Incidental Mutation 'R4542:Nt5dc2'
| ID |
333602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nt5dc2
|
| Ensembl Gene |
ENSMUSG00000071547 |
| Gene Name |
5'-nucleotidase domain containing 2 |
| Synonyms |
2510015F01Rik |
| MMRRC Submission |
041593-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4542 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30853046-30861081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30860095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 374
(D374E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036618]
[ENSMUST00000090212]
[ENSMUST00000159249]
[ENSMUST00000160024]
[ENSMUST00000227794]
[ENSMUST00000227096]
[ENSMUST00000226588]
|
| AlphaFold |
A0A2I3BR81 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036618
|
| SMART Domains |
Protein: ENSMUSP00000046199
Gene: ENSMUSG00000042286
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
EGF
|
112 |
149 |
6.65e-2 |
SMART |
|
EGF
|
160 |
194 |
2.28e0 |
SMART |
|
EGF
|
199 |
232 |
1.4e0 |
SMART |
|
EGF
|
236 |
272 |
4.97e-1 |
SMART |
|
EGF
|
276 |
319 |
1.95e1 |
SMART |
|
EGF_like
|
321 |
357 |
5.03e1 |
SMART |
|
low complexity region
|
400 |
413 |
N/A |
INTRINSIC |
|
Blast:FAS1
|
414 |
501 |
2e-52 |
BLAST |
|
FAS1
|
543 |
645 |
1.35e-24 |
SMART |
|
EGF_like
|
780 |
817 |
5.45e1 |
SMART |
|
EGF
|
822 |
861 |
1.08e-1 |
SMART |
|
EGF
|
865 |
904 |
3.15e-3 |
SMART |
|
EGF
|
908 |
947 |
1.3e1 |
SMART |
|
EGF
|
951 |
989 |
1.47e1 |
SMART |
|
FAS1
|
1023 |
1122 |
1.3e-17 |
SMART |
|
FAS1
|
1165 |
1257 |
2.94e0 |
SMART |
|
EGF
|
1332 |
1369 |
1.4e0 |
SMART |
|
EGF
|
1379 |
1413 |
1.88e-1 |
SMART |
|
EGF
|
1420 |
1455 |
6.02e0 |
SMART |
|
EGF
|
1459 |
1497 |
3.82e-2 |
SMART |
|
EGF
|
1501 |
1540 |
2.05e-2 |
SMART |
|
EGF
|
1544 |
1583 |
2.25e1 |
SMART |
|
FAS1
|
1616 |
1712 |
1.61e-22 |
SMART |
|
FAS1
|
1763 |
1868 |
2.12e-17 |
SMART |
|
EGF
|
1970 |
2007 |
1.26e-2 |
SMART |
|
EGF
|
2017 |
2051 |
1.61e0 |
SMART |
|
EGF
|
2059 |
2090 |
2.45e0 |
SMART |
|
EGF
|
2094 |
2131 |
3.46e0 |
SMART |
|
EGF
|
2135 |
2174 |
3.82e-2 |
SMART |
|
LINK
|
2206 |
2301 |
8.55e-49 |
SMART |
|
FAS1
|
2367 |
2462 |
2.06e-6 |
SMART |
|
transmembrane domain
|
2476 |
2498 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090212
AA Change: D211E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000087680
Gene: ENSMUSG00000071547
AA Change: D211E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5_nucleotid
|
1 |
367 |
1.5e-123 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159249
|
| SMART Domains |
Protein: ENSMUSP00000125542
Gene: ENSMUSG00000042286
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
110 |
147 |
1.26e-2 |
SMART |
|
EGF
|
157 |
191 |
1.61e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159480
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160024
|
| SMART Domains |
Protein: ENSMUSP00000125239
Gene: ENSMUSG00000042286
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:FAS1
|
1 |
32 |
5e-14 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160720
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227794
AA Change: D314E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227096
AA Change: D374E
PolyPhen 2
Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000226975
AA Change: D284E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227690
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226588
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,163,875 (GRCm39) |
L833Q |
probably damaging |
Het |
| Adcy6 |
C |
G |
15: 98,496,869 (GRCm39) |
V469L |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bean1 |
T |
A |
8: 104,937,591 (GRCm39) |
F57I |
probably damaging |
Het |
| Brinp1 |
T |
C |
4: 68,680,329 (GRCm39) |
I734V |
probably benign |
Het |
| Cab39l |
C |
A |
14: 59,734,351 (GRCm39) |
D23E |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,860,991 (GRCm39) |
T839A |
probably benign |
Het |
| Clgn |
A |
G |
8: 84,146,838 (GRCm39) |
E297G |
probably damaging |
Het |
| Crip1 |
A |
G |
12: 113,117,109 (GRCm39) |
Y108C |
probably damaging |
Het |
| Cxcr2 |
A |
G |
1: 74,197,688 (GRCm39) |
S61G |
probably benign |
Het |
| Dph5 |
T |
C |
3: 115,722,274 (GRCm39) |
S251P |
probably damaging |
Het |
| E2f7 |
T |
A |
10: 110,602,984 (GRCm39) |
V333E |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,930,728 (GRCm39) |
D918G |
probably damaging |
Het |
| Epn1 |
A |
G |
7: 5,096,980 (GRCm39) |
E254G |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,494,931 (GRCm39) |
C4065R |
probably damaging |
Het |
| Gja1 |
T |
C |
10: 56,264,148 (GRCm39) |
F169S |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,279,684 (GRCm39) |
I1384T |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,878,593 (GRCm39) |
L302* |
probably null |
Het |
| Nalcn |
T |
C |
14: 123,558,889 (GRCm39) |
|
silent |
Het |
| Nlrp1b |
A |
C |
11: 71,119,151 (GRCm39) |
L48W |
probably damaging |
Het |
| Nlrp4c |
G |
A |
7: 6,103,826 (GRCm39) |
W920* |
probably null |
Het |
| Nr2f1 |
C |
T |
13: 78,337,940 (GRCm39) |
G235D |
probably damaging |
Het |
| Or2d3 |
GAACAACAACAA |
GAACAACAA |
7: 106,490,567 (GRCm39) |
|
probably benign |
Het |
| Or51e2 |
T |
C |
7: 102,391,850 (GRCm39) |
D120G |
probably damaging |
Het |
| Or5ak23 |
T |
C |
2: 85,244,287 (GRCm39) |
D312G |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,283,589 (GRCm39) |
I742T |
probably damaging |
Het |
| Rftn1 |
A |
G |
17: 50,362,259 (GRCm39) |
|
probably null |
Het |
| Rfx1 |
G |
A |
8: 84,816,866 (GRCm39) |
G466S |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,584,200 (GRCm39) |
S1472T |
probably damaging |
Het |
| Sh2d4a |
A |
G |
8: 68,799,394 (GRCm39) |
Q421R |
probably benign |
Het |
| Slc25a10 |
G |
A |
11: 120,388,807 (GRCm39) |
|
probably null |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,204,097 (GRCm39) |
Y1510C |
unknown |
Het |
| Ssu72 |
A |
G |
4: 155,817,934 (GRCm39) |
Q163R |
probably benign |
Het |
| Stau1 |
A |
G |
2: 166,795,181 (GRCm39) |
Y223H |
probably damaging |
Het |
| Syne3 |
A |
T |
12: 104,935,503 (GRCm39) |
S92T |
probably benign |
Het |
| Ulbp1 |
T |
C |
10: 7,406,570 (GRCm39) |
D45G |
probably damaging |
Het |
| Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,357 (GRCm39) |
Y207C |
probably damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,497 (GRCm39) |
D305G |
possibly damaging |
Het |
| Zbtb18 |
A |
G |
1: 177,276,232 (GRCm39) |
K522E |
probably damaging |
Het |
|
| Other mutations in Nt5dc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Earthen
|
UTSW |
14 |
30,860,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Shard
|
UTSW |
14 |
30,860,878 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1782:Nt5dc2
|
UTSW |
14 |
30,860,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3974:Nt5dc2
|
UTSW |
14 |
30,860,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3975:Nt5dc2
|
UTSW |
14 |
30,860,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3976:Nt5dc2
|
UTSW |
14 |
30,860,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4677:Nt5dc2
|
UTSW |
14 |
30,860,878 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4953:Nt5dc2
|
UTSW |
14 |
30,860,878 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5092:Nt5dc2
|
UTSW |
14 |
30,860,989 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6523:Nt5dc2
|
UTSW |
14 |
30,857,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7984:Nt5dc2
|
UTSW |
14 |
30,860,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8083:Nt5dc2
|
UTSW |
14 |
30,856,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8165:Nt5dc2
|
UTSW |
14 |
30,860,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9108:Nt5dc2
|
UTSW |
14 |
30,857,016 (GRCm39) |
nonsense |
probably null |
|
|
R9224:Nt5dc2
|
UTSW |
14 |
30,857,665 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGAGGTGTTTCTACCGCAG -3'
(R):5'- CCGTGTTGATGATGCGGATCTC -3'
Sequencing Primer
(F):5'- TCCTATTGGAAGGGGGAAGC -3'
(R):5'- AGCTCAGGGATGATGGCTC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation