Incidental Mutation 'R9584:Chil6'
| ID |
722693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chil6
|
| Ensembl Gene |
ENSMUSG00000027902 |
| Gene Name |
chitinase-like 6 |
| Synonyms |
BYm, BC051070 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R9584 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
106294700-106313498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106301672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 143
(F143L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029510]
|
| AlphaFold |
Q80W26 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029510
AA Change: F143L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029510
Gene: ENSMUSG00000027902
AA Change: F143L
| Domain | Start | End | E-Value | Type |
|---|
|
Glyco_18
|
39 |
382 |
3.04e-122 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
T |
G |
13: 70,949,136 (GRCm39) |
D175A |
probably damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,798,504 (GRCm39) |
N635Y |
probably benign |
Het |
| Asxl2 |
T |
C |
12: 3,550,667 (GRCm39) |
V803A |
possibly damaging |
Het |
| Brsk1 |
T |
A |
7: 4,709,662 (GRCm39) |
S430T |
possibly damaging |
Het |
| Btbd8 |
A |
T |
5: 107,658,347 (GRCm39) |
H1639L |
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,277,404 (GRCm39) |
L46P |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 148,985,704 (GRCm39) |
|
probably benign |
Het |
| Catsper2 |
A |
T |
2: 121,230,301 (GRCm39) |
N344K |
probably damaging |
Het |
| Ccdc80 |
A |
G |
16: 44,915,675 (GRCm39) |
S144G |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 18,992,095 (GRCm39) |
L451F |
probably benign |
Het |
| Dock7 |
G |
A |
4: 98,861,481 (GRCm39) |
R1379* |
probably null |
Het |
| Dop1a |
C |
A |
9: 86,385,151 (GRCm39) |
L366I |
possibly damaging |
Het |
| Foxg1 |
G |
A |
12: 49,432,406 (GRCm39) |
V380M |
possibly damaging |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hipk3 |
A |
G |
2: 104,301,910 (GRCm39) |
V94A |
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,322,849 (GRCm39) |
H52R |
probably benign |
Het |
| Kcnv2 |
T |
C |
19: 27,300,265 (GRCm39) |
S39P |
probably damaging |
Het |
| Knop1 |
G |
A |
7: 118,447,709 (GRCm39) |
S417L |
unknown |
Het |
| Muc1 |
C |
T |
3: 89,138,373 (GRCm39) |
T405I |
probably benign |
Het |
| Nlrp2 |
C |
A |
7: 5,322,215 (GRCm39) |
D811Y |
probably damaging |
Het |
| Nvl |
A |
G |
1: 180,958,431 (GRCm39) |
L206S |
probably benign |
Het |
| Or5ac19 |
A |
G |
16: 59,089,580 (GRCm39) |
L150S |
probably benign |
Het |
| Or8g17 |
G |
A |
9: 38,930,462 (GRCm39) |
A125V |
probably damaging |
Het |
| Orai3 |
G |
T |
7: 127,373,177 (GRCm39) |
R226L |
probably benign |
Het |
| Pacs1 |
T |
C |
19: 5,322,622 (GRCm39) |
M99V |
probably benign |
Het |
| Pag1 |
A |
G |
3: 9,761,214 (GRCm39) |
S298P |
probably damaging |
Het |
| Pde4c |
T |
C |
8: 71,200,728 (GRCm39) |
V419A |
probably benign |
Het |
| Pitpna |
C |
A |
11: 75,510,368 (GRCm39) |
N208K |
probably benign |
Het |
| Pnpo |
C |
A |
11: 96,831,705 (GRCm39) |
E114* |
probably null |
Het |
| Pou5f2 |
A |
G |
13: 78,173,592 (GRCm39) |
E178G |
possibly damaging |
Het |
| Psph |
G |
A |
5: 129,847,752 (GRCm39) |
R65C |
probably damaging |
Het |
| Sgsh |
T |
C |
11: 119,241,789 (GRCm39) |
S106G |
possibly damaging |
Het |
| Synrg |
A |
G |
11: 83,900,200 (GRCm39) |
K724R |
probably damaging |
Het |
| Tet1 |
A |
T |
10: 62,655,306 (GRCm39) |
F1538L |
probably damaging |
Het |
| Thada |
G |
A |
17: 84,733,605 (GRCm39) |
T1014I |
probably benign |
Het |
| Topbp1 |
T |
C |
9: 103,219,242 (GRCm39) |
W1165R |
probably damaging |
Het |
| Trrap |
G |
A |
5: 144,777,330 (GRCm39) |
V3043M |
probably damaging |
Het |
| Tshz1 |
G |
A |
18: 84,033,089 (GRCm39) |
H440Y |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,394,549 (GRCm39) |
D1550G |
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 |
|
|
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 |
|
|
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 |
|
|
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'- CTAGCATTTACCTTGTCGAATGAAG -3'
(R):5'- ATAGGTCCTGATGAAAGGCTCAG -3'
Sequencing Primer
(F):5'- GCTTTCCTTACATGCATCA -3'
(R):5'- AGGCTCAGAGGCAGATATTAATG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation