Incidental Mutation 'R6463:Chpf2'
| ID |
517676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chpf2
|
| Ensembl Gene |
ENSMUSG00000038181 |
| Gene Name |
chondroitin polymerizing factor 2 |
| Synonyms |
2010209O12Rik |
| MMRRC Submission |
045324-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R6463 (G1)
|
| Quality Score |
192.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24791739-24799554 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 24794524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 231
(L231F)
|
| 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 damaging
Transcript: ENSMUST00000088295
AA Change: L231F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085633
Gene: ENSMUSG00000038181
AA Change: L231F
| 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: L231F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112804
Gene: ENSMUSG00000038181
AA Change: L231F
| 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: ENSMUST00000197933
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198521
|
| Meta Mutation Damage Score |
0.1761 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.4%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
T |
4: 39,450,938 (GRCm39) |
H48L |
probably damaging |
Het |
| Aifm3 |
A |
G |
16: 17,318,653 (GRCm39) |
I185V |
probably benign |
Het |
| Asb7 |
A |
T |
7: 66,309,984 (GRCm39) |
D77E |
probably damaging |
Het |
| Cacna1i |
T |
C |
15: 80,239,959 (GRCm39) |
I336T |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,323,333 (GRCm39) |
L1016* |
probably null |
Het |
| Cep63 |
C |
A |
9: 102,473,354 (GRCm39) |
M504I |
probably benign |
Het |
| Cnot10 |
T |
C |
9: 114,454,970 (GRCm39) |
Y221C |
probably damaging |
Het |
| Col3a1 |
G |
A |
1: 45,381,365 (GRCm39) |
|
probably benign |
Het |
| Csl |
T |
C |
10: 99,594,960 (GRCm39) |
D35G |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,539,875 (GRCm39) |
Y2286C |
probably damaging |
Het |
| Dbt |
A |
G |
3: 116,333,409 (GRCm39) |
E293G |
possibly damaging |
Het |
| Ddx31 |
T |
A |
2: 28,737,525 (GRCm39) |
|
probably null |
Het |
| Dnm1 |
T |
C |
2: 32,199,603 (GRCm39) |
|
probably benign |
Het |
| Elfn1 |
A |
G |
5: 139,958,040 (GRCm39) |
Y348C |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,254,569 (GRCm39) |
I657F |
probably damaging |
Het |
| Fbp1 |
A |
G |
13: 63,012,824 (GRCm39) |
F123S |
possibly damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,229,481 (GRCm39) |
N732S |
probably damaging |
Het |
| Itfg1 |
A |
G |
8: 86,462,780 (GRCm39) |
S448P |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,945,663 (GRCm39) |
R795G |
probably benign |
Het |
| Izumo2 |
A |
G |
7: 44,358,498 (GRCm39) |
K84R |
probably benign |
Het |
| Kbtbd3 |
A |
G |
9: 4,316,921 (GRCm39) |
Y24C |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,773,308 (GRCm39) |
L5489P |
probably damaging |
Het |
| Mettl2 |
G |
A |
11: 105,023,407 (GRCm39) |
|
probably null |
Het |
| Mtr |
T |
C |
13: 12,231,752 (GRCm39) |
T651A |
probably benign |
Het |
| Naglu |
A |
G |
11: 100,968,177 (GRCm39) |
|
probably null |
Het |
| Nkx6-1 |
G |
T |
5: 101,807,342 (GRCm39) |
H347N |
probably damaging |
Het |
| Ntpcr |
A |
G |
8: 126,462,843 (GRCm39) |
E20G |
probably benign |
Het |
| Oas2 |
T |
C |
5: 120,873,046 (GRCm39) |
R670G |
probably null |
Het |
| Or10h1 |
G |
A |
17: 33,418,612 (GRCm39) |
V197I |
probably benign |
Het |
| Or2ag16 |
C |
G |
7: 106,352,008 (GRCm39) |
E196Q |
probably benign |
Het |
| Or4p8 |
T |
C |
2: 88,727,462 (GRCm39) |
I160V |
probably benign |
Het |
| Phldb2 |
A |
C |
16: 45,595,356 (GRCm39) |
V902G |
probably benign |
Het |
| Rdh7 |
T |
C |
10: 127,721,650 (GRCm39) |
R209G |
probably benign |
Het |
| Slc13a3 |
A |
C |
2: 165,287,573 (GRCm39) |
L127R |
probably damaging |
Het |
| Slc6a20b |
T |
A |
9: 123,434,014 (GRCm39) |
I275F |
possibly damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tmx4 |
T |
C |
2: 134,462,559 (GRCm39) |
Y124C |
probably damaging |
Het |
| Trh |
A |
T |
6: 92,219,824 (GRCm39) |
M164K |
possibly damaging |
Het |
| Trhr |
A |
G |
15: 44,060,981 (GRCm39) |
N167S |
probably benign |
Het |
| Ttll7 |
G |
A |
3: 146,637,337 (GRCm39) |
R490Q |
possibly damaging |
Het |
| Uck1 |
T |
C |
2: 32,148,667 (GRCm39) |
N100S |
probably benign |
Het |
| Ucp3 |
A |
T |
7: 100,129,476 (GRCm39) |
T104S |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,489,435 (GRCm39) |
H468L |
probably benign |
Het |
| Xaf1 |
G |
A |
11: 72,199,464 (GRCm39) |
R67H |
probably benign |
Het |
| Ypel4 |
T |
C |
2: 84,567,087 (GRCm39) |
|
probably benign |
Het |
| Zfp687 |
A |
G |
3: 94,918,095 (GRCm39) |
I559T |
probably 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 |
|
|
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 |
|
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'- TTGGGGCAGACTATGACTGG -3'
(R):5'- GTCTGGAGAATTCAGTTTGGACAG -3'
Sequencing Primer
(F):5'- GGTTCTTCATCATGCAGGACGAC -3'
(R):5'- TGGACAGCAATCATTCAGTCACTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation