Incidental Mutation 'R4168:Chpf2'
ID |
320651 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chpf2
|
Ensembl Gene |
ENSMUSG00000038181 |
Gene Name |
chondroitin polymerizing factor 2 |
Synonyms |
2010209O12Rik |
MMRRC Submission |
041009-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R4168 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
24791739-24799554 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24796788 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 578
(V578A)
|
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 |
possibly damaging
Transcript: ENSMUST00000088295
AA Change: V578A
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000085633 Gene: ENSMUSG00000038181 AA Change: V578A
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 |
possibly damaging
Transcript: ENSMUST00000121863
AA Change: V578A
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112804 Gene: ENSMUSG00000038181 AA Change: V578A
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: ENSMUST00000144995
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198521
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197566
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145565
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197933
|
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 |
|
Meta Mutation Damage Score |
0.2313 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
98% (39/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
C3 |
A |
T |
17: 57,525,608 (GRCm39) |
F883I |
probably benign |
Het |
Cbr4 |
T |
A |
8: 61,944,555 (GRCm39) |
|
probably benign |
Het |
Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
Clasrp |
A |
G |
7: 19,315,079 (GRCm39) |
|
probably benign |
Het |
Cmip |
A |
T |
8: 118,183,656 (GRCm39) |
N743I |
probably damaging |
Het |
Ctif |
A |
C |
18: 75,770,286 (GRCm39) |
L33R |
probably damaging |
Het |
Dmap1 |
T |
A |
4: 117,538,507 (GRCm39) |
H54L |
possibly damaging |
Het |
Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
Fcgbpl1 |
T |
C |
7: 27,836,534 (GRCm39) |
L151P |
probably benign |
Het |
Flt4 |
G |
A |
11: 49,521,400 (GRCm39) |
R440H |
probably benign |
Het |
Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
Gm12789 |
A |
G |
4: 101,847,159 (GRCm39) |
Y148C |
possibly damaging |
Het |
Haspin |
A |
G |
11: 73,026,848 (GRCm39) |
L747P |
probably damaging |
Het |
Intu |
C |
T |
3: 40,627,053 (GRCm39) |
P278L |
probably benign |
Het |
Kif27 |
A |
G |
13: 58,493,562 (GRCm39) |
I127T |
probably benign |
Het |
Mogat1 |
T |
C |
1: 78,488,672 (GRCm39) |
V25A |
possibly damaging |
Het |
Nop14 |
A |
G |
5: 34,814,088 (GRCm39) |
S157P |
probably damaging |
Het |
Or5al6 |
A |
G |
2: 85,976,523 (GRCm39) |
I185T |
probably benign |
Het |
Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
Or5k3 |
A |
T |
16: 58,969,363 (GRCm39) |
Y50F |
probably benign |
Het |
Oxct2b |
T |
C |
4: 123,011,478 (GRCm39) |
L466P |
probably damaging |
Het |
Padi6 |
A |
G |
4: 140,469,245 (GRCm39) |
C32R |
probably damaging |
Het |
Pla2r1 |
A |
T |
2: 60,327,958 (GRCm39) |
Y501* |
probably null |
Het |
Rb1cc1 |
G |
A |
1: 6,300,248 (GRCm39) |
V8I |
probably damaging |
Het |
Rexo5 |
A |
G |
7: 119,426,621 (GRCm39) |
|
probably benign |
Het |
Slco1a7 |
T |
C |
6: 141,684,673 (GRCm39) |
I261V |
probably benign |
Het |
Tmem119 |
T |
C |
5: 113,933,048 (GRCm39) |
E251G |
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,822,069 (GRCm39) |
M249K |
probably benign |
Het |
Zc2hc1a |
A |
G |
3: 7,583,451 (GRCm39) |
T41A |
probably benign |
Het |
Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
Het |
Znrf2 |
T |
C |
6: 54,840,945 (GRCm39) |
V173A |
possibly damaging |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAACATGCATTGCTCACCCTG -3'
(R):5'- TGAAGCCTGCCGGTCAAATC -3'
Sequencing Primer
(F):5'- GCATTGCTCACCCTGTTGTTGG -3'
(R):5'- CTAGAAGGGTCCACACCAGG -3'
|
Posted On |
2015-06-12 |