Incidental Mutation 'R7952:Chpf'
| ID |
649593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chpf
|
| Ensembl Gene |
ENSMUSG00000032997 |
| Gene Name |
chondroitin polymerizing factor |
| Synonyms |
1700028N03Rik, D1Bwg1363e |
| MMRRC Submission |
045996-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7952 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75451213-75455951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75455586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 55
(N55S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078199
(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 |
probably benign
Transcript: ENSMUST00000079205
AA Change: N55S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000078199
Gene: ENSMUSG00000032997
AA Change: N55S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
Pfam:CHGN
|
262 |
761 |
5e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094818
|
| SMART Domains |
Protein: ENSMUSP00000092412
Gene: ENSMUSG00000032997
| 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 |
possibly damaging
Transcript: ENSMUST00000124042
AA Change: N55S
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122057
Gene: ENSMUSG00000032997
AA Change: N55S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138683
AA Change: N55S
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117253
Gene: ENSMUSG00000032997
AA Change: N55S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (47/48) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
T |
C |
1: 180,579,903 (GRCm39) |
S516P |
possibly damaging |
Het |
| Adora1 |
A |
G |
1: 134,131,024 (GRCm39) |
S216P |
possibly damaging |
Het |
| Arhgap17 |
G |
T |
7: 122,885,914 (GRCm39) |
S739R |
probably benign |
Het |
| Bphl |
A |
G |
13: 34,230,780 (GRCm39) |
T75A |
probably benign |
Het |
| Ccdc73 |
G |
A |
2: 104,775,801 (GRCm39) |
|
probably null |
Het |
| Cela3b |
T |
C |
4: 137,149,219 (GRCm39) |
I262V |
probably benign |
Het |
| Chst8 |
A |
G |
7: 34,374,919 (GRCm39) |
Y307H |
probably damaging |
Het |
| Cmtm2b |
G |
T |
8: 105,057,203 (GRCm39) |
E188* |
probably null |
Het |
| Cmya5 |
TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG |
TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG |
13: 93,233,512 (GRCm39) |
|
probably benign |
Het |
| Cxadr |
C |
T |
16: 78,131,123 (GRCm39) |
T213M |
possibly damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,703,096 (GRCm39) |
|
probably null |
Het |
| Dhx32 |
T |
C |
7: 133,350,725 (GRCm39) |
Y115C |
probably benign |
Het |
| Dop1b |
C |
A |
16: 93,546,848 (GRCm39) |
T284K |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,129,802 (GRCm39) |
V1732A |
possibly damaging |
Het |
| Egf |
C |
T |
3: 129,533,645 (GRCm39) |
R65Q |
probably damaging |
Het |
| Fat4 |
T |
G |
3: 38,945,870 (GRCm39) |
S1588A |
probably damaging |
Het |
| Fmnl3 |
A |
G |
15: 99,220,518 (GRCm39) |
V588A |
probably damaging |
Het |
| Galnt3 |
C |
T |
2: 65,928,186 (GRCm39) |
E237K |
probably benign |
Het |
| Grik2 |
T |
C |
10: 49,298,633 (GRCm39) |
I363V |
probably benign |
Het |
| Grik3 |
C |
T |
4: 125,598,340 (GRCm39) |
T769I |
probably damaging |
Het |
| Hpd |
A |
T |
5: 123,316,327 (GRCm39) |
D141E |
possibly damaging |
Het |
| Hrc |
A |
T |
7: 44,985,692 (GRCm39) |
D281V |
probably damaging |
Het |
| Igfn1 |
A |
T |
1: 135,891,693 (GRCm39) |
I2274K |
probably damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,005,677 (GRCm39) |
I502V |
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,266,493 (GRCm39) |
Q835L |
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,748,649 (GRCm39) |
G2892R |
unknown |
Het |
| Lama4 |
T |
G |
10: 38,906,486 (GRCm39) |
I284S |
probably benign |
Het |
| Madd |
C |
A |
2: 90,992,886 (GRCm39) |
G1011V |
probably damaging |
Het |
| Mroh2b |
T |
C |
15: 4,980,693 (GRCm39) |
F1421L |
probably damaging |
Het |
| Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
| Nedd9 |
C |
A |
13: 41,470,431 (GRCm39) |
D241Y |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,007,552 (GRCm39) |
V434A |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,433,781 (GRCm39) |
R108Q |
probably benign |
Het |
| Or10al2 |
T |
C |
17: 37,983,708 (GRCm39) |
Y265H |
probably damaging |
Het |
| Or51g1 |
A |
G |
7: 102,633,721 (GRCm39) |
F217L |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pramel41 |
T |
C |
5: 94,594,902 (GRCm39) |
V254A |
probably benign |
Het |
| Prss55 |
A |
G |
14: 64,313,132 (GRCm39) |
Y251H |
probably damaging |
Het |
| Rec8 |
T |
C |
14: 55,862,760 (GRCm39) |
V573A |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,661,313 (GRCm39) |
|
probably null |
Het |
| Sec31b |
A |
G |
19: 44,508,979 (GRCm39) |
S667P |
probably benign |
Het |
| Smim17 |
A |
G |
7: 6,427,849 (GRCm39) |
D45G |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,464,263 (GRCm39) |
T3906A |
probably damaging |
Het |
| Tanc2 |
G |
T |
11: 105,787,423 (GRCm39) |
G908W |
probably damaging |
Het |
| Tcf7l2 |
A |
T |
19: 55,886,989 (GRCm39) |
M1L |
probably benign |
Het |
| Tpx2 |
C |
T |
2: 152,735,514 (GRCm39) |
A714V |
probably damaging |
Het |
| Trgc4 |
T |
A |
13: 19,533,740 (GRCm39) |
S121R |
|
Het |
| Trmt1 |
G |
A |
8: 85,415,969 (GRCm39) |
R9H |
possibly damaging |
Het |
| Unc13a |
A |
T |
8: 72,111,131 (GRCm39) |
V360E |
possibly damaging |
Het |
| Vmn1r225 |
T |
A |
17: 20,722,589 (GRCm39) |
I10N |
probably damaging |
Het |
| Xkr4 |
A |
G |
1: 3,740,842 (GRCm39) |
S244P |
possibly damaging |
Het |
| Zkscan14 |
G |
T |
5: 145,132,708 (GRCm39) |
H274Q |
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 |
|
R5336:Chpf
|
UTSW |
1 |
75,452,351 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
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 |
|
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'- ATCGAGGCCCAAGGACTTCC -3'
(R):5'- GGCTTGAGCTCCTACCTCTG -3'
Sequencing Primer
(F):5'- TCCTTCCGGAGCCTGAC -3'
(R):5'- GAGCTCCTACCTCTGCTCGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation