Incidental Mutation 'R7979:Chpf'
| ID |
651059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chpf
|
| Ensembl Gene |
ENSMUSG00000032997 |
| Gene Name |
chondroitin polymerizing factor |
| Synonyms |
1700028N03Rik, D1Bwg1363e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7979 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75451213-75455951 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 75453904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 291
(C291*)
|
| 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 null
Transcript: ENSMUST00000079205
AA Change: C291*
|
| SMART Domains |
Protein: ENSMUSP00000078199
Gene: ENSMUSG00000032997
AA Change: C291*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
Pfam:CHGN
|
262 |
761 |
5e-150 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000094818
AA Change: C129*
|
| SMART Domains |
Protein: ENSMUSP00000092412
Gene: ENSMUSG00000032997
AA Change: C129*
| 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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
T |
5: 8,186,804 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
T |
19: 8,988,796 (GRCm39) |
D3360V |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,100,381 (GRCm39) |
L2681P |
probably benign |
Het |
| Ankrd52 |
C |
A |
10: 128,217,857 (GRCm39) |
A279E |
probably damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,760,978 (GRCm39) |
L78P |
unknown |
Het |
| Cfap300 |
T |
A |
9: 8,027,111 (GRCm39) |
E142D |
possibly damaging |
Het |
| Cr1l |
T |
C |
1: 194,800,030 (GRCm39) |
T215A |
probably damaging |
Het |
| Ctc1 |
A |
T |
11: 68,918,209 (GRCm39) |
K444* |
probably null |
Het |
| Dscaml1 |
T |
C |
9: 45,595,029 (GRCm39) |
S711P |
probably damaging |
Het |
| Elavl4 |
A |
T |
4: 110,068,845 (GRCm39) |
V176D |
probably benign |
Het |
| Faim2 |
A |
G |
15: 99,408,515 (GRCm39) |
V251A |
possibly damaging |
Het |
| Fancg |
A |
G |
4: 43,004,963 (GRCm39) |
I410T |
probably damaging |
Het |
| Frmd3 |
G |
A |
4: 74,071,852 (GRCm39) |
V245I |
probably damaging |
Het |
| Gls |
T |
C |
1: 52,230,271 (GRCm39) |
H480R |
probably damaging |
Het |
| Gm30191 |
A |
G |
4: 133,977,223 (GRCm39) |
D145G |
possibly damaging |
Het |
| Grik2 |
T |
C |
10: 49,280,438 (GRCm39) |
I438V |
probably benign |
Het |
| Klhl3 |
G |
T |
13: 58,211,611 (GRCm39) |
Q197K |
probably benign |
Het |
| Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
| Mmp23 |
G |
A |
4: 155,736,462 (GRCm39) |
T193I |
possibly damaging |
Het |
| Mmrn1 |
T |
C |
6: 60,952,961 (GRCm39) |
V414A |
probably damaging |
Het |
| Mmrn2 |
C |
T |
14: 34,118,138 (GRCm39) |
Q61* |
probably null |
Het |
| Mprip |
G |
A |
11: 59,657,682 (GRCm39) |
R852H |
probably damaging |
Het |
| Nars2 |
A |
C |
7: 96,711,868 (GRCm39) |
N461T |
probably damaging |
Het |
| Nomo1 |
A |
G |
7: 45,690,986 (GRCm39) |
N124S |
probably null |
Het |
| Or1e17 |
G |
T |
11: 73,831,401 (GRCm39) |
V110F |
probably benign |
Het |
| Or1j17 |
A |
G |
2: 36,578,106 (GRCm39) |
I31V |
probably benign |
Het |
| Peak1 |
T |
A |
9: 56,114,676 (GRCm39) |
N1422Y |
possibly damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pfkm |
G |
A |
15: 98,026,117 (GRCm39) |
E571K |
probably damaging |
Het |
| Ptpn2 |
A |
T |
18: 67,814,641 (GRCm39) |
C123S |
possibly damaging |
Het |
| Raph1 |
G |
A |
1: 60,565,148 (GRCm39) |
T113I |
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,334,920 (GRCm39) |
E1351G |
|
Het |
| Serinc4 |
C |
T |
2: 121,285,793 (GRCm39) |
V163I |
probably benign |
Het |
| Slc7a2 |
G |
T |
8: 41,357,541 (GRCm39) |
G270C |
probably damaging |
Het |
| Smc2 |
G |
A |
4: 52,450,857 (GRCm39) |
R225Q |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,601 (GRCm39) |
S144P |
probably damaging |
Het |
| Tcl1b4 |
A |
T |
12: 105,168,865 (GRCm39) |
H43L |
probably benign |
Het |
| Tmem156 |
T |
C |
5: 65,237,352 (GRCm39) |
T103A |
possibly damaging |
Het |
| Tns3 |
A |
T |
11: 8,442,701 (GRCm39) |
M554K |
probably benign |
Het |
| Tpp2 |
A |
T |
1: 43,979,297 (GRCm39) |
I65F |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,206,967 (GRCm39) |
M1700K |
probably benign |
Het |
| Ttc39c |
T |
A |
18: 12,866,022 (GRCm39) |
H473Q |
probably benign |
Het |
| Vmn2r68 |
A |
C |
7: 84,883,625 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
T |
C |
6: 120,014,409 (GRCm39) |
D62G |
probably damaging |
Het |
| Wnk2 |
A |
T |
13: 49,248,884 (GRCm39) |
M389K |
probably damaging |
Het |
| Zfp292 |
G |
A |
4: 34,809,198 (GRCm39) |
T1287M |
probably benign |
Het |
| Zfp451 |
G |
A |
1: 33,821,219 (GRCm39) |
S211L |
probably benign |
Het |
| Zfp710 |
T |
C |
7: 79,738,327 (GRCm39) |
S626P |
unknown |
Het |
| Zfp787 |
C |
T |
7: 6,146,094 (GRCm39) |
E16K |
probably damaging |
Het |
| Zfp788 |
G |
T |
7: 41,284,324 (GRCm39) |
|
probably null |
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 |
|
R7952:Chpf
|
UTSW |
1 |
75,455,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- AATCCTTATACGGCCCTGCC -3'
(R):5'- ATCGGTGGAGATACTACCCC -3'
Sequencing Primer
(F):5'- TTCCATTAGCATGCACGAGG -3'
(R):5'- TGGAGATACTACCCCAGGCC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation