Incidental Mutation 'R1087:Chil4'
ID |
85061 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chil4
|
Ensembl Gene |
ENSMUSG00000063779 |
Gene Name |
chitinase-like 4 |
Synonyms |
Chi3l4, Ym2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1087 (G1)
|
Quality Score |
114 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
106108807-106126795 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106117881 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 130
(Y130H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082219]
|
AlphaFold |
Q91Z98 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000082219
AA Change: Y130H
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000080851 Gene: ENSMUSG00000063779 AA Change: Y130H
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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa11 |
A |
G |
14: 25,870,603 (GRCm39) |
M56V |
unknown |
Het |
Arid4a |
G |
A |
12: 71,122,112 (GRCm39) |
S509N |
probably benign |
Het |
Atp8b3 |
T |
C |
10: 80,356,017 (GRCm39) |
R1232G |
probably benign |
Het |
Axdnd1 |
T |
A |
1: 156,193,259 (GRCm39) |
M643L |
probably benign |
Het |
Bsph1 |
A |
G |
7: 13,206,106 (GRCm39) |
Y57C |
probably damaging |
Het |
Car13 |
G |
A |
3: 14,706,885 (GRCm39) |
W6* |
probably null |
Het |
Ccdc192 |
T |
C |
18: 57,863,870 (GRCm39) |
S225P |
probably damaging |
Het |
Ccng2 |
T |
C |
5: 93,421,303 (GRCm39) |
I271T |
probably benign |
Het |
Ces1f |
T |
A |
8: 93,984,923 (GRCm39) |
D468V |
probably damaging |
Het |
Clns1a |
T |
A |
7: 97,354,862 (GRCm39) |
H69Q |
possibly damaging |
Het |
Cnot11 |
T |
A |
1: 39,579,139 (GRCm39) |
S335T |
probably benign |
Het |
Dcaf11 |
A |
G |
14: 55,806,581 (GRCm39) |
S461G |
probably damaging |
Het |
Dlst |
G |
A |
12: 85,179,413 (GRCm39) |
M417I |
probably damaging |
Het |
Dock4 |
A |
C |
12: 40,779,937 (GRCm39) |
I612L |
probably benign |
Het |
Endod1 |
A |
G |
9: 14,268,489 (GRCm39) |
V332A |
possibly damaging |
Het |
F830045P16Rik |
T |
C |
2: 129,314,639 (GRCm39) |
T213A |
possibly damaging |
Het |
Gm5773 |
A |
T |
3: 93,681,065 (GRCm39) |
I246F |
probably damaging |
Het |
Gml2 |
T |
A |
15: 74,695,946 (GRCm39) |
D113E |
possibly damaging |
Het |
Grik1 |
T |
C |
16: 87,803,265 (GRCm39) |
E309G |
probably benign |
Het |
Hectd1 |
A |
T |
12: 51,823,355 (GRCm39) |
I1013K |
probably damaging |
Het |
Kcmf1 |
T |
C |
6: 72,835,863 (GRCm39) |
E22G |
probably damaging |
Het |
Kdm5b |
T |
A |
1: 134,528,375 (GRCm39) |
C361S |
probably damaging |
Het |
Kif21b |
T |
C |
1: 136,090,561 (GRCm39) |
S1150P |
probably damaging |
Het |
Man2b1 |
G |
A |
8: 85,821,800 (GRCm39) |
V701M |
probably damaging |
Het |
Marchf10 |
T |
C |
11: 105,281,488 (GRCm39) |
R266G |
probably damaging |
Het |
Milr1 |
A |
G |
11: 106,645,848 (GRCm39) |
Y130C |
probably damaging |
Het |
Nampt |
A |
G |
12: 32,883,042 (GRCm39) |
T76A |
possibly damaging |
Het |
Nek10 |
A |
G |
14: 14,827,059 (GRCm38) |
N86D |
possibly damaging |
Het |
Nms |
T |
G |
1: 38,983,192 (GRCm39) |
|
probably null |
Het |
Or10w1 |
T |
A |
19: 13,632,376 (GRCm39) |
C194* |
probably null |
Het |
Parp14 |
A |
G |
16: 35,678,658 (GRCm39) |
S437P |
probably damaging |
Het |
Pif1 |
A |
G |
9: 65,496,377 (GRCm39) |
M226V |
probably benign |
Het |
Rnf169 |
T |
C |
7: 99,592,204 (GRCm39) |
R216G |
probably benign |
Het |
Rorb |
T |
C |
19: 18,937,778 (GRCm39) |
K307R |
probably damaging |
Het |
Scube2 |
T |
C |
7: 109,430,882 (GRCm39) |
D439G |
probably damaging |
Het |
Serpinb8 |
T |
C |
1: 107,534,727 (GRCm39) |
V266A |
probably damaging |
Het |
Strip2 |
A |
G |
6: 29,927,633 (GRCm39) |
E226G |
probably damaging |
Het |
Trim23 |
A |
G |
13: 104,324,618 (GRCm39) |
D212G |
possibly damaging |
Het |
Vmn1r172 |
T |
A |
7: 23,359,673 (GRCm39) |
V186D |
possibly damaging |
Het |
Vwde |
A |
T |
6: 13,186,803 (GRCm39) |
C895S |
probably damaging |
Het |
Zswim8 |
C |
A |
14: 20,767,933 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- CAAGATGTTTCCTTTGTTGCCCCAG -3'
(R):5'- AATCAACTGTGAACTGTTTTGTGCCC -3'
Sequencing Primer
(F):5'- ggaaagttactcaaacactctctg -3'
(R):5'- CCAAGGTGTCCATGCCATAG -3'
|
Posted On |
2013-11-18 |