Incidental Mutation 'R4483:Chil4'
| ID |
331489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chil4
|
| Ensembl Gene |
ENSMUSG00000063779 |
| Gene Name |
chitinase-like 4 |
| Synonyms |
Chi3l4, Ym2 |
| MMRRC Submission |
041739-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4483 (G1)
|
| Quality Score |
122 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
106108807-106126795 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106121678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 57
(A57V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082219]
|
| AlphaFold |
Q91Z98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082219
AA Change: A57V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080851
Gene: ENSMUSG00000063779
AA Change: A57V
| 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
|
| Meta Mutation Damage Score |
0.7116 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,567,349 (GRCm39) |
G5275S |
probably benign |
Het |
| Akap11 |
A |
G |
14: 78,747,699 (GRCm39) |
S1563P |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,511,680 (GRCm39) |
V229A |
probably damaging |
Het |
| AW112010 |
A |
G |
19: 11,027,757 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc158 |
A |
G |
5: 92,781,187 (GRCm39) |
S873P |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,802,214 (GRCm39) |
V1104A |
probably benign |
Het |
| Cpa5 |
A |
G |
6: 30,624,625 (GRCm39) |
E155G |
probably damaging |
Het |
| Ctsq |
T |
C |
13: 61,186,726 (GRCm39) |
I93V |
probably benign |
Het |
| Dbi |
A |
T |
1: 120,048,535 (GRCm39) |
I37K |
probably benign |
Het |
| Defa35 |
T |
C |
8: 21,555,208 (GRCm39) |
S43P |
probably damaging |
Het |
| Fance |
T |
A |
17: 28,534,781 (GRCm39) |
|
probably benign |
Het |
| Fbxl6 |
A |
G |
15: 76,422,129 (GRCm39) |
L180P |
probably damaging |
Het |
| Fkbpl |
T |
C |
17: 34,865,269 (GRCm39) |
F346L |
probably damaging |
Het |
| Gm11735 |
C |
A |
11: 116,632,101 (GRCm39) |
|
noncoding transcript |
Het |
| Gm28042 |
T |
C |
2: 119,866,321 (GRCm39) |
I373T |
possibly damaging |
Het |
| Golga4 |
T |
C |
9: 118,343,254 (GRCm39) |
S27P |
probably damaging |
Het |
| Gstm1 |
C |
T |
3: 107,923,834 (GRCm39) |
|
probably null |
Het |
| Lama3 |
T |
A |
18: 12,682,310 (GRCm39) |
I1092K |
probably benign |
Het |
| Med15 |
A |
T |
16: 17,489,428 (GRCm39) |
|
probably benign |
Het |
| Nlrp6 |
A |
G |
7: 140,501,694 (GRCm39) |
D87G |
probably damaging |
Het |
| Parp11 |
A |
G |
6: 127,448,568 (GRCm39) |
T62A |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,237,317 (GRCm39) |
L1323S |
probably damaging |
Het |
| Ppp2r1a |
C |
T |
17: 21,176,072 (GRCm39) |
T98I |
probably benign |
Het |
| Pramel11 |
T |
A |
4: 143,622,410 (GRCm39) |
Y315F |
probably damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,844,930 (GRCm39) |
H152L |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,455,104 (GRCm39) |
S662P |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Tnfaip3 |
A |
T |
10: 18,887,375 (GRCm39) |
M50K |
probably damaging |
Het |
| Txlnb |
T |
TTA |
10: 17,714,745 (GRCm39) |
|
probably null |
Het |
| Usp9x |
A |
G |
X: 12,987,687 (GRCm39) |
D638G |
possibly damaging |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,118 (GRCm39) |
V238E |
probably damaging |
Het |
| Zfp507 |
A |
G |
7: 35,487,141 (GRCm39) |
|
probably null |
Het |
| Zfp532 |
G |
T |
18: 65,789,636 (GRCm39) |
W1025L |
probably benign |
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 |
|
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'- CTCCTGACTAGAAAATGGCTGATGC -3'
Sequencing Primer
(F):5'- AGCCTGTCTCAATTTAAAACTGAAG -3'
(R):5'- GATCATAAAGGCAAAATTGTTAGCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation