Incidental Mutation 'IGL01016:Nme5'
| ID |
54079 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nme5
|
| Ensembl Gene |
ENSMUSG00000035984 |
| Gene Name |
NME/NM23 family member 5 |
| Synonyms |
non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase), Nm23-M5, 1700019D05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01016
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
34695687-34712168 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1187 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 34711712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056932]
[ENSMUST00000079287]
[ENSMUST00000129566]
[ENSMUST00000134875]
[ENSMUST00000154342]
[ENSMUST00000155114]
|
| AlphaFold |
Q99MH5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056932
|
| SMART Domains |
Protein: ENSMUSP00000054234
Gene: ENSMUSG00000049357
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
86 |
N/A |
INTRINSIC |
|
BROMO
|
153 |
261 |
8.66e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079287
AA Change: I10V
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000078269
Gene: ENSMUSG00000035984
AA Change: I10V
| Domain | Start | End | E-Value | Type |
|---|
|
NDK
|
12 |
150 |
1.9e-62 |
SMART |
|
Pfam:Dpy-30
|
156 |
197 |
7.7e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129566
|
| SMART Domains |
Protein: ENSMUSP00000117272
Gene: ENSMUSG00000049357
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BROMO
|
20 |
197 |
5e-25 |
BLAST |
|
SCOP:d1f68a_
|
161 |
204 |
1e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134875
AA Change: I10V
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000118213
Gene: ENSMUSG00000035984
AA Change: I10V
| Domain | Start | End | E-Value | Type |
|---|
|
NDK
|
12 |
113 |
2.91e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154342
AA Change: I10V
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000117443
Gene: ENSMUSG00000035984
AA Change: I10V
| Domain | Start | End | E-Value | Type |
|---|
|
NDK
|
12 |
113 |
2.91e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155114
AA Change: I10V
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mice exhibit hydrocephaly and male spermatogenesis defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh20 |
G |
A |
1: 110,036,686 (GRCm39) |
|
probably null |
Het |
| Dennd1c |
T |
C |
17: 57,373,839 (GRCm39) |
I575V |
probably damaging |
Het |
| Focad |
G |
A |
4: 88,310,252 (GRCm39) |
V1394I |
possibly damaging |
Het |
| Gldc |
G |
A |
19: 30,110,893 (GRCm39) |
S570F |
possibly damaging |
Het |
| Gm12695 |
T |
A |
4: 96,646,184 (GRCm39) |
Y286F |
probably benign |
Het |
| Grid1 |
C |
T |
14: 34,544,596 (GRCm39) |
Q56* |
probably null |
Het |
| Il7r |
A |
T |
15: 9,510,294 (GRCm39) |
V253E |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,014,867 (GRCm39) |
L861P |
probably damaging |
Het |
| Kcnc3 |
C |
T |
7: 44,244,810 (GRCm39) |
R367W |
probably damaging |
Het |
| Lipt1 |
T |
C |
1: 37,914,264 (GRCm39) |
Y107H |
probably damaging |
Het |
| Mep1a |
T |
C |
17: 43,789,975 (GRCm39) |
E445G |
probably benign |
Het |
| Mpo |
A |
G |
11: 87,688,436 (GRCm39) |
|
probably null |
Het |
| Or52n2 |
A |
T |
7: 104,542,243 (GRCm39) |
N197K |
probably damaging |
Het |
| Or8b54 |
T |
A |
9: 38,686,737 (GRCm39) |
F62Y |
probably damaging |
Het |
| Or8s8 |
T |
A |
15: 98,354,186 (GRCm39) |
|
probably benign |
Het |
| Papolg |
A |
T |
11: 23,835,570 (GRCm39) |
N83K |
possibly damaging |
Het |
| Picalm |
A |
T |
7: 89,810,526 (GRCm39) |
D111V |
probably damaging |
Het |
| Ppargc1a |
T |
A |
5: 51,655,373 (GRCm39) |
|
probably null |
Het |
| Rnh1 |
G |
T |
7: 140,744,409 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
T |
C |
14: 52,383,293 (GRCm39) |
Y576H |
probably damaging |
Het |
| Sobp |
T |
A |
10: 42,898,874 (GRCm39) |
Y237F |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,140,711 (GRCm39) |
Y637H |
probably damaging |
Het |
| St18 |
G |
T |
1: 6,914,547 (GRCm39) |
G797V |
probably damaging |
Het |
| Tbx20 |
T |
C |
9: 24,661,617 (GRCm39) |
D293G |
probably damaging |
Het |
| Tcl1b1 |
A |
T |
12: 105,130,663 (GRCm39) |
R49* |
probably null |
Het |
| Tnfsf13b |
A |
G |
8: 10,081,612 (GRCm39) |
Q258R |
probably damaging |
Het |
| Vmn1r223 |
A |
T |
13: 23,434,237 (GRCm39) |
Y277F |
probably damaging |
Het |
| Wdr62 |
T |
C |
7: 29,953,676 (GRCm39) |
T146A |
probably benign |
Het |
| Zfp236 |
G |
A |
18: 82,686,815 (GRCm39) |
A241V |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,711,003 (GRCm39) |
S909P |
probably damaging |
Het |
|
| Other mutations in Nme5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00983:Nme5
|
APN |
18 |
34,700,181 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01982:Nme5
|
APN |
18 |
34,702,928 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02336:Nme5
|
APN |
18 |
34,711,730 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02897:Nme5
|
APN |
18 |
34,702,956 (GRCm39) |
intron |
probably benign |
|
|
aesthenic
|
UTSW |
18 |
34,711,738 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1209:Nme5
|
UTSW |
18 |
34,702,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1221:Nme5
|
UTSW |
18 |
34,704,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3855:Nme5
|
UTSW |
18 |
34,702,884 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4729:Nme5
|
UTSW |
18 |
34,702,890 (GRCm39) |
missense |
probably benign |
|
|
R5010:Nme5
|
UTSW |
18 |
34,711,738 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6658:Nme5
|
UTSW |
18 |
34,711,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6820:Nme5
|
UTSW |
18 |
34,704,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Nme5
|
UTSW |
18 |
34,700,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9321:Nme5
|
UTSW |
18 |
34,704,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-06-28 |
Incidental Mutation