Incidental Mutation 'R6047:Nt5c3'
| ID |
483339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nt5c3
|
| Ensembl Gene |
ENSMUSG00000029780 |
| Gene Name |
5'-nucleotidase, cytosolic III |
| Synonyms |
lupin, cN-III, Umph-1, p36, 1600024P05Rik, PN-1, 2610206B05Rik, Umph1, PN-I, PSN1 |
| MMRRC Submission |
044215-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R6047 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
56859385-56900917 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 56859964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 291
(S291L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031793]
[ENSMUST00000031795]
[ENSMUST00000101367]
[ENSMUST00000135558]
[ENSMUST00000152447]
|
| AlphaFold |
Q9D020 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031793
AA Change: S325L
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031793
Gene: ENSMUSG00000029780
AA Change: S325L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:UMPH-1
|
86 |
331 |
5.6e-119 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031795
|
| SMART Domains |
Protein: ENSMUSP00000031795
Gene: ENSMUSG00000029781
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:FKBP_C
|
47 |
139 |
8.2e-31 |
PFAM |
|
Pfam:FKBP_C
|
159 |
251 |
5.8e-28 |
PFAM |
|
Pfam:FKBP_C
|
271 |
362 |
1.3e-27 |
PFAM |
|
Pfam:FKBP_C
|
382 |
474 |
2.8e-27 |
PFAM |
|
EFh
|
492 |
520 |
2.35e0 |
SMART |
|
EFh
|
537 |
565 |
1.98e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101367
AA Change: S291L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098918
Gene: ENSMUSG00000029780
AA Change: S291L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UMPH-1
|
52 |
297 |
2.1e-118 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126137
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135558
|
| SMART Domains |
Protein: ENSMUSP00000145230
Gene: ENSMUSG00000029780
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152447
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205087
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,856,066 (GRCm39) |
I58T |
probably damaging |
Het |
| Adgrb2 |
G |
T |
4: 129,912,498 (GRCm39) |
G1208C |
probably damaging |
Het |
| Antxrl |
T |
C |
14: 33,775,433 (GRCm39) |
|
probably benign |
Het |
| Appl2 |
C |
T |
10: 83,448,765 (GRCm39) |
|
probably null |
Het |
| Bloc1s2 |
T |
C |
19: 44,130,629 (GRCm39) |
I112V |
possibly damaging |
Het |
| Cblb |
G |
T |
16: 51,932,611 (GRCm39) |
|
probably null |
Het |
| Cdk9 |
T |
C |
2: 32,598,285 (GRCm39) |
|
probably null |
Het |
| Dok7 |
G |
A |
5: 35,236,651 (GRCm39) |
G206D |
probably damaging |
Het |
| Ftsj3 |
C |
T |
11: 106,143,144 (GRCm39) |
R390H |
probably damaging |
Het |
| Gpr179 |
G |
T |
11: 97,229,242 (GRCm39) |
P971Q |
probably damaging |
Het |
| Hic1 |
A |
T |
11: 75,057,675 (GRCm39) |
S405T |
possibly damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,482,061 (GRCm39) |
L217P |
probably damaging |
Het |
| Insrr |
A |
G |
3: 87,711,483 (GRCm39) |
K468E |
probably damaging |
Het |
| Lce1j |
G |
C |
3: 92,696,503 (GRCm39) |
R92G |
unknown |
Het |
| Lrp12 |
T |
C |
15: 39,735,463 (GRCm39) |
E823G |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,527,787 (GRCm39) |
I98T |
probably benign |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,212 (GRCm39) |
H179L |
possibly damaging |
Het |
| Med24 |
A |
T |
11: 98,598,591 (GRCm39) |
C691* |
probably null |
Het |
| Mical1 |
T |
C |
10: 41,357,703 (GRCm39) |
|
probably null |
Het |
| Msantd2 |
A |
T |
9: 37,434,738 (GRCm39) |
Y326F |
probably damaging |
Het |
| Nfyc |
T |
A |
4: 120,636,314 (GRCm39) |
|
probably null |
Het |
| Nrg3 |
T |
A |
14: 38,119,309 (GRCm39) |
|
probably null |
Het |
| Pak4 |
A |
G |
7: 28,262,461 (GRCm39) |
Y384H |
probably benign |
Het |
| Pdia5 |
T |
C |
16: 35,217,848 (GRCm39) |
K512E |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,406,597 (GRCm39) |
F283L |
probably damaging |
Het |
| Pick1 |
A |
G |
15: 79,139,895 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,814,059 (GRCm39) |
V4143A |
probably damaging |
Het |
| Ptprc |
C |
T |
1: 138,028,779 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,451,897 (GRCm39) |
F1342S |
probably benign |
Het |
| Slc17a7 |
A |
T |
7: 44,822,830 (GRCm39) |
I436F |
probably benign |
Het |
| Slc34a1 |
G |
T |
13: 55,559,884 (GRCm39) |
A403S |
probably damaging |
Het |
| Stmn3 |
A |
T |
2: 180,950,952 (GRCm39) |
Y35N |
possibly damaging |
Het |
| Tldc2 |
A |
G |
2: 156,938,382 (GRCm39) |
E207G |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,027,717 (GRCm39) |
N436S |
probably damaging |
Het |
| Uty |
G |
T |
Y: 1,158,288 (GRCm39) |
P538Q |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,756,921 (GRCm39) |
D1142G |
probably damaging |
Het |
|
| Other mutations in Nt5c3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02142:Nt5c3
|
APN |
6 |
56,863,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02819:Nt5c3
|
APN |
6 |
56,860,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Nt5c3
|
UTSW |
6 |
56,860,797 (GRCm39) |
missense |
probably benign |
|
|
R0523:Nt5c3
|
UTSW |
6 |
56,860,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0791:Nt5c3
|
UTSW |
6 |
56,863,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0792:Nt5c3
|
UTSW |
6 |
56,863,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1340:Nt5c3
|
UTSW |
6 |
56,860,018 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3703:Nt5c3
|
UTSW |
6 |
56,860,652 (GRCm39) |
unclassified |
probably benign |
|
|
R5942:Nt5c3
|
UTSW |
6 |
56,874,839 (GRCm39) |
splice site |
probably null |
|
|
R6894:Nt5c3
|
UTSW |
6 |
56,859,958 (GRCm39) |
nonsense |
probably null |
|
|
R7923:Nt5c3
|
UTSW |
6 |
56,860,027 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8708:Nt5c3
|
UTSW |
6 |
56,874,758 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8753:Nt5c3
|
UTSW |
6 |
56,860,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Nt5c3
|
UTSW |
6 |
56,861,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Nt5c3
|
UTSW |
6 |
56,859,955 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9206:Nt5c3
|
UTSW |
6 |
56,874,793 (GRCm39) |
start codon destroyed |
probably null |
0.72 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCACACGTCTGAAGATCG -3'
(R):5'- CTGTCCATGATAAGTCTGAGAGTG -3'
Sequencing Primer
(F):5'- CACACGTCTGAAGATCGTCTGTTG -3'
(R):5'- CCAGCGATCATGATGCTGAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation