Incidental Mutation 'R6214:Chia1'
| ID |
503607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chia1
|
| Ensembl Gene |
ENSMUSG00000062778 |
| Gene Name |
chitinase, acidic 1 |
| Synonyms |
AMCase, 2200003E03Rik, Chia, YNL |
| MMRRC Submission |
044347-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.475)
|
| Stock # |
R6214 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
106020698-106039434 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106029761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 132
(F132L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079132]
[ENSMUST00000139086]
|
| AlphaFold |
Q91XA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079132
AA Change: F132L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078134
Gene: ENSMUSG00000062778
AA Change: F132L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Glyco_18
|
22 |
365 |
1.82e-161 |
SMART |
|
ChtBD2
|
425 |
473 |
2.06e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139086
AA Change: F72L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121967
Gene: ENSMUSG00000062778
AA Change: F72L
| Domain | Start | End | E-Value | Type |
|---|
|
Glyco_18
|
3 |
215 |
2.24e-47 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143128
|
| Meta Mutation Damage Score |
0.6944 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap3 |
A |
C |
4: 135,968,736 (GRCm39) |
D727A |
possibly damaging |
Het |
| Aste1 |
A |
G |
9: 105,274,056 (GRCm39) |
K38E |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,070,159 (GRCm39) |
Y909C |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cd79b |
C |
A |
11: 106,203,267 (GRCm39) |
|
probably null |
Het |
| Cntrl |
A |
G |
2: 35,019,646 (GRCm39) |
E491G |
probably benign |
Het |
| Ctdnep1 |
T |
C |
11: 69,880,334 (GRCm39) |
F206L |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,303,945 (GRCm39) |
K1320E |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,668,463 (GRCm39) |
C573F |
possibly damaging |
Het |
| Dmtn |
A |
G |
14: 70,850,776 (GRCm39) |
I205T |
probably benign |
Het |
| Eif4g3 |
C |
T |
4: 137,785,314 (GRCm39) |
H137Y |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,109,166 (GRCm39) |
C398F |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,380,257 (GRCm39) |
D604G |
probably damaging |
Het |
| Glis2 |
T |
A |
16: 4,428,197 (GRCm39) |
L83* |
probably null |
Het |
| Glra3 |
A |
G |
8: 56,444,291 (GRCm39) |
|
probably null |
Het |
| Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
| Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
| Lrrc9 |
A |
T |
12: 72,506,627 (GRCm39) |
E301D |
probably damaging |
Het |
| Ms4a6c |
T |
C |
19: 11,448,500 (GRCm39) |
I11T |
possibly damaging |
Het |
| Myo1d |
A |
T |
11: 80,670,617 (GRCm39) |
M1K |
probably null |
Het |
| Nav3 |
A |
G |
10: 109,688,426 (GRCm39) |
L617P |
probably damaging |
Het |
| Or8b3b |
A |
G |
9: 38,584,510 (GRCm39) |
S90P |
probably benign |
Het |
| Pcsk7 |
A |
C |
9: 45,821,674 (GRCm39) |
N156T |
possibly damaging |
Het |
| Pde4d |
C |
T |
13: 110,085,967 (GRCm39) |
S515L |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,824,717 (GRCm39) |
I554T |
probably damaging |
Het |
| Prom2 |
A |
G |
2: 127,381,695 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,325,380 (GRCm39) |
I1046V |
probably benign |
Het |
| Slc13a1 |
A |
T |
6: 24,090,795 (GRCm39) |
Y541* |
probably null |
Het |
| Speer1d |
C |
T |
5: 11,307,197 (GRCm39) |
T25I |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,206,423 (GRCm39) |
E735K |
unknown |
Het |
| Tm6sf2 |
T |
C |
8: 70,525,724 (GRCm39) |
V27A |
possibly damaging |
Het |
| Trim21 |
A |
G |
7: 102,208,646 (GRCm39) |
S358P |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,710,552 (GRCm39) |
|
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,602,820 (GRCm39) |
Q525R |
probably benign |
Het |
| Vsig10 |
G |
A |
5: 117,481,989 (GRCm39) |
C393Y |
probably damaging |
Het |
| Ywhag |
A |
G |
5: 135,939,928 (GRCm39) |
I222T |
