Incidental Mutation 'IGL02673:Chpf2'
| ID |
303026 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chpf2
|
| Ensembl Gene |
ENSMUSG00000038181 |
| Gene Name |
chondroitin polymerizing factor 2 |
| Synonyms |
2010209O12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
IGL02673
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
24791739-24799554 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24796302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 416
(R416Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030791]
[ENSMUST00000088295]
[ENSMUST00000121863]
[ENSMUST00000197318]
[ENSMUST00000195943]
|
| AlphaFold |
Q3UU43 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030791
|
| SMART Domains |
Protein: ENSMUSP00000030791
Gene: ENSMUSG00000028949
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
102 |
N/A |
INTRINSIC |
|
Blast:KISc
|
103 |
239 |
5e-41 |
BLAST |
|
SWIB
|
259 |
338 |
3.6e-29 |
SMART |
|
Blast:MYSc
|
420 |
466 |
1e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088295
AA Change: R416Q
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000085633
Gene: ENSMUSG00000038181
AA Change: R416Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Fringe
|
143 |
298 |
3.2e-11 |
PFAM |
|
Pfam:CHGN
|
242 |
755 |
1.7e-144 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121863
AA Change: R416Q
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112804
Gene: ENSMUSG00000038181
AA Change: R416Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Fringe
|
143 |
298 |
3.2e-11 |
PFAM |
|
Pfam:CHGN
|
242 |
755 |
3e-176 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140744
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198521
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144995
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197933
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145565
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197318
|
| SMART Domains |
Protein: ENSMUSP00000143185
Gene: ENSMUSG00000038181
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CHGN
|
1 |
74 |
7.5e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195943
|
| SMART Domains |
Protein: ENSMUSP00000143437
Gene: ENSMUSG00000028949
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
73 |
N/A |
INTRINSIC |
|
Blast:KISc
|
74 |
210 |
2e-41 |
BLAST |
|
SWIB
|
230 |
309 |
2.3e-31 |
SMART |
|
Blast:MYSc
|
391 |
437 |
8e-12 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
T |
A |
14: 70,395,056 (GRCm39) |
T33S |
probably benign |
Het |
| Abca4 |
T |
C |
3: 121,897,150 (GRCm39) |
Y610H |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,575,248 (GRCm39) |
C630S |
probably benign |
Het |
| Alkbh6 |
G |
T |
7: 30,013,536 (GRCm39) |
G202C |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,536,769 (GRCm39) |
M701L |
probably benign |
Het |
| Bpgm |
T |
A |
6: 34,464,769 (GRCm39) |
L162Q |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,368,149 (GRCm39) |
T592A |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
| Col18a1 |
C |
T |
10: 76,894,997 (GRCm39) |
G983D |
probably damaging |
Het |
| Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
| Cyp2a22 |
T |
G |
7: 26,637,525 (GRCm39) |
K157Q |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,574,974 (GRCm39) |
V668A |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,481,731 (GRCm39) |
V743E |
probably damaging |
Het |
| Fnbp4 |
C |
T |
2: 90,593,816 (GRCm39) |
T557M |
probably benign |
Het |
| Fzd5 |
C |
T |
1: 64,774,265 (GRCm39) |
E499K |
possibly damaging |
Het |
| Gm57858 |
A |
C |
3: 36,100,848 (GRCm39) |
|
probably benign |
Het |
| Il1r2 |
A |
G |
1: 40,154,323 (GRCm39) |
Y230C |
probably damaging |
Het |
| Insrr |
A |
C |
3: 87,720,368 (GRCm39) |
E1002A |
possibly damaging |
Het |
| Kdm4a |
C |
T |
4: 118,025,769 (GRCm39) |
D146N |
probably benign |
Het |
| Kidins220 |
G |
A |
12: 25,044,991 (GRCm39) |
V262M |
probably damaging |
Het |
| Kif26b |
C |
T |
1: 178,649,170 (GRCm39) |
P430L |
probably damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,460,066 (GRCm39) |
S62G |
probably benign |
Het |
| Mcu |
C |
A |
10: 59,303,466 (GRCm39) |
V124F |
probably damaging |
Het |
| Mlf1 |
A |
G |
3: 67,301,280 (GRCm39) |
M98V |
probably benign |
Het |
| Mogs |
T |
C |
6: 83,095,199 (GRCm39) |
V672A |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 77,900,512 (GRCm39) |
D609G |
probably damaging |
Het |
| Or1n1 |
C |
T |
2: 36,750,188 (GRCm39) |
M57I |
probably benign |
Het |
| Pdlim5 |
T |
A |
3: 142,058,548 (GRCm39) |
E65D |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,713,413 (GRCm39) |
N603S |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,790,257 (GRCm39) |
Y980C |
probably benign |
Het |
| Rack1 |
A |
G |
11: 48,691,357 (GRCm39) |
T23A |
probably benign |
Het |
| Rad50 |
A |
T |
11: 53,579,067 (GRCm39) |
I497K |
probably benign |
Het |
| Sin3a |
C |
A |
9: 57,014,725 (GRCm39) |
Q649K |
probably damaging |
Het |
| Sirt6 |
A |
G |
10: 81,461,671 (GRCm39) |
F46L |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,957,576 (GRCm39) |
I136N |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,452,794 (GRCm39) |
R2834H |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,475,709 (GRCm39) |
|
probably null |
Het |
| Sycp2 |
T |
A |
2: 178,036,004 (GRCm39) |
T228S |
possibly damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,070,207 (GRCm39) |
N785K |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,082 (GRCm39) |
Y187F |
possibly damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,005,318 (GRCm39) |
I318M |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,785,380 (GRCm39) |
L249P |
probably damaging |
Het |
| Zw10 |
T |
A |
9: 48,988,893 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Chpf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00850:Chpf2
|
APN |
5 |
24,797,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02110:Chpf2
|
APN |
5 |
24,796,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02625:Chpf2
|
APN |
5 |
24,796,709 (GRCm39) |
nonsense |
probably null |
|
|
Aloof
|
UTSW |
5 |
24,794,646 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
sine_nobilitate
|
UTSW |
5 |
24,795,310 (GRCm39) |
nonsense |
probably null |
|
|
stuffy
|
UTSW |
5 |
24,795,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0545:Chpf2
|
UTSW |
5 |
24,795,322 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0571:Chpf2
|
UTSW |
5 |
24,795,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0732:Chpf2
|
UTSW |
5 |
24,795,419 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R1196:Chpf2
|
UTSW |
5 |
24,794,646 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2051:Chpf2
|
UTSW |
5 |
24,796,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2057:Chpf2
|
UTSW |
5 |
24,796,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2147:Chpf2
|
UTSW |
5 |
24,797,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3719:Chpf2
|
UTSW |
5 |
24,795,310 (GRCm39) |
nonsense |
probably null |
|
|
R4168:Chpf2
|
UTSW |
5 |
24,796,788 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4632:Chpf2
|
UTSW |
5 |
24,796,829 (GRCm39) |
missense |
probably benign |
|
|
R5278:Chpf2
|
UTSW |
5 |
24,793,088 (GRCm39) |
intron |
probably benign |
|
|
R5481:Chpf2
|
UTSW |
5 |
24,794,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5853:Chpf2
|
UTSW |
5 |
24,797,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5914:Chpf2
|
UTSW |
5 |
24,797,421 (GRCm39) |
unclassified |
probably benign |
|
|
R6010:Chpf2
|
UTSW |
5 |
24,796,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6340:Chpf2
|
UTSW |
5 |
24,796,773 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6463:Chpf2
|
UTSW |
5 |
24,794,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8012:Chpf2
|
UTSW |
5 |
24,795,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8506:Chpf2
|
UTSW |
5 |
24,793,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8748:Chpf2
|
UTSW |
5 |
24,796,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9249:Chpf2
|
UTSW |
5 |
24,794,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9354:Chpf2
|
UTSW |
5 |
24,796,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Chpf2
|
UTSW |
5 |
24,796,517 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation