Incidental Mutation 'R5859:Chpf'
| ID |
506166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chpf
|
| Ensembl Gene |
ENSMUSG00000032997 |
| Gene Name |
chondroitin polymerizing factor |
| Synonyms |
1700028N03Rik, D1Bwg1363e |
| MMRRC Submission |
044071-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5859 (G1)
|
| Quality Score |
64 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75451213-75455951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75452072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 461
(F461I)
|
| 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 |
probably damaging
Transcript: ENSMUST00000079205
AA Change: F623I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078199
Gene: ENSMUSG00000032997
AA Change: F623I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
Pfam:CHGN
|
262 |
761 |
5e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094818
AA Change: F461I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092412
Gene: ENSMUSG00000032997
AA Change: F461I
| 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194916
|
| Meta Mutation Damage Score |
0.4982 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.9%
|
| Validation Efficiency |
93% (70/75) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,303,477 (GRCm39) |
V150E |
probably benign |
Het |
| Alg11 |
A |
G |
8: 22,555,857 (GRCm39) |
K373E |
probably benign |
Het |
| Arl14ep |
C |
T |
2: 106,799,398 (GRCm39) |
|
probably benign |
Het |
| Ascc2 |
G |
A |
11: 4,608,284 (GRCm39) |
G227R |
probably benign |
Het |
| Ash1l |
C |
T |
3: 88,976,300 (GRCm39) |
P2627S |
probably damaging |
Het |
| Btla |
T |
G |
16: 45,059,402 (GRCm39) |
|
probably null |
Het |
| Btnl10 |
C |
T |
11: 58,813,138 (GRCm39) |
P256S |
probably benign |
Het |
| Cep162 |
C |
T |
9: 87,086,145 (GRCm39) |
A1060T |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,852,386 (GRCm39) |
K907* |
probably null |
Het |
| Chrdl2 |
A |
G |
7: 99,670,114 (GRCm39) |
Y79C |
probably damaging |
Het |
| Copb2 |
G |
A |
9: 98,450,161 (GRCm39) |
C40Y |
probably benign |
Het |
| Cyfip1 |
T |
C |
7: 55,574,929 (GRCm39) |
L1060P |
probably damaging |
Het |
| Drg1 |
G |
A |
11: 3,209,273 (GRCm39) |
|
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,468,134 (GRCm39) |
D862G |
possibly damaging |
Het |
| Flii |
G |
T |
11: 60,607,137 (GRCm39) |
Y946* |
probably null |
Het |
| Glt8d2 |
T |
C |
10: 82,507,915 (GRCm39) |
M1V |
probably null |
Het |
| Gm21136 |
T |
A |
7: 38,567,165 (GRCm39) |
|
noncoding transcript |
Het |
| Gramd1c |
T |
C |
16: 43,812,454 (GRCm39) |
T393A |
possibly damaging |
Het |
| Gucy2d |
T |
A |
7: 98,101,090 (GRCm39) |
I471N |
probably benign |
Het |
| Hps3 |
G |
A |
3: 20,063,034 (GRCm39) |
T711M |
probably benign |
Het |
| Hs3st4 |
A |
T |
7: 123,582,831 (GRCm39) |
D143V |
probably benign |
Het |
| Kif17 |
T |
A |
4: 138,018,744 (GRCm39) |
M461K |
possibly damaging |
Het |
| Klhdc7a |
T |
A |
4: 139,694,885 (GRCm39) |
S21C |
probably damaging |
Het |
| Klk15 |
G |
A |
7: 43,587,800 (GRCm39) |
R76H |
probably benign |
Het |
| Lnpk |
G |
A |
2: 74,399,372 (GRCm39) |
T57I |
possibly damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,840,837 (GRCm39) |
V999A |
possibly damaging |
Het |
| Ltbr |
T |
C |
6: 125,289,771 (GRCm39) |
H141R |
probably damaging |
Het |
| Lvrn |
T |
C |
18: 47,026,816 (GRCm39) |
F805L |
probably damaging |
Het |
| Ms4a13 |
A |
T |
19: 11,161,280 (GRCm39) |
C86* |
probably null |
Het |
| Ncbp1 |
A |
G |
4: 46,163,026 (GRCm39) |
N480S |
probably benign |
Het |
| Nelfcd |
T |
G |
2: 174,268,856 (GRCm39) |
*592G |
probably null |
Het |
| Neurog2 |
T |
C |
3: 127,427,664 (GRCm39) |
V96A |
probably benign |
Het |
| Nod1 |
A |
T |
6: 54,907,162 (GRCm39) |
W902R |
probably benign |
Het |
| Or12d13 |
T |
C |
17: 37,647,260 (GRCm39) |
I288V |
possibly damaging |
Het |
| Or4k15c |
T |
A |
14: 50,321,484 (GRCm39) |
Y218F |
probably damaging |
Het |
| Or55b3 |
T |
C |
7: 102,126,957 (GRCm39) |
Y40C |
possibly damaging |
Het |
| Or6d13 |
T |
C |
6: 116,517,861 (GRCm39) |
L149P |
probably damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,140,336 (GRCm39) |
H655L |
probably damaging |
Het |
| Plpp7 |
A |
G |
2: 31,985,996 (GRCm39) |
E58G |
probably benign |
Het |
| Psph |
A |
T |
5: 129,867,685 (GRCm39) |
|
probably benign |
Het |
| Rab11fip1 |
A |
C |
8: 27,644,748 (GRCm39) |
S346A |
probably damaging |
Het |
| Rreb1 |
C |
A |
13: 38,131,384 (GRCm39) |
P1513T |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 38,131,385 (GRCm39) |
P1513L |
probably benign |
Het |
| Rsf1 |
C |
T |
7: 97,334,766 (GRCm39) |
R1300C |
probably damaging |
Het |
| Scap |
A |
G |
9: 110,203,115 (GRCm39) |
N263S |
probably benign |
Het |
| Sec24d |
A |
T |
3: 123,072,961 (GRCm39) |
|
probably benign |
Het |
| Slain2 |
T |
C |
5: 73,105,888 (GRCm39) |
|
probably benign |
Het |
| Slc6a18 |
G |
T |
13: 73,816,278 (GRCm39) |
T367N |
probably benign |
Het |
| Slk |
T |
A |
19: 47,597,481 (GRCm39) |
D96E |
probably benign |
Het |
| Spag5 |
G |
A |
11: 78,204,360 (GRCm39) |
V514I |
probably benign |
Het |
| St8sia2 |
T |
C |
7: 73,616,654 (GRCm39) |
D107G |
probably damaging |
Het |
| Tgfbr3 |
T |
A |
5: 107,288,381 (GRCm39) |
I427F |
probably benign |
Het |
| Tlr2 |
T |
G |
3: 83,743,810 (GRCm39) |
T758P |
possibly damaging |
Het |
| Tmem270 |
A |
G |
5: 134,931,738 (GRCm39) |
V68A |
probably benign |
Het |
| Vmn2r106 |
T |
A |
17: 20,505,583 (GRCm39) |
H37L |
possibly damaging |
Het |
| Vmn2r27 |
T |
G |
6: 124,177,647 (GRCm39) |
R452S |
probably damaging |
Het |
| Wdr5 |
A |
G |
2: 27,423,362 (GRCm39) |
Y252C |
probably damaging |
Het |
| Zswim9 |
C |
T |
7: 12,995,371 (GRCm39) |
V262M |
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 |
|
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'- ACTCGTACACATCCAGGCTC -3'
(R):5'- ACGTCTTCGCACCTGTCAAG -3'
Sequencing Primer
(F):5'- CGCCACATAGTCGGAGTTGTAG -3'
(R):5'- TGTCAAGGCCCACGTGG -3'
|
| Posted On |
2018-03-01 |
Incidental Mutation