Incidental Mutation 'R9279:Carns1'
| ID |
703528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carns1
|
| Ensembl Gene |
ENSMUSG00000075289 |
| Gene Name |
carnosine synthase 1 |
| Synonyms |
Atpgd1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R9279 (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 4216256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 642
(T642N)
|
| 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 |
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 |
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: T642N
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000131624
Gene: ENSMUSG00000075289
AA Change: T642N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr7a5 |
A |
T |
4: 139,044,079 (GRCm39) |
H225L |
possibly damaging |
Het |
| Arhgap32 |
C |
A |
9: 32,168,655 (GRCm39) |
H879Q |
probably benign |
Het |
| Axin2 |
A |
G |
11: 108,833,128 (GRCm39) |
I438V |
possibly damaging |
Het |
| Btbd18 |
T |
A |
2: 84,491,920 (GRCm39) |
C34S |
probably damaging |
Het |
| Casp8 |
T |
C |
1: 58,883,542 (GRCm39) |
I283T |
probably benign |
Het |
| Ccdc136 |
T |
A |
6: 29,421,982 (GRCm39) |
|
probably benign |
Het |
| Ccnk |
C |
A |
12: 108,161,946 (GRCm39) |
Q284K |
unknown |
Het |
| Ceacam12 |
T |
A |
7: 17,801,177 (GRCm39) |
L52H |
probably damaging |
Het |
| Cit |
G |
A |
5: 116,065,970 (GRCm39) |
D540N |
probably damaging |
Het |
| Cntnap1 |
T |
C |
11: 101,072,121 (GRCm39) |
V458A |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,758,976 (GRCm39) |
I2077F |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,409,104 (GRCm39) |
K425E |
probably benign |
Het |
| Eya2 |
A |
G |
2: 165,529,631 (GRCm39) |
S125G |
probably benign |
Het |
| Gabrg1 |
T |
G |
5: 70,934,599 (GRCm39) |
M260L |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,732,153 (GRCm39) |
S1603G |
probably damaging |
Het |
| Isx |
A |
G |
8: 75,600,434 (GRCm39) |
T56A |
probably benign |
Het |
| Kif2b |
A |
T |
11: 91,467,975 (GRCm39) |
S103T |
probably benign |
Het |
| Krtap26-1 |
T |
C |
16: 88,444,342 (GRCm39) |
H93R |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mdm4 |
G |
A |
1: 132,924,416 (GRCm39) |
T236M |
probably damaging |
Het |
| Mgat5 |
T |
A |
1: 127,325,348 (GRCm39) |
L405Q |
probably damaging |
Het |
| Msantd1 |
A |
G |
5: 35,080,885 (GRCm39) |
I272V |
probably benign |
Het |
| Ocstamp |
A |
G |
2: 165,237,768 (GRCm39) |
*499Q |
probably null |
Het |
| Or11h6 |
A |
G |
14: 50,880,493 (GRCm39) |
K252E |
possibly damaging |
Het |
| Or1e16 |
G |
A |
11: 73,279,789 (GRCm39) |
P21L |
probably benign |
Het |
| Or2n1d |
G |
A |
17: 38,646,414 (GRCm39) |
R122Q |
probably damaging |
Het |
| Or4c100 |
A |
G |
2: 88,356,211 (GRCm39) |
M95V |
probably benign |
Het |
| Or5b12 |
A |
T |
19: 12,897,309 (GRCm39) |
Y121* |
probably null |
Het |
| Pcdh15 |
T |
A |
10: 74,461,756 (GRCm39) |
|
probably benign |
Het |
| Pkdrej |
C |
T |
15: 85,700,834 (GRCm39) |
G1701S |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,113,757 (GRCm39) |
T754A |
probably damaging |
Het |
| Prss8 |
C |
A |
7: 127,527,082 (GRCm39) |
Q55H |
probably damaging |
Het |
| Psg20 |
G |
T |
7: 18,416,670 (GRCm39) |
R149S |
probably benign |
Het |
| Ptprz1 |
T |
G |
6: 23,002,444 (GRCm39) |
N1511K |
probably benign |
Het |
| Rbbp8nl |
C |
T |
2: 179,920,894 (GRCm39) |
|
probably null |
Het |
| Sgk2 |
A |
G |
2: 162,854,975 (GRCm39) |
D362G |
probably benign |
Het |
| Sim1 |
T |
C |
10: 50,859,796 (GRCm39) |
Y553H |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,208,896 (GRCm39) |
D504G |
probably damaging |
Het |
| Smad7 |
T |
C |
18: 75,502,547 (GRCm39) |
V174A |
possibly damaging |
Het |
| Smarcc1 |
T |
A |
9: 109,996,792 (GRCm39) |
N303K |
possibly damaging |
Het |
| Snai3 |
T |
C |
8: 123,183,038 (GRCm39) |
H169R |
possibly damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,895,505 (GRCm39) |
S331T |
possibly damaging |
Het |
| Tenm2 |
G |
A |
11: 35,959,303 (GRCm39) |
T1082I |
probably benign |
Het |
| Tle4 |
A |
T |
19: 14,429,890 (GRCm39) |
I627N |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,898,088 (GRCm39) |
N912I |
possibly damaging |
Het |
| Ube2q2l |
A |
G |
6: 136,377,978 (GRCm39) |
V284A |
probably damaging |
Het |
| Vmn1r238 |
A |
T |
18: 3,122,994 (GRCm39) |
V140E |
probably damaging |
Het |
| Vmn1r65 |
G |
A |
7: 6,011,988 (GRCm39) |
T82I |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,572,290 (GRCm39) |
K969R |
probably damaging |
Het |
| Zfp943 |
A |
G |
17: 22,209,832 (GRCm39) |
R35G |
possibly 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 |
|
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 |
|
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'- ATCAGCAGCATAGCATTGCC -3'
(R):5'- AGCTAGATGGCTGCTTCTCC -3'
Sequencing Primer
(F):5'- TGCAGGTCATGGAGGATCC -3'
(R):5'- CTCCTTCTGGGATGACTGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation