Incidental Mutation 'R6009:Chid1'
ID |
479651 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chid1
|
Ensembl Gene |
ENSMUSG00000025512 |
Gene Name |
chitinase domain containing 1 |
Synonyms |
3110023E09Rik |
MMRRC Submission |
044186-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R6009 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
141073049-141119770 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 141109493 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 131
(D131V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130360
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026586]
[ENSMUST00000118694]
[ENSMUST00000143561]
[ENSMUST00000153191]
[ENSMUST00000209452]
[ENSMUST00000166082]
|
AlphaFold |
Q922Q9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026586
AA Change: D131V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026586 Gene: ENSMUSG00000025512 AA Change: D131V
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: D129V
|
SMART Domains |
Protein: ENSMUSP00000065953 Gene: ENSMUSG00000025512 AA Change: D129V
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 |
probably damaging
Transcript: ENSMUST00000118694
AA Change: D128V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000112891 Gene: ENSMUSG00000025512 AA Change: D128V
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: D128V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115174 Gene: ENSMUSG00000025512 AA Change: D128V
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 |
probably damaging
Transcript: ENSMUST00000153191
AA Change: D128V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000114693 Gene: ENSMUSG00000025512 AA Change: D128V
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: ENSMUST00000209452
AA Change: D128V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166082
AA Change: D131V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130360 Gene: ENSMUSG00000025512 AA Change: D131V
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
Glyco_18
|
82 |
388 |
3.54e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155305
|
Meta Mutation Damage Score |
0.9317 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
A |
G |
14: 29,700,454 (GRCm39) |
|
probably benign |
Het |
Afap1 |
T |
C |
5: 36,154,904 (GRCm39) |
S683P |
probably damaging |
Het |
Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
Crlf1 |
A |
C |
8: 70,956,129 (GRCm39) |
K403T |
probably damaging |
Het |
Ctdspl2 |
T |
G |
2: 121,819,319 (GRCm39) |
N201K |
probably benign |
Het |
Cyb561a3 |
G |
A |
19: 10,564,172 (GRCm39) |
V171I |
possibly damaging |
Het |
Dazap1 |
T |
C |
10: 80,121,138 (GRCm39) |
|
probably benign |
Het |
Dbf4 |
G |
T |
5: 8,453,718 (GRCm39) |
Q235K |
probably damaging |
Het |
Dgka |
C |
T |
10: 128,559,548 (GRCm39) |
G471D |
probably damaging |
Het |
Fam13b |
A |
T |
18: 34,630,458 (GRCm39) |
F100Y |
possibly damaging |
Het |
Flii |
A |
T |
11: 60,611,583 (GRCm39) |
L376* |
probably null |
Het |
Fnip1 |
G |
T |
11: 54,393,097 (GRCm39) |
G487V |
probably damaging |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Golgb1 |
G |
T |
16: 36,735,321 (GRCm39) |
A1523S |
probably damaging |
Het |
Gstm4 |
A |
G |
3: 107,950,659 (GRCm39) |
V114A |
possibly damaging |
Het |
Gtf3c1 |
A |
G |
7: 125,246,602 (GRCm39) |
F1569S |
possibly damaging |
Het |
Gtf3c5 |
A |
T |
2: 28,461,177 (GRCm39) |
D312E |
probably benign |
Het |
Gtpbp1 |
G |
A |
15: 79,596,297 (GRCm39) |
V149M |
probably damaging |
Het |
Hoxa7 |
C |
T |
6: 52,194,367 (GRCm39) |
V7M |
probably damaging |
Het |
Il17f |
C |
T |
1: 20,849,510 (GRCm39) |
|
probably null |
Het |
Ints9 |
T |
C |
14: 65,245,531 (GRCm39) |
V263A |
probably benign |
Het |
Kansl1l |
C |
T |
1: 66,774,759 (GRCm39) |
C689Y |
probably benign |
Het |
Kctd7 |
G |
A |
5: 130,174,039 (GRCm39) |
G39E |
probably damaging |
Het |
Krt82 |
T |
A |
15: 101,453,540 (GRCm39) |
D282V |
probably benign |
Het |
Lemd1 |
G |
T |
1: 132,155,990 (GRCm39) |
E11* |
probably null |
Het |
Maml2 |
A |
G |
9: 13,532,294 (GRCm39) |
T503A |
probably benign |
Het |
Mief2 |
A |
G |
11: 60,622,485 (GRCm39) |
T352A |
probably benign |
Het |
Msantd1 |
C |
A |
5: 35,075,049 (GRCm39) |
T37K |
probably benign |
Het |
Mtus2 |
A |
G |
5: 148,243,462 (GRCm39) |
E94G |
probably damaging |
Het |
Naaa |
A |
T |
5: 92,407,440 (GRCm39) |
L353Q |
probably benign |
Het |
Nek5 |
T |
C |
8: 22,610,838 (GRCm39) |
E55G |
probably benign |
Het |
Npat |
T |
C |
9: 53,474,749 (GRCm39) |
M847T |
probably damaging |
Het |
Nus1 |
G |
A |
10: 52,309,539 (GRCm39) |
V268I |
probably benign |
Het |
Or51r1 |
A |
G |
7: 102,227,801 (GRCm39) |
N33S |
possibly damaging |
Het |
Parn |
C |
T |
16: 13,485,428 (GRCm39) |
D23N |
probably damaging |
Het |
Pdgfa |
T |
C |
5: 138,964,954 (GRCm39) |
E176G |
probably damaging |
Het |
Plcl1 |
T |
A |
1: 55,735,405 (GRCm39) |
F249I |
probably damaging |
Het |
Plscr5 |
C |
T |
9: 92,086,488 (GRCm39) |
Q153* |
probably null |
Het |
Polr2b |
T |
C |
5: 77,468,099 (GRCm39) |
I133T |
probably benign |
Het |
Polr3c |
A |
G |
3: 96,620,930 (GRCm39) |
S463P |
probably damaging |
Het |
Pprc1 |
A |
T |
19: 46,060,171 (GRCm39) |
I1530L |
probably damaging |
Het |
Prex1 |
C |
T |
2: 166,423,904 (GRCm39) |
S996N |
probably damaging |
Het |
Rnf169 |
C |
A |
7: 99,576,330 (GRCm39) |
R291S |
possibly damaging |
Het |
Setd5 |
A |
G |
6: 113,087,480 (GRCm39) |
K127R |
probably damaging |
Het |
Slc25a26 |
G |
T |
6: 94,487,807 (GRCm39) |
V89L |
probably benign |
Het |
Slc4a10 |
A |
G |
2: 61,877,034 (GRCm39) |
T16A |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,747,951 (GRCm39) |
H430Q |
probably damaging |
Het |
Ttll7 |
A |
T |
3: 146,640,290 (GRCm39) |
D503V |
probably damaging |
Het |
Vav2 |
A |
T |
2: 27,161,912 (GRCm39) |
|
probably null |
Het |
Zbtb47 |
T |
C |
9: 121,591,937 (GRCm39) |
S86P |
possibly damaging |
Het |
Zfp345 |
A |
T |
2: 150,314,437 (GRCm39) |
C367S |
probably damaging |
Het |
Zfp964 |
T |
A |
8: 70,116,106 (GRCm39) |
H235Q |
possibly damaging |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATTAGTCATAATACACAACCTGGC -3'
(R):5'- ATACTGACGACTGTCCTGGG -3'
Sequencing Primer
(F):5'- TAATACACAACCTGGCTAGCTGTGG -3'
(R):5'- CAGCAGTGCAGGTGACATGTATTTAC -3'
|
Posted On |
2017-06-26 |