Incidental Mutation 'R1942:Nme8'
| ID |
216315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nme8
|
| Ensembl Gene |
ENSMUSG00000041138 |
| Gene Name |
NME/NM23 family member 8 |
| Synonyms |
Sptrx-2, 1700056P15Rik, Txndc3 |
| MMRRC Submission |
039960-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R1942 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
19645078-19697794 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19675808 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 214
(V214A)
|
| 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: V214A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047052
Gene: ENSMUSG00000041138
AA Change: V214A
| 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: V214A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138
AA Change: V214A
| 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
|
| Meta Mutation Damage Score |
0.4005 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| Validation Efficiency |
100% (75/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001L19Rik |
A |
C |
13: 68,612,971 |
I171L |
probably benign |
Het |
| 4930407I10Rik |
A |
T |
15: 82,065,424 |
Y1174F |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 9,015,083 |
E4577G |
probably damaging |
Het |
| Anapc4 |
T |
C |
5: 52,846,714 |
V291A |
probably benign |
Het |
| Apba2 |
A |
G |
7: 64,695,470 |
E136G |
possibly damaging |
Het |
| Arhgap20 |
C |
A |
9: 51,831,698 |
Q279K |
probably benign |
Het |
| B3galnt1 |
A |
T |
3: 69,575,925 |
M1K |
probably null |
Het |
| C4bp |
C |
A |
1: 130,656,067 |
|
probably benign |
Het |
| Catsperg1 |
G |
A |
7: 29,206,807 |
T157I |
possibly damaging |
Het |
| Chrm1 |
T |
A |
19: 8,678,273 |
M114K |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,501,348 |
E329G |
possibly damaging |
Het |
| Clrn2 |
A |
C |
5: 45,453,995 |
Y62S |
probably benign |
Het |
| Col12a1 |
T |
G |
9: 79,635,466 |
D2339A |
probably damaging |
Het |
| Copa |
T |
A |
1: 172,111,888 |
L564Q |
probably damaging |
Het |
| Cpeb2 |
C |
A |
5: 43,235,253 |
|
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,265,144 |
M647K |
probably damaging |
Het |
| Diaph3 |
C |
T |
14: 87,141,120 |
|
probably benign |
Het |
| Eomes |
A |
G |
9: 118,484,648 |
D587G |
probably benign |
Het |
| Gm5142 |
T |
A |
14: 59,178,707 |
M1L |
probably benign |
Het |
| Gnl2 |
A |
G |
4: 125,030,164 |
I12V |
probably benign |
Het |
| Gprin1 |
C |
T |
13: 54,739,939 |
C174Y |
probably benign |
Het |
| Grin2b |
A |
T |
6: 135,732,732 |
V1272E |
possibly damaging |
Het |
| Hdac9 |
A |
G |
12: 34,429,545 |
L227S |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,602,492 |
L247Q |
probably benign |
Het |
| Hs6st1 |
T |
C |
1: 36,068,722 |
V22A |
probably benign |
Het |
| Hspg2 |
C |
A |
4: 137,542,552 |
A2304E |
possibly damaging |
Het |
| Htr3a |
T |
C |
9: 48,908,611 |
Y73C |
probably damaging |
Het |
| Il1rap |
A |
C |
16: 26,722,455 |
E482A |
probably damaging |
Het |
| Itsn2 |
T |
A |
12: 4,639,670 |
L581* |
probably null |
Het |
| Msmb |
A |
G |
14: 32,148,077 |
E2G |
probably benign |
Het |
| Muc19 |
T |
C |
15: 91,892,472 |
|
noncoding transcript |
Het |
| Muc4 |
A |
C |
16: 32,750,642 |
L173F |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,857,684 |
S1456C |
unknown |
Het |
| Mylip |
A |
T |
13: 45,406,696 |
I203F |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 126,024,302 |
D1504E |
probably damaging |
Het |
| Neil1 |
C |
G |
9: 57,146,607 |
R143P |
probably benign |
Het |
| Nlrp2 |
T |
A |
7: 5,322,448 |
T742S |
probably damaging |
Het |
| Nsun7 |
C |
T |
5: 66,284,245 |
T419I |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,151,237 |
E648K |
probably benign |
Het |
| Olfr1386 |
T |
C |
11: 49,470,154 |
M1T |
probably null |
Het |
| Olfr283 |
A |
G |
15: 98,378,564 |
L182P |
probably damaging |
Het |
| Olfr981 |
T |
C |
9: 40,022,752 |
Y120H |
probably damaging |
Het |
| Olfr981 |
T |
A |
9: 40,022,735 |
L114H |
probably damaging |
Het |
| Parp11 |
A |
C |
6: 127,470,700 |
|
probably null |
Het |
| Pomgnt1 |
G |
T |
4: 116,155,275 |
|
probably null |
Het |
| Ppp1r14c |
T |
C |
10: 3,463,417 |
I150T |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,405,793 |
E908G |
probably damaging |
Het |
| Psmd6 |
A |
T |
14: 14,116,442 |
V91E |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,169,381 |
V634D |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,657,263 |
I753V |
possibly damaging |
Het |
| Rbm45 |
G |
A |
2: 76,375,479 |
|
probably null |
Het |
| Ric1 |
A |
G |
19: 29,601,016 |
|
probably benign |
Het |
| Sh3rf2 |
A |
G |
18: 42,149,624 |
K416E |
probably damaging |
Het |
| Six5 |
C |
T |
7: 19,096,933 |
A495V |
possibly damaging |
Het |
| Slc27a6 |
T |
A |
18: 58,556,798 |
M112K |
probably damaging |
Het |
| Slc5a4a |
T |
C |
10: 76,147,588 |
S20P |
unknown |
Het |
| Smg1 |
A |
G |
7: 118,158,103 |
|
probably benign |
Het |
| Sntb2 |
G |
A |
8: 107,011,352 |
A511T |
probably damaging |
Het |
| Stk31 |
A |
T |
6: 49,439,127 |
N622I |
probably damaging |
Het |
| Sulf1 |
T |
C |
1: 12,848,173 |
F38S |
probably damaging |
Het |
| Szt2 |
G |
T |
4: 118,392,620 |
T521K |
probably benign |
Het |
| Terf1 |
G |
T |
1: 15,805,814 |
R46I |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,923,511 |
|
probably benign |
Het |
| Tmigd1 |
T |
C |
11: 76,914,079 |
|
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 |
P46S |
probably benign |
Het |
| Umod |
A |
G |
7: 119,476,932 |
Y204H |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,703,424 |
Q1139L |
probably benign |
Het |
| Vmn1r85 |
T |
A |
7: 13,084,741 |
T159S |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 19,812,300 |
S779T |
probably benign |
Het |
| Vmn2r27 |
C |
T |
6: 124,223,763 |
A412T |
probably damaging |
Het |
| Zc3h12d |
A |
C |
10: 7,853,313 |
D147A |
probably damaging |
Het |
| Zfp800 |
A |
T |
6: 28,243,273 |
D564E |
probably benign |
Het |
| Zfp932 |
A |
G |
5: 110,006,987 |
E17G |
probably damaging |
Het |
|
| Other mutations in Nme8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01984:Nme8
|
APN |
13 |
19,688,980 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02272:Nme8
|
APN |
13 |
19,658,826 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02344:Nme8
|
APN |
13 |
19,674,404 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02395:Nme8
|
APN |
13 |
19,677,908 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL02621:Nme8
|
APN |
13 |
19,675,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02645:Nme8
|
APN |
13 |
19,660,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02807:Nme8
|
APN |
13 |
19,675,831 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03059:Nme8
|
APN |
13 |
19,652,244 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL03288:Nme8
|
APN |
13 |
19,696,606 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL03323:Nme8
|
APN |
13 |
19,688,950 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0139:Nme8
|
UTSW |
13 |
19,677,848 (GRCm38) |
missense |
probably benign |
0.19 |
|
R0616:Nme8
|
UTSW |
13 |
19,690,859 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0632:Nme8
|
UTSW |
13 |
19,658,036 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1233:Nme8
|
UTSW |
13 |
19,660,512 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R1288:Nme8
|
UTSW |
13 |
19,674,449 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R1305:Nme8
|
UTSW |
13 |
19,696,907 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1773:Nme8
|
UTSW |
13 |
19,697,036 (GRCm38) |
start codon destroyed |
probably damaging |
1.00 |
|
R1970:Nme8
|
UTSW |
13 |
19,652,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2012:Nme8
|
UTSW |
13 |
19,696,883 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2093:Nme8
|
UTSW |
13 |
19,650,872 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2392:Nme8
|
UTSW |
13 |
19,688,943 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2436:Nme8
|
UTSW |
13 |
19,677,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2901:Nme8
|
UTSW |
13 |
19,675,664 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2902:Nme8
|
UTSW |
13 |
19,675,664 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4665:Nme8
|
UTSW |
13 |
19,674,435 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4751:Nme8
|
UTSW |
13 |
19,675,638 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4785:Nme8
|
UTSW |
13 |
19,657,930 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5101:Nme8
|
UTSW |
13 |
19,690,847 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5217:Nme8
|
UTSW |
13 |
19,696,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5251:Nme8
|
UTSW |
13 |
19,660,625 (GRCm38) |
missense |
probably benign |
0.33 |
|
R5356:Nme8
|
UTSW |
13 |
19,652,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5397:Nme8
|
UTSW |
13 |
19,694,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5624:Nme8
|
UTSW |
13 |
19,677,868 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6679:Nme8
|
UTSW |
13 |
19,690,970 (GRCm38) |
splice site |
probably null |
|
|
R7040:Nme8
|
UTSW |
13 |
19,694,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7111:Nme8
|
UTSW |
13 |
19,675,647 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7185:Nme8
|
UTSW |
13 |
19,677,883 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7670:Nme8
|
UTSW |
13 |
19,658,829 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7685:Nme8
|
UTSW |
13 |
19,650,975 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8108:Nme8
|
UTSW |
13 |
19,650,960 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8331:Nme8
|
UTSW |
13 |
19,658,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8413:Nme8
|
UTSW |
13 |
19,674,519 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8808:Nme8
|
UTSW |
13 |
19,675,808 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9227:Nme8
|
UTSW |
13 |
19,690,214 (GRCm38) |
missense |
probably benign |
|
|
R9230:Nme8
|
UTSW |
13 |
19,690,214 (GRCm38) |
missense |
probably benign |
|
|
R9422:Nme8
|
UTSW |
13 |
19,675,748 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1088:Nme8
|
UTSW |
13 |
19,688,957 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGCTTGTCTTAGCTACCTG -3'
(R):5'- CCTGGATGTATATGTCTACTGTGC -3'
Sequencing Primer
(F):5'- GCTTGTCTTAGCTACCTGTCCCG -3'
(R):5'- CTGTGCAAAAATGTCCCTGG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation