Incidental Mutation 'R6373:Carns1'
| ID |
513649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carns1
|
| Ensembl Gene |
ENSMUSG00000075289 |
| Gene Name |
carnosine synthase 1 |
| Synonyms |
Atpgd1 |
| MMRRC Submission |
044523-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R6373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4214323-4225478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 4216515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 556
(Q556K)
|
| 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 benign
Transcript: ENSMUST00000167055
AA Change: Q556K
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000131624
Gene: ENSMUSG00000075289
AA Change: Q556K
| 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: ENSMUST00000155303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154307
|
| Meta Mutation Damage Score |
0.0996 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
95% (37/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
C |
8: 10,038,240 (GRCm39) |
L279P |
probably damaging |
Het |
| Aldh16a1 |
C |
G |
7: 44,795,695 (GRCm39) |
V373L |
probably benign |
Het |
| Btn2a2 |
T |
C |
13: 23,665,999 (GRCm39) |
K278E |
probably benign |
Het |
| Chd1 |
A |
T |
17: 15,958,898 (GRCm39) |
E650V |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,203,118 (GRCm39) |
S1195P |
probably damaging |
Het |
| Deup1 |
T |
C |
9: 15,472,638 (GRCm39) |
H464R |
probably damaging |
Het |
| Eva1a |
T |
C |
6: 82,068,847 (GRCm39) |
L58S |
probably damaging |
Het |
| Fign |
A |
C |
2: 63,809,989 (GRCm39) |
M427R |
probably benign |
Het |
| Gm6309 |
A |
T |
5: 146,107,085 (GRCm39) |
I87N |
probably damaging |
Het |
| H2ac7 |
A |
G |
13: 23,759,027 (GRCm39) |
K128R |
probably benign |
Het |
| Helz |
A |
G |
11: 107,486,010 (GRCm39) |
T140A |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,541,618 (GRCm39) |
H1227Q |
possibly damaging |
Het |
| Mab21l1 |
A |
T |
3: 55,690,505 (GRCm39) |
I31F |
possibly damaging |
Het |
| Mex3c |
T |
C |
18: 73,723,065 (GRCm39) |
M386T |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,022,994 (GRCm39) |
I1644F |
possibly damaging |
Het |
| Nav2 |
C |
T |
7: 49,102,923 (GRCm39) |
P513S |
probably damaging |
Het |
| Ncoa3 |
C |
T |
2: 165,901,267 (GRCm39) |
S953F |
possibly damaging |
Het |
| Nmt2 |
A |
G |
2: 3,325,988 (GRCm39) |
T462A |
probably benign |
Het |
| Nrxn2 |
T |
C |
19: 6,559,860 (GRCm39) |
I163T |
probably damaging |
Het |
| Nrxn3 |
G |
C |
12: 89,943,237 (GRCm39) |
G122R |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,479,724 (GRCm39) |
V280A |
probably benign |
Het |
| Or5d20-ps1 |
T |
C |
2: 87,932,189 (GRCm39) |
I47M |
possibly damaging |
Het |
| Parg |
T |
G |
14: 31,931,454 (GRCm39) |
|
probably null |
Het |
| Pcdhb7 |
T |
A |
18: 37,475,264 (GRCm39) |
C133* |
probably null |
Het |
| Ppihl |
A |
G |
5: 44,070,893 (GRCm39) |
T127A |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,216,487 (GRCm39) |
Y504H |
possibly damaging |
Het |
| Rpe |
T |
C |
1: 66,755,139 (GRCm39) |
F174L |
probably benign |
Het |
| Rxrb |
A |
G |
17: 34,252,533 (GRCm39) |
N40S |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,486,889 (GRCm39) |
G3840W |
probably damaging |
Het |
| Smurf2 |
A |
G |
11: 106,724,595 (GRCm39) |
L529P |
probably damaging |
Het |
| Sntg2 |
C |
T |
12: 30,308,040 (GRCm39) |
R215H |
probably benign |
Het |
| Spata20 |
A |
G |
11: 94,374,226 (GRCm39) |
V348A |
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,123,739 (GRCm39) |
E342G |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Syce1l |
T |
A |
8: 114,376,143 (GRCm39) |
M31K |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,618,960 (GRCm39) |
V14394I |
probably damaging |
Het |
| Twnk |
G |
A |
19: 44,997,820 (GRCm39) |
V450M |
probably damaging |
Het |
| Vangl1 |
T |
C |
3: 102,065,764 (GRCm39) |
K407R |
probably benign |
Het |
| Vmn1r19 |
T |
C |
6: 57,382,317 (GRCm39) |
I290T |
unknown |
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 |
|
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 |
|
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'- CACCGCAACAGATGTAGCTG -3'
(R):5'- GGCTGAAGTAGGTGTCTCAC -3'
Sequencing Primer
(F):5'- ACAGATGTAGCTGTGTGCG -3'
(R):5'- GAAACCCATCCTGTATCG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation