Incidental Mutation 'IGL02625:Chpf2'
ID |
301031 |
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: 0.089)
|
Stock # |
IGL02625
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
24791739-24799554 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 24796709 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 552
(E552*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112804
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030791]
[ENSMUST00000088295]
[ENSMUST00000121863]
[ENSMUST00000195943]
[ENSMUST00000197318]
|
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 null
Transcript: ENSMUST00000088295
AA Change: E552*
|
SMART Domains |
Protein: ENSMUSP00000085633 Gene: ENSMUSG00000038181 AA Change: E552*
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 null
Transcript: ENSMUST00000121863
AA Change: E552*
|
SMART Domains |
Protein: ENSMUSP00000112804 Gene: ENSMUSG00000038181 AA Change: E552*
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: ENSMUST00000197566
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197933
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145565
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198521
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144995
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147857
|
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 |
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg6 |
T |
A |
4: 99,634,584 (GRCm39) |
C109S |
probably damaging |
Het |
Arhgdia |
C |
A |
11: 120,471,039 (GRCm39) |
E53D |
probably benign |
Het |
Ccr4 |
A |
C |
9: 114,321,401 (GRCm39) |
C221W |
probably damaging |
Het |
Ces2a |
G |
A |
8: 105,466,910 (GRCm39) |
|
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnmt1 |
C |
T |
9: 20,838,442 (GRCm39) |
R207H |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,451,168 (GRCm39) |
|
probably null |
Het |
Esr1 |
A |
T |
10: 4,951,346 (GRCm39) |
T575S |
probably benign |
Het |
Fancc |
A |
G |
13: 63,545,965 (GRCm39) |
C93R |
probably damaging |
Het |
Foxj3 |
A |
T |
4: 119,482,114 (GRCm39) |
R523W |
unknown |
Het |
Fryl |
C |
T |
5: 73,227,220 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
A |
C |
2: 82,779,836 (GRCm39) |
H194P |
probably benign |
Het |
Gaa |
G |
A |
11: 119,165,559 (GRCm39) |
V350I |
probably damaging |
Het |
Gpn3 |
T |
A |
5: 122,519,257 (GRCm39) |
I152N |
probably damaging |
Het |
H2-M10.3 |
T |
A |
17: 36,678,417 (GRCm39) |
H136L |
probably benign |
Het |
H4c16 |
C |
T |
6: 136,781,335 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,239,953 (GRCm39) |
D507G |
probably damaging |
Het |
Jcad |
A |
G |
18: 4,674,422 (GRCm39) |
E728G |
probably benign |
Het |
Kat14 |
G |
A |
2: 144,244,365 (GRCm39) |
R406H |
possibly damaging |
Het |
Kcnma1 |
G |
T |
14: 23,413,900 (GRCm39) |
D863E |
probably damaging |
Het |
Lrp1 |
A |
G |
10: 127,410,355 (GRCm39) |
Y1464H |
probably damaging |
Het |
Map4 |
T |
C |
9: 109,893,485 (GRCm39) |
S584P |
probably damaging |
Het |
Nlrp4f |
G |
A |
13: 65,347,085 (GRCm39) |
L58F |
probably damaging |
Het |
Nlrp6 |
A |
G |
7: 140,503,413 (GRCm39) |
I506M |
probably benign |
Het |
Nudt17 |
G |
A |
3: 96,613,780 (GRCm39) |
R266W |
probably damaging |
Het |
Or4a47 |
A |
G |
2: 89,665,740 (GRCm39) |
L183P |
probably damaging |
Het |
Or4a69 |
A |
G |
2: 89,313,018 (GRCm39) |
S154P |
probably damaging |
Het |
Or52h9 |
A |
G |
7: 104,202,780 (GRCm39) |
Y218C |
probably damaging |
Het |
Plcb4 |
A |
G |
2: 135,803,714 (GRCm39) |
E529G |
probably benign |
Het |
Prss32 |
A |
T |
17: 24,075,210 (GRCm39) |
I187F |
possibly damaging |
Het |
Prss55 |
A |
T |
14: 64,316,818 (GRCm39) |
I108K |
probably damaging |
Het |
Rcl1 |
A |
G |
19: 29,095,741 (GRCm39) |
M109V |
probably benign |
Het |
Rho |
A |
T |
6: 115,912,158 (GRCm39) |
M207L |
possibly damaging |
Het |
Slc12a1 |
A |
G |
2: 125,012,611 (GRCm39) |
D291G |
probably damaging |
Het |
Slco2b1 |
A |
C |
7: 99,309,330 (GRCm39) |
|
probably null |
Het |
Stx11 |
T |
A |
10: 12,817,661 (GRCm39) |
D21V |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,115,807 (GRCm39) |
Y962F |
possibly damaging |
Het |
Tbx5 |
G |
T |
5: 119,974,972 (GRCm39) |
|
probably benign |
Het |
Tcf12 |
C |
A |
9: 71,830,039 (GRCm39) |
G141W |
probably damaging |
Het |
Tmtc2 |
A |
G |
10: 105,206,407 (GRCm39) |
M296T |
probably damaging |
Het |
Trim13 |
T |
A |
14: 61,842,999 (GRCm39) |
S339T |
probably benign |
Het |
Ugt1a7c |
A |
G |
1: 88,023,239 (GRCm39) |
K133E |
possibly damaging |
Het |
Usp40 |
A |
G |
1: 87,877,739 (GRCm39) |
V1050A |
probably benign |
Het |
Vmn2r86 |
T |
G |
10: 130,288,781 (GRCm39) |
N240T |
probably damaging |
Het |
Wdr36 |
T |
C |
18: 32,992,314 (GRCm39) |
V617A |
possibly damaging |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
Wdr6 |
T |
C |
9: 108,452,704 (GRCm39) |
Y393C |
probably damaging |
Het |
Zfp619 |
A |
T |
7: 39,183,609 (GRCm39) |
|
probably benign |
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 |
IGL02673:Chpf2
|
APN |
5 |
24,796,302 (GRCm39) |
missense |
probably benign |
0.21 |
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 |