Incidental Mutation 'R5146:Chil4'
ID |
395107 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chil4
|
Ensembl Gene |
ENSMUSG00000063779 |
Gene Name |
chitinase-like 4 |
Synonyms |
Chi3l4, Ym2 |
MMRRC Submission |
042730-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5146 (G1)
|
Quality Score |
126 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
106108807-106126795 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 106110150 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 315
(T315S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082219]
|
AlphaFold |
Q91Z98 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000082219
AA Change: T315S
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000080851 Gene: ENSMUSG00000063779 AA Change: T315S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Glyco_18
|
22 |
365 |
1.77e-132 |
SMART |
|
Meta Mutation Damage Score |
0.1402 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
97% (35/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
G |
12: 71,289,799 (GRCm39) |
D1498G |
possibly damaging |
Het |
Adcyap1r1 |
A |
G |
6: 55,461,957 (GRCm39) |
I329V |
probably benign |
Het |
Ahnak2 |
A |
C |
12: 112,742,160 (GRCm39) |
H637Q |
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,734,636 (GRCm39) |
D455G |
probably benign |
Het |
Cdh20 |
A |
G |
1: 109,922,042 (GRCm39) |
T45A |
probably damaging |
Het |
Cntnap5c |
T |
C |
17: 58,320,842 (GRCm39) |
V138A |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,246,204 (GRCm39) |
D1065G |
probably damaging |
Het |
Cspp1 |
C |
T |
1: 10,145,101 (GRCm39) |
R296* |
probably null |
Het |
Dnah17 |
A |
G |
11: 118,005,005 (GRCm39) |
M793T |
probably damaging |
Het |
Dock4 |
A |
G |
12: 40,699,491 (GRCm39) |
|
probably null |
Het |
Fgfr4 |
G |
T |
13: 55,313,725 (GRCm39) |
L511F |
probably damaging |
Het |
Gm14415 |
T |
C |
2: 176,796,024 (GRCm39) |
|
noncoding transcript |
Het |
Gpam |
A |
G |
19: 55,082,378 (GRCm39) |
V91A |
probably damaging |
Het |
Grin2b |
T |
A |
6: 135,756,340 (GRCm39) |
I462F |
probably damaging |
Het |
Grwd1 |
A |
T |
7: 45,477,258 (GRCm39) |
F210I |
probably damaging |
Het |
H2-T9 |
A |
G |
17: 36,439,907 (GRCm39) |
W76R |
probably damaging |
Het |
Itfg1 |
T |
C |
8: 86,445,497 (GRCm39) |
*611W |
probably null |
Het |
Kcna2 |
T |
C |
3: 107,012,814 (GRCm39) |
V465A |
probably benign |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Myo15b |
A |
G |
11: 115,782,024 (GRCm39) |
T1444A |
probably benign |
Het |
Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
Oas1c |
A |
G |
5: 120,940,159 (GRCm39) |
S336P |
probably benign |
Het |
Pirb |
T |
C |
7: 3,715,620 (GRCm39) |
|
probably benign |
Het |
Pot1b |
A |
T |
17: 55,979,865 (GRCm39) |
Y330* |
probably null |
Het |
Rnf20 |
A |
T |
4: 49,651,456 (GRCm39) |
M641L |
probably benign |
Het |
Sppl2b |
T |
C |
10: 80,703,474 (GRCm39) |
*579Q |
probably null |
Het |
Sumf1 |
G |
A |
6: 108,162,271 (GRCm39) |
P83S |
probably benign |
Het |
Tmem101 |
C |
T |
11: 102,045,450 (GRCm39) |
R133Q |
probably benign |
Het |
Ttn |
G |
A |
2: 76,700,707 (GRCm39) |
|
probably benign |
Het |
Vmn2r84 |
A |
G |
10: 130,221,971 (GRCm39) |
Y750H |
probably damaging |
Het |
Zfp873 |
A |
G |
10: 81,896,058 (GRCm39) |
Y300C |
probably damaging |
Het |
|
Other mutations in Chil4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00778:Chil4
|
APN |
3 |
106,109,113 (GRCm39) |
missense |
probably benign |
|
IGL02457:Chil4
|
APN |
3 |
106,121,715 (GRCm39) |
missense |
probably benign |
|
R1087:Chil4
|
UTSW |
3 |
106,117,881 (GRCm39) |
missense |
probably benign |
0.01 |
R1398:Chil4
|
UTSW |
3 |
106,126,825 (GRCm39) |
splice site |
probably null |
|
R1503:Chil4
|
UTSW |
3 |
106,113,350 (GRCm39) |
missense |
probably benign |
|
R1553:Chil4
|
UTSW |
3 |
106,111,006 (GRCm39) |
missense |
probably benign |
0.02 |
R1806:Chil4
|
UTSW |
3 |
106,117,959 (GRCm39) |
splice site |
probably benign |
|
R1873:Chil4
|
UTSW |
3 |
106,113,414 (GRCm39) |
missense |
probably benign |
0.00 |
R2069:Chil4
|
UTSW |
3 |
106,126,771 (GRCm39) |
missense |
probably benign |
0.16 |
R2100:Chil4
|
UTSW |
3 |
106,121,663 (GRCm39) |
missense |
probably benign |
|
R2370:Chil4
|
UTSW |
3 |
106,121,616 (GRCm39) |
nonsense |
probably null |
|
R2984:Chil4
|
UTSW |
3 |
106,111,043 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2985:Chil4
|
UTSW |
3 |
106,111,043 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3522:Chil4
|
UTSW |
3 |
106,111,056 (GRCm39) |
missense |
probably benign |
0.08 |
R3919:Chil4
|
UTSW |
3 |
106,109,848 (GRCm39) |
missense |
probably benign |
0.00 |
R4033:Chil4
|
UTSW |
3 |
106,121,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R4181:Chil4
|
UTSW |
3 |
106,111,043 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4184:Chil4
|
UTSW |
3 |
106,111,043 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4301:Chil4
|
UTSW |
3 |
106,111,043 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4347:Chil4
|
UTSW |
3 |
106,110,144 (GRCm39) |
missense |
probably benign |
|
R4391:Chil4
|
UTSW |
3 |
106,111,043 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4395:Chil4
|
UTSW |
3 |
106,111,043 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4418:Chil4
|
UTSW |
3 |
106,111,043 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4483:Chil4
|
UTSW |
3 |
106,121,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R4544:Chil4
|
UTSW |
3 |
106,117,922 (GRCm39) |
missense |
probably damaging |
0.97 |
R4887:Chil4
|
UTSW |
3 |
106,111,460 (GRCm39) |
missense |
probably benign |
0.01 |
R4949:Chil4
|
UTSW |
3 |
106,113,408 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5076:Chil4
|
UTSW |
3 |
106,109,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R5254:Chil4
|
UTSW |
3 |
106,126,768 (GRCm39) |
missense |
probably benign |
0.00 |
R5521:Chil4
|
UTSW |
3 |
106,111,013 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5790:Chil4
|
UTSW |
3 |
106,109,894 (GRCm39) |
missense |
probably benign |
0.00 |
R5883:Chil4
|
UTSW |
3 |
106,117,886 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6010:Chil4
|
UTSW |
3 |
106,121,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R6257:Chil4
|
UTSW |
3 |
106,111,412 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6269:Chil4
|
UTSW |
3 |
106,111,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R6602:Chil4
|
UTSW |
3 |
106,117,906 (GRCm39) |
missense |
probably benign |
0.00 |
R7113:Chil4
|
UTSW |
3 |
106,121,664 (GRCm39) |
missense |
probably benign |
|
R7113:Chil4
|
UTSW |
3 |
106,110,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R7188:Chil4
|
UTSW |
3 |
106,111,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R7980:Chil4
|
UTSW |
3 |
106,110,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R8810:Chil4
|
UTSW |
3 |
106,109,121 (GRCm39) |
missense |
probably damaging |
0.99 |
R9300:Chil4
|
UTSW |
3 |
106,109,874 (GRCm39) |
missense |
probably benign |
0.10 |
R9307:Chil4
|
UTSW |
3 |
106,111,382 (GRCm39) |
critical splice donor site |
probably null |
|
R9529:Chil4
|
UTSW |
3 |
106,118,656 (GRCm39) |
missense |
probably damaging |
1.00 |
X0067:Chil4
|
UTSW |
3 |
106,113,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGAGCCACTGAGCCTGTTG -3'
(R):5'- GGGAAATGACTAGTTGTGCCCTG -3'
Sequencing Primer
(F):5'- GTTGAAACAGAGAGCATTTAGTCAC -3'
(R):5'- ACTAGTTGTGCCCTGTAGAACCAG -3'
|
Posted On |
2016-06-21 |