Incidental Mutation 'IGL01455:Nme4'
| ID |
84760 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01455
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26310708-26314576 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26311036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 176
(D176E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025007]
[ENSMUST00000040907]
|
| AlphaFold |
Q9WV84 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025007
AA Change: D176E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025007
Gene: ENSMUSG00000024177
AA Change: D176E
| 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 |
noncoding transcript
Transcript: ENSMUST00000134696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150280
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150534
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,214,131 (GRCm39) |
D87G |
possibly damaging |
Het |
| Adgra3 |
G |
A |
5: 50,144,899 (GRCm39) |
R565* |
probably null |
Het |
| Akap12 |
C |
T |
10: 4,306,886 (GRCm39) |
T1232I |
probably damaging |
Het |
| Arb2a |
A |
T |
13: 78,050,766 (GRCm39) |
|
probably benign |
Het |
| B3gnt2 |
A |
T |
11: 22,787,042 (GRCm39) |
W49R |
probably damaging |
Het |
| Ccdc112 |
T |
A |
18: 46,426,511 (GRCm39) |
K137N |
possibly damaging |
Het |
| Ccdc117 |
G |
T |
11: 5,484,297 (GRCm39) |
T181K |
possibly damaging |
Het |
| Cfh |
T |
C |
1: 140,033,277 (GRCm39) |
K756E |
possibly damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cyp2c29 |
T |
A |
19: 39,317,561 (GRCm39) |
I349K |
possibly damaging |
Het |
| Dcaf15 |
T |
C |
8: 84,825,219 (GRCm39) |
T434A |
probably benign |
Het |
| Entpd5 |
T |
C |
12: 84,441,451 (GRCm39) |
I106V |
probably benign |
Het |
| Eps8l1 |
T |
A |
7: 4,481,922 (GRCm39) |
|
probably benign |
Het |
| Erbin |
G |
T |
13: 103,995,895 (GRCm39) |
P269Q |
probably damaging |
Het |
| Fbxw22 |
C |
T |
9: 109,214,062 (GRCm39) |
M251I |
probably benign |
Het |
| Fgd4 |
T |
A |
16: 16,308,354 (GRCm39) |
T9S |
probably benign |
Het |
| Haus8 |
T |
C |
8: 71,705,875 (GRCm39) |
I270V |
probably benign |
Het |
| Herc4 |
T |
A |
10: 63,121,922 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
G |
A |
4: 137,281,128 (GRCm39) |
V3367M |
probably damaging |
Het |
| Htr1f |
A |
T |
16: 64,746,385 (GRCm39) |
F302L |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,279,773 (GRCm39) |
C458R |
probably damaging |
Het |
| Klhl18 |
T |
C |
9: 110,261,511 (GRCm39) |
E411G |
probably damaging |
Het |
| Krt20 |
A |
T |
11: 99,322,769 (GRCm39) |
F289I |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,355,065 (GRCm39) |
|
probably null |
Het |
| Nav1 |
T |
C |
1: 135,397,373 (GRCm39) |
D932G |
probably benign |
Het |
| Nox4 |
C |
T |
7: 87,025,424 (GRCm39) |
S517L |
possibly damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,368 (GRCm39) |
L258H |
probably damaging |
Het |
| Pate8 |
T |
A |
9: 36,492,659 (GRCm39) |
H82L |
probably benign |
Het |
| Pip5k1a |
T |
C |
3: 94,975,471 (GRCm39) |
D333G |
probably benign |
Het |
| Polb |
T |
C |
8: 23,143,088 (GRCm39) |
Y36C |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,030,877 (GRCm39) |
I953T |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,659,686 (GRCm39) |
D1071E |
probably damaging |
Het |
| Stxbp3-ps |
T |
C |
19: 9,535,371 (GRCm39) |
|
noncoding transcript |
Het |
| Tmcc3 |
A |
T |
10: 94,422,617 (GRCm39) |
I356F |
probably damaging |
Het |
| Tmem262 |
G |
T |
19: 6,130,189 (GRCm39) |
R6L |
probably damaging |
Het |
| Tnks |
C |
A |
8: 35,408,054 (GRCm39) |
V225L |
probably damaging |
Het |
|
| Other mutations in Nme4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R4029: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 |
|
| Posted On |
2013-11-11 |
Incidental Mutation