Incidental Mutation 'R2370:Chil4'
ID |
247488 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chil4
|
Ensembl Gene |
ENSMUSG00000063779 |
Gene Name |
chitinase-like 4 |
Synonyms |
Chi3l4, Ym2 |
MMRRC Submission |
040350-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2370 (G1)
|
Quality Score |
203 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
106108807-106126795 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 106121616 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 78
(E78*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082219]
|
AlphaFold |
Q91Z98 |
Predicted Effect |
probably null
Transcript: ENSMUST00000082219
AA Change: E78*
|
SMART Domains |
Protein: ENSMUSP00000080851 Gene: ENSMUSG00000063779 AA Change: E78*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Glyco_18
|
22 |
365 |
1.77e-132 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196128
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,206,185 (GRCm39) |
T162A |
possibly damaging |
Het |
Adamts9 |
T |
A |
6: 92,837,184 (GRCm39) |
D578V |
probably damaging |
Het |
Atp6v1a |
T |
C |
16: 43,927,403 (GRCm39) |
T295A |
probably benign |
Het |
Brinp1 |
A |
G |
4: 68,681,184 (GRCm39) |
S449P |
probably damaging |
Het |
Ccdc40 |
A |
G |
11: 119,153,943 (GRCm39) |
T1072A |
probably benign |
Het |
Cul7 |
A |
G |
17: 46,972,567 (GRCm39) |
Y1250C |
probably damaging |
Het |
Dock3 |
T |
C |
9: 106,829,554 (GRCm39) |
D1120G |
probably damaging |
Het |
Gfod1 |
A |
G |
13: 43,354,621 (GRCm39) |
M118T |
probably benign |
Het |
Ints5 |
A |
G |
19: 8,874,143 (GRCm39) |
T701A |
probably benign |
Het |
Map4k2 |
G |
T |
19: 6,391,958 (GRCm39) |
E91* |
probably null |
Het |
Mast4 |
T |
A |
13: 102,910,695 (GRCm39) |
E457D |
probably damaging |
Het |
Mettl4 |
T |
C |
17: 95,040,576 (GRCm39) |
D404G |
probably damaging |
Het |
Mgat4a |
A |
G |
1: 37,503,614 (GRCm39) |
F58L |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,146,454 (GRCm39) |
K1476E |
probably damaging |
Het |
Myl7 |
T |
C |
11: 5,846,684 (GRCm39) |
E175G |
probably damaging |
Het |
Myo18a |
A |
G |
11: 77,668,596 (GRCm39) |
E152G |
probably benign |
Het |
Ncan |
G |
A |
8: 70,565,463 (GRCm39) |
T187I |
probably benign |
Het |
Nfatc3 |
A |
G |
8: 106,835,087 (GRCm39) |
Y803C |
probably damaging |
Het |
Nlrp4f |
T |
C |
13: 65,338,660 (GRCm39) |
Y659C |
probably damaging |
Het |
Noxred1 |
T |
C |
12: 87,273,820 (GRCm39) |
T74A |
probably benign |
Het |
Ntrk2 |
A |
T |
13: 59,202,248 (GRCm39) |
M619L |
probably benign |
Het |
Or5w18 |
A |
T |
2: 87,633,159 (GRCm39) |
N142I |
probably benign |
Het |
Orc4 |
A |
G |
2: 48,823,111 (GRCm39) |
V120A |
probably benign |
Het |
Polq |
T |
A |
16: 36,894,301 (GRCm39) |
Y2037N |
probably damaging |
Het |
Rimbp2 |
A |
G |
5: 128,880,908 (GRCm39) |
C160R |
probably damaging |
Het |
Rps6ka4 |
T |
C |
19: 6,807,468 (GRCm39) |
S721G |
possibly damaging |
Het |
Skap2 |
C |
T |
6: 51,898,310 (GRCm39) |
R140Q |
probably damaging |
Het |
Srprb |
C |
T |
9: 103,074,755 (GRCm39) |
R838H |
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 |
|
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 |
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'- CATGTGGTTATGAGACATTCAGAGG -3'
(R):5'- CCTACCAGCTGATGTGCTAC -3'
Sequencing Primer
(F):5'- TGTAAAATCAAGGACATGAGTGATAG -3'
(R):5'- TGCTACTATACCAGCTGGGCTAAG -3'
|
Posted On |
2014-11-11 |