Incidental Mutation 'R6641:Chil6'
| ID |
525782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chil6
|
| Ensembl Gene |
ENSMUSG00000027902 |
| Gene Name |
chitinase-like 6 |
| Synonyms |
BYm, BC051070 |
| MMRRC Submission |
044762-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6641 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
106294700-106313498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106296240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 361
(I361F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029510]
|
| AlphaFold |
Q80W26 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029510
AA Change: I361F
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029510
Gene: ENSMUSG00000027902
AA Change: I361F
| Domain | Start | End | E-Value | Type |
|---|
|
Glyco_18
|
39 |
382 |
3.04e-122 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
C |
T |
16: 88,555,974 (GRCm39) |
P63S |
unknown |
Het |
| Aadac |
T |
C |
3: 59,947,153 (GRCm39) |
S284P |
probably damaging |
Het |
| Casp12 |
G |
A |
9: 5,354,612 (GRCm39) |
C257Y |
probably benign |
Het |
| Cubn |
A |
C |
2: 13,480,875 (GRCm39) |
S327A |
probably damaging |
Het |
| Desi2 |
A |
T |
1: 178,071,943 (GRCm39) |
E82D |
possibly damaging |
Het |
| Dym |
T |
A |
18: 75,189,712 (GRCm39) |
I100N |
probably damaging |
Het |
| Gm14418 |
G |
T |
2: 177,079,623 (GRCm39) |
T124K |
probably benign |
Het |
| Gm28042 |
T |
A |
2: 119,870,164 (GRCm39) |
I701N |
probably damaging |
Het |
| Gm3404 |
C |
A |
5: 146,464,518 (GRCm39) |
A173D |
probably damaging |
Het |
| Hipk1 |
A |
T |
3: 103,660,721 (GRCm39) |
L738Q |
probably damaging |
Het |
| Klk10 |
G |
T |
7: 43,434,324 (GRCm39) |
D239Y |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,132 (GRCm39) |
|
probably benign |
Het |
| Lepr |
T |
A |
4: 101,622,502 (GRCm39) |
D427E |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,702,287 (GRCm39) |
R177W |
probably damaging |
Het |
| Mtg2 |
A |
G |
2: 179,727,301 (GRCm39) |
T318A |
probably benign |
Het |
| Myh7 |
A |
G |
14: 55,219,737 (GRCm39) |
V1044A |
probably benign |
Het |
| Nrsn2 |
A |
G |
2: 152,211,830 (GRCm39) |
V67A |
probably benign |
Het |
| Or2b11 |
T |
C |
11: 59,461,666 (GRCm39) |
D300G |
possibly damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,850 (GRCm39) |
E444G |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,322,762 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,939,460 (GRCm39) |
|
probably null |
Het |
| Prpf40a |
T |
G |
2: 53,031,638 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
C |
5: 22,134,132 (GRCm39) |
Y2599D |
probably damaging |
Het |
| Septin11 |
T |
A |
5: 93,287,411 (GRCm39) |
I42N |
probably damaging |
Het |
| Slc22a15 |
G |
A |
3: 101,783,022 (GRCm39) |
A216V |
possibly damaging |
Het |
| Slc33a1 |
T |
A |
3: 63,861,327 (GRCm39) |
T292S |
probably benign |
Het |
| Slc5a11 |
A |
G |
7: 122,837,378 (GRCm39) |
K56R |
probably benign |
Het |
| Slc7a13 |
G |
A |
4: 19,839,534 (GRCm39) |
G379E |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,245 (GRCm39) |
I193V |
possibly damaging |
Het |
| Specc1l |
A |
G |
10: 75,082,383 (GRCm39) |
E593G |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,626,059 (GRCm39) |
M1169K |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Vipr1 |
A |
G |
9: 121,498,631 (GRCm39) |
*460W |
probably null |
Het |
| Zbtb18 |
T |
A |
1: 177,275,609 (GRCm39) |
L323Q |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,641,270 (GRCm39) |
S129P |
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 |
|
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'- CAGAAAGAACCAGTGTAGTCATCC -3'
(R):5'- CAAGACCTTGTGTGGGGATCTC -3'
Sequencing Primer
(F):5'- CCATATCAATGGTCCAAATCATGG -3'
(R):5'- ACCTTGTGTGGGGATCTCTATTACAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation