Incidental Mutation 'R3024:Chil6'
| ID |
265771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chil6
|
| Ensembl Gene |
ENSMUSG00000027902 |
| Gene Name |
chitinase-like 6 |
| Synonyms |
BYm, BC051070 |
| MMRRC Submission |
040540-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R3024 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
106294700-106313498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106296086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 383
(D383G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029510]
|
| AlphaFold |
Q80W26 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029510
AA Change: D383G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029510
Gene: ENSMUSG00000027902
AA Change: D383G
| Domain | Start | End | E-Value | Type |
|---|
|
Glyco_18
|
39 |
382 |
3.04e-122 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef37 |
T |
C |
18: 61,634,959 (GRCm39) |
E461G |
probably damaging |
Het |
| Bfsp1 |
A |
T |
2: 143,687,879 (GRCm39) |
V182D |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
| Itpr2 |
G |
A |
6: 146,081,808 (GRCm39) |
A175V |
probably benign |
Het |
| Kcnh7 |
G |
T |
2: 62,595,007 (GRCm39) |
R688S |
probably damaging |
Het |
| Krt6a |
A |
T |
15: 101,599,724 (GRCm39) |
C463S |
probably benign |
Het |
| Ksr2 |
T |
A |
5: 117,693,125 (GRCm39) |
I191N |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,833,272 (GRCm39) |
V1698A |
probably benign |
Het |
| Or12d13 |
A |
T |
17: 37,647,918 (GRCm39) |
D68E |
probably damaging |
Het |
| Or4c127 |
A |
T |
2: 89,833,584 (GRCm39) |
N278I |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,763,795 (GRCm39) |
R572Q |
probably benign |
Het |
| Pes1 |
CGGAGGAGGAGGAGGAGGAGGAGG |
CGGAGGAGGAGGAGGAGGAGG |
11: 3,927,719 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
A |
G |
2: 156,129,787 (GRCm39) |
H453R |
probably damaging |
Het |
| Prex1 |
G |
T |
2: 166,430,956 (GRCm39) |
H615Q |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 108,987,982 (GRCm39) |
I41N |
probably damaging |
Het |
| Slc35f5 |
A |
G |
1: 125,496,335 (GRCm39) |
S157G |
probably benign |
Het |
| Sstr3 |
G |
A |
15: 78,424,187 (GRCm39) |
R187W |
probably damaging |
Het |
| Trim41 |
T |
C |
11: 48,698,985 (GRCm39) |
K420E |
possibly damaging |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,375 (GRCm39) |
Y353C |
probably damaging |
Het |
| Vmn1r238 |
T |
C |
18: 3,123,305 (GRCm39) |
I36M |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,147,883 (GRCm39) |
V149D |
probably damaging |
Het |
| Zfpm2 |
G |
A |
15: 40,966,355 (GRCm39) |
E815K |
probably benign |
Het |
|
| Other mutations in Chil6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01411:Chil6
|
APN |
3 |
106,296,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01735:Chil6
|
APN |
3 |
106,296,004 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01795:Chil6
|
APN |
3 |
106,296,108 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02505:Chil6
|
APN |
3 |
106,313,278 (GRCm39) |
missense |
probably benign |
|
|
IGL03164:Chil6
|
APN |
3 |
106,301,714 (GRCm39) |
missense |
probably benign |
0.04 |
|
cold_cut
|
UTSW |
3 |
106,297,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0409:Chil6
|
UTSW |
3 |
106,311,492 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1761:Chil6
|
UTSW |
3 |
106,301,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1967:Chil6
|
UTSW |
3 |
106,298,470 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2571:Chil6
|
UTSW |
3 |
106,297,709 (GRCm39) |
nonsense |
probably null |
|
|
R3829:Chil6
|
UTSW |
3 |
106,313,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4835:Chil6
|
UTSW |
3 |
106,313,290 (GRCm39) |
nonsense |
probably null |
|
|
R4851:Chil6
|
UTSW |
3 |
106,297,244 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4948:Chil6
|
UTSW |
3 |
106,295,988 (GRCm39) |
intron |
probably benign |
|
|
R5056:Chil6
|
UTSW |
3 |
106,301,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5244:Chil6
|
UTSW |
3 |
106,297,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5555:Chil6
|
UTSW |
3 |
106,297,268 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5594:Chil6
|
UTSW |
3 |
106,301,745 (GRCm39) |
splice site |
probably null |
|
|
R5633:Chil6
|
UTSW |
3 |
106,296,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6194:Chil6
|
UTSW |
3 |
106,312,192 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6587:Chil6
|
UTSW |
3 |
106,312,197 (GRCm39) |
missense |
probably benign |
|
|
R6613:Chil6
|
UTSW |
3 |
106,297,191 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6641:Chil6
|
UTSW |
3 |
106,296,240 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6651:Chil6
|
UTSW |
3 |
106,311,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7094:Chil6
|
UTSW |
3 |
106,311,486 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7161:Chil6
|
UTSW |
3 |
106,301,728 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7653:Chil6
|
UTSW |
3 |
106,301,641 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8802:Chil6
|
UTSW |
3 |
106,312,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9217:Chil6
|
UTSW |
3 |
106,313,411 (GRCm39) |
start gained |
probably benign |
|
|
R9584:Chil6
|
UTSW |
3 |
106,301,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9782:Chil6
|
UTSW |
3 |
106,296,121 (GRCm39) |
nonsense |
probably null |
|
|
X0026:Chil6
|
UTSW |
3 |
106,296,284 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0064:Chil6
|
UTSW |
3 |
106,311,635 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAATCTCACTGGAAAAGTATCTGTC -3'
(R):5'- ATGGAGCCATTCAGGTCTGG -3'
Sequencing Primer
(F):5'- CTGTCATTTTAAGGCTTCCTTTGAG -3'
(R):5'- AGCCATTCAGGTCTGGAATGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation