Incidental Mutation 'R2436:Nme8'
ID |
249598 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nme8
|
Ensembl Gene |
ENSMUSG00000041138 |
Gene Name |
NME/NM23 family member 8 |
Synonyms |
Sptrx-2, 1700056P15Rik, Txndc3 |
MMRRC Submission |
040397-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R2436 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
19829248-19881964 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 19862029 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 200
(F200S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089358
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039340]
[ENSMUST00000091763]
[ENSMUST00000223466]
|
AlphaFold |
Q715T0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039340
AA Change: F200S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047052 Gene: ENSMUSG00000041138 AA Change: F200S
Domain | Start | End | E-Value | Type |
Pfam:Thioredoxin
|
11 |
112 |
3.7e-12 |
PFAM |
Pfam:NDK
|
155 |
283 |
2.3e-14 |
PFAM |
NDK
|
312 |
452 |
3.8e-28 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091763
AA Change: F200S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089358 Gene: ENSMUSG00000041138 AA Change: F200S
Domain | Start | End | E-Value | Type |
Pfam:Thioredoxin
|
11 |
112 |
6.9e-12 |
PFAM |
Pfam:NDK
|
155 |
284 |
1.1e-13 |
PFAM |
NDK
|
312 |
449 |
2.75e-25 |
SMART |
NDK
|
450 |
586 |
1.45e-33 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144820
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220524
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221343
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223286
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223466
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009] PHENOTYPE: Homozygous mutant displays normal reproductive system phenotype [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
A |
G |
16: 56,582,308 (GRCm39) |
S277P |
possibly damaging |
Het |
Arl6ip4 |
T |
C |
5: 124,254,662 (GRCm39) |
S52P |
probably benign |
Het |
Barx2 |
T |
C |
9: 31,824,383 (GRCm39) |
H2R |
probably damaging |
Het |
Calhm3 |
T |
C |
19: 47,140,404 (GRCm39) |
T230A |
probably damaging |
Het |
Card11 |
C |
T |
5: 140,868,117 (GRCm39) |
V844M |
possibly damaging |
Het |
Dnah6 |
C |
T |
6: 73,126,156 (GRCm39) |
R1327Q |
probably benign |
Het |
Dnai4 |
T |
C |
4: 102,923,549 (GRCm39) |
I427V |
probably benign |
Het |
Ehbp1 |
C |
A |
11: 22,039,524 (GRCm39) |
|
probably null |
Het |
Fgg |
T |
A |
3: 82,921,496 (GRCm39) |
I393N |
possibly damaging |
Het |
Foxq1 |
A |
T |
13: 31,742,516 (GRCm39) |
|
probably benign |
Het |
Hmgxb3 |
T |
C |
18: 61,280,566 (GRCm39) |
T646A |
probably benign |
Het |
Homer3 |
G |
A |
8: 70,745,706 (GRCm39) |
E324K |
possibly damaging |
Het |
Krt80 |
A |
G |
15: 101,257,384 (GRCm39) |
F183L |
probably damaging |
Het |
Map3k21 |
A |
T |
8: 126,668,354 (GRCm39) |
K647* |
probably null |
Het |
Mcm3ap |
A |
G |
10: 76,325,891 (GRCm39) |
Y1067C |
probably damaging |
Het |
Myh1 |
G |
T |
11: 67,104,097 (GRCm39) |
Q921H |
probably benign |
Het |
Nploc4 |
T |
C |
11: 120,309,143 (GRCm39) |
N153S |
possibly damaging |
Het |
Or14c45 |
T |
C |
7: 86,176,591 (GRCm39) |
F209L |
probably damaging |
Het |
Or2ak6 |
T |
C |
11: 58,592,952 (GRCm39) |
C142R |
probably damaging |
Het |
Or4a73 |
A |
G |
2: 89,421,117 (GRCm39) |
V114A |
probably benign |
Het |
Or5k1 |
C |
T |
16: 58,617,607 (GRCm39) |
V201I |
probably benign |
Het |
Pipox |
T |
A |
11: 77,782,943 (GRCm39) |
L86F |
probably damaging |
Het |
Polr3h |
G |
T |
15: 81,801,406 (GRCm39) |
L157I |
probably benign |
Het |
Prex2 |
G |
A |
1: 11,336,376 (GRCm39) |
V1525M |
possibly damaging |
Het |
Rapgef2 |
A |
T |
3: 78,996,079 (GRCm39) |
D561E |
possibly damaging |
Het |
Sacs |
A |
T |
14: 61,440,354 (GRCm39) |
D800V |
possibly damaging |
Het |
Sbsn |
A |
T |
7: 30,451,655 (GRCm39) |
L223F |
possibly damaging |
Het |
Slc16a9 |
TCCCC |
TCCCCC |
10: 70,091,911 (GRCm39) |
|
probably null |
Het |
Srrm3 |
G |
T |
5: 135,864,030 (GRCm39) |
E43* |
probably null |
Het |
Tcaf3 |
G |
A |
6: 42,570,663 (GRCm39) |
A363V |
probably damaging |
Het |
Tmem138 |
A |
G |
19: 10,552,268 (GRCm39) |
F78S |
probably damaging |
Het |
Tnfrsf17 |
G |
A |
16: 11,137,676 (GRCm39) |
D138N |
probably damaging |
Het |
Tubgcp6 |
C |
T |
15: 88,986,568 (GRCm39) |
V1344I |
probably benign |
Het |
Usp24 |
T |
A |
4: 106,266,842 (GRCm39) |
L1875* |
probably null |
Het |
Vmn2r109 |
C |
A |
17: 20,774,798 (GRCm39) |
G186C |
probably damaging |
Het |
Zfp541 |
A |
G |
7: 15,810,373 (GRCm39) |
N137D |
possibly damaging |
Het |
|
Other mutations in Nme8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01984:Nme8
|
APN |
13 |
19,873,150 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02272:Nme8
|
APN |
13 |
19,842,996 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02344:Nme8
|
APN |
13 |
19,858,574 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02395:Nme8
|
APN |
13 |
19,862,078 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02621:Nme8
|
APN |
13 |
19,859,818 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02645:Nme8
|
APN |
13 |
19,844,755 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02807:Nme8
|
APN |
13 |
19,860,001 (GRCm39) |
unclassified |
probably benign |
|
IGL03059:Nme8
|
APN |
13 |
19,836,414 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03288:Nme8
|
APN |
13 |
19,880,776 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03323:Nme8
|
APN |
13 |
19,873,120 (GRCm39) |
missense |
probably benign |
0.06 |
R0139:Nme8
|
UTSW |
13 |
19,862,018 (GRCm39) |
missense |
probably benign |
0.19 |
R0616:Nme8
|
UTSW |
13 |
19,875,029 (GRCm39) |
missense |
probably benign |
0.00 |
R0632:Nme8
|
UTSW |
13 |
19,842,206 (GRCm39) |
missense |
probably damaging |
0.96 |
R1233:Nme8
|
UTSW |
13 |
19,844,682 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1288:Nme8
|
UTSW |
13 |
19,858,619 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1305:Nme8
|
UTSW |
13 |
19,881,077 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1773:Nme8
|
UTSW |
13 |
19,881,206 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
R1942:Nme8
|
UTSW |
13 |
19,859,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Nme8
|
UTSW |
13 |
19,836,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R2012:Nme8
|
UTSW |
13 |
19,881,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R2093:Nme8
|
UTSW |
13 |
19,835,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R2392:Nme8
|
UTSW |
13 |
19,873,113 (GRCm39) |
critical splice donor site |
probably null |
|
R2901:Nme8
|
UTSW |
13 |
19,859,834 (GRCm39) |
missense |
probably benign |
0.02 |
R2902:Nme8
|
UTSW |
13 |
19,859,834 (GRCm39) |
missense |
probably benign |
0.02 |
R4665:Nme8
|
UTSW |
13 |
19,858,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R4751:Nme8
|
UTSW |
13 |
19,859,808 (GRCm39) |
critical splice donor site |
probably null |
|
R4785:Nme8
|
UTSW |
13 |
19,842,100 (GRCm39) |
missense |
probably damaging |
0.96 |
R5101:Nme8
|
UTSW |
13 |
19,875,017 (GRCm39) |
critical splice donor site |
probably null |
|
R5217:Nme8
|
UTSW |
13 |
19,880,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R5251:Nme8
|
UTSW |
13 |
19,844,795 (GRCm39) |
missense |
probably benign |
0.33 |
R5356:Nme8
|
UTSW |
13 |
19,836,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R5397:Nme8
|
UTSW |
13 |
19,878,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R5624:Nme8
|
UTSW |
13 |
19,862,038 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6679:Nme8
|
UTSW |
13 |
19,875,140 (GRCm39) |
splice site |
probably null |
|
R7040:Nme8
|
UTSW |
13 |
19,878,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R7111:Nme8
|
UTSW |
13 |
19,859,817 (GRCm39) |
missense |
probably benign |
0.06 |
R7185:Nme8
|
UTSW |
13 |
19,862,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R7670:Nme8
|
UTSW |
13 |
19,842,999 (GRCm39) |
missense |
probably benign |
0.01 |
R7685:Nme8
|
UTSW |
13 |
19,835,145 (GRCm39) |
missense |
probably benign |
0.00 |
R8108:Nme8
|
UTSW |
13 |
19,835,130 (GRCm39) |
missense |
probably benign |
0.00 |
R8331:Nme8
|
UTSW |
13 |
19,843,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R8413:Nme8
|
UTSW |
13 |
19,858,689 (GRCm39) |
missense |
probably benign |
0.01 |
R8808:Nme8
|
UTSW |
13 |
19,859,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R9227:Nme8
|
UTSW |
13 |
19,874,384 (GRCm39) |
missense |
probably benign |
|
R9230:Nme8
|
UTSW |
13 |
19,874,384 (GRCm39) |
missense |
probably benign |
|
R9422:Nme8
|
UTSW |
13 |
19,859,918 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Nme8
|
UTSW |
13 |
19,873,127 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGTGGACATCTTCAAGACACC -3'
(R):5'- GAGCCACTTTAAACCATGTGG -3'
Sequencing Primer
(F):5'- AGACACCAAAATTTATTCAATTGGC -3'
(R):5'- GCCACTTTAAACCATGTGGATTTTC -3'
|
Posted On |
2014-11-12 |