Incidental Mutation 'R1716:Smpd4'
| ID |
191067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smpd4
|
| Ensembl Gene |
ENSMUSG00000005899 |
| Gene Name |
sphingomyelin phosphodiesterase 4 |
| Synonyms |
4122402O22Rik, neutral membrane (neutral sphingomyelinase-3) |
| MMRRC Submission |
039749-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R1716 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17437218-17462692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17460365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 694
(S694P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006053]
[ENSMUST00000056962]
[ENSMUST00000090159]
[ENSMUST00000163476]
[ENSMUST00000163997]
[ENSMUST00000165363]
[ENSMUST00000170996]
[ENSMUST00000170273]
[ENSMUST00000170366]
[ENSMUST00000182344]
[ENSMUST00000182368]
[ENSMUST00000182117]
[ENSMUST00000231436]
[ENSMUST00000231792]
[ENSMUST00000232271]
[ENSMUST00000232021]
[ENSMUST00000231627]
[ENSMUST00000231722]
[ENSMUST00000232116]
|
| AlphaFold |
Q6ZPR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006053
AA Change: S724P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006053
Gene: ENSMUSG00000005899
AA Change: S724P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:mit_SMPDase
|
8 |
768 |
N/A |
PFAM |
|
transmembrane domain
|
769 |
791 |
N/A |
INTRINSIC |
|
transmembrane domain
|
798 |
815 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056962
|
| SMART Domains |
Protein: ENSMUSP00000049541
Gene: ENSMUSG00000041617
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:CCDC92
|
50 |
105 |
4.1e-24 |
PFAM |
|
low complexity region
|
154 |
164 |
N/A |
INTRINSIC |
|
Pfam:CCDC74_C
|
209 |
326 |
1.4e-49 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090159
AA Change: S708P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087620
Gene: ENSMUSG00000005899
AA Change: S708P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:mit_SMPDase
|
8 |
288 |
7.4e-177 |
PFAM |
|
Pfam:mit_SMPDase
|
287 |
752 |
9.4e-259 |
PFAM |
|
transmembrane domain
|
753 |
775 |
N/A |
INTRINSIC |
|
transmembrane domain
|
782 |
799 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163476
AA Change: S695P
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131867
Gene: ENSMUSG00000005899
AA Change: S695P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:mit_SMPDase
|
8 |
289 |
6.2e-177 |
PFAM |
|
Pfam:mit_SMPDase
|
285 |
739 |
9.8e-266 |
PFAM |
|
transmembrane domain
|
740 |
762 |
N/A |
INTRINSIC |
|
transmembrane domain
|
769 |
786 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163997
AA Change: S474P
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128595
Gene: ENSMUSG00000005899
AA Change: S474P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:mit_SMPDase
|
8 |
43 |
2.1e-17 |
PFAM |
|
Pfam:mit_SMPDase
|
42 |
68 |
2.5e-13 |
PFAM |
|
Pfam:mit_SMPDase
|
65 |
518 |
4.9e-266 |
PFAM |
|
transmembrane domain
|
519 |
541 |
N/A |
INTRINSIC |
|
transmembrane domain
|
548 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164292
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165363
AA Change: S694P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130720
Gene: ENSMUSG00000005899
AA Change: S694P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:mit_SMPDase
|
8 |
289 |
6.2e-177 |
PFAM |
|
Pfam:mit_SMPDase
|
285 |
738 |
4.1e-262 |
PFAM |
|
transmembrane domain
|
739 |
761 |
N/A |
INTRINSIC |
|
transmembrane domain
|
768 |
785 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170996
AA Change: S400P
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129074
Gene: ENSMUSG00000005899
AA Change: S400P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:mit_SMPDase
|
26 |
444 |
4.4e-234 |
PFAM |
|
transmembrane domain
|
445 |
467 |
N/A |
INTRINSIC |
|
transmembrane domain
|
474 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170273
AA Change: S622P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129957
Gene: ENSMUSG00000005899
AA Change: S622P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:mit_SMPDase
|
8 |
43 |
2.6e-17 |
PFAM |
|
Pfam:mit_SMPDase
|
41 |
215 |
4.1e-103 |
PFAM |
|
Pfam:mit_SMPDase
|
214 |
666 |
1.3e-265 |
PFAM |
|
transmembrane domain
|
667 |
689 |
N/A |
INTRINSIC |
|
transmembrane domain
|
696 |
713 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170366
AA Change: S652P
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000130990
Gene: ENSMUSG00000005899
AA Change: S652P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:mit_SMPDase
|
8 |
288 |
7.1e-177 |
PFAM |
|
Pfam:mit_SMPDase
|
286 |
643 |
1.8e-214 |
PFAM |
|
Pfam:mit_SMPDase
|
642 |
696 |
8.6e-18 |
PFAM |
|
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
|
transmembrane domain
|
726 |
743 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167592
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170401
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182344
|
| SMART Domains |
Protein: ENSMUSP00000138131
Gene: ENSMUSG00000041617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC92
|
18 |
79 |
1.4e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182368
|
| SMART Domains |
Protein: ENSMUSP00000138262
Gene: ENSMUSG00000041617
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:CCDC92
|
49 |
110 |
2.9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182671
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182976
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182117
|
| SMART Domains |
Protein: ENSMUSP00000138657
Gene: ENSMUSG00000041617
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:CCDC92
|
36 |
97 |
2e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183101
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231436
AA Change: S652P
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231792
AA Change: S474P
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232271
AA Change: S400P
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232021
AA Change: S622P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231378
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232417
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232185
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232270
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232468
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232116
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183279
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sphingomyelinases (EC 3.1.4.12), such as SMPD4, catalyze the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (Krut et al., 2006 [PubMed 16517606]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,731,946 (GRCm39) |
T2A |
unknown |
Het |
| Adgrf3 |
T |
A |
5: 30,402,549 (GRCm39) |
Q493L |
probably benign |
Het |
| Ak6 |
T |
C |
13: 100,792,177 (GRCm39) |
S207P |
probably benign |
Het |
| Ang |
A |
G |
14: 51,338,937 (GRCm39) |
D26G |
probably benign |
Het |
| Ang |
T |
C |
14: 51,338,957 (GRCm39) |
F33L |
probably damaging |
Het |
| Arhgef38 |
T |
A |
3: 132,846,598 (GRCm39) |
Y389F |
probably benign |
Het |
| Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
| Bicd2 |
C |
A |
13: 49,531,786 (GRCm39) |
H343N |
probably benign |
Het |
| Casp4 |
G |
A |
9: 5,308,919 (GRCm39) |
|
probably null |
Het |
| Cd22 |
A |
G |
7: 30,577,103 (GRCm39) |
F68S |
probably damaging |
Het |
| Cd46 |
T |
A |
1: 194,760,117 (GRCm39) |
Q245L |
probably benign |
Het |
| Cntnap2 |
A |
T |
6: 47,084,826 (GRCm39) |
R1096* |
probably null |
Het |
| Cntnap3 |
A |
G |
13: 64,909,816 (GRCm39) |
V763A |
probably damaging |
Het |
| Cyp3a11 |
T |
C |
5: 145,805,776 (GRCm39) |
T171A |
probably benign |
Het |
| Defa30 |
A |
G |
8: 21,625,431 (GRCm39) |
Y65C |
probably damaging |
Het |
| Defb18 |
A |
T |
1: 18,306,875 (GRCm39) |
M27K |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,923,424 (GRCm39) |
S4071P |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,230,943 (GRCm39) |
D1400E |
probably damaging |
Het |
| Dpysl5 |
C |
T |
5: 30,935,338 (GRCm39) |
T147I |
probably benign |
Het |
| Dsg4 |
C |
T |
18: 20,595,518 (GRCm39) |
R574* |
probably null |
Het |
| Entrep2 |
A |
T |
7: 64,426,633 (GRCm39) |
|
probably null |
Het |
| Epm2a |
A |
G |
10: 11,324,580 (GRCm39) |
E223G |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,748,492 (GRCm39) |
S75P |
probably damaging |
Het |
| Fbxw15 |
T |
A |
9: 109,386,204 (GRCm39) |
M312L |
probably benign |
Het |
| Fcgr4 |
C |
T |
1: 170,847,672 (GRCm39) |
T90I |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,700,584 (GRCm39) |
D201E |
probably benign |
Het |
| Gadl1 |
A |
T |
9: 115,835,576 (GRCm39) |
K335* |
probably null |
Het |
| Gcsam |
T |
G |
16: 45,440,356 (GRCm39) |
V133G |
probably damaging |
Het |
| Gml |
G |
T |
15: 74,685,665 (GRCm39) |
L107I |
possibly damaging |
Het |
| Golga2 |
T |
A |
2: 32,192,909 (GRCm39) |
L409Q |
probably damaging |
Het |
| Gtf2a1l |
A |
T |
17: 89,002,008 (GRCm39) |
Q241L |
probably benign |
Het |
| Gtf3c3 |
A |
G |
1: 54,438,419 (GRCm39) |
Y799H |
probably damaging |
Het |
| Guca1b |
T |
G |
17: 47,702,126 (GRCm39) |
|
probably benign |
Het |
| Igdcc4 |
C |
A |
9: 65,034,179 (GRCm39) |
H617Q |
probably damaging |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Itga2b |
A |
C |
11: 102,351,603 (GRCm39) |
I574S |
probably benign |
Het |
| Kcnk7 |
A |
T |
19: 5,756,859 (GRCm39) |
I283F |
probably damaging |
Het |
| Kirrel3 |
T |
A |
9: 34,934,843 (GRCm39) |
L450M |
probably damaging |
Het |
| Lmntd1 |
A |
T |
6: 145,365,600 (GRCm39) |
S176R |
probably damaging |
Het |
| Lrrc39 |
C |
T |
3: 116,373,216 (GRCm39) |
T292I |
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,622,019 (GRCm39) |
H801L |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,295,196 (GRCm39) |
Q3318L |
probably damaging |
Het |
| Man1b1 |
T |
A |
2: 25,235,032 (GRCm39) |
N282K |
probably benign |
Het |
| Map2k6 |
A |
T |
11: 110,388,727 (GRCm39) |
E223V |
probably damaging |
Het |
| Marf1 |
C |
A |
16: 13,960,450 (GRCm39) |
R531S |
possibly damaging |
Het |
| Mfge8 |
G |
A |
7: 78,792,191 (GRCm39) |
R245C |
probably damaging |
Het |
| Mogat1 |
T |
G |
1: 78,514,681 (GRCm39) |
N318K |
probably benign |
Het |
| Myh4 |
T |
A |
11: 67,141,135 (GRCm39) |
S732R |
possibly damaging |
Het |
| Myt1l |
T |
A |
12: 29,861,537 (GRCm39) |
D106E |
unknown |
Het |
| Ndc1 |
T |
C |
4: 107,241,992 (GRCm39) |
F302L |
probably damaging |
Het |
| Ndrg4 |
C |
T |
8: 96,438,956 (GRCm39) |
A290V |
probably benign |
Het |
| Nfia |
A |
T |
4: 97,951,365 (GRCm39) |
K397N |
probably damaging |
Het |
| Nlrp4e |
A |
T |
7: 23,020,458 (GRCm39) |
Q315L |
possibly damaging |
Het |
| Oga |
C |
A |
19: 45,740,613 (GRCm39) |
K907N |
probably benign |
Het |
| Or10p22 |
A |
C |
10: 128,826,721 (GRCm39) |
*313C |
probably null |
Het |
| Or1ad8 |
T |
A |
11: 50,898,679 (GRCm39) |
N293K |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,710,780 (GRCm39) |
I1481V |
possibly damaging |
Het |
| Phldb2 |
C |
T |
16: 45,595,413 (GRCm39) |
G883D |
probably benign |
Het |
| Pik3c2b |
T |
A |
1: 133,022,564 (GRCm39) |
Y1169N |
probably damaging |
Het |
| Plcl1 |
A |
T |
1: 55,734,997 (GRCm39) |
I113F |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,171,610 (GRCm39) |
I457V |
probably benign |
Het |
| Ppil1 |
T |
C |
17: 29,480,809 (GRCm39) |
N38S |
possibly damaging |
Het |
| Prf1 |
A |
G |
10: 61,136,231 (GRCm39) |
N169S |
probably benign |
Het |
| Prmt8 |
A |
C |
6: 127,703,486 (GRCm39) |
|
probably null |
Het |
| Ptprg |
T |
A |
14: 12,154,360 (GRCm38) |
S694T |
probably benign |
Het |
| Rab12 |
A |
T |
17: 66,807,315 (GRCm39) |
M138K |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,160,093 (GRCm39) |
T2159A |
probably damaging |
Het |
| Retsat |
A |
T |
6: 72,583,063 (GRCm39) |
Y36F |
probably damaging |
Het |
| Rgs14 |
A |
T |
13: 55,526,696 (GRCm39) |
Q116L |
probably damaging |
Het |
| Rlbp1 |
A |
T |
7: 79,025,684 (GRCm39) |
N252K |
probably damaging |
Het |
| Rtraf |
A |
G |
14: 19,862,242 (GRCm39) |
L215P |
probably damaging |
Het |
| Sec1 |
A |
T |
7: 45,328,789 (GRCm39) |
M86K |
probably benign |
Het |
| Sec24b |
A |
T |
3: 129,834,665 (GRCm39) |
S42T |
possibly damaging |
Het |
| Serpinb9d |
T |
C |
13: 33,380,500 (GRCm39) |
S129P |
probably damaging |
Het |
| Slc35f5 |
T |
G |
1: 125,512,269 (GRCm39) |
D356E |
possibly damaging |
Het |
| Spag6 |
G |
T |
2: 18,750,420 (GRCm39) |
|
probably null |
Het |
| Spata31d1c |
T |
C |
13: 65,181,030 (GRCm39) |
I43T |
possibly damaging |
Het |
| Ssh1 |
T |
C |
5: 114,090,081 (GRCm39) |
D314G |
possibly damaging |
Het |
| Tnfrsf17 |
G |
A |
16: 11,137,595 (GRCm39) |
D111N |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,553,635 (GRCm39) |
I30994T |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,614,320 (GRCm39) |
F8737L |
probably damaging |
Het |
| Ush1c |
G |
T |
7: 45,845,152 (GRCm39) |
F890L |
probably benign |
Het |
| Usp36 |
C |
T |
11: 118,162,957 (GRCm39) |
|
probably null |
Het |
| Vmn2r115 |
T |
C |
17: 23,566,795 (GRCm39) |
Y436H |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,477,635 (GRCm39) |
M259L |
probably benign |
Het |
| Wwp1 |
T |
C |
4: 19,659,698 (GRCm39) |
T197A |
probably benign |
Het |
| Zbtb37 |
T |
A |
1: 160,847,814 (GRCm39) |
M398L |
probably benign |
Het |
| Zfp804b |
C |
T |
5: 6,819,673 (GRCm39) |
C1130Y |
probably benign |
Het |
| Zfp9 |
A |
G |
6: 118,441,712 (GRCm39) |
C317R |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,480,334 (GRCm39) |
H719R |
probably damaging |
Het |
|
| Other mutations in Smpd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00944:Smpd4
|
APN |
16 |
17,460,621 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01461:Smpd4
|
APN |
16 |
17,439,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02051:Smpd4
|
APN |
16 |
17,444,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02492:Smpd4
|
APN |
16 |
17,457,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03181:Smpd4
|
APN |
16 |
17,443,671 (GRCm39) |
nonsense |
probably null |
|
|
Victim
|
UTSW |
16 |
17,458,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
weakling
|
UTSW |
16 |
17,456,350 (GRCm39) |
intron |
probably benign |
|
|
G1citation:Smpd4
|
UTSW |
16 |
17,458,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0197:Smpd4
|
UTSW |
16 |
17,459,461 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0549:Smpd4
|
UTSW |
16 |
17,457,176 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0789:Smpd4
|
UTSW |
16 |
17,443,690 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1077:Smpd4
|
UTSW |
16 |
17,441,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1120:Smpd4
|
UTSW |
16 |
17,456,350 (GRCm39) |
intron |
probably benign |
|
|
R1758:Smpd4
|
UTSW |
16 |
17,458,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1758:Smpd4
|
UTSW |
16 |
17,443,872 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1838:Smpd4
|
UTSW |
16 |
17,460,166 (GRCm39) |
splice site |
probably null |
|
|
R2115:Smpd4
|
UTSW |
16 |
17,444,729 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2849:Smpd4
|
UTSW |
16 |
17,460,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4654:Smpd4
|
UTSW |
16 |
17,459,992 (GRCm39) |
intron |
probably benign |
|
|
R6157:Smpd4
|
UTSW |
16 |
17,458,930 (GRCm39) |
splice site |
probably null |
|
|
R6190:Smpd4
|
UTSW |
16 |
17,449,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6822:Smpd4
|
UTSW |
16 |
17,458,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7062:Smpd4
|
UTSW |
16 |
17,458,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7305:Smpd4
|
UTSW |
16 |
17,459,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7759:Smpd4
|
UTSW |
16 |
17,456,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7853:Smpd4
|
UTSW |
16 |
17,460,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8187:Smpd4
|
UTSW |
16 |
17,446,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Smpd4
|
UTSW |
16 |
17,457,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8518:Smpd4
|
UTSW |
16 |
17,458,884 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8735:Smpd4
|
UTSW |
16 |
17,453,410 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9075:Smpd4
|
UTSW |
16 |
17,457,849 (GRCm39) |
missense |
unknown |
|
|
R9439:Smpd4
|
UTSW |
16 |
17,459,451 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Smpd4
|
UTSW |
16 |
17,437,450 (GRCm39) |
intron |
probably benign |
|
|
Z1177:Smpd4
|
UTSW |
16 |
17,439,305 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCTAGACATAGCTTCCAGAGAG -3'
(R):5'- GCTTCTAAGCAACCTGCCACAGTC -3'
Sequencing Primer
(F):5'- TGAGAATCACTTGGTCCCAGAG -3'
(R):5'- CTATGGCATAGAGGACGTATCC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation