Incidental Mutation 'IGL01795:Chil6'
ID |
155320 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Chil6
|
Ensembl Gene |
ENSMUSG00000027902 |
Gene Name |
chitinase-like 6 |
Synonyms |
BYm, BC051070 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
IGL01795
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
106294700-106313498 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 106296108 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 376
(I376F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029510
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029510]
|
AlphaFold |
Q80W26 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029510
AA Change: I376F
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000029510 Gene: ENSMUSG00000027902 AA Change: I376F
Domain | Start | End | E-Value | Type |
Glyco_18
|
39 |
382 |
3.04e-122 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
C |
T |
6: 91,895,093 (GRCm39) |
R263* |
probably null |
Het |
Arfgef1 |
A |
T |
1: 10,217,753 (GRCm39) |
I1562K |
probably benign |
Het |
B4galt1 |
T |
A |
4: 40,807,760 (GRCm39) |
D347V |
probably damaging |
Het |
Ccdc178 |
T |
A |
18: 22,152,175 (GRCm39) |
R646S |
probably benign |
Het |
Ccr1 |
A |
T |
9: 123,764,149 (GRCm39) |
L127* |
probably null |
Het |
Cd109 |
A |
G |
9: 78,569,047 (GRCm39) |
|
probably benign |
Het |
Chd6 |
A |
G |
2: 160,803,294 (GRCm39) |
V2128A |
probably benign |
Het |
Chit1 |
T |
C |
1: 134,076,167 (GRCm39) |
S275P |
probably damaging |
Het |
Dnaaf8 |
T |
G |
16: 4,791,935 (GRCm39) |
|
noncoding transcript |
Het |
Erap1 |
T |
A |
13: 74,814,209 (GRCm39) |
|
probably null |
Het |
F5 |
T |
C |
1: 164,021,959 (GRCm39) |
V1478A |
probably benign |
Het |
Fras1 |
G |
T |
5: 96,925,904 (GRCm39) |
V3703F |
probably damaging |
Het |
Hmmr |
C |
T |
11: 40,612,561 (GRCm39) |
M185I |
probably benign |
Het |
Kcnu1 |
A |
G |
8: 26,403,733 (GRCm39) |
Y8C |
probably damaging |
Het |
Krt16 |
A |
G |
11: 100,138,550 (GRCm39) |
|
probably benign |
Het |
Mcf2l |
A |
G |
8: 13,050,749 (GRCm39) |
|
probably null |
Het |
Mgat5 |
C |
T |
1: 127,396,968 (GRCm39) |
R572W |
probably damaging |
Het |
Neil2 |
T |
C |
14: 63,426,199 (GRCm39) |
D57G |
probably benign |
Het |
Nom1 |
A |
G |
5: 29,651,869 (GRCm39) |
T736A |
probably benign |
Het |
Or4k51 |
A |
T |
2: 111,584,731 (GRCm39) |
M46L |
probably benign |
Het |
Or5m5 |
T |
A |
2: 85,814,478 (GRCm39) |
I98N |
probably damaging |
Het |
Or6p1 |
A |
T |
1: 174,258,215 (GRCm39) |
I74F |
possibly damaging |
Het |
Prr14l |
A |
T |
5: 32,989,189 (GRCm39) |
|
probably benign |
Het |
Sall1 |
A |
G |
8: 89,755,308 (GRCm39) |
S1224P |
probably benign |
Het |
Slc44a2 |
A |
C |
9: 21,256,645 (GRCm39) |
K336Q |
probably damaging |
Het |
Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
Sptan1 |
C |
T |
2: 29,908,501 (GRCm39) |
T1754I |
probably benign |
Het |
Zdhhc5 |
T |
C |
2: 84,520,390 (GRCm39) |
S596G |
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 |
|
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 |
|
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 |
|
|
Posted On |
2014-02-04 |