Incidental Mutation 'R1277:Nudt12'
| ID |
150935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nudt12
|
| Ensembl Gene |
ENSMUSG00000024228 |
| Gene Name |
nudix hydrolase 12 |
| Synonyms |
nudix (nucleoside diphosphate linked moiety X)-type motif 12, 0610016O18Rik |
| MMRRC Submission |
039343-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1277 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
59307104-59320317 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 59317131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 172
(P172L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133678
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025065]
[ENSMUST00000174122]
|
| AlphaFold |
Q9DCN1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025065
AA Change: P172L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025065
Gene: ENSMUSG00000024228
AA Change: P172L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
11 |
40 |
2.43e3 |
SMART |
|
ANK
|
45 |
74 |
1.1e-6 |
SMART |
|
ANK
|
78 |
108 |
2.55e2 |
SMART |
|
Pfam:NUDIX-like
|
147 |
277 |
3.2e-10 |
PFAM |
|
Pfam:zf-NADH-PPase
|
279 |
309 |
2.7e-10 |
PFAM |
|
Pfam:NUDIX
|
322 |
447 |
8.1e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152750
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174122
AA Change: P172L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133678
Gene: ENSMUSG00000024228
AA Change: P172L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
11 |
40 |
2.43e3 |
SMART |
|
ANK
|
45 |
74 |
1.1e-6 |
SMART |
|
ANK
|
78 |
108 |
2.55e2 |
SMART |
|
Pfam:NUDIX-like
|
147 |
277 |
2.4e-9 |
PFAM |
|
Pfam:zf-NADH-PPase
|
279 |
311 |
5.9e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.1084 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Appl1 |
A |
C |
14: 26,649,813 (GRCm39) |
V571G |
possibly damaging |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Chd6 |
A |
T |
2: 160,809,735 (GRCm39) |
C1509S |
probably damaging |
Het |
| Clk4 |
A |
G |
11: 51,158,016 (GRCm39) |
T7A |
probably benign |
Het |
| Crlf2 |
C |
T |
5: 109,705,466 (GRCm39) |
V30I |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,316,582 (GRCm39) |
H93R |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,615,957 (GRCm39) |
V3593A |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,769 (GRCm39) |
Y33F |
possibly damaging |
Het |
| Pkd2 |
A |
G |
5: 104,650,225 (GRCm39) |
I862V |
probably damaging |
Het |
| Prl3c1 |
T |
C |
13: 27,387,555 (GRCm39) |
L180P |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,064,437 (GRCm39) |
V228A |
possibly damaging |
Het |
| Rfx7 |
A |
G |
9: 72,500,594 (GRCm39) |
E118G |
probably benign |
Het |
| Slc17a8 |
T |
C |
10: 89,433,319 (GRCm39) |
T51A |
possibly damaging |
Het |
| Zfp414 |
G |
T |
17: 33,849,449 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Nudt12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02860:Nudt12
|
APN |
17 |
59,317,430 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02904:Nudt12
|
APN |
17 |
59,317,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03206:Nudt12
|
APN |
17 |
59,314,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0121:Nudt12
|
UTSW |
17 |
59,314,634 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0673:Nudt12
|
UTSW |
17 |
59,314,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0761:Nudt12
|
UTSW |
17 |
59,318,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1079:Nudt12
|
UTSW |
17 |
59,318,032 (GRCm39) |
splice site |
probably benign |
|
|
R1815:Nudt12
|
UTSW |
17 |
59,317,131 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1816:Nudt12
|
UTSW |
17 |
59,317,131 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1834:Nudt12
|
UTSW |
17 |
59,318,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2296:Nudt12
|
UTSW |
17 |
59,317,044 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2415:Nudt12
|
UTSW |
17 |
59,313,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5011:Nudt12
|
UTSW |
17 |
59,303,499 (GRCm39) |
unclassified |
probably benign |
|
|
R5384:Nudt12
|
UTSW |
17 |
59,310,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Nudt12
|
UTSW |
17 |
59,310,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5874:Nudt12
|
UTSW |
17 |
59,317,279 (GRCm39) |
nonsense |
probably null |
|
|
R6108:Nudt12
|
UTSW |
17 |
59,314,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6477:Nudt12
|
UTSW |
17 |
59,318,140 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7030:Nudt12
|
UTSW |
17 |
59,310,348 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7592:Nudt12
|
UTSW |
17 |
59,313,589 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8252:Nudt12
|
UTSW |
17 |
59,318,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9661:Nudt12
|
UTSW |
17 |
59,316,981 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1177:Nudt12
|
UTSW |
17 |
59,318,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACCCTGGAATGAAACCCTGAG -3'
(R):5'- TAGCAGAACACTACTGGACCGGAG -3'
Sequencing Primer
(F):5'- cattcattcattcattcattcCTCAC -3'
(R):5'- CTACTGGACCGGAGGAGTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation