Incidental Mutation 'R9730:Chil5'
| ID |
735998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chil5
|
| Ensembl Gene |
ENSMUSG00000043873 |
| Gene Name |
chitinase-like 5 |
| Synonyms |
Chi3l7, Bclp2, Bclp1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R9730 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
105924235-105940130 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105926470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 120
(T120A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010280]
[ENSMUST00000066537]
[ENSMUST00000200146]
|
| AlphaFold |
A0A0G2JDS2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010280
|
| SMART Domains |
Protein: ENSMUSP00000010280
Gene: ENSMUSG00000010136
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SHIPPO-rpt
|
183 |
209 |
5.2e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054973
|
| SMART Domains |
Protein: ENSMUSP00000052345
Gene: ENSMUSG00000043873
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_18
|
1 |
156 |
5.4e-45 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066537
AA Change: T120A
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000065043
Gene: ENSMUSG00000043873
AA Change: T120A
| Domain | Start | End | E-Value | Type |
|---|
|
Glyco_18
|
1 |
174 |
2.61e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200146
AA Change: T300A
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000142477
Gene: ENSMUSG00000043873
AA Change: T300A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Glyco_18
|
22 |
365 |
2.1e-133 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
G |
A |
17: 45,829,534 (GRCm39) |
R807Q |
probably benign |
Het |
| Alms1 |
G |
A |
6: 85,606,420 (GRCm39) |
R2221Q |
probably benign |
Het |
| Alox12 |
C |
T |
11: 70,140,920 (GRCm39) |
A372T |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,019,493 (GRCm39) |
M2V |
|
Het |
| Cdon |
A |
G |
9: 35,398,263 (GRCm39) |
I993M |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,632,979 (GRCm39) |
H157R |
probably damaging |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cyp39a1 |
A |
G |
17: 43,991,029 (GRCm39) |
N113D |
probably benign |
Het |
| Dact3 |
A |
G |
7: 16,609,540 (GRCm39) |
E64G |
possibly damaging |
Het |
| Dennd3 |
A |
G |
15: 73,426,959 (GRCm39) |
K779E |
probably damaging |
Het |
| Etnppl |
C |
T |
3: 130,415,958 (GRCm39) |
A115V |
probably damaging |
Het |
| Exoc6 |
C |
T |
19: 37,588,032 (GRCm39) |
T555I |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,688,395 (GRCm39) |
T419A |
probably damaging |
Het |
| Hcn4 |
G |
T |
9: 58,731,493 (GRCm39) |
M233I |
unknown |
Het |
| Hgfac |
T |
C |
5: 35,204,282 (GRCm39) |
V515A |
probably damaging |
Het |
| Hikeshi |
T |
C |
7: 89,569,371 (GRCm39) |
Y150C |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,839,423 (GRCm39) |
Y645C |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,401,124 (GRCm39) |
I521T |
possibly damaging |
Het |
| Ldhal6b |
A |
G |
17: 5,468,094 (GRCm39) |
V280A |
possibly damaging |
Het |
| Map1s |
C |
T |
8: 71,369,178 (GRCm39) |
A909V |
possibly damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Or5b106 |
T |
A |
19: 13,123,747 (GRCm39) |
Y92F |
possibly damaging |
Het |
| Plaa |
G |
A |
4: 94,466,660 (GRCm39) |
P484S |
probably benign |
Het |
| Ppp1r3a |
G |
T |
6: 14,721,923 (GRCm39) |
A301D |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,858,659 (GRCm39) |
S1544P |
possibly damaging |
Het |
| Scara3 |
A |
G |
14: 66,168,261 (GRCm39) |
V452A |
probably damaging |
Het |
| Slc12a9 |
T |
A |
5: 137,325,732 (GRCm39) |
D293V |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,783,004 (GRCm39) |
N1101S |
unknown |
Het |
| Spocd1 |
A |
G |
4: 129,850,305 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,757,552 (GRCm39) |
D865E |
probably damaging |
Het |
| Trim21 |
T |
C |
7: 102,213,247 (GRCm39) |
D17G |
probably benign |
Het |
| Try4 |
A |
T |
6: 41,281,996 (GRCm39) |
D194V |
probably damaging |
Het |
| Zfp30 |
A |
G |
7: 29,492,139 (GRCm39) |
E212G |
probably damaging |
Het |
| Zfp445 |
A |
C |
9: 122,681,490 (GRCm39) |
I817R |
probably damaging |
Het |
| Zfp534 |
A |
T |
4: 147,759,378 (GRCm39) |
H430Q |
probably damaging |
Het |
|
| Other mutations in Chil5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01812:Chil5
|
APN |
3 |
105,924,468 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02959:Chil5
|
APN |
3 |
105,926,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Chil5
|
UTSW |
3 |
105,926,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0409:Chil5
|
UTSW |
3 |
105,942,282 (GRCm39) |
unclassified |
probably benign |
|
|
R0635:Chil5
|
UTSW |
3 |
105,924,519 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1403:Chil5
|
UTSW |
3 |
105,925,409 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1403:Chil5
|
UTSW |
3 |
105,925,409 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3500:Chil5
|
UTSW |
3 |
105,925,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4426:Chil5
|
UTSW |
3 |
105,926,943 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4680:Chil5
|
UTSW |
3 |
105,942,191 (GRCm39) |
unclassified |
probably benign |
|
|
R4998:Chil5
|
UTSW |
3 |
105,927,248 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5045:Chil5
|
UTSW |
3 |
105,931,456 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5113:Chil5
|
UTSW |
3 |
105,925,294 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5274:Chil5
|
UTSW |
3 |
105,936,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5627:Chil5
|
UTSW |
3 |
105,926,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6910:Chil5
|
UTSW |
3 |
105,926,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7476:Chil5
|
UTSW |
3 |
105,927,323 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8772:Chil5
|
UTSW |
3 |
105,925,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Chil5
|
UTSW |
3 |
105,936,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGGAGAGTTCTTGTATATTAAGCAC -3'
(R):5'- AACTAACCTTCTGCCACTGC -3'
Sequencing Primer
(F):5'- GAGTTCTTGTATATTAAGCACTCCTC -3'
(R):5'- GCAGGATTACATCATGACCTACTGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation