Incidental Mutation 'R4475:Smpd5'
| ID |
330532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smpd5
|
| Ensembl Gene |
ENSMUSG00000071724 |
| Gene Name |
sphingomyelin phosphodiesterase 5 |
| Synonyms |
Gm10345 |
| MMRRC Submission |
041732-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R4475 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76178548-76181096 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76178926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 98
(L98P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023222]
[ENSMUST00000074173]
[ENSMUST00000163991]
[ENSMUST00000171192]
[ENSMUST00000230221]
[ENSMUST00000171340]
|
| AlphaFold |
D6MZJ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023222
|
| SMART Domains |
Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydant_A_N
|
9 |
212 |
1.5e-63 |
PFAM |
|
Pfam:Hydantoinase_A
|
231 |
531 |
6.4e-109 |
PFAM |
|
low complexity region
|
629 |
637 |
N/A |
INTRINSIC |
|
Pfam:Hydantoinase_B
|
734 |
1256 |
5.2e-225 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074173
|
| SMART Domains |
Protein: ENSMUSP00000073805
Gene: ENSMUSG00000049653
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Speriolin_N
|
1 |
176 |
5.1e-67 |
PFAM |
|
Pfam:Speriolin_N
|
172 |
262 |
1.2e-25 |
PFAM |
|
Pfam:Speriolin_C
|
334 |
480 |
1.5e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000096370
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163991
AA Change: L98P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134687
Gene: ENSMUSG00000071724
AA Change: L98P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
77 |
99 |
N/A |
INTRINSIC |
|
Pfam:Exo_endo_phos
|
176 |
471 |
4.1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169664
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170261
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175428
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230735
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171192
|
| SMART Domains |
Protein: ENSMUSP00000133693
Gene: ENSMUSG00000071724
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
46 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171340
|
| SMART Domains |
Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydant_A_N
|
9 |
212 |
2.8e-60 |
PFAM |
|
Pfam:Hydantoinase_A
|
231 |
531 |
6.6e-102 |
PFAM |
|
low complexity region
|
629 |
637 |
N/A |
INTRINSIC |
|
Pfam:Hydantoinase_B
|
733 |
1260 |
8.2e-190 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
A |
16: 14,407,227 (GRCm39) |
I52N |
possibly damaging |
Het |
| Adgra3 |
A |
T |
5: 50,159,240 (GRCm39) |
Y337N |
probably damaging |
Het |
| Aga |
T |
C |
8: 53,964,871 (GRCm39) |
L11P |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,188,426 (GRCm39) |
F1947L |
probably benign |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,817 (GRCm39) |
I114T |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,094,544 (GRCm39) |
T904A |
probably damaging |
Het |
| Dbh |
T |
A |
2: 27,070,984 (GRCm39) |
|
probably null |
Het |
| Dgkh |
T |
C |
14: 78,827,318 (GRCm39) |
D858G |
possibly damaging |
Het |
| Dlx5 |
T |
C |
6: 6,881,663 (GRCm39) |
Y75C |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,875,959 (GRCm39) |
F529L |
probably benign |
Het |
| Epg5 |
A |
C |
18: 77,991,723 (GRCm39) |
D140A |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,180,716 (GRCm39) |
D402N |
probably benign |
Het |
| Hells |
A |
G |
19: 38,933,973 (GRCm39) |
T265A |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspa8 |
T |
A |
9: 40,715,442 (GRCm39) |
|
probably benign |
Het |
| Ighm |
A |
G |
12: 113,384,513 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
C |
T |
9: 72,578,521 (GRCm39) |
R78* |
probably null |
Het |
| Nrxn1 |
G |
T |
17: 91,009,410 (GRCm39) |
N388K |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,672,824 (GRCm39) |
Y320* |
probably null |
Het |
| Or10j2 |
T |
C |
1: 173,098,480 (GRCm39) |
V246A |
probably damaging |
Het |
| Or9s27 |
T |
C |
1: 92,516,301 (GRCm39) |
V83A |
probably benign |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,235,170 (GRCm39) |
L809P |
probably damaging |
Het |
| Plek |
C |
T |
11: 16,935,528 (GRCm39) |
|
probably null |
Het |
| Prg4 |
T |
C |
1: 150,330,610 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
T |
C |
1: 9,615,810 (GRCm39) |
L21P |
probably damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,926,650 (GRCm39) |
S625P |
probably benign |
Het |
| Srpra |
A |
G |
9: 35,124,155 (GRCm39) |
K34E |
possibly damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,609,080 (GRCm39) |
V719A |
possibly damaging |
Het |
| Tmem52b |
C |
T |
6: 129,491,219 (GRCm39) |
H37Y |
probably benign |
Het |
| Tnip1 |
A |
G |
11: 54,830,422 (GRCm39) |
|
probably null |
Het |
| Trim3 |
A |
G |
7: 105,267,009 (GRCm39) |
Y457H |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,407,975 (GRCm39) |
I2600T |
possibly damaging |
Het |
| Vmn2r129 |
T |
G |
4: 156,691,085 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp365 |
C |
A |
10: 67,724,750 (GRCm39) |
K379N |
possibly damaging |
Het |
|
| Other mutations in Smpd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R4411:Smpd5
|
UTSW |
15 |
76,179,112 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4715:Smpd5
|
UTSW |
15 |
76,179,893 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4745:Smpd5
|
UTSW |
15 |
76,179,008 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4879:Smpd5
|
UTSW |
15 |
76,179,070 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5409:Smpd5
|
UTSW |
15 |
76,179,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5533:Smpd5
|
UTSW |
15 |
76,178,757 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5579:Smpd5
|
UTSW |
15 |
76,179,325 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6076:Smpd5
|
UTSW |
15 |
76,179,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7531:Smpd5
|
UTSW |
15 |
76,180,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7826:Smpd5
|
UTSW |
15 |
76,180,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8184:Smpd5
|
UTSW |
15 |
76,179,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Smpd5
|
UTSW |
15 |
76,180,501 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Z1177:Smpd5
|
UTSW |
15 |
76,180,451 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTTTATCCCGCGTGCTG -3'
(R):5'- TGTGACGATTGAAGGCTATCTAG -3'
Sequencing Primer
(F):5'- GCTGCTTTTCCCGACTTACTGG -3'
(R):5'- TATCTAGCAGTGCGGCCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation