Incidental Mutation 'R5853:Chpf2'
| ID |
454756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chpf2
|
| Ensembl Gene |
ENSMUSG00000038181 |
| Gene Name |
chondroitin polymerizing factor 2 |
| Synonyms |
2010209O12Rik |
| MMRRC Submission |
044068-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R5853 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
24791739-24799554 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24797190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 712
(L712P)
|
| 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 damaging
Transcript: ENSMUST00000088295
AA Change: L712P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000085633
Gene: ENSMUSG00000038181
AA Change: L712P
| 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 damaging
Transcript: ENSMUST00000121863
AA Change: L712P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112804
Gene: ENSMUSG00000038181
AA Change: L712P
| 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: ENSMUST00000147857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144995
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197933
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198521
|
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
G |
A |
7: 119,939,806 (GRCm39) |
V303I |
probably benign |
Het |
| Abca4 |
G |
T |
3: 121,897,180 (GRCm39) |
V620L |
probably benign |
Het |
| Ankk1 |
A |
T |
9: 49,329,995 (GRCm39) |
V320E |
possibly damaging |
Het |
| Aoah |
G |
T |
13: 21,184,072 (GRCm39) |
A379S |
probably benign |
Het |
| Apol7e |
A |
G |
15: 77,598,667 (GRCm39) |
D44G |
probably benign |
Het |
| Atf2 |
T |
C |
2: 73,658,813 (GRCm39) |
|
probably null |
Het |
| Cd209b |
T |
C |
8: 3,976,549 (GRCm39) |
|
probably null |
Het |
| Chek1 |
G |
A |
9: 36,624,983 (GRCm39) |
S366L |
probably damaging |
Het |
| Clmn |
C |
A |
12: 104,750,161 (GRCm39) |
|
probably null |
Het |
| Cnksr3 |
T |
C |
10: 7,092,977 (GRCm39) |
D178G |
probably benign |
Het |
| Cpox |
T |
C |
16: 58,495,780 (GRCm39) |
Y366H |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,538,056 (GRCm39) |
F3632S |
probably damaging |
Het |
| Eif5b |
T |
A |
1: 38,076,388 (GRCm39) |
D645E |
probably damaging |
Het |
| Emilin1 |
G |
A |
5: 31,075,966 (GRCm39) |
E736K |
probably damaging |
Het |
| Gcnt4 |
G |
A |
13: 97,083,160 (GRCm39) |
R152Q |
probably benign |
Het |
| Il6st |
T |
C |
13: 112,618,071 (GRCm39) |
S162P |
probably damaging |
Het |
| Iqub |
T |
C |
6: 24,491,601 (GRCm39) |
K362E |
probably benign |
Het |
| Kif22 |
G |
T |
7: 126,632,539 (GRCm39) |
P257Q |
possibly damaging |
Het |
| Lhx2 |
T |
C |
2: 38,259,053 (GRCm39) |
V378A |
probably damaging |
Het |
| Lipo3 |
A |
G |
19: 33,759,630 (GRCm39) |
V202A |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,553,738 (GRCm39) |
N366I |
unknown |
Het |
| Mbip |
T |
C |
12: 56,382,662 (GRCm39) |
D268G |
probably damaging |
Het |
| Mc5r |
A |
G |
18: 68,472,564 (GRCm39) |
M308V |
probably benign |
Het |
| Mndal |
C |
A |
1: 173,690,070 (GRCm39) |
G420V |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,899,822 (GRCm39) |
N1442K |
probably damaging |
Het |
| Ndufv1 |
A |
T |
19: 4,058,811 (GRCm39) |
|
probably null |
Het |
| Ofcc1 |
A |
G |
13: 40,360,193 (GRCm39) |
S279P |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,326 (GRCm39) |
M116K |
possibly damaging |
Het |
| Or6b2b |
T |
C |
1: 92,419,439 (GRCm39) |
I13V |
probably benign |
Het |
| Pabpc1l |
A |
T |
2: 163,891,438 (GRCm39) |
H552L |
probably benign |
Het |
| Pigr |
T |
A |
1: 130,774,341 (GRCm39) |
C440* |
probably null |
Het |
| Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
| Prss30 |
C |
T |
17: 24,191,820 (GRCm39) |
V271I |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,741,234 (GRCm39) |
|
probably null |
Het |
| Qrich1 |
T |
A |
9: 108,410,807 (GRCm39) |
|
probably benign |
Het |
| Rem1 |
C |
G |
2: 152,470,200 (GRCm39) |
A62G |
possibly damaging |
Het |
| Rftn1 |
T |
C |
17: 50,354,354 (GRCm39) |
N58S |
probably damaging |
Het |
| Rp9 |
G |
A |
9: 22,360,065 (GRCm39) |
|
probably benign |
Het |
| Rrp1b |
G |
A |
17: 32,275,658 (GRCm39) |
V402I |
possibly damaging |
Het |
| Slc25a33 |
A |
T |
4: 149,838,349 (GRCm39) |
Y108N |
probably benign |
Het |
| Slc3a1 |
A |
G |
17: 85,340,008 (GRCm39) |
M189V |
probably damaging |
Het |
| Slc44a1 |
A |
C |
4: 53,528,682 (GRCm39) |
K144T |
probably benign |
Het |
| Tbc1d13 |
T |
A |
2: 30,027,393 (GRCm39) |
H100Q |
probably damaging |
Het |
| Timm29 |
T |
C |
9: 21,504,749 (GRCm39) |
V139A |
probably damaging |
Het |
| Tmem70 |
T |
C |
1: 16,735,556 (GRCm39) |
W9R |
possibly damaging |
Het |
| Tspan1 |
A |
G |
4: 116,020,502 (GRCm39) |
|
probably null |
Het |
| Unc13a |
T |
C |
8: 72,107,773 (GRCm39) |
|
probably null |
Het |
| Uroc1 |
T |
C |
6: 90,323,738 (GRCm39) |
F395S |
probably damaging |
Het |
| Uvrag |
A |
C |
7: 98,537,284 (GRCm39) |
L637R |
possibly damaging |
Het |
| Vmn1r213 |
T |
G |
13: 23,195,684 (GRCm39) |
L3W |
probably benign |
Het |
| Zfp280d |
C |
T |
9: 72,238,224 (GRCm39) |
T528I |
probably benign |
Het |
| Zfp526 |
C |
T |
7: 24,924,601 (GRCm39) |
Q287* |
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 |
|
|
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 |
|
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'- TGTCACCACAGAGATCTCCC -3'
(R):5'- AAGTGCTGTTGGCCTGTTCC -3'
Sequencing Primer
(F):5'- ACAGAGATCTCCCCCAGGTGTC -3'
(R):5'- GTTGGCCTGTTCCTGTTCAAAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation