Incidental Mutation 'R6587:Chil6'
| ID |
526378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chil6
|
| Ensembl Gene |
ENSMUSG00000027902 |
| Gene Name |
chitinase-like 6 |
| Synonyms |
BYm, BC051070 |
| MMRRC Submission |
044711-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6587 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
106294700-106313498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106312197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 35
(M35V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029510]
|
| AlphaFold |
Q80W26 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029510
AA Change: M35V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029510
Gene: ENSMUSG00000027902
AA Change: M35V
| Domain | Start | End | E-Value | Type |
|---|
|
Glyco_18
|
39 |
382 |
3.04e-122 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc2 |
TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG |
TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG |
2: 25,162,550 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
G |
T |
10: 69,825,982 (GRCm39) |
|
probably benign |
Het |
| Ano3 |
C |
A |
2: 110,628,249 (GRCm39) |
|
probably null |
Het |
| Arhgap39 |
A |
G |
15: 76,621,699 (GRCm39) |
S301P |
probably damaging |
Het |
| Atad2 |
G |
T |
15: 57,984,444 (GRCm39) |
Q295K |
probably benign |
Het |
| Camkmt |
T |
C |
17: 85,421,243 (GRCm39) |
V115A |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,390,571 (GRCm39) |
E1087G |
probably damaging |
Het |
| Cfhr2 |
T |
A |
1: 139,738,596 (GRCm39) |
I322F |
probably benign |
Het |
| Cyp3a44 |
T |
C |
5: 145,742,569 (GRCm39) |
T11A |
probably benign |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Ghitm |
A |
T |
14: 36,847,146 (GRCm39) |
Y309* |
probably null |
Het |
| Klhl18 |
T |
C |
9: 110,284,494 (GRCm39) |
H64R |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,860,704 (GRCm39) |
K201R |
probably benign |
Het |
| Lpar3 |
T |
C |
3: 145,946,918 (GRCm39) |
F199L |
probably damaging |
Het |
| Mindy3 |
G |
A |
2: 12,352,927 (GRCm39) |
Q425* |
probably null |
Het |
| Or5b114-ps1 |
A |
T |
19: 13,352,977 (GRCm39) |
Y217F |
unknown |
Het |
| P2rx7 |
A |
C |
5: 122,802,613 (GRCm39) |
N207T |
probably damaging |
Het |
| Pcdhb7 |
T |
G |
18: 37,477,156 (GRCm39) |
L764R |
probably benign |
Het |
| Pgap6 |
G |
A |
17: 26,340,538 (GRCm39) |
V641I |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 110,040,182 (GRCm39) |
Y378C |
probably damaging |
Het |
| Slc23a2 |
C |
T |
2: 131,920,401 (GRCm39) |
S168N |
possibly damaging |
Het |
| Tmem260 |
A |
G |
14: 48,733,913 (GRCm39) |
|
probably null |
Het |
| Tmprss15 |
T |
G |
16: 78,868,317 (GRCm39) |
L198F |
probably benign |
Het |
| Tulp4 |
C |
T |
17: 6,282,146 (GRCm39) |
T725I |
possibly damaging |
Het |
| Tut4 |
C |
A |
4: 108,336,646 (GRCm39) |
N123K |
probably benign |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Zp3 |
A |
G |
5: 136,016,352 (GRCm39) |
D318G |
possibly damaging |
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 |
|
|
R3024:Chil6
|
UTSW |
3 |
106,296,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- TCCAGTGGTGATGCTATACTGC -3'
(R):5'- ACAGGGTTATTGCTAGTACTGAGTAG -3'
Sequencing Primer
(F):5'- TGCTATACTGCATAGTAGTGGGAAC -3'
(R):5'- GATCTTAGAGAACAGCAGGT -3'
|
| Posted On |
2018-06-25 |
Incidental Mutation