Incidental Mutation 'R4380:Nme7'
| ID |
325276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nme7
|
| Ensembl Gene |
ENSMUSG00000026575 |
| Gene Name |
NME/NM23 family member 7 |
| Synonyms |
Nm23-M7, D530024H21Rik, nucleoside-diphosphate kinase, non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) |
| MMRRC Submission |
041678-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R4380 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
164135091-164264870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 164172807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 173
(T173A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086028]
[ENSMUST00000191947]
[ENSMUST00000193683]
[ENSMUST00000193808]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086028
AA Change: T173A
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000083192
Gene: ENSMUSG00000026575
AA Change: T173A
| Domain | Start | End | E-Value | Type |
|---|
|
DM10
|
22 |
110 |
1.9e-37 |
SMART |
|
NDK
|
110 |
248 |
1.75e-68 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191947
AA Change: T173A
PolyPhen 2
Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141431
Gene: ENSMUSG00000026575
AA Change: T173A
| Domain | Start | End | E-Value | Type |
|---|
|
DM10
|
22 |
110 |
1.9e-37 |
SMART |
|
NDK
|
110 |
248 |
1.75e-68 |
SMART |
|
NDK
|
256 |
394 |
1.11e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193683
AA Change: T173A
PolyPhen 2
Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141963
Gene: ENSMUSG00000026575
AA Change: T173A
| Domain | Start | End | E-Value | Type |
|---|
|
DM10
|
22 |
110 |
1.9e-37 |
SMART |
|
NDK
|
110 |
248 |
1.75e-68 |
SMART |
|
NDK
|
256 |
394 |
1.11e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193808
AA Change: T173A
PolyPhen 2
Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141771
Gene: ENSMUSG00000026575
AA Change: T173A
| Domain | Start | End | E-Value | Type |
|---|
|
DM10
|
22 |
110 |
1.9e-37 |
SMART |
|
NDK
|
110 |
248 |
1.75e-68 |
SMART |
|
NDK
|
256 |
394 |
1.11e-43 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194694
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195474
|
| Meta Mutation Damage Score |
0.1581 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (45/46) |
| 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 non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous mice exhibit hydrocephaly, domed skulls and 50% exhibit situs inversus. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(30) : Gene trapped(30) |
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310016G11Rik |
T |
C |
7: 44,326,580 (GRCm39) |
|
noncoding transcript |
Het |
| Casc3 |
C |
A |
11: 98,713,857 (GRCm39) |
P363Q |
possibly damaging |
Het |
| Cep162 |
C |
A |
9: 87,082,056 (GRCm39) |
R1283L |
probably damaging |
Het |
| Clk3 |
C |
A |
9: 57,659,075 (GRCm39) |
W562L |
probably damaging |
Het |
| Col17a1 |
G |
A |
19: 47,645,529 (GRCm39) |
T844M |
possibly damaging |
Het |
| Dntt |
G |
C |
19: 41,041,672 (GRCm39) |
G452A |
probably damaging |
Het |
| Dop1b |
G |
A |
16: 93,513,120 (GRCm39) |
V20I |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,202,316 (GRCm39) |
S215P |
probably damaging |
Het |
| Dync1li2 |
A |
T |
8: 105,154,798 (GRCm39) |
I270N |
probably damaging |
Het |
| Egflam |
A |
T |
15: 7,273,350 (GRCm39) |
I575N |
possibly damaging |
Het |
| Gldc |
G |
T |
19: 30,138,168 (GRCm39) |
|
probably benign |
Het |
| Gm17067 |
C |
A |
7: 42,357,462 (GRCm39) |
V347L |
probably benign |
Het |
| Gmds |
T |
A |
13: 32,101,679 (GRCm39) |
N304I |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,895,509 (GRCm39) |
T1686A |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lamb3 |
A |
T |
1: 193,013,683 (GRCm39) |
Q519L |
probably benign |
Het |
| Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,248,285 (GRCm39) |
|
probably benign |
Het |
| Mcfd2 |
C |
G |
17: 87,565,387 (GRCm39) |
G39R |
possibly damaging |
Het |
| Mecom |
T |
C |
3: 30,041,219 (GRCm39) |
H125R |
probably damaging |
Het |
| Or4s2b |
A |
G |
2: 88,508,615 (GRCm39) |
T132A |
possibly damaging |
Het |
| Or5ac15 |
C |
T |
16: 58,940,027 (GRCm39) |
M135I |
probably benign |
Het |
| Pde1c |
T |
A |
6: 56,049,263 (GRCm39) |
R683S |
probably null |
Het |
| Pkn2 |
A |
T |
3: 142,536,217 (GRCm39) |
|
probably benign |
Het |
| Plppr4 |
T |
G |
3: 117,116,046 (GRCm39) |
T604P |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,424,856 (GRCm39) |
I196F |
probably benign |
Het |
| Slc34a2 |
C |
T |
5: 53,226,628 (GRCm39) |
P584S |
probably damaging |
Het |
| Slco5a1 |
A |
T |
1: 13,009,392 (GRCm39) |
M361K |
probably damaging |
Het |
| Snx4 |
T |
A |
16: 33,084,666 (GRCm39) |
I60N |
probably damaging |
Het |
| Sp6 |
T |
C |
11: 96,912,572 (GRCm39) |
L95P |
probably damaging |
Het |
| Stat5b |
A |
G |
11: 100,678,175 (GRCm39) |
F646S |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,490,891 (GRCm39) |
M785T |
probably benign |
Het |
| Tbc1d22a |
T |
A |
15: 86,235,935 (GRCm39) |
C365S |
probably damaging |
Het |
| Tle1 |
ACAGGTTTCTTCAGGTTTCTT |
ACAGGTTTCTT |
4: 72,036,400 (GRCm39) |
|
probably benign |
Het |
| Tnfsf8 |
A |
T |
4: 63,779,264 (GRCm39) |
C11* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,748,485 (GRCm39) |
V4188E |
probably damaging |
Het |
| Ugt2b5 |
T |
A |
5: 87,275,753 (GRCm39) |
H366L |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,101,442 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,683,022 (GRCm39) |
Y3487C |
unknown |
Het |
| Zfp28 |
C |
T |
7: 6,396,441 (GRCm39) |
T292I |
probably benign |
Het |
|
| Other mutations in Nme7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01066:Nme7
|
APN |
1 |
164,172,999 (GRCm39) |
splice site |
probably null |
|
|
IGL01662:Nme7
|
APN |
1 |
164,155,866 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01893:Nme7
|
APN |
1 |
164,172,850 (GRCm39) |
missense |
probably damaging |
0.99 |
|
2107:Nme7
|
UTSW |
1 |
164,172,922 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0255:Nme7
|
UTSW |
1 |
164,172,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3545:Nme7
|
UTSW |
1 |
164,213,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5177:Nme7
|
UTSW |
1 |
164,208,245 (GRCm39) |
nonsense |
probably null |
|
|
R7454:Nme7
|
UTSW |
1 |
164,208,217 (GRCm39) |
nonsense |
probably null |
|
|
R8267:Nme7
|
UTSW |
1 |
164,168,344 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8990:Nme7
|
UTSW |
1 |
164,155,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9570:Nme7
|
UTSW |
1 |
164,206,961 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9781:Nme7
|
UTSW |
1 |
164,155,890 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTCCAAACAGAAGTGACCTTG -3'
(R):5'- ATGCAAAAGTATCAGGGCCG -3'
Sequencing Primer
(F):5'- CAGAAGTGACCTTGTCATATCTTC -3'
(R):5'- GTGAGCTGCATTTCTCACG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation