Incidental Mutation 'R4029:Nme4'
| ID |
313140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nme4
|
| Ensembl Gene |
ENSMUSG00000024177 |
| Gene Name |
NME/NM23 nucleoside diphosphate kinase 4 |
| Synonyms |
5730493H09Rik, 2610027N22Rik, 2810024O08Rik, non-metastatic cells 4, protein expressed in, NM23-M4 |
| MMRRC Submission |
040959-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26310708-26314576 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4650 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 26313196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025007]
[ENSMUST00000040907]
[ENSMUST00000053575]
|
| AlphaFold |
Q9WV84 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025007
AA Change: D46G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025007
Gene: ENSMUSG00000024177
AA Change: D46G
| Domain | Start | End | E-Value | Type |
|---|
|
NDK
|
36 |
173 |
4.09e-83 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040907
|
| SMART Domains |
Protein: ENSMUSP00000045621
Gene: ENSMUSG00000036775
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:NDK
|
1 |
28 |
5e-9 |
BLAST |
|
Pfam:adh_short
|
29 |
224 |
3.6e-44 |
PFAM |
|
Pfam:KR
|
30 |
208 |
3.8e-11 |
PFAM |
|
Pfam:adh_short_C2
|
35 |
271 |
6.4e-30 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000053575
|
| SMART Domains |
Protein: ENSMUSP00000137416
Gene: ENSMUSG00000049124
| Domain | Start | End | E-Value | Type |
|---|
|
Sm
|
7 |
72 |
3.7e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150280
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150534
|
| Meta Mutation Damage Score |
0.9367 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (31/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4 (Milon et al., 1997 [PubMed 9099850]).[supplied by OMIM, May 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,293,008 (GRCm39) |
K46R |
probably benign |
Het |
| Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,531,245 (GRCm39) |
I174N |
probably damaging |
Het |
| Bfsp1 |
G |
A |
2: 143,673,749 (GRCm39) |
|
probably benign |
Het |
| Cenpq |
T |
C |
17: 41,238,140 (GRCm39) |
T125A |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,084,053 (GRCm39) |
Y892C |
probably damaging |
Het |
| Dmrt2 |
T |
G |
19: 25,655,498 (GRCm39) |
S366A |
probably damaging |
Het |
| Exoc7 |
C |
T |
11: 116,197,814 (GRCm39) |
|
probably benign |
Het |
| Gabra4 |
G |
T |
5: 71,729,532 (GRCm39) |
T390K |
probably benign |
Het |
| Gpr68 |
A |
G |
12: 100,845,475 (GRCm39) |
L23P |
probably damaging |
Het |
| Krt17 |
T |
A |
11: 100,148,349 (GRCm39) |
N364I |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
| Ly6g6d |
T |
A |
17: 35,290,636 (GRCm39) |
Q98L |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Nck2 |
T |
C |
1: 43,593,251 (GRCm39) |
F153L |
probably benign |
Het |
| Niban1 |
G |
A |
1: 151,571,441 (GRCm39) |
V239I |
probably benign |
Het |
| Nup35 |
A |
G |
2: 80,483,318 (GRCm39) |
D172G |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,320,279 (GRCm39) |
S1425T |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
| Pld2 |
A |
G |
11: 70,445,731 (GRCm39) |
N655S |
probably damaging |
Het |
| Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
| Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
| Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
| Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
| Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
| Ston2 |
T |
C |
12: 91,615,037 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Syt10 |
T |
C |
15: 89,698,741 (GRCm39) |
E201G |
probably benign |
Het |
| Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
| Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
|
| Other mutations in Nme4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01455:Nme4
|
APN |
17 |
26,311,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01725:Nme4
|
APN |
17 |
26,311,040 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02217:Nme4
|
APN |
17 |
26,312,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0153:Nme4
|
UTSW |
17 |
26,312,831 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1839:Nme4
|
UTSW |
17 |
26,311,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2205:Nme4
|
UTSW |
17 |
26,311,114 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4027:Nme4
|
UTSW |
17 |
26,313,196 (GRCm39) |
splice site |
probably null |
|
|
R5023:Nme4
|
UTSW |
17 |
26,312,642 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5044:Nme4
|
UTSW |
17 |
26,312,807 (GRCm39) |
unclassified |
probably benign |
|
|
R5635:Nme4
|
UTSW |
17 |
26,313,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7873:Nme4
|
UTSW |
17 |
26,312,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9133:Nme4
|
UTSW |
17 |
26,314,389 (GRCm39) |
missense |
probably benign |
|
|
R9134:Nme4
|
UTSW |
17 |
26,314,389 (GRCm39) |
missense |
probably benign |
|
|
R9168:Nme4
|
UTSW |
17 |
26,314,389 (GRCm39) |
missense |
probably benign |
|
|
R9170:Nme4
|
UTSW |
17 |
26,314,389 (GRCm39) |
missense |
probably benign |
|
|
R9776:Nme4
|
UTSW |
17 |
26,314,410 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACACAACTCCAGAAGCTAG -3'
(R):5'- TCCACCTTGAGCAGCTTCTG -3'
Sequencing Primer
(F):5'- GCTAGCTCCTACAATGGATACCTC -3'
(R):5'- CCCTGAAAATGTGGAGCA -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation