Incidental Mutation 'IGL01382:Chid1'
| ID |
78899 |
| 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 # |
IGL01382
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
141073049-141119770 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 141110166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 53
(T53M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026586]
[ENSMUST00000118694]
[ENSMUST00000143561]
[ENSMUST00000153191]
[ENSMUST00000166082]
[ENSMUST00000209452]
|
| AlphaFold |
Q922Q9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026586
AA Change: T56M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026586
Gene: ENSMUSG00000025512
AA Change: T56M
| 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: T54M
|
| SMART Domains |
Protein: ENSMUSP00000065953
Gene: ENSMUSG00000025512
AA Change: T54M
| 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: T53M
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112891
Gene: ENSMUSG00000025512
AA Change: T53M
| 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 |
noncoding transcript
Transcript: ENSMUST00000133359
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143561
AA Change: T53M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115174
Gene: ENSMUSG00000025512
AA Change: T53M
| 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: T53M
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114693
Gene: ENSMUSG00000025512
AA Change: T53M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
32 |
N/A |
INTRINSIC |
|
Glyco_18
|
79 |
385 |
3.54e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166082
AA Change: T56M
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130360
Gene: ENSMUSG00000025512
AA Change: T56M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
Glyco_18
|
82 |
388 |
3.54e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209452
AA Change: T53M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155305
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
G |
T |
5: 142,458,006 (GRCm39) |
R393L |
probably benign |
Het |
| Arhgap21 |
G |
T |
2: 20,860,511 (GRCm39) |
P1128T |
probably damaging |
Het |
| Atp12a |
T |
G |
14: 56,617,412 (GRCm39) |
C567W |
probably damaging |
Het |
| Bcat2 |
C |
A |
7: 45,237,684 (GRCm39) |
R312S |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,356,684 (GRCm39) |
T151S |
probably damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,784,925 (GRCm39) |
D272G |
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,095,733 (GRCm39) |
S596P |
probably damaging |
Het |
| Ephx4 |
A |
G |
5: 107,577,585 (GRCm39) |
E303G |
probably damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Gm9843 |
A |
T |
16: 76,200,460 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1l |
T |
C |
16: 18,362,950 (GRCm39) |
F11S |
probably damaging |
Het |
| Ipmk |
C |
T |
10: 71,212,596 (GRCm39) |
T186M |
probably damaging |
Het |
| Jph1 |
T |
C |
1: 17,086,380 (GRCm39) |
T381A |
probably damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,099,211 (GRCm39) |
I163K |
probably damaging |
Het |
| Kif18a |
T |
A |
2: 109,127,111 (GRCm39) |
Y348* |
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,389,581 (GRCm39) |
D1948V |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,864 (GRCm39) |
I83T |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,192,799 (GRCm39) |
E1530V |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,364 (GRCm39) |
E720K |
possibly damaging |
Het |
| Ncor2 |
T |
A |
5: 125,132,837 (GRCm39) |
Q50L |
probably damaging |
Het |
| Or5p70 |
G |
A |
7: 107,994,452 (GRCm39) |
V42M |
probably benign |
Het |
| Or9s15 |
A |
G |
1: 92,524,922 (GRCm39) |
Y227C |
possibly damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,937,488 (GRCm39) |
M1575K |
probably damaging |
Het |
| Ptprg |
T |
G |
14: 12,237,797 (GRCm38) |
M643R |
probably benign |
Het |
| Reck |
T |
A |
4: 43,940,662 (GRCm39) |
C824S |
probably damaging |
Het |
| Rpgrip1 |
C |
T |
14: 52,382,934 (GRCm39) |
T689I |
possibly damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,072,161 (GRCm39) |
S358T |
probably benign |
Het |
| Sec14l3 |
G |
T |
11: 4,018,104 (GRCm39) |
C128F |
probably damaging |
Het |
| Serpinf2 |
C |
T |
11: 75,328,863 (GRCm39) |
|
probably benign |
Het |
| Sez6l |
C |
T |
5: 112,573,487 (GRCm39) |
V842I |
probably benign |
Het |
| Tm6sf2 |
A |
G |
8: 70,531,018 (GRCm39) |
Y257C |
probably damaging |
Het |
| Tmpo |
T |
C |
10: 91,001,912 (GRCm39) |
D99G |
probably damaging |
Het |
| Tulp3 |
A |
C |
6: 128,302,033 (GRCm39) |
N329K |
probably damaging |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,708 (GRCm39) |
D184V |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,763,938 (GRCm39) |
T272A |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,533,578 (GRCm39) |
L494* |
probably null |
Het |
| Wdr18 |
T |
C |
10: 79,801,106 (GRCm39) |
L173P |
probably damaging |
Het |
| Zfp663 |
T |
A |
2: 165,200,935 (GRCm39) |
Y33F |
probably damaging |
Het |
| Zmiz2 |
T |
A |
11: 6,353,781 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Chid1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Chid1
|
APN |
7 |
141,102,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01095:Chid1
|
APN |
7 |
141,110,142 (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 |
2013-11-05 |
Incidental Mutation