Incidental Mutation 'R6613:Chil6'
| ID |
523751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chil6
|
| Ensembl Gene |
ENSMUSG00000027902 |
| Gene Name |
chitinase-like 6 |
| Synonyms |
BYm, BC051070 |
| MMRRC Submission |
044736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6613 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
106294700-106313498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106297191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 317
(F317I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029510]
|
| AlphaFold |
Q80W26 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029510
AA Change: F317I
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029510
Gene: ENSMUSG00000027902
AA Change: F317I
| Domain | Start | End | E-Value | Type |
|---|
|
Glyco_18
|
39 |
382 |
3.04e-122 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.9%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano2 |
G |
A |
6: 125,783,619 (GRCm39) |
|
probably null |
Het |
| Arfgef1 |
A |
T |
1: 10,264,621 (GRCm39) |
I475N |
possibly damaging |
Het |
| Atg16l2 |
C |
T |
7: 100,939,788 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
T |
G |
8: 120,482,760 (GRCm39) |
L874R |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,044,448 (GRCm39) |
S343R |
possibly damaging |
Het |
| C4b |
A |
T |
17: 34,952,539 (GRCm39) |
S1167T |
probably damaging |
Het |
| Cacna1i |
G |
A |
15: 80,205,460 (GRCm39) |
G139S |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 95,992,638 (GRCm39) |
V199E |
possibly damaging |
Het |
| Dcn |
A |
T |
10: 97,330,902 (GRCm39) |
T79S |
probably benign |
Het |
| Dcxr |
A |
G |
11: 120,617,832 (GRCm39) |
V48A |
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,091,076 (GRCm39) |
D668E |
probably benign |
Het |
| Dnajc28 |
C |
A |
16: 91,413,246 (GRCm39) |
E357* |
probably null |
Het |
| Dock7 |
A |
G |
4: 98,866,197 (GRCm39) |
Y1198H |
probably damaging |
Het |
| Flot1 |
A |
G |
17: 36,136,703 (GRCm39) |
D167G |
probably damaging |
Het |
| Gpn1 |
T |
C |
5: 31,654,696 (GRCm39) |
|
probably null |
Het |
| Hyou1 |
A |
T |
9: 44,293,795 (GRCm39) |
I242F |
probably damaging |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,447 (GRCm39) |
N256S |
probably benign |
Het |
| Kif20b |
C |
T |
19: 34,914,384 (GRCm39) |
Q390* |
probably null |
Het |
| Lhfpl2 |
T |
A |
13: 94,311,003 (GRCm39) |
F91Y |
probably damaging |
Het |
| Magi1 |
G |
A |
6: 93,722,654 (GRCm39) |
T408I |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,814,839 (GRCm39) |
N479D |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,539,770 (GRCm39) |
V1339A |
possibly damaging |
Het |
| Nin |
T |
C |
12: 70,077,728 (GRCm39) |
K1733E |
probably damaging |
Het |
| Or5k1 |
C |
A |
16: 58,617,894 (GRCm39) |
C105F |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,575,455 (GRCm39) |
I287T |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,372,367 (GRCm39) |
V1435A |
probably damaging |
Het |
| Rpap3 |
T |
C |
15: 97,579,722 (GRCm39) |
|
probably null |
Het |
| Scin |
A |
G |
12: 40,129,714 (GRCm39) |
Y360H |
probably benign |
Het |
| Sfxn5 |
A |
G |
6: 85,246,890 (GRCm39) |
|
probably null |
Het |
| Sgo1 |
A |
G |
17: 53,986,085 (GRCm39) |
S369P |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,152,029 (GRCm39) |
C184S |
probably null |
Het |
| Srcin1 |
A |
G |
11: 97,424,653 (GRCm39) |
M607T |
possibly damaging |
Het |
| Ssc5d |
C |
T |
7: 4,936,292 (GRCm39) |
P513S |
possibly damaging |
Het |
| Trip10 |
A |
G |
17: 57,562,197 (GRCm39) |
|
probably null |
Het |
| Vmn2r114 |
T |
A |
17: 23,529,220 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Zc3h12c |
A |
G |
9: 52,027,412 (GRCm39) |
V650A |
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 |
|
|
R6587:Chil6
|
UTSW |
3 |
106,312,197 (GRCm39) |
missense |
probably benign |
|
|
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'- AACTGTGTGGTCTGGTAATTGAAAG -3'
(R):5'- GCAACTGCAGAAATACATTATGGAC -3'
Sequencing Primer
(F):5'- CTTATCACTTTTGGTTACCTAGAAGC -3'
(R):5'- TGCAGAAATACATTATGGACAACTGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation