Incidental Mutation 'R5336:Chpf'
ID |
423507 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chpf
|
Ensembl Gene |
ENSMUSG00000032997 |
Gene Name |
chondroitin polymerizing factor |
Synonyms |
1700028N03Rik, D1Bwg1363e |
MMRRC Submission |
042844-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5336 (G1)
|
Quality Score |
202 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
75451213-75455951 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 75452351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 368
(A368S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092412
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037708]
[ENSMUST00000050899]
[ENSMUST00000079205]
[ENSMUST00000094818]
[ENSMUST00000113575]
[ENSMUST00000113577]
[ENSMUST00000124042]
[ENSMUST00000138683]
[ENSMUST00000148980]
[ENSMUST00000187411]
|
AlphaFold |
Q6IQX7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037708
|
SMART Domains |
Protein: ENSMUSP00000045598 Gene: ENSMUSG00000033007
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
Pfam:ASC
|
45 |
464 |
5.3e-92 |
PFAM |
low complexity region
|
507 |
533 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000050899
|
SMART Domains |
Protein: ENSMUSP00000057865 Gene: ENSMUSG00000051703
Domain | Start | End | E-Value | Type |
Pfam:DUF4203
|
40 |
236 |
7.2e-51 |
PFAM |
low complexity region
|
252 |
302 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079205
AA Change: A530S
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000078199 Gene: ENSMUSG00000032997 AA Change: A530S
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
Pfam:CHGN
|
262 |
761 |
5e-150 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094818
AA Change: A368S
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000092412 Gene: ENSMUSG00000032997 AA Change: A368S
Domain | Start | End | E-Value | Type |
Pfam:CHGN
|
100 |
599 |
3.3e-174 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113575
|
SMART Domains |
Protein: ENSMUSP00000109205 Gene: ENSMUSG00000051703
Domain | Start | End | E-Value | Type |
Pfam:DUF4203
|
39 |
237 |
2.2e-59 |
PFAM |
low complexity region
|
252 |
302 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113577
|
SMART Domains |
Protein: ENSMUSP00000109207 Gene: ENSMUSG00000033007
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
Pfam:ASC
|
45 |
346 |
5.5e-94 |
PFAM |
Pfam:ASC
|
344 |
446 |
1.4e-42 |
PFAM |
low complexity region
|
488 |
514 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124042
|
SMART Domains |
Protein: ENSMUSP00000122057 Gene: ENSMUSG00000032997
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143496
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194916
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156499
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138683
|
SMART Domains |
Protein: ENSMUSP00000117253 Gene: ENSMUSG00000032997
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148980
|
SMART Domains |
Protein: ENSMUSP00000116977 Gene: ENSMUSG00000051703
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
Pfam:DUF4203
|
119 |
150 |
6.6e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187411
|
SMART Domains |
Protein: ENSMUSP00000140795 Gene: ENSMUSG00000051703
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
Pfam:DUF4203
|
101 |
142 |
6.9e-10 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mice are viable and no detectable mutant phenotype is reported. Mice homozygous for another knock-out allele exhibit slight reduction in femur and tibia length. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
A |
T |
10: 29,100,495 (GRCm39) |
E289D |
probably damaging |
Het |
Acyp1 |
A |
T |
12: 85,326,785 (GRCm39) |
F80I |
probably damaging |
Het |
Anapc5 |
T |
C |
5: 122,945,400 (GRCm39) |
N226S |
probably damaging |
Het |
Ankhd1 |
T |
A |
18: 36,779,769 (GRCm39) |
S1704T |
probably damaging |
Het |
Btnl5-ps |
T |
C |
17: 34,711,371 (GRCm39) |
|
noncoding transcript |
Het |
Cacna1h |
T |
C |
17: 25,611,205 (GRCm39) |
H531R |
probably damaging |
Het |
Cntn4 |
T |
C |
6: 106,639,595 (GRCm39) |
V575A |
possibly damaging |
Het |
Col5a3 |
A |
T |
9: 20,710,597 (GRCm39) |
F551I |
unknown |
Het |
Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
Dcxr |
A |
G |
11: 120,618,002 (GRCm39) |
|
probably null |
Het |
Ddost |
T |
C |
4: 138,036,741 (GRCm39) |
Y147H |
possibly damaging |
Het |
Eif2ak2 |
A |
G |
17: 79,181,472 (GRCm39) |
F92L |
probably benign |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
H2-T23 |
T |
A |
17: 36,342,550 (GRCm39) |
N196I |
possibly damaging |
Het |
Ighv9-2 |
A |
C |
12: 114,072,905 (GRCm39) |
F23V |
probably benign |
Het |
Igsf10 |
T |
C |
3: 59,227,553 (GRCm39) |
E2040G |
probably damaging |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,150,017 (GRCm39) |
|
probably null |
Het |
Nlrp2 |
T |
C |
7: 5,331,118 (GRCm39) |
D426G |
probably benign |
Het |
Or1a1 |
T |
C |
11: 74,086,859 (GRCm39) |
F177L |
probably damaging |
Het |
Otof |
T |
C |
5: 30,534,064 (GRCm39) |
D1415G |
probably benign |
Het |
Ppig |
T |
C |
2: 69,580,568 (GRCm39) |
S701P |
unknown |
Het |
Ptprf |
A |
G |
4: 118,092,831 (GRCm39) |
I528T |
probably damaging |
Het |
Scara3 |
A |
G |
14: 66,168,487 (GRCm39) |
Y377H |
probably damaging |
Het |
Slf1 |
A |
T |
13: 77,254,129 (GRCm39) |
*176R |
probably null |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Tarm1 |
T |
C |
7: 3,546,084 (GRCm39) |
Y61C |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,432,103 (GRCm39) |
|
probably null |
Het |
Tlr1 |
A |
T |
5: 65,083,145 (GRCm39) |
N477K |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,019,664 (GRCm39) |
T518M |
probably damaging |
Het |
Trim50 |
C |
T |
5: 135,396,330 (GRCm39) |
T426M |
probably damaging |
Het |
Vmn2r85 |
T |
C |
10: 130,258,574 (GRCm39) |
I494V |
possibly damaging |
Het |
Wdr17 |
T |
A |
8: 55,085,353 (GRCm39) |
I1257F |
probably damaging |
Het |
Zfp874a |
T |
C |
13: 67,590,799 (GRCm39) |
H295R |
probably damaging |
Het |
|
Other mutations in Chpf |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0659:Chpf
|
UTSW |
1 |
75,454,367 (GRCm39) |
missense |
probably damaging |
0.98 |
R0789:Chpf
|
UTSW |
1 |
75,452,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R1610:Chpf
|
UTSW |
1 |
75,453,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R2384:Chpf
|
UTSW |
1 |
75,451,753 (GRCm39) |
missense |
probably benign |
|
R3937:Chpf
|
UTSW |
1 |
75,454,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R4518:Chpf
|
UTSW |
1 |
75,451,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R5859:Chpf
|
UTSW |
1 |
75,452,072 (GRCm39) |
missense |
probably damaging |
0.99 |
R6152:Chpf
|
UTSW |
1 |
75,452,287 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7304:Chpf
|
UTSW |
1 |
75,455,698 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7396:Chpf
|
UTSW |
1 |
75,451,927 (GRCm39) |
missense |
probably benign |
0.02 |
R7440:Chpf
|
UTSW |
1 |
75,452,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R7840:Chpf
|
UTSW |
1 |
75,453,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R7843:Chpf
|
UTSW |
1 |
75,454,931 (GRCm39) |
unclassified |
probably benign |
|
R7891:Chpf
|
UTSW |
1 |
75,451,939 (GRCm39) |
missense |
probably benign |
0.00 |
R7952:Chpf
|
UTSW |
1 |
75,455,586 (GRCm39) |
missense |
probably benign |
0.00 |
R7979:Chpf
|
UTSW |
1 |
75,453,904 (GRCm39) |
nonsense |
probably null |
|
R8159:Chpf
|
UTSW |
1 |
75,455,436 (GRCm39) |
missense |
probably null |
1.00 |
R8399:Chpf
|
UTSW |
1 |
75,452,864 (GRCm39) |
missense |
probably benign |
0.10 |
R8960:Chpf
|
UTSW |
1 |
75,452,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R9453:Chpf
|
UTSW |
1 |
75,452,854 (GRCm39) |
missense |
probably benign |
0.23 |
Z1176:Chpf
|
UTSW |
1 |
75,452,114 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Chpf
|
UTSW |
1 |
75,452,102 (GRCm39) |
missense |
probably benign |
0.08 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGACAGCAGATCCATGAGAC -3'
(R):5'- ACACTAGACCTGCAGCTGGAAG -3'
Sequencing Primer
(F):5'- AGAGGGCGCTGCTGTCTG -3'
(R):5'- TGGAAGCGCTGACACCC -3'
|
Posted On |
2016-08-04 |