Incidental Mutation 'R5516:Chid1'
| ID |
484467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chid1
|
| Ensembl Gene |
ENSMUSG00000025512 |
| Gene Name |
chitinase domain containing 1 |
| Synonyms |
3110023E09Rik |
| MMRRC Submission |
043075-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5516 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
141073049-141119770 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 141076059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 365
(S365P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026585]
[ENSMUST00000026586]
[ENSMUST00000117634]
[ENSMUST00000118694]
[ENSMUST00000138092]
[ENSMUST00000153191]
[ENSMUST00000166082]
[ENSMUST00000209452]
[ENSMUST00000146305]
|
| 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 |
probably damaging
Transcript: ENSMUST00000026586
AA Change: S279P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026586
Gene: ENSMUSG00000025512
AA Change: S279P
| 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 |
probably benign
Transcript: ENSMUST00000118694
AA Change: S276P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112891
Gene: ENSMUSG00000025512
AA Change: S276P
| 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: ENSMUST00000130402
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000147610
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153191
AA Change: S362P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114693
Gene: ENSMUSG00000025512
AA Change: S362P
| 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: S365P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130360
Gene: ENSMUSG00000025512
AA Change: S365P
| 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: ENSMUST00000209452
|
| 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 |
|
| Meta Mutation Damage Score |
0.8409 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.4%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,306,901 (GRCm39) |
K334R |
probably damaging |
Het |
| Aldh1l1 |
A |
T |
6: 90,573,927 (GRCm39) |
I809F |
possibly damaging |
Het |
| Bmp2k |
T |
A |
5: 97,235,312 (GRCm39) |
|
probably benign |
Het |
| C1qtnf9 |
T |
A |
14: 61,017,198 (GRCm39) |
C243S |
probably damaging |
Het |
| Cacna1c |
G |
A |
6: 119,034,179 (GRCm39) |
A146V |
probably damaging |
Het |
| Ccdc85c |
A |
G |
12: 108,174,109 (GRCm39) |
V353A |
probably damaging |
Het |
| Cd300ld2 |
G |
T |
11: 114,903,270 (GRCm39) |
|
probably benign |
Het |
| Cd320 |
A |
G |
17: 34,067,021 (GRCm39) |
Q170R |
possibly damaging |
Het |
| Cfap43 |
C |
T |
19: 47,726,648 (GRCm39) |
|
probably null |
Het |
| Chrna7 |
T |
G |
7: 62,749,046 (GRCm39) |
T479P |
probably damaging |
Het |
| Clasp1 |
G |
T |
1: 118,425,451 (GRCm39) |
R35L |
probably damaging |
Het |
| Cluh |
G |
A |
11: 74,551,270 (GRCm39) |
R373H |
probably damaging |
Het |
| Cyp2b23 |
G |
A |
7: 26,372,482 (GRCm39) |
R378* |
probably null |
Het |
| Cyp2d9 |
T |
G |
15: 82,338,528 (GRCm39) |
N136K |
probably null |
Het |
| Efcab5 |
A |
T |
11: 77,079,615 (GRCm39) |
S44T |
possibly damaging |
Het |
| Esrrg |
A |
T |
1: 187,930,927 (GRCm39) |
L316F |
possibly damaging |
Het |
| Fam222a |
T |
C |
5: 114,749,889 (GRCm39) |
Y362H |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,910,005 (GRCm39) |
V1999A |
probably damaging |
Het |
| Fes |
A |
T |
7: 80,036,931 (GRCm39) |
M51K |
probably damaging |
Het |
| Fmo3 |
T |
A |
1: 162,781,995 (GRCm39) |
K453* |
probably null |
Het |
| Galnt1 |
A |
G |
18: 24,413,074 (GRCm39) |
N458S |
probably benign |
Het |
| Gm8888 |
T |
A |
15: 96,664,855 (GRCm39) |
|
noncoding transcript |
Het |
| Gpn2 |
G |
A |
4: 133,312,190 (GRCm39) |
|
probably null |
Het |
| Grm4 |
G |
A |
17: 27,657,385 (GRCm39) |
T464I |
probably benign |
Het |
| Insr |
T |
A |
8: 3,205,764 (GRCm39) |
K1342* |
probably null |
Het |
| Krt87 |
T |
A |
15: 101,385,002 (GRCm39) |
K365* |
probably null |
Het |
| Lfng |
T |
C |
5: 140,599,018 (GRCm39) |
L309P |
probably damaging |
Het |
| Lnpk |
T |
C |
2: 74,378,132 (GRCm39) |
|
probably benign |
Het |
| Lrrc8e |
A |
C |
8: 4,285,818 (GRCm39) |
D681A |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,818,707 (GRCm39) |
D1326N |
probably benign |
Het |
| Mmp27 |
A |
G |
9: 7,579,063 (GRCm39) |
R413G |
probably null |
Het |
| Nags |
C |
T |
11: 102,036,773 (GRCm39) |
Q121* |
probably null |
Het |
| Nectin1 |
A |
G |
9: 43,715,090 (GRCm39) |
E442G |
probably benign |
Het |
| Nek1 |
G |
C |
8: 61,542,523 (GRCm39) |
A729P |
probably benign |
Het |
| Or51a24 |
A |
G |
7: 103,733,444 (GRCm39) |
I281T |
possibly damaging |
Het |
| Pnp2 |
C |
T |
14: 51,201,195 (GRCm39) |
A189V |
probably benign |
Het |
| Ppm1m |
T |
A |
9: 106,075,138 (GRCm39) |
I136F |
probably damaging |
Het |
| Pramel21 |
A |
G |
4: 143,342,253 (GRCm39) |
Q120R |
possibly damaging |
Het |
| Psg17 |
G |
T |
7: 18,548,458 (GRCm39) |
Q438K |
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,372,926 (GRCm39) |
R726* |
probably null |
Het |
| Rab3gap2 |
A |
T |
1: 184,967,684 (GRCm39) |
Y163F |
probably benign |
Het |
| Scrib |
A |
T |
15: 75,934,712 (GRCm39) |
L627Q |
possibly damaging |
Het |
| Tcp1 |
A |
G |
17: 13,143,221 (GRCm39) |
K510R |
probably damaging |
Het |
| Tle4 |
A |
T |
19: 14,432,253 (GRCm39) |
I481N |
probably damaging |
Het |
| Tmem43 |
G |
T |
6: 91,455,192 (GRCm39) |
R56L |
possibly damaging |
Het |
| Trmt10a |
T |
C |
3: 137,857,957 (GRCm39) |
I168T |
possibly damaging |
Het |
| Trpv1 |
A |
T |
11: 73,136,809 (GRCm39) |
Y96F |
probably benign |
Het |
| Tshz3 |
C |
T |
7: 36,469,775 (GRCm39) |
T588I |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,559,702 (GRCm39) |
F397L |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,195,032 (GRCm39) |
S765P |
probably damaging |
Het |
| Zfp668 |
A |
G |
7: 127,466,318 (GRCm39) |
F289L |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,601,640 (GRCm39) |
T195A |
probably benign |
Het |
| Zscan10 |
A |
G |
17: 23,828,333 (GRCm39) |
T182A |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCATAGCAGCTGTCTCATG -3'
(R):5'- TCAACTATAATGCTGTGGTGGG -3'
Sequencing Primer
(F):5'- AGCAGCTGTCTCATGGTAAAC -3'
(R):5'- GAGTGAGTTTTGGCCAGATGACATC -3'
|
| Posted On |
2017-07-21 |
Incidental Mutation