Incidental Mutation 'R9529:Chil4'
| ID |
719373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chil4
|
| Ensembl Gene |
ENSMUSG00000063779 |
| Gene Name |
chitinase-like 4 |
| Synonyms |
Chi3l4, Ym2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9529 (G1)
|
| Quality Score |
132.008 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
106108807-106126795 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106118656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 87
(N87Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082219]
|
| AlphaFold |
Q91Z98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082219
AA Change: N87Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080851
Gene: ENSMUSG00000063779
AA Change: N87Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Glyco_18
|
22 |
365 |
1.77e-132 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
C |
5: 113,331,682 (GRCm39) |
L844R |
possibly damaging |
Het |
| Aadacl4fm2 |
A |
G |
4: 144,282,082 (GRCm39) |
Y237H |
probably benign |
Het |
| Abca8a |
A |
T |
11: 109,947,167 (GRCm39) |
Y1036* |
probably null |
Het |
| Abcg3 |
T |
C |
5: 105,121,973 (GRCm39) |
T135A |
probably damaging |
Het |
| Arhgef28 |
G |
A |
13: 98,213,773 (GRCm39) |
A30V |
probably damaging |
Het |
| Cald1 |
T |
A |
6: 34,662,947 (GRCm39) |
D3E |
probably damaging |
Het |
| Ccdc89 |
T |
A |
7: 90,076,573 (GRCm39) |
L261Q |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,171,231 (GRCm39) |
D411G |
possibly damaging |
Het |
| Ciita |
T |
A |
16: 10,328,640 (GRCm39) |
L308Q |
probably benign |
Het |
| Clptm1 |
T |
C |
7: 19,371,600 (GRCm39) |
I278V |
probably benign |
Het |
| Col5a3 |
A |
T |
9: 20,685,308 (GRCm39) |
|
probably null |
Het |
| Ddost |
T |
A |
4: 138,038,780 (GRCm39) |
D336E |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,561,495 (GRCm39) |
Y2054C |
probably damaging |
Het |
| Erc2 |
T |
A |
14: 28,197,723 (GRCm39) |
L1000H |
unknown |
Het |
| Fhip2b |
T |
C |
14: 70,822,579 (GRCm39) |
E714G |
probably damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,610,793 (GRCm39) |
V71A |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,545,175 (GRCm39) |
Y2811H |
probably damaging |
Het |
| Hmox2 |
C |
T |
16: 4,582,818 (GRCm39) |
Q184* |
probably null |
Het |
| Igkv9-124 |
G |
T |
6: 67,919,280 (GRCm39) |
T44N |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,737,649 (GRCm39) |
T5149I |
unknown |
Het |
| Lamb2 |
T |
A |
9: 108,363,477 (GRCm39) |
D885E |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,407,680 (GRCm39) |
S220P |
probably damaging |
Het |
| Muc2 |
A |
T |
7: 141,287,453 (GRCm39) |
T211S |
possibly damaging |
Het |
| Mup13 |
A |
T |
4: 61,184,117 (GRCm39) |
C15S |
possibly damaging |
Het |
| Myh3 |
T |
C |
11: 66,979,556 (GRCm39) |
|
probably null |
Het |
| Nek10 |
A |
G |
14: 14,850,833 (GRCm38) |
I293V |
probably benign |
Het |
| Or10d3 |
G |
A |
9: 39,461,723 (GRCm39) |
T148I |
probably benign |
Het |
| Or2a52 |
T |
A |
6: 43,144,432 (GRCm39) |
S147T |
possibly damaging |
Het |
| Or6c68 |
A |
G |
10: 129,158,205 (GRCm39) |
T238A |
probably damaging |
Het |
| Pdss2 |
G |
A |
10: 43,269,990 (GRCm39) |
V278I |
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,431,518 (GRCm39) |
K748R |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,174,519 (GRCm39) |
|
probably null |
Het |
| Ranbp17 |
G |
A |
11: 33,424,826 (GRCm39) |
S510L |
unknown |
Het |
| Rp1 |
T |
A |
1: 4,416,447 (GRCm39) |
H1555L |
probably benign |
Het |
| Rsph6a |
A |
G |
7: 18,799,535 (GRCm39) |
K389E |
probably benign |
Het |
| Ryk |
T |
C |
9: 102,746,518 (GRCm39) |
V151A |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,465,660 (GRCm39) |
N4838I |
possibly damaging |
Het |
| Sbno1 |
G |
A |
5: 124,517,413 (GRCm39) |
R1233* |
probably null |
Het |
| Scn2a |
A |
T |
2: 65,594,932 (GRCm39) |
K1927M |
probably damaging |
Het |
| Sec22c |
A |
T |
9: 121,513,860 (GRCm39) |
I259N |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,240,583 (GRCm39) |
D402V |
probably benign |
Het |
| Stk38 |
G |
A |
17: 29,207,210 (GRCm39) |
T111I |
probably damaging |
Het |
| Tmem237 |
G |
A |
1: 59,147,215 (GRCm39) |
T306I |
probably damaging |
Het |
| Tmprss11a |
T |
C |
5: 86,576,501 (GRCm39) |
K117E |
probably benign |
Het |
| Tmprss9 |
A |
T |
10: 80,730,640 (GRCm39) |
D722V |
probably damaging |
Het |
| Trpc1 |
T |
C |
9: 95,592,250 (GRCm39) |
Y575C |
probably damaging |
Het |
| Ube2d2b |
A |
G |
5: 107,978,438 (GRCm39) |
M30V |
probably benign |
Het |
| Usp36 |
A |
T |
11: 118,159,461 (GRCm39) |
L661* |
probably null |
Het |
| Vmn2r13 |
G |
T |
5: 109,304,064 (GRCm39) |
T789N |
probably damaging |
Het |
| Vmn2r5 |
T |
C |
3: 64,400,018 (GRCm39) |
T550A |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,355,540 (GRCm39) |
S3434P |
possibly damaging |
Het |
| Zfp106 |
A |
G |
2: 120,351,007 (GRCm39) |
V1571A |
probably damaging |
Het |
| Zfp438 |
A |
G |
18: 5,213,501 (GRCm39) |
S486P |
possibly damaging |
Het |
| Zfp616 |
A |
G |
11: 73,975,660 (GRCm39) |
H643R |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,976,596 (GRCm39) |
K955R |
possibly 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 |
|
|
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 |
|
|
X0067:Chil4
|
UTSW |
3 |
106,113,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATGCATCCCAAAATATTAGGAC -3'
(R):5'- GTAGTCACTACACTACTTGGTAAACAC -3'
Sequencing Primer
(F):5'- GCATCCCAAAATATTAGGACAAATG -3'
(R):5'- AGTAGCCTGCGCTTAAAGTATG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation