Incidental Mutation 'R6966:Chid1'
ID |
541995 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chid1
|
Ensembl Gene |
ENSMUSG00000025512 |
Gene Name |
chitinase domain containing 1 |
Synonyms |
3110023E09Rik |
MMRRC Submission |
045076-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R6966 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
141073049-141119770 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 141076297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 357
(Y357F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114693
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026585]
[ENSMUST00000026586]
[ENSMUST00000117634]
[ENSMUST00000118694]
[ENSMUST00000138092]
[ENSMUST00000166082]
[ENSMUST00000146305]
[ENSMUST00000153191]
[ENSMUST00000209452]
|
AlphaFold |
Q922Q9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026585
|
SMART Domains |
Protein: ENSMUSP00000026585 Gene: ENSMUSG00000025511
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
8 |
230 |
4.7e-55 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026586
AA Change: Y274F
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000026586 Gene: ENSMUSG00000025512 AA Change: Y274F
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 |
probably benign
Transcript: ENSMUST00000064642
|
SMART Domains |
Protein: ENSMUSP00000065953 Gene: ENSMUSG00000025512
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 benign
Transcript: ENSMUST00000117634
|
SMART Domains |
Protein: ENSMUSP00000113085 Gene: ENSMUSG00000025511
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
8 |
230 |
1.1e-53 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118694
AA Change: Y271F
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112891 Gene: ENSMUSG00000025512 AA Change: Y271F
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 benign
Transcript: ENSMUST00000138092
|
SMART Domains |
Protein: ENSMUSP00000115421 Gene: ENSMUSG00000025511
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
8 |
154 |
1.8e-38 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166082
AA Change: Y360F
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000130360 Gene: ENSMUSG00000025512 AA Change: Y360F
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 benign
Transcript: ENSMUST00000146305
|
SMART Domains |
Protein: ENSMUSP00000118533 Gene: ENSMUSG00000025511
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
8 |
158 |
2.5e-41 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153191
AA Change: Y357F
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000114693 Gene: ENSMUSG00000025512 AA Change: Y357F
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 benign
Transcript: ENSMUST00000209452
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26b |
G |
A |
8: 43,974,472 (GRCm39) |
R177C |
possibly damaging |
Het |
Adgrb2 |
CG |
C |
4: 129,908,155 (GRCm39) |
|
probably null |
Het |
Bahcc1 |
G |
A |
11: 120,173,985 (GRCm39) |
V1582M |
probably damaging |
Het |
Baiap2 |
A |
T |
11: 119,897,231 (GRCm39) |
R529* |
probably null |
Het |
Bcl9l |
C |
T |
9: 44,420,685 (GRCm39) |
Q1327* |
probably null |
Het |
Brsk2 |
T |
A |
7: 141,538,270 (GRCm39) |
C139S |
possibly damaging |
Het |
Catsper3 |
T |
A |
13: 55,946,672 (GRCm39) |
I123N |
probably damaging |
Het |
Cd84 |
A |
G |
1: 171,713,976 (GRCm39) |
N325D |
possibly damaging |
Het |
Clstn2 |
A |
T |
9: 97,408,459 (GRCm39) |
Y416* |
probably null |
Het |
Cnot1 |
A |
T |
8: 96,451,160 (GRCm39) |
L2189Q |
probably damaging |
Het |
Csnk2b |
T |
A |
17: 35,336,758 (GRCm39) |
I170L |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,631,977 (GRCm39) |
Q1326R |
probably damaging |
Het |
Drd1 |
T |
C |
13: 54,207,564 (GRCm39) |
I210V |
probably damaging |
Het |
Eef1d |
G |
T |
15: 75,775,558 (GRCm39) |
Q34K |
probably benign |
Het |
Fam184a |
T |
C |
10: 53,531,095 (GRCm39) |
T760A |
probably benign |
Het |
Fnip1 |
G |
T |
11: 54,373,385 (GRCm39) |
V199F |
probably benign |
Het |
Glyatl3 |
T |
C |
17: 41,215,829 (GRCm39) |
K226E |
probably damaging |
Het |
Gm19410 |
C |
T |
8: 36,285,127 (GRCm39) |
T2093I |
possibly damaging |
Het |
Herc1 |
A |
T |
9: 66,318,347 (GRCm39) |
E1206D |
probably benign |
Het |
Hs6st1 |
G |
A |
1: 36,143,299 (GRCm39) |
W411* |
probably null |
Het |
Hsf2 |
C |
A |
10: 57,372,080 (GRCm39) |
S60R |
probably damaging |
Het |
Hyal5 |
C |
A |
6: 24,891,291 (GRCm39) |
N368K |
probably damaging |
Het |
Itgb2l |
A |
T |
16: 96,231,843 (GRCm39) |
F308I |
probably benign |
Het |
Kdm7a |
G |
A |
6: 39,129,773 (GRCm39) |
L468F |
probably damaging |
Het |
Lamp3 |
A |
T |
16: 19,518,403 (GRCm39) |
L278* |
probably null |
Het |
Ly6c1 |
A |
T |
15: 74,917,289 (GRCm39) |
|
probably benign |
Het |
Mark3 |
A |
G |
12: 111,606,458 (GRCm39) |
N524D |
probably damaging |
Het |
Met |
T |
G |
6: 17,531,531 (GRCm39) |
L603R |
possibly damaging |
Het |
Mical1 |
A |
T |
10: 41,355,750 (GRCm39) |
Q198L |
probably damaging |
Het |
Nacad |
T |
A |
11: 6,552,634 (GRCm39) |
I186F |
possibly damaging |
Het |
Nt5c3b |
A |
T |
11: 100,320,750 (GRCm39) |
M257K |
probably benign |
Het |
Nuak2 |
T |
C |
1: 132,252,770 (GRCm39) |
M108T |
possibly damaging |
Het |
Nub1 |
T |
A |
5: 24,894,470 (GRCm39) |
Y51N |
probably damaging |
Het |
Nxpe5 |
T |
C |
5: 138,237,679 (GRCm39) |
S68P |
probably damaging |
Het |
Or10ag58 |
C |
T |
2: 87,265,623 (GRCm39) |
T264I |
probably damaging |
Het |
Or5d44 |
A |
G |
2: 88,141,835 (GRCm39) |
S102P |
probably benign |
Het |
Or6c66 |
A |
G |
10: 129,461,633 (GRCm39) |
V99A |
probably benign |
Het |
Pias3 |
A |
G |
3: 96,609,511 (GRCm39) |
D276G |
probably damaging |
Het |
Setd7 |
A |
G |
3: 51,437,605 (GRCm39) |
Y217H |
probably damaging |
Het |
Slc23a1 |
A |
T |
18: 35,758,114 (GRCm39) |
I142N |
probably damaging |
Het |
Slx4ip |
T |
C |
2: 136,910,144 (GRCm39) |
S310P |
probably damaging |
Het |
Tcp11l2 |
G |
A |
10: 84,427,133 (GRCm39) |
R199Q |
possibly damaging |
Het |
Tgm4 |
T |
A |
9: 122,880,207 (GRCm39) |
D226E |
possibly damaging |
Het |
Tspyl4 |
C |
A |
10: 34,173,673 (GRCm39) |
A55E |
probably benign |
Het |
Uap1l1 |
A |
G |
2: 25,254,950 (GRCm39) |
I146T |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,308,441 (GRCm39) |
G2030D |
probably damaging |
Het |
Uts2r |
G |
A |
11: 121,052,213 (GRCm39) |
G359D |
possibly damaging |
Het |
Vwa7 |
T |
C |
17: 35,236,072 (GRCm39) |
S9P |
probably benign |
Het |
Zbtb16 |
A |
G |
9: 48,568,654 (GRCm39) |
C604R |
probably damaging |
Het |
Zfp804b |
A |
G |
5: 6,821,615 (GRCm39) |
S483P |
probably damaging |
Het |
Zfpm1 |
G |
A |
8: 123,058,904 (GRCm39) |
A175T |
probably 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 |
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 |
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'- CCCAAATTACCCTAGACATGGG -3'
(R):5'- CGGAGCACTTCTTTGAGTACAAG -3'
Sequencing Primer
(F):5'- TTACCCTAGACATGGGGGCAATG -3'
(R):5'- AAGTGAGTGACTTGTAGCTCACC -3'
|
Posted On |
2018-11-28 |