probably damaging |
Het |
|
| Other mutations in Chia1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01917:Chia1
|
APN |
3 |
106,035,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Pet
|
UTSW |
3 |
106,036,338 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0004:Chia1
|
UTSW |
3 |
106,036,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0011:Chia1
|
UTSW |
3 |
106,038,290 (GRCm39) |
unclassified |
probably benign |
|
|
R0047:Chia1
|
UTSW |
3 |
106,022,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0345:Chia1
|
UTSW |
3 |
106,029,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0456:Chia1
|
UTSW |
3 |
106,035,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0638:Chia1
|
UTSW |
3 |
106,035,753 (GRCm39) |
splice site |
probably benign |
|
|
R0847:Chia1
|
UTSW |
3 |
106,039,253 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1055:Chia1
|
UTSW |
3 |
106,038,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1401:Chia1
|
UTSW |
3 |
106,036,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1513:Chia1
|
UTSW |
3 |
106,039,220 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1846:Chia1
|
UTSW |
3 |
106,038,181 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1882:Chia1
|
UTSW |
3 |
106,035,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1914:Chia1
|
UTSW |
3 |
106,035,875 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1915:Chia1
|
UTSW |
3 |
106,035,875 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2107:Chia1
|
UTSW |
3 |
106,036,156 (GRCm39) |
nonsense |
probably null |
|
|
R3969:Chia1
|
UTSW |
3 |
106,028,951 (GRCm39) |
splice site |
probably null |
|
|
R3970:Chia1
|
UTSW |
3 |
106,028,951 (GRCm39) |
splice site |
probably null |
|
|
R4112:Chia1
|
UTSW |
3 |
106,035,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4432:Chia1
|
UTSW |
3 |
106,022,641 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4625:Chia1
|
UTSW |
3 |
106,036,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4748:Chia1
|
UTSW |
3 |
106,029,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5805:Chia1
|
UTSW |
3 |
106,035,792 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5906:Chia1
|
UTSW |
3 |
106,039,304 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6173:Chia1
|
UTSW |
3 |
106,036,338 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6215:Chia1
|
UTSW |
3 |
106,029,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6225:Chia1
|
UTSW |
3 |
106,038,213 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6383:Chia1
|
UTSW |
3 |
106,039,127 (GRCm39) |
missense |
probably benign |
|
|
R6423:Chia1
|
UTSW |
3 |
106,036,304 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6668:Chia1
|
UTSW |
3 |
106,038,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Chia1
|
UTSW |
3 |
106,038,056 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7030:Chia1
|
UTSW |
3 |
106,022,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7221:Chia1
|
UTSW |
3 |
106,039,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7265:Chia1
|
UTSW |
3 |
106,036,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7343:Chia1
|
UTSW |
3 |
106,039,331 (GRCm39) |
makesense |
probably null |
|
|
R7420:Chia1
|
UTSW |
3 |
106,037,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8933:Chia1
|
UTSW |
3 |
106,036,333 (GRCm39) |
nonsense |
probably null |
|
|
R9031:Chia1
|
UTSW |
3 |
106,035,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9289:Chia1
|
UTSW |
3 |
106,022,502 (GRCm39) |
start gained |
probably benign |
|
|
R9307:Chia1
|
UTSW |
3 |
106,035,991 (GRCm39) |
intron |
probably benign |
|
|
R9581:Chia1
|
UTSW |
3 |
106,035,879 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9681:Chia1
|
UTSW |
3 |
106,037,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGCTGAGGTACTGTGGC -3'
(R):5'- CAAGCACCTGGTCCTCATTG -3'
Sequencing Primer
(F):5'- GGATAGCCCTGGAATACACTTTAGTC -3'
(R):5'- AGAGATGCTTGTCCTGAG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation