Incidental Mutation 'IGL00425:Chid1'
| ID |
277588 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chid1
|
| Ensembl Gene |
ENSMUSG00000025512 |
| Gene Name |
chitinase domain containing 1 |
| Synonyms |
3110023E09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL00425
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
141073049-141119770 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 141102609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 208
(L208R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026586]
[ENSMUST00000118694]
[ENSMUST00000143561]
[ENSMUST00000153191]
[ENSMUST00000166082]
[ENSMUST00000209452]
|
| AlphaFold |
Q922Q9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026586
AA Change: L208R
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026586
Gene: ENSMUSG00000025512
AA Change: L208R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3BXW|A
|
4 |
240 |
1e-142 |
PDB |
|
Blast:Glyco_18
|
82 |
302 |
1e-139 |
BLAST |
|
SCOP:d1e9la1
|
84 |
240 |
1e-15 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000064642
AA Change: L206R
|
| SMART Domains |
Protein: ENSMUSP00000065953
Gene: ENSMUSG00000025512
AA Change: L206R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3BXW|A
|
3 |
236 |
1e-143 |
PDB |
|
Blast:Glyco_18
|
81 |
268 |
1e-121 |
BLAST |
|
SCOP:d1e9la1
|
83 |
236 |
2e-16 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118694
AA Change: L205R
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112891
Gene: ENSMUSG00000025512
AA Change: L205R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3BXW|A
|
1 |
237 |
1e-142 |
PDB |
|
Blast:Glyco_18
|
79 |
299 |
1e-139 |
BLAST |
|
SCOP:d1e9la1
|
81 |
237 |
1e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143561
AA Change: L205R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115174
Gene: ENSMUSG00000025512
AA Change: L205R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
32 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_18
|
79 |
263 |
4e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147610
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153191
AA Change: L205R
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114693
Gene: ENSMUSG00000025512
AA Change: L205R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
32 |
N/A |
INTRINSIC |
|
Glyco_18
|
79 |
385 |
3.54e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155305
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166082
AA Change: L208R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130360
Gene: ENSMUSG00000025512
AA Change: L208R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
Glyco_18
|
82 |
388 |
3.54e-27 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000209452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209713
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
C |
T |
14: 66,311,498 (GRCm39) |
|
probably null |
Het |
| Adgrb2 |
A |
T |
4: 129,912,865 (GRCm39) |
H1373L |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,977,547 (GRCm39) |
S599P |
probably damaging |
Het |
| Atp9b |
G |
A |
18: 80,961,103 (GRCm39) |
|
probably benign |
Het |
| Baiap2 |
A |
G |
11: 119,872,836 (GRCm39) |
T125A |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,404,550 (GRCm39) |
S1114P |
probably damaging |
Het |
| Ccdc159 |
T |
C |
9: 21,840,765 (GRCm39) |
S111P |
possibly damaging |
Het |
| Cd177 |
T |
A |
7: 24,459,176 (GRCm39) |
T78S |
possibly damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,321,709 (GRCm39) |
|
probably null |
Het |
| Cdkl3 |
C |
A |
11: 51,920,683 (GRCm39) |
T462K |
probably benign |
Het |
| Clca3b |
A |
G |
3: 144,542,342 (GRCm39) |
S487P |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,709,748 (GRCm39) |
L1816Q |
unknown |
Het |
| Dido1 |
A |
G |
2: 180,325,782 (GRCm39) |
S469P |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,734,826 (GRCm39) |
N935D |
probably benign |
Het |
| Fbxw2 |
A |
G |
2: 34,702,961 (GRCm39) |
I184T |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,253,620 (GRCm39) |
I32V |
possibly damaging |
Het |
| Hycc2 |
A |
T |
1: 58,579,412 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
G |
A |
12: 119,153,561 (GRCm39) |
T318I |
probably damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,781,236 (GRCm39) |
S703G |
probably benign |
Het |
| Kif26b |
A |
T |
1: 178,743,866 (GRCm39) |
S1321C |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,529,717 (GRCm39) |
N415S |
possibly damaging |
Het |
| Megf10 |
C |
A |
18: 57,373,700 (GRCm39) |
A166D |
probably damaging |
Het |
| Mrm3 |
T |
G |
11: 76,135,319 (GRCm39) |
S177A |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,539,368 (GRCm39) |
F2011S |
probably benign |
Het |
| Nipal1 |
C |
T |
5: 72,816,067 (GRCm39) |
S30L |
probably benign |
Het |
| Ogdhl |
T |
C |
14: 32,068,447 (GRCm39) |
Y895H |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,500,559 (GRCm39) |
N495D |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,548,182 (GRCm39) |
|
probably null |
Het |
| Pygl |
T |
C |
12: 70,237,866 (GRCm39) |
D724G |
probably damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,835,663 (GRCm39) |
D40G |
probably benign |
Het |
| Serhl |
A |
T |
15: 82,989,838 (GRCm39) |
D192V |
possibly damaging |
Het |
| Slc12a5 |
C |
T |
2: 164,825,201 (GRCm39) |
A461V |
probably damaging |
Het |
| Tomm34 |
A |
T |
2: 163,900,582 (GRCm39) |
|
probably benign |
Het |
| Zfp54 |
A |
G |
17: 21,650,559 (GRCm39) |
N45D |
probably damaging |
Het |
|
| Other mutations in Chid1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:Chid1
|
APN |
7 |
141,110,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01382:Chid1
|
APN |
7 |
141,110,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01505:Chid1
|
APN |
7 |
141,093,807 (GRCm39) |
splice site |
probably null |
|
|
IGL02108:Chid1
|
APN |
7 |
141,112,841 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
IGL02216:Chid1
|
APN |
7 |
141,076,506 (GRCm39) |
splice site |
probably benign |
|
|
IGL02574:Chid1
|
APN |
7 |
141,076,603 (GRCm39) |
splice site |
probably benign |
|
|
R0006:Chid1
|
UTSW |
7 |
141,076,339 (GRCm39) |
splice site |
probably benign |
|
|
R0006:Chid1
|
UTSW |
7 |
141,076,339 (GRCm39) |
splice site |
probably benign |
|
|
R0711:Chid1
|
UTSW |
7 |
141,076,590 (GRCm39) |
missense |
probably benign |
|
|
R1518:Chid1
|
UTSW |
7 |
141,108,384 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1836:Chid1
|
UTSW |
7 |
141,106,409 (GRCm39) |
splice site |
probably null |
|
|
R5026:Chid1
|
UTSW |
7 |
141,093,749 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5516:Chid1
|
UTSW |
7 |
141,076,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5811:Chid1
|
UTSW |
7 |
141,110,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6009:Chid1
|
UTSW |
7 |
141,109,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Chid1
|
UTSW |
7 |
141,108,415 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6238:Chid1
|
UTSW |
7 |
141,076,049 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6966:Chid1
|
UTSW |
7 |
141,076,297 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7106:Chid1
|
UTSW |
7 |
141,102,573 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7278:Chid1
|
UTSW |
7 |
141,109,401 (GRCm39) |
splice site |
probably null |
|
|
R7773:Chid1
|
UTSW |
7 |
141,109,518 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8714:Chid1
|
UTSW |
7 |
141,093,678 (GRCm39) |
nonsense |
probably null |
|
|
R9169:Chid1
|
UTSW |
7 |
141,093,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9536:Chid1
|
UTSW |
7 |
141,093,755 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation