Incidental Mutation 'R4518:Chpf'
| ID |
334041 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chpf
|
| Ensembl Gene |
ENSMUSG00000032997 |
| Gene Name |
chondroitin polymerizing factor |
| Synonyms |
1700028N03Rik, D1Bwg1363e |
| MMRRC Submission |
041762-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4518 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75451213-75455951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 75451689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 588
(S588R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037708]
[ENSMUST00000050899]
[ENSMUST00000079205]
[ENSMUST00000094818]
[ENSMUST00000113575]
[ENSMUST00000113577]
[ENSMUST00000124042]
[ENSMUST00000138683]
[ENSMUST00000187411]
[ENSMUST00000148980]
|
| 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: S750R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078199
Gene: ENSMUSG00000032997
AA Change: S750R
| 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: S588R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092412
Gene: ENSMUSG00000032997
AA Change: S588R
| 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: 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 |
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 |
|
| Meta Mutation Damage Score |
0.7707 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (60/61) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082J24Rik |
T |
A |
5: 30,311,006 (GRCm39) |
|
probably null |
Het |
| Abr |
A |
G |
11: 76,363,344 (GRCm39) |
S167P |
possibly damaging |
Het |
| Adamtsl2 |
T |
C |
2: 26,985,559 (GRCm39) |
L481P |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,359,681 (GRCm39) |
M984I |
probably benign |
Het |
| Brip1 |
G |
A |
11: 85,968,704 (GRCm39) |
A827V |
possibly damaging |
Het |
| Carns1 |
T |
G |
19: 4,220,069 (GRCm39) |
T389P |
probably benign |
Het |
| Ccdc88a |
T |
C |
11: 29,432,651 (GRCm39) |
I1219T |
probably benign |
Het |
| Cckar |
T |
C |
5: 53,857,264 (GRCm39) |
N311S |
probably damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,195,446 (GRCm39) |
S108P |
possibly damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,514,466 (GRCm39) |
T414S |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,038,986 (GRCm39) |
E1092G |
probably damaging |
Het |
| Crb2 |
C |
A |
2: 37,680,401 (GRCm39) |
T443K |
probably damaging |
Het |
| Crppa |
G |
A |
12: 36,523,179 (GRCm39) |
V203I |
possibly damaging |
Het |
| Cwf19l1 |
A |
G |
19: 44,121,473 (GRCm39) |
V25A |
probably damaging |
Het |
| Cyb561d1 |
T |
C |
3: 108,106,887 (GRCm39) |
I111V |
possibly damaging |
Het |
| Dbn1 |
A |
T |
13: 55,624,042 (GRCm39) |
I350N |
possibly damaging |
Het |
| Dnajb4 |
T |
C |
3: 151,890,813 (GRCm39) |
I329V |
probably benign |
Het |
| Dnmt1 |
G |
T |
9: 20,823,274 (GRCm39) |
D1055E |
probably benign |
Het |
| Fam168a |
C |
T |
7: 100,483,247 (GRCm39) |
A176V |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,548,363 (GRCm39) |
E1016G |
probably benign |
Het |
| Fibcd1 |
A |
T |
2: 31,707,207 (GRCm39) |
V350E |
probably damaging |
Het |
| Galnt3 |
C |
A |
2: 65,923,954 (GRCm39) |
R438L |
probably damaging |
Het |
| Golga4 |
T |
A |
9: 118,388,076 (GRCm39) |
S1733T |
probably benign |
Het |
| Golgb1 |
G |
A |
16: 36,749,625 (GRCm39) |
E3076K |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 110,891,507 (GRCm39) |
|
probably null |
Het |
| Hcn2 |
T |
C |
10: 79,560,536 (GRCm39) |
V289A |
probably benign |
Het |
| Hipk1 |
G |
T |
3: 103,657,688 (GRCm39) |
H799N |
probably damaging |
Het |
| Klf14 |
A |
G |
6: 30,934,867 (GRCm39) |
S256P |
possibly damaging |
Het |
| Muc6 |
T |
A |
7: 141,230,489 (GRCm39) |
T1214S |
probably benign |
Het |
| Nlrp2 |
T |
A |
7: 5,328,055 (GRCm39) |
D666V |
possibly damaging |
Het |
| Ntng1 |
A |
G |
3: 109,842,329 (GRCm39) |
I148T |
probably damaging |
Het |
| Or4k35 |
T |
C |
2: 111,100,263 (GRCm39) |
M150V |
probably benign |
Het |
| Or7d9 |
A |
G |
9: 20,197,546 (GRCm39) |
I184V |
probably benign |
Het |
| Or7g27 |
T |
A |
9: 19,250,556 (GRCm39) |
S267T |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pacs2 |
A |
G |
12: 113,024,289 (GRCm39) |
D360G |
probably benign |
Het |
| Parp8 |
C |
A |
13: 117,032,209 (GRCm39) |
L321F |
possibly damaging |
Het |
| Pdss2 |
T |
A |
10: 43,248,146 (GRCm39) |
S217T |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,988 (GRCm39) |
S109G |
probably damaging |
Het |
| Prlr |
C |
A |
15: 10,329,085 (GRCm39) |
T520K |
possibly damaging |
Het |
| Prokr2 |
T |
A |
2: 132,216,012 (GRCm39) |
|
probably null |
Het |
| Rab3gap2 |
G |
A |
1: 184,999,265 (GRCm39) |
V991I |
probably benign |
Het |
| Reln |
T |
C |
5: 22,106,741 (GRCm39) |
I3210V |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,300,922 (GRCm39) |
Y218H |
probably damaging |
Het |
| Slc41a1 |
T |
C |
1: 131,766,863 (GRCm39) |
V127A |
probably damaging |
Het |
| St8sia6 |
T |
A |
2: 13,797,562 (GRCm39) |
|
probably null |
Het |
| Tlr6 |
A |
G |
5: 65,112,247 (GRCm39) |
F220S |
possibly damaging |
Het |
| Trmt1l |
C |
T |
1: 151,324,094 (GRCm39) |
Q314* |
probably null |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vnn3 |
G |
A |
10: 23,743,124 (GRCm39) |
V445M |
possibly damaging |
Het |
| Ypel1 |
A |
T |
16: 16,913,905 (GRCm39) |
F173I |
possibly damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,477,578 (GRCm39) |
C3398R |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,657,820 (GRCm39) |
E697G |
possibly 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 |
|
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 |
|
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'- CATGGGTCCAACAAAGCAAG -3'
(R):5'- TACAACTCCGACTATGTGGC -3'
Sequencing Primer
(F):5'- CAAGGGACCAGTGGGCTG -3'
(R):5'- ACTATGTGGCGGCCCGTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation