Incidental Mutation 'R4301:Chil4'
| ID |
322405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chil4
|
| Ensembl Gene |
ENSMUSG00000063779 |
| Gene Name |
chitinase-like 4 |
| Synonyms |
Ym2, Chi3l4 |
| MMRRC Submission |
041088-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4301 (G1)
|
| Quality Score |
129 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
106201490-106219507 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106203727 bp (GRCm38)
|
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
A |
16: 56,556,903 (GRCm38) |
V95D |
probably damaging |
Het |
| Adamtsl2 |
A |
G |
2: 27,087,283 (GRCm38) |
D252G |
probably null |
Het |
| Adgra3 |
T |
C |
5: 49,961,078 (GRCm38) |
R1043G |
possibly damaging |
Het |
| Atxn7l1 |
A |
G |
12: 33,367,238 (GRCm38) |
D562G |
probably damaging |
Het |
| Ccdc70 |
T |
C |
8: 21,973,212 (GRCm38) |
V6A |
possibly damaging |
Het |
| Cdc25a |
T |
C |
9: 109,889,742 (GRCm38) |
V337A |
probably benign |
Het |
| Crb1 |
A |
G |
1: 139,248,830 (GRCm38) |
S472P |
probably benign |
Het |
| Fam193b |
G |
A |
13: 55,542,604 (GRCm38) |
R740* |
probably null |
Het |
| Fer |
G |
T |
17: 64,078,910 (GRCm38) |
L292F |
probably damaging |
Het |
| Gmppa |
G |
A |
1: 75,442,496 (GRCm38) |
R349H |
possibly damaging |
Het |
| Hspa1a |
T |
C |
17: 34,970,506 (GRCm38) |
I474V |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 52,725,906 (GRCm38) |
74 |
probably benign |
Het |
| Lrrc30 |
A |
G |
17: 67,632,568 (GRCm38) |
S6P |
probably damaging |
Het |
| Lzts3 |
A |
G |
2: 130,636,438 (GRCm38) |
S133P |
probably damaging |
Het |
| Mrtfb |
T |
C |
16: 13,398,305 (GRCm38) |
Y294H |
probably damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,236,020 (GRCm38) |
F122I |
possibly damaging |
Het |
| Mypn |
A |
G |
10: 63,118,484 (GRCm38) |
Y124H |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 107,355,695 (GRCm38) |
|
probably benign |
Het |
| Npr2 |
T |
C |
4: 43,641,332 (GRCm38) |
|
probably null |
Het |
| Or5a3 |
T |
C |
19: 12,422,717 (GRCm38) |
L136P |
probably damaging |
Het |
| Pgm1 |
G |
A |
5: 64,103,797 (GRCm38) |
W51* |
probably null |
Het |
| Phip |
G |
A |
9: 82,959,713 (GRCm38) |
R48* |
probably null |
Het |
| Piezo2 |
T |
C |
18: 63,084,840 (GRCm38) |
T1075A |
probably damaging |
Het |
| Ppat |
G |
T |
5: 76,928,501 (GRCm38) |
|
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,898,746 (GRCm38) |
E23D |
probably null |
Het |
| Prickle1 |
T |
C |
15: 93,508,636 (GRCm38) |
I169V |
possibly damaging |
Het |
| Rab37 |
T |
A |
11: 115,158,564 (GRCm38) |
D95E |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,751,470 (GRCm38) |
V50A |
probably benign |
Het |
| Siae |
C |
A |
9: 37,633,713 (GRCm38) |
Q335K |
possibly damaging |
Het |
| Snx14 |
A |
T |
9: 88,410,623 (GRCm38) |
I217K |
probably damaging |
Het |
| Son |
A |
G |
16: 91,658,411 (GRCm38) |
T1349A |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,612,697 (GRCm38) |
L1143S |
probably damaging |
Het |
| Trim80 |
T |
C |
11: 115,445,113 (GRCm38) |
|
probably null |
Het |
| Trpm3 |
T |
C |
19: 22,987,292 (GRCm38) |
S1374P |
probably benign |
Het |
| Vldlr |
C |
A |
19: 27,238,402 (GRCm38) |
D266E |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 87,001,891 (GRCm38) |
H166R |
possibly damaging |
Het |
| Zbtb10 |
A |
T |
3: 9,265,160 (GRCm38) |
Q526L |
probably damaging |
Het |
| Zfr2 |
T |
C |
10: 81,242,184 (GRCm38) |
|
probably benign |
Het |
| Zswim8 |
G |
A |
14: 20,713,909 (GRCm38) |
R449H |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,889,035 (GRCm38) |
V1878A |
probably damaging |
Het |
|
| Other mutations in Chil4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00778:Chil4
|
APN |
3 |
106,201,797 (GRCm38) |
missense |
probably benign |
|
|
IGL02457:Chil4
|
APN |
3 |
106,214,399 (GRCm38) |
missense |
probably benign |
|
|
R1087:Chil4
|
UTSW |
3 |
106,210,565 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1398:Chil4
|
UTSW |
3 |
106,219,509 (GRCm38) |
splice site |
probably null |
|
|
R1503:Chil4
|
UTSW |
3 |
106,206,034 (GRCm38) |
missense |
probably benign |
|
|
R1553:Chil4
|
UTSW |
3 |
106,203,690 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1806:Chil4
|
UTSW |
3 |
106,210,643 (GRCm38) |
splice site |
probably benign |
|
|
R1873:Chil4
|
UTSW |
3 |
106,206,098 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2069:Chil4
|
UTSW |
3 |
106,219,455 (GRCm38) |
missense |
probably benign |
0.16 |
|
R2100:Chil4
|
UTSW |
3 |
106,214,347 (GRCm38) |
missense |
probably benign |
|
|
R2370:Chil4
|
UTSW |
3 |
106,214,300 (GRCm38) |
nonsense |
probably null |
|
|
R2984:Chil4
|
UTSW |
3 |
106,203,727 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2985:Chil4
|
UTSW |
3 |
106,203,727 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3522:Chil4
|
UTSW |
3 |
106,203,740 (GRCm38) |
missense |
probably benign |
0.08 |
|
R3919:Chil4
|
UTSW |
3 |
106,202,532 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4033:Chil4
|
UTSW |
3 |
106,214,449 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4181:Chil4
|
UTSW |
3 |
106,203,727 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4184:Chil4
|
UTSW |
3 |
106,203,727 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4347:Chil4
|
UTSW |
3 |
106,202,828 (GRCm38) |
missense |
probably benign |
|
|
R4391:Chil4
|
UTSW |
3 |
106,203,727 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4395:Chil4
|
UTSW |
3 |
106,203,727 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4418:Chil4
|
UTSW |
3 |
106,203,727 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4483:Chil4
|
UTSW |
3 |
106,214,362 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4544:Chil4
|
UTSW |
3 |
106,210,606 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4887:Chil4
|
UTSW |
3 |
106,204,144 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4949:Chil4
|
UTSW |
3 |
106,206,092 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5076:Chil4
|
UTSW |
3 |
106,202,597 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5146:Chil4
|
UTSW |
3 |
106,202,834 (GRCm38) |
missense |
probably benign |
0.18 |
|
R5254:Chil4
|
UTSW |
3 |
106,219,452 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5521:Chil4
|
UTSW |
3 |
106,203,697 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R5790:Chil4
|
UTSW |
3 |
106,202,578 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5883:Chil4
|
UTSW |
3 |
106,210,570 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R6010:Chil4
|
UTSW |
3 |
106,214,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6257:Chil4
|
UTSW |
3 |
106,204,096 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R6269:Chil4
|
UTSW |
3 |
106,204,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6602:Chil4
|
UTSW |
3 |
106,210,590 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7113:Chil4
|
UTSW |
3 |
106,214,348 (GRCm38) |
missense |
probably benign |
|
|
R7113:Chil4
|
UTSW |
3 |
106,202,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7188:Chil4
|
UTSW |
3 |
106,204,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7980:Chil4
|
UTSW |
3 |
106,202,744 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8810:Chil4
|
UTSW |
3 |
106,201,805 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9300:Chil4
|
UTSW |
3 |
106,202,558 (GRCm38) |
missense |
probably benign |
0.10 |
|
R9307:Chil4
|
UTSW |
3 |
106,204,066 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9529:Chil4
|
UTSW |
3 |
106,211,340 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0067:Chil4
|
UTSW |
3 |
106,206,034 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGTTGTATCTGCTTAGGAAGAG -3'
(R):5'- TCACACAATTTGAGATACAAGAGGG -3'
Sequencing Primer
(F):5'- TCTGCTTAGGAAGAGTACATACTG -3'
(R):5'- AGGGGAGAACTAACCTATATAAACAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation