Incidental Mutation 'IGL02246:Carns1'
| ID |
286192 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Carns1
|
| Ensembl Gene |
ENSMUSG00000075289 |
| Gene Name |
carnosine synthase 1 |
| Synonyms |
Atpgd1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL02246
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4214323-4225478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4216431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 584
(N584Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025749]
[ENSMUST00000118483]
[ENSMUST00000127605]
[ENSMUST00000130469]
[ENSMUST00000137431]
[ENSMUST00000167055]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025749
|
| SMART Domains |
Protein: ENSMUSP00000025749
Gene: ENSMUSG00000024830
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
S_TKc
|
67 |
328 |
2.56e-103 |
SMART |
|
S_TK_X
|
329 |
391 |
2.6e-26 |
SMART |
|
low complexity region
|
406 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
485 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118483
|
| SMART Domains |
Protein: ENSMUSP00000112512
Gene: ENSMUSG00000024830
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
S_TKc
|
67 |
328 |
2.56e-103 |
SMART |
|
S_TK_X
|
329 |
384 |
1.69e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125057
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127605
|
| SMART Domains |
Protein: ENSMUSP00000123376
Gene: ENSMUSG00000024830
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
S_TKc
|
67 |
304 |
1.6e-72 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130469
|
| SMART Domains |
Protein: ENSMUSP00000117446
Gene: ENSMUSG00000024830
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
67 |
153 |
2.7e-14 |
PFAM |
|
Pfam:Pkinase_Tyr
|
67 |
153 |
9.8e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135911
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137431
|
| SMART Domains |
Protein: ENSMUSP00000116744
Gene: ENSMUSG00000024830
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
67 |
277 |
4.6e-31 |
PFAM |
|
Pfam:Pkinase
|
67 |
278 |
2.2e-62 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167055
AA Change: N584Y
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131624
Gene: ENSMUSG00000075289
AA Change: N584Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
206 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
433 |
N/A |
INTRINSIC |
|
low complexity region
|
490 |
496 |
N/A |
INTRINSIC |
|
Pfam:ATP-grasp_4
|
620 |
819 |
4.1e-46 |
PFAM |
|
low complexity region
|
862 |
875 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181211
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
G |
T |
4: 123,754,655 (GRCm39) |
D190Y |
probably damaging |
Het |
| Acat1 |
G |
A |
9: 53,496,166 (GRCm39) |
L324F |
probably benign |
Het |
| Ago2 |
T |
C |
15: 72,980,267 (GRCm39) |
H743R |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,985,632 (GRCm39) |
L2305F |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,789,779 (GRCm39) |
H2438Q |
probably damaging |
Het |
| Atm |
G |
T |
9: 53,438,485 (GRCm39) |
Q162K |
probably benign |
Het |
| Bpifa6 |
A |
T |
2: 153,831,196 (GRCm39) |
E254V |
probably damaging |
Het |
| Cmklr1 |
T |
C |
5: 113,752,461 (GRCm39) |
N180S |
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,788,306 (GRCm39) |
R1565* |
probably null |
Het |
| Fbxo43 |
T |
A |
15: 36,162,842 (GRCm39) |
I122L |
probably benign |
Het |
| Fibp |
A |
G |
19: 5,513,264 (GRCm39) |
Y193C |
probably damaging |
Het |
| Gm10923 |
A |
G |
15: 85,001,132 (GRCm39) |
|
probably benign |
Het |
| Il12rb2 |
A |
G |
6: 67,285,940 (GRCm39) |
|
probably null |
Het |
| Jakmip2 |
T |
C |
18: 43,700,223 (GRCm39) |
E445G |
possibly damaging |
Het |
| Krcc1 |
G |
A |
6: 71,261,405 (GRCm39) |
D146N |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Map2k5 |
A |
T |
9: 63,284,411 (GRCm39) |
D43E |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,172,486 (GRCm39) |
K824R |
probably benign |
Het |
| Or2o1 |
T |
C |
11: 49,050,921 (GRCm39) |
S27P |
probably benign |
Het |
| Or51g2 |
T |
C |
7: 102,622,951 (GRCm39) |
T83A |
possibly damaging |
Het |
| Phkg1 |
G |
A |
5: 129,893,479 (GRCm39) |
R324W |
probably damaging |
Het |
| Plcd1 |
G |
A |
9: 118,901,677 (GRCm39) |
L616F |
probably benign |
Het |
| Rnf141 |
A |
T |
7: 110,424,494 (GRCm39) |
S122T |
probably benign |
Het |
| Tap1 |
G |
A |
17: 34,412,963 (GRCm39) |
V593M |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,325,076 (GRCm39) |
L534P |
probably damaging |
Het |
| Ubr4 |
G |
T |
4: 139,186,414 (GRCm39) |
E640D |
possibly damaging |
Het |
| Vmn1r169 |
A |
C |
7: 23,276,661 (GRCm39) |
I18L |
probably benign |
Het |
|
| Other mutations in Carns1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01457:Carns1
|
APN |
19 |
4,216,498 (GRCm39) |
splice site |
probably null |
|
|
IGL02658:Carns1
|
APN |
19 |
4,223,083 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02800:Carns1
|
APN |
19 |
4,216,569 (GRCm39) |
splice site |
probably benign |
|
|
R1750:Carns1
|
UTSW |
19 |
4,223,156 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1902:Carns1
|
UTSW |
19 |
4,216,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1935:Carns1
|
UTSW |
19 |
4,215,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2434:Carns1
|
UTSW |
19 |
4,215,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Carns1
|
UTSW |
19 |
4,215,782 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3772:Carns1
|
UTSW |
19 |
4,220,915 (GRCm39) |
splice site |
probably benign |
|
|
R4091:Carns1
|
UTSW |
19 |
4,221,682 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4518:Carns1
|
UTSW |
19 |
4,220,069 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4668:Carns1
|
UTSW |
19 |
4,215,475 (GRCm39) |
nonsense |
probably null |
|
|
R4737:Carns1
|
UTSW |
19 |
4,220,927 (GRCm39) |
intron |
probably benign |
|
|
R4751:Carns1
|
UTSW |
19 |
4,216,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Carns1
|
UTSW |
19 |
4,221,900 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6077:Carns1
|
UTSW |
19 |
4,220,875 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6373:Carns1
|
UTSW |
19 |
4,216,515 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6411:Carns1
|
UTSW |
19 |
4,216,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6470:Carns1
|
UTSW |
19 |
4,221,782 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6486:Carns1
|
UTSW |
19 |
4,219,979 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6915:Carns1
|
UTSW |
19 |
4,219,912 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6981:Carns1
|
UTSW |
19 |
4,220,081 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7936:Carns1
|
UTSW |
19 |
4,216,152 (GRCm39) |
missense |
probably benign |
|
|
R8025:Carns1
|
UTSW |
19 |
4,216,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9279:Carns1
|
UTSW |
19 |
4,216,256 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9711:Carns1
|
UTSW |
19 |
4,216,007 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9725:Carns1
|
UTSW |
19 |
4,216,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation