Incidental Mutation 'R4391:Chil4'
ID |
326358 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chil4
|
Ensembl Gene |
ENSMUSG00000063779 |
Gene Name |
chitinase-like 4 |
Synonyms |
Chi3l4, Ym2 |
MMRRC Submission |
041682-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4391 (G1)
|
Quality Score |
154 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
106108807-106126795 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 106111043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 284
(P284S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082219]
|
AlphaFold |
Q91Z98 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082219
AA Change: P284S
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000080851 Gene: ENSMUSG00000063779 AA Change: P284S
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 |
0.6164 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.6%
- 10x: 96.4%
- 20x: 91.6%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030469F06Rik |
A |
T |
12: 31,234,622 (GRCm39) |
|
noncoding transcript |
Het |
Actn2 |
C |
T |
13: 12,305,634 (GRCm39) |
R394Q |
probably damaging |
Het |
Atg16l1 |
A |
G |
1: 87,687,842 (GRCm39) |
D62G |
probably damaging |
Het |
Atp2b1 |
A |
G |
10: 98,839,076 (GRCm39) |
T635A |
probably benign |
Het |
Dnah1 |
G |
A |
14: 31,016,792 (GRCm39) |
T1575I |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,376,754 (GRCm39) |
|
probably null |
Het |
Dnajc12 |
A |
G |
10: 63,242,838 (GRCm39) |
T37A |
probably benign |
Het |
Efcab5 |
T |
A |
11: 76,981,284 (GRCm39) |
N1354I |
probably damaging |
Het |
Epas1 |
T |
C |
17: 87,117,091 (GRCm39) |
L218P |
probably benign |
Het |
Fbxw15 |
T |
A |
9: 109,397,300 (GRCm39) |
|
probably benign |
Het |
Filip1l |
C |
A |
16: 57,391,155 (GRCm39) |
S581* |
probably null |
Het |
Focad |
T |
A |
4: 88,104,195 (GRCm39) |
I358K |
probably damaging |
Het |
Gm382 |
T |
A |
X: 125,968,942 (GRCm39) |
S376T |
probably benign |
Het |
Gpsm1 |
C |
T |
2: 26,214,009 (GRCm39) |
R179C |
probably damaging |
Het |
Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Krt39 |
C |
T |
11: 99,405,578 (GRCm39) |
A441T |
probably benign |
Het |
Nrdc |
T |
A |
4: 108,903,841 (GRCm39) |
N662K |
probably damaging |
Het |
Obox5 |
C |
T |
7: 15,491,899 (GRCm39) |
Q105* |
probably null |
Het |
Or56a3b |
T |
A |
7: 104,770,793 (GRCm39) |
M43K |
possibly damaging |
Het |
Or5af1 |
T |
A |
11: 58,722,841 (GRCm39) |
V287D |
possibly damaging |
Het |
Or8c13 |
A |
T |
9: 38,091,645 (GRCm39) |
V158D |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,789 (GRCm39) |
L723Q |
possibly damaging |
Het |
Pou3f3 |
G |
T |
1: 42,736,618 (GRCm39) |
A105S |
unknown |
Het |
Ppp1r3d |
C |
T |
2: 178,055,880 (GRCm39) |
D41N |
probably damaging |
Het |
Ppp4r1 |
A |
G |
17: 66,131,749 (GRCm39) |
N497S |
probably benign |
Het |
Rad54b |
T |
G |
4: 11,615,570 (GRCm39) |
N859K |
probably benign |
Het |
Sh3bp2 |
C |
T |
5: 34,707,062 (GRCm39) |
S29L |
probably benign |
Het |
Smarcad1 |
A |
T |
6: 65,033,443 (GRCm39) |
N142I |
probably benign |
Het |
Sp140l1 |
G |
A |
1: 85,062,852 (GRCm39) |
|
probably benign |
Het |
Stat3 |
G |
A |
11: 100,796,378 (GRCm39) |
|
probably benign |
Het |
Stmn3 |
T |
C |
2: 180,950,576 (GRCm39) |
R77G |
probably benign |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Xlr3a |
T |
C |
X: 72,135,450 (GRCm39) |
I87V |
possibly 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 |
|
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 |
R5146:Chil4
|
UTSW |
3 |
106,110,150 (GRCm39) |
missense |
probably benign |
0.18 |
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'- CATGTTGTATCTGCTTAGGAAGAGTAC -3'
(R):5'- TTCACACAATTTGAGATACAAGAGGGG -3'
Sequencing Primer
(F):5'- TCTGCTTAGGAAGAGTACATACTG -3'
(R):5'- AGGGGAGAACTAACCTATATAAACAC -3'
|
Posted On |
2015-07-06 |