Incidental Mutation 'R5883:Chil4'
ID |
454508 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chil4
|
Ensembl Gene |
ENSMUSG00000063779 |
Gene Name |
chitinase-like 4 |
Synonyms |
Chi3l4, Ym2 |
MMRRC Submission |
044086-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5883 (G1)
|
Quality Score |
188 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
106108807-106126795 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 106117886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 128
(R128H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082219]
|
AlphaFold |
Q91Z98 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082219
AA Change: R128H
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000080851 Gene: ENSMUSG00000063779 AA Change: R128H
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 |
0.0877 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 95.9%
- 20x: 83.7%
|
Validation Efficiency |
100% (70/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430548M08Rik |
G |
A |
8: 120,872,380 (GRCm39) |
V103I |
possibly damaging |
Het |
Aass |
G |
A |
6: 23,072,993 (GRCm39) |
T920I |
probably benign |
Het |
Akirin2 |
A |
G |
4: 34,565,256 (GRCm39) |
I168V |
possibly damaging |
Het |
Ambn |
T |
A |
5: 88,615,688 (GRCm39) |
Y372* |
probably null |
Het |
Ano3 |
T |
A |
2: 110,711,209 (GRCm39) |
E85V |
probably null |
Het |
Bmf |
C |
T |
2: 118,377,447 (GRCm39) |
|
silent |
Het |
Bmper |
T |
A |
9: 23,317,970 (GRCm39) |
S530T |
probably benign |
Het |
Bop1 |
T |
C |
15: 76,339,049 (GRCm39) |
D383G |
probably damaging |
Het |
Bub1b |
T |
A |
2: 118,440,363 (GRCm39) |
Y156N |
probably damaging |
Het |
Cacna1h |
A |
G |
17: 25,595,896 (GRCm39) |
V1987A |
probably benign |
Het |
Cd84 |
T |
C |
1: 171,700,405 (GRCm39) |
V174A |
possibly damaging |
Het |
Cep290 |
T |
A |
10: 100,359,261 (GRCm39) |
L997Q |
probably benign |
Het |
Cpne3 |
A |
T |
4: 19,552,314 (GRCm39) |
V106D |
possibly damaging |
Het |
D6Wsu163e |
A |
G |
6: 126,943,879 (GRCm39) |
E425G |
probably damaging |
Het |
Dlgap1 |
A |
T |
17: 70,824,008 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
C |
A |
7: 105,369,711 (GRCm39) |
H4379N |
probably damaging |
Het |
Gm10309 |
A |
G |
17: 86,806,185 (GRCm39) |
|
probably benign |
Het |
Gm6264 |
G |
A |
1: 85,148,903 (GRCm39) |
|
probably benign |
Het |
Has2 |
T |
A |
15: 56,531,459 (GRCm39) |
I419F |
possibly damaging |
Het |
Hscb |
A |
G |
5: 110,987,444 (GRCm39) |
C51R |
probably benign |
Het |
Ighv1-61 |
T |
C |
12: 115,323,183 (GRCm39) |
S4G |
probably benign |
Het |
Islr2 |
G |
T |
9: 58,105,998 (GRCm39) |
Q465K |
probably benign |
Het |
Jakmip2 |
T |
C |
18: 43,715,059 (GRCm39) |
I156V |
possibly damaging |
Het |
Klk1b24 |
A |
G |
7: 43,839,787 (GRCm39) |
I49V |
probably benign |
Het |
Krt90 |
C |
T |
15: 101,461,654 (GRCm39) |
|
probably benign |
Het |
Larp1 |
C |
T |
11: 57,933,125 (GRCm39) |
S243F |
probably damaging |
Het |
Lrp4 |
T |
C |
2: 91,318,778 (GRCm39) |
Y872H |
probably benign |
Het |
Maip1 |
T |
C |
1: 57,446,260 (GRCm39) |
M110T |
probably damaging |
Het |
Marchf7 |
G |
A |
2: 60,064,786 (GRCm39) |
R354Q |
probably damaging |
Het |
Med12l |
G |
T |
3: 58,998,889 (GRCm39) |
E605D |
probably damaging |
Het |
Nt5c1a |
T |
A |
4: 123,110,049 (GRCm39) |
|
probably null |
Het |
Or2j6 |
T |
A |
7: 139,980,101 (GRCm39) |
Y286F |
probably damaging |
Het |
Or5ac25 |
A |
T |
16: 59,182,078 (GRCm39) |
C168S |
probably damaging |
Het |
Or5p66 |
C |
T |
7: 107,885,451 (GRCm39) |
S294N |
probably damaging |
Het |
Pdzd9 |
T |
A |
7: 120,267,776 (GRCm39) |
E13V |
possibly damaging |
Het |
Ppip5k2 |
C |
T |
1: 97,635,535 (GRCm39) |
A1100T |
possibly damaging |
Het |
Prkdc |
C |
A |
16: 15,533,778 (GRCm39) |
Q1539K |
probably benign |
Het |
Rad54l |
C |
G |
4: 115,956,243 (GRCm39) |
|
probably benign |
Het |
Ric1 |
T |
A |
19: 29,573,389 (GRCm39) |
I943N |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,995,651 (GRCm39) |
|
probably null |
Het |
Rpl12 |
T |
C |
2: 32,852,536 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,860,637 (GRCm39) |
|
probably benign |
Het |
Scarb1 |
C |
A |
5: 125,417,971 (GRCm39) |
|
probably benign |
Het |
Sox10 |
T |
C |
15: 79,040,463 (GRCm39) |
E359G |
probably damaging |
Het |
Taf5 |
A |
G |
19: 47,056,228 (GRCm39) |
T9A |
unknown |
Het |
Tmem128 |
C |
T |
5: 38,423,885 (GRCm39) |
A33V |
possibly damaging |
Het |
Tox |
A |
C |
4: 6,697,444 (GRCm39) |
V453G |
probably benign |
Het |
Ubxn4 |
T |
A |
1: 128,183,867 (GRCm39) |
C76S |
probably damaging |
Het |
Vmn2r100 |
A |
T |
17: 19,743,786 (GRCm39) |
Y483F |
probably benign |
Het |
Xkr5 |
A |
G |
8: 18,990,806 (GRCm39) |
S154P |
probably damaging |
Het |
Zfp687 |
T |
C |
3: 94,919,355 (GRCm39) |
N139S |
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 |
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 |
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'- CACAAACAGTGCTGAGATTCTAC -3'
(R):5'- TTCTCCAGAACAGACGGTTG -3'
Sequencing Primer
(F):5'- CAGTGCTGAGATTCTACAATTCTG -3'
(R):5'- CAGAACAGACGGTTGTTATATTTTGC -3'
|
Posted On |
2017-02-10 |