382R |
unknown |
Het |
| Dsg2 |
T |
A |
18: 20,723,241 (GRCm39) |
D422E |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Gm14295 |
A |
C |
2: 176,501,469 (GRCm39) |
T320P |
probably damaging |
Het |
| Ido2 |
T |
G |
8: 25,023,970 (GRCm39) |
|
probably null |
Het |
| Ift140 |
T |
A |
17: 25,313,639 (GRCm39) |
S1357T |
probably benign |
Het |
| Insr |
T |
G |
8: 3,235,059 (GRCm39) |
E145A |
probably benign |
Het |
| Itpripl1 |
A |
G |
2: 126,983,327 (GRCm39) |
M265T |
probably benign |
Het |
| Kcnb1 |
G |
T |
2: 166,947,521 (GRCm39) |
N442K |
probably damaging |
Het |
| Kifc5b |
C |
A |
17: 27,144,488 (GRCm39) |
R536S |
probably damaging |
Het |
| Klf6 |
A |
T |
13: 5,914,947 (GRCm39) |
S129C |
probably benign |
Het |
| Lpin2 |
C |
G |
17: 71,538,334 (GRCm39) |
P327A |
probably damaging |
Het |
| Lsm1 |
T |
C |
8: 26,292,065 (GRCm39) |
V114A |
probably benign |
Het |
| Map7d1 |
C |
T |
4: 126,128,846 (GRCm39) |
W218* |
probably null |
Het |
| N4bp2 |
T |
A |
5: 65,979,142 (GRCm39) |
|
probably null |
Het |
| Nt5el |
T |
A |
13: 105,246,214 (GRCm39) |
S258R |
probably damaging |
Het |
| Rheb |
A |
T |
5: 25,008,729 (GRCm39) |
I163K |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,101,897 (GRCm39) |
D113G |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,927,663 (GRCm39) |
N1381D |
probably damaging |
Het |
| Sdsl |
T |
A |
5: 120,597,870 (GRCm39) |
N208Y |
possibly damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,435,591 (GRCm39) |
N8S |
possibly damaging |
Het |
| Sox18 |
G |
A |
2: 181,313,017 (GRCm39) |
Q100* |
probably null |
Het |
| Taar8b |
C |
T |
10: 23,967,825 (GRCm39) |
C123Y |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
| Tes |
C |
A |
6: 17,100,359 (GRCm39) |
H331N |
probably benign |
Het |
| Tmbim1 |
T |
G |
1: 74,334,524 (GRCm39) |
D12A |
probably damaging |
Het |
| Tmprss4 |
T |
C |
9: 45,086,841 (GRCm39) |
I307V |
possibly damaging |
Het |
| Ttll1 |
A |
T |
15: 83,386,374 (GRCm39) |
M77K |
probably null |
Het |
| Ttpal |
G |
A |
2: 163,455,671 (GRCm39) |
R220Q |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,625 (GRCm39) |
H271Q |
probably benign |
Het |
| Vmn2r32 |
A |
G |
7: 7,467,083 (GRCm39) |
I815T |
probably benign |
Het |
|
| Other mutations in Clp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02725:Clp1
|
APN |
2 |
84,554,208 (GRCm39) |
missense |
probably benign |
0.36 |
|
D4186:Clp1
|
UTSW |
2 |
84,555,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0540:Clp1
|
UTSW |
2 |
84,555,935 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0607:Clp1
|
UTSW |
2 |
84,555,935 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1954:Clp1
|
UTSW |
2 |
84,554,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2908:Clp1
|
UTSW |
2 |
84,554,488 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4769:Clp1
|
UTSW |
2 |
84,556,219 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5568:Clp1
|
UTSW |
2 |
84,556,322 (GRCm39) |
nonsense |
probably null |
|
|
R7191:Clp1
|
UTSW |
2 |
84,554,490 (GRCm39) |
nonsense |
probably null |
|
|
R8341:Clp1
|
UTSW |
2 |
84,554,117 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9055:Clp1
|
UTSW |
2 |
84,554,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9220:Clp1
|
UTSW |
2 |
84,554,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9351:Clp1
|
UTSW |
2 |
84,554,195 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9366:Clp1
|
UTSW |
2 |
84,556,473 (GRCm39) |
missense |
probably benign |
|
|
R9768:Clp1
|
UTSW |
2 |
84,556,477 (GRCm39) |
start codon destroyed |
probably null |
0.86 |
|
Z1177:Clp1
|
UTSW |
2 |
84,556,307 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACCGGATATCCATGATGAGAAG -3'
(R):5'- AACGTTCCAAGGACTTCCGG -3'
Sequencing Primer
(F):5'- GAAAGTTCTTAGGCAATGGGC -3'
(R):5'- CGGGAATGTAGAGATGAACGTATCC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation