Incidental Mutation 'R5278:Chpf2'
ID |
404037 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chpf2
|
Ensembl Gene |
ENSMUSG00000038181 |
Gene Name |
chondroitin polymerizing factor 2 |
Synonyms |
2010209O12Rik |
MMRRC Submission |
042865-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R5278 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
24791739-24799554 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 24793088 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143185
(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 |
unknown
Transcript: ENSMUST00000088295
AA Change: L18Q
|
SMART Domains |
Protein: ENSMUSP00000085633 Gene: ENSMUSG00000038181 AA Change: L18Q
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 |
unknown
Transcript: ENSMUST00000121863
AA Change: L18Q
|
SMART Domains |
Protein: ENSMUSP00000112804 Gene: ENSMUSG00000038181 AA Change: L18Q
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: ENSMUST00000144995
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197566
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198521
|
Meta Mutation Damage Score |
0.1514 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.6%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
C |
T |
5: 35,745,500 (GRCm39) |
|
probably benign |
Het |
Acvr2b |
G |
A |
9: 119,261,555 (GRCm39) |
V383I |
probably damaging |
Het |
Akap12 |
T |
C |
10: 4,304,792 (GRCm39) |
M534T |
probably benign |
Het |
Akp3 |
G |
A |
1: 87,052,888 (GRCm39) |
E26K |
probably benign |
Het |
Alcam |
A |
G |
16: 52,094,638 (GRCm39) |
I371T |
probably benign |
Het |
Ap2a1 |
T |
C |
7: 44,552,203 (GRCm39) |
T794A |
probably benign |
Het |
Apeh |
G |
A |
9: 107,968,457 (GRCm39) |
P349S |
probably benign |
Het |
Asb7 |
G |
T |
7: 66,328,933 (GRCm39) |
Q36K |
possibly damaging |
Het |
Asl |
A |
G |
5: 130,047,672 (GRCm39) |
|
probably null |
Het |
Atp13a2 |
T |
A |
4: 140,728,129 (GRCm39) |
I574N |
probably damaging |
Het |
Bcl2l2 |
T |
A |
14: 55,122,251 (GRCm39) |
I138N |
probably damaging |
Het |
Cacna1d |
C |
T |
14: 30,074,881 (GRCm39) |
|
probably null |
Het |
Ccdc9 |
C |
T |
7: 16,012,306 (GRCm39) |
W1* |
probably null |
Het |
Cdh18 |
T |
A |
15: 23,474,244 (GRCm39) |
S705T |
probably benign |
Het |
Ces5a |
A |
T |
8: 94,252,266 (GRCm39) |
W209R |
probably damaging |
Het |
Cul9 |
T |
A |
17: 46,821,799 (GRCm39) |
H1892L |
probably damaging |
Het |
Cxcl13 |
A |
G |
5: 96,106,586 (GRCm39) |
T53A |
probably benign |
Het |
Cyp2s1 |
T |
A |
7: 25,505,309 (GRCm39) |
Y385F |
possibly damaging |
Het |
Ddx46 |
A |
G |
13: 55,823,851 (GRCm39) |
E915G |
probably damaging |
Het |
Elovl3 |
G |
A |
19: 46,122,540 (GRCm39) |
V113I |
probably benign |
Het |
Fam53c |
A |
T |
18: 34,895,671 (GRCm39) |
|
probably benign |
Het |
Fbxw15 |
A |
T |
9: 109,384,752 (GRCm39) |
F349L |
probably benign |
Het |
Fuz |
C |
T |
7: 44,545,701 (GRCm39) |
P9L |
probably benign |
Het |
Igf1r |
C |
T |
7: 67,843,166 (GRCm39) |
T759M |
possibly damaging |
Het |
Impg2 |
G |
A |
16: 56,041,880 (GRCm39) |
D175N |
probably benign |
Het |
Jade1 |
G |
T |
3: 41,543,444 (GRCm39) |
R43L |
possibly damaging |
Het |
Kntc1 |
A |
G |
5: 123,919,077 (GRCm39) |
E816G |
probably damaging |
Het |
Mettl8 |
A |
T |
2: 70,803,641 (GRCm39) |
D262E |
probably damaging |
Het |
Mrpl48 |
A |
G |
7: 100,201,790 (GRCm39) |
V156A |
probably damaging |
Het |
Mst1 |
A |
C |
9: 107,959,414 (GRCm39) |
K233N |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,225,390 (GRCm39) |
I252V |
probably benign |
Het |
Nox4 |
T |
C |
7: 87,021,134 (GRCm39) |
W449R |
probably damaging |
Het |
Or2a52 |
T |
C |
6: 43,144,655 (GRCm39) |
L221P |
probably damaging |
Het |
Or2l5 |
A |
T |
16: 19,334,128 (GRCm39) |
L86* |
probably null |
Het |
Pank4 |
T |
C |
4: 155,056,622 (GRCm39) |
L351P |
probably damaging |
Het |
Pappa2 |
A |
T |
1: 158,609,973 (GRCm39) |
|
probably null |
Het |
Peg10 |
CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC |
CCATCAGGATGCACATCAGGATCC |
6: 4,756,442 (GRCm39) |
|
probably benign |
Het |
Polr3e |
T |
A |
7: 120,522,184 (GRCm39) |
I10K |
possibly damaging |
Het |
Prkdc |
T |
C |
16: 15,532,838 (GRCm39) |
I1489T |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Sh3pxd2b |
A |
G |
11: 32,331,447 (GRCm39) |
D57G |
probably damaging |
Het |
Shank2 |
G |
A |
7: 143,622,612 (GRCm39) |
|
probably null |
Het |
Slc15a4 |
A |
T |
5: 127,694,033 (GRCm39) |
V134E |
probably damaging |
Het |
Slc49a4 |
A |
G |
16: 35,518,358 (GRCm39) |
S452P |
probably damaging |
Het |
Stxbp5l |
G |
T |
16: 37,007,016 (GRCm39) |
Q726K |
probably benign |
Het |
Tesk2 |
T |
G |
4: 116,663,133 (GRCm39) |
|
probably benign |
Het |
Tex2 |
A |
G |
11: 106,458,639 (GRCm39) |
S264P |
probably benign |
Het |
Tnik |
A |
G |
3: 28,704,209 (GRCm39) |
Q1003R |
probably damaging |
Het |
Trip12 |
C |
T |
1: 84,739,868 (GRCm39) |
R628H |
probably damaging |
Het |
Vmn2r69 |
G |
A |
7: 85,060,991 (GRCm39) |
H198Y |
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 |
IGL02625:Chpf2
|
APN |
5 |
24,796,709 (GRCm39) |
nonsense |
probably null |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCACTGAAGACCAGACATAGGG -3'
(R):5'- TAAGGCACAATCCTGGGTCTG -3'
Sequencing Primer
(F):5'- CCAGACATAGGGTTGGGAAGACTTG -3'
(R):5'- CACAATCCTGGGTCTGAAGTC -3'
|
Posted On |
2016-07-22 |