Incidental Mutation 'R2434:Carns1'
| ID |
250542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carns1
|
| Ensembl Gene |
ENSMUSG00000075289 |
| Gene Name |
carnosine synthase 1 |
| Synonyms |
Atpgd1 |
| MMRRC Submission |
040395-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R2434 (G1)
|
| Quality Score |
149 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4214323-4225478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 4215448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tryptophan
at position 911
(C911W)
|
| 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 |
probably damaging
Transcript: ENSMUST00000167055
AA Change: C911W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131624
Gene: ENSMUSG00000075289
AA Change: C911W
| 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: ENSMUST00000154307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151727
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
A |
G |
5: 31,051,357 (GRCm39) |
Q493R |
probably damaging |
Het |
| Ank3 |
T |
C |
10: 69,837,948 (GRCm39) |
V785A |
probably damaging |
Het |
| Capsl |
A |
T |
15: 9,462,795 (GRCm39) |
H145L |
probably damaging |
Het |
| Celsr2 |
A |
C |
3: 108,311,795 (GRCm39) |
F1351V |
probably damaging |
Het |
| Cpne8 |
T |
C |
15: 90,393,714 (GRCm39) |
I432V |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,236,004 (GRCm39) |
I386N |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,644,074 (GRCm39) |
D65E |
probably damaging |
Het |
| Eif3a |
T |
C |
19: 60,752,488 (GRCm39) |
|
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,164,005 (GRCm39) |
Y375H |
probably damaging |
Het |
| Fip1l1 |
C |
A |
5: 74,707,485 (GRCm39) |
T196K |
possibly damaging |
Het |
| Fmo6 |
A |
T |
1: 162,744,439 (GRCm39) |
N484K |
probably benign |
Het |
| Foxred1 |
G |
T |
9: 35,116,954 (GRCm39) |
D345E |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,238,100 (GRCm39) |
N295K |
probably damaging |
Het |
| Gipc2 |
T |
A |
3: 151,843,317 (GRCm39) |
I107L |
probably benign |
Het |
| Kcnn1 |
GTCCTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTCCTC |
8: 71,307,810 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
T |
A |
10: 115,423,311 (GRCm39) |
I30L |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,554,881 (GRCm39) |
V2589E |
possibly damaging |
Het |
| Ncam2 |
A |
T |
16: 81,392,113 (GRCm39) |
N699I |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,047,552 (GRCm39) |
|
probably null |
Het |
| Or11l3 |
A |
G |
11: 58,515,937 (GRCm39) |
Y312H |
possibly damaging |
Het |
| Rnasel |
T |
C |
1: 153,630,396 (GRCm39) |
V304A |
probably damaging |
Het |
| Serinc4 |
C |
T |
2: 121,286,186 (GRCm39) |
R134H |
probably benign |
Het |
| Sim1 |
T |
A |
10: 50,784,054 (GRCm39) |
Y103N |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,258,548 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
T |
A |
6: 91,712,193 (GRCm39) |
S241T |
probably benign |
Het |
| Son |
G |
T |
16: 91,451,575 (GRCm39) |
K107N |
probably damaging |
Het |
| St3gal6 |
T |
C |
16: 58,291,015 (GRCm39) |
T329A |
probably damaging |
Het |
| Stab2 |
G |
A |
10: 86,805,183 (GRCm39) |
P265L |
possibly damaging |
Het |
| Tmem199 |
G |
A |
11: 78,400,570 (GRCm39) |
T119I |
probably damaging |
Het |
| Ttc14 |
A |
G |
3: 33,855,227 (GRCm39) |
D125G |
probably benign |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,524 (GRCm39) |
M193L |
probably benign |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,696,881 (GRCm39) |
Y646C |
probably damaging |
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 |
|
|
IGL02246:Carns1
|
APN |
19 |
4,216,431 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTGGTAGCATGCTGACCC -3'
(R):5'- TGGCTACCTAGTGGGCATCATG -3'
Sequencing Primer
(F):5'- AGCATGCTGACCCTGGGTTG -3'
(R):5'- ATCATGTGCCTGGTGTCCC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation