Incidental Mutation 'R1838:Smpd4'
| ID |
205545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smpd4
|
| Ensembl Gene |
ENSMUSG00000005899 |
| Gene Name |
sphingomyelin phosphodiesterase 4 |
| Synonyms |
4122402O22Rik, neutral membrane (neutral sphingomyelinase-3) |
| MMRRC Submission |
039865-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R1838 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17437218-17462692 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 17460166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006053]
[ENSMUST00000056962]
[ENSMUST00000090159]
[ENSMUST00000163476]
[ENSMUST00000163997]
[ENSMUST00000163997]
[ENSMUST00000165363]
[ENSMUST00000170117]
[ENSMUST00000170273]
[ENSMUST00000170273]
[ENSMUST00000170996]
[ENSMUST00000170996]
[ENSMUST00000182117]
[ENSMUST00000182344]
[ENSMUST00000182368]
[ENSMUST00000232116]
[ENSMUST00000231627]
[ENSMUST00000232271]
[ENSMUST00000231722]
[ENSMUST00000232021]
[ENSMUST00000231436]
[ENSMUST00000231792]
|
| AlphaFold |
Q6ZPR5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000006053
|
| SMART Domains |
Protein: ENSMUSP00000006053
Gene: ENSMUSG00000005899
| 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 null
Transcript: ENSMUST00000090159
|
| SMART Domains |
Protein: ENSMUSP00000087620
Gene: ENSMUSG00000005899
| 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 |
probably null
Transcript: ENSMUST00000163476
|
| SMART Domains |
Protein: ENSMUSP00000131867
Gene: ENSMUSG00000005899
| 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 |
probably null
Transcript: ENSMUST00000163997
|
| SMART Domains |
Protein: ENSMUSP00000128595
Gene: ENSMUSG00000005899
| 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 |
probably null
Transcript: ENSMUST00000163997
|
| SMART Domains |
Protein: ENSMUSP00000128595
Gene: ENSMUSG00000005899
| 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 null
Transcript: ENSMUST00000165363
|
| SMART Domains |
Protein: ENSMUSP00000130720
Gene: ENSMUSG00000005899
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000132279
Gene: ENSMUSG00000005899
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:mit_SMPDase
|
8 |
46 |
2.1e-19 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170273
|
| SMART Domains |
Protein: ENSMUSP00000129957
Gene: ENSMUSG00000005899
| 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 null
Transcript: ENSMUST00000170273
|
| SMART Domains |
Protein: ENSMUSP00000129957
Gene: ENSMUSG00000005899
| 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 null
Transcript: ENSMUST00000170996
|
| SMART Domains |
Protein: ENSMUSP00000129074
Gene: ENSMUSG00000005899
| 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 null
Transcript: ENSMUST00000170996
|
| SMART Domains |
Protein: ENSMUSP00000129074
Gene: ENSMUSG00000005899
| 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 |
noncoding transcript
Transcript: ENSMUST00000170401
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167592
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167362
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000183101
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232116
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232270
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231627
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232271
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231722
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232021
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232185
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231378
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231436
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232468
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183279
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232417
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.4%
|
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
T |
C |
6: 132,603,690 (GRCm39) |
D22G |
unknown |
Het |
| Abca4 |
G |
A |
3: 121,921,954 (GRCm39) |
R1170K |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,876,659 (GRCm39) |
N197S |
possibly damaging |
Het |
| Adamtsl3 |
G |
T |
7: 82,142,581 (GRCm39) |
R267L |
probably damaging |
Het |
| Adgrb2 |
A |
T |
4: 129,904,024 (GRCm39) |
T717S |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,123,351 (GRCm39) |
S1417P |
probably damaging |
Het |
| Afg3l2 |
A |
T |
18: 67,547,242 (GRCm39) |
V561D |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,721,643 (GRCm39) |
Y244* |
probably null |
Het |
| BB014433 |
C |
G |
8: 15,092,629 (GRCm39) |
V75L |
unknown |
Het |
| Btnl6 |
T |
A |
17: 34,734,516 (GRCm39) |
D82V |
probably damaging |
Het |
| Ccdc178 |
A |
G |
18: 22,200,695 (GRCm39) |
Y421H |
probably damaging |
Het |
| Cdc123 |
A |
T |
2: 5,799,702 (GRCm39) |
|
probably null |
Het |
| Cdhr5 |
C |
T |
7: 140,852,516 (GRCm39) |
V367I |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,707,105 (GRCm39) |
H1196R |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,442,340 (GRCm39) |
S2077G |
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,742,032 (GRCm39) |
H2296Y |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 77,822,525 (GRCm39) |
D26G |
probably damaging |
Het |
| Ctr9 |
G |
T |
7: 110,651,510 (GRCm39) |
R910L |
possibly damaging |
Het |
| Cyp2t4 |
G |
T |
7: 26,857,841 (GRCm39) |
R455L |
possibly damaging |
Het |
| Cyp3a13 |
A |
T |
5: 137,909,894 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
T |
C |
15: 73,436,949 (GRCm39) |
S1059P |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,743,415 (GRCm39) |
T1135A |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,155,337 (GRCm39) |
V295A |
probably benign |
Het |
| Dnah7b |
C |
A |
1: 46,316,265 (GRCm39) |
T3126K |
probably damaging |
Het |
| Ehbp1l1 |
C |
T |
19: 5,767,719 (GRCm39) |
E1195K |
probably benign |
Het |
| Exoc6b |
T |
A |
6: 84,830,660 (GRCm39) |
I447L |
probably benign |
Het |
| Glt1d1 |
G |
A |
5: 127,755,193 (GRCm39) |
V202I |
probably benign |
Het |
| Grk1 |
T |
C |
8: 13,466,155 (GRCm39) |
V533A |
possibly damaging |
Het |
| Gsdma3 |
C |
T |
11: 98,520,684 (GRCm39) |
A105V |
probably benign |
Het |
| Gzma |
T |
A |
13: 113,232,518 (GRCm39) |
I131F |
probably damaging |
Het |
| Helq |
A |
T |
5: 100,919,745 (GRCm39) |
L35* |
probably null |
Het |
| Hnrnpll |
T |
C |
17: 80,346,052 (GRCm39) |
N403S |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,526,881 (GRCm39) |
K518E |
probably benign |
Het |
| Ighe |
T |
A |
12: 113,235,470 (GRCm39) |
H258L |
unknown |
Het |
| Il6ra |
T |
C |
3: 89,797,579 (GRCm39) |
D96G |
probably benign |
Het |
| Ints13 |
C |
T |
6: 146,468,109 (GRCm39) |
A129T |
possibly damaging |
Het |
| Ipo7 |
T |
A |
7: 109,641,316 (GRCm39) |
H345Q |
probably damaging |
Het |
| Kcna2 |
A |
T |
3: 107,011,828 (GRCm39) |
E136D |
probably benign |
Het |
| Kif5a |
G |
A |
10: 127,072,684 (GRCm39) |
Q702* |
probably null |
Het |
| Klhdc7a |
G |
T |
4: 139,694,381 (GRCm39) |
P189T |
probably benign |
Het |
| Krtap4-9 |
A |
G |
11: 99,676,222 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
T |
C |
2: 31,815,594 (GRCm39) |
S1097P |
possibly damaging |
Het |
| Ldlrad2 |
A |
T |
4: 137,299,481 (GRCm39) |
N114K |
probably benign |
Het |
| Lrfn1 |
A |
T |
7: 28,159,193 (GRCm39) |
I371L |
probably damaging |
Het |
| Lrwd1 |
A |
G |
5: 136,161,242 (GRCm39) |
V240A |
probably benign |
Het |
| Lypd1 |
A |
T |
1: 125,801,108 (GRCm39) |
|
probably benign |
Het |
| Magi2 |
A |
T |
5: 20,670,825 (GRCm39) |
T163S |
probably damaging |
Het |
| Man2c1 |
A |
G |
9: 57,044,621 (GRCm39) |
N354S |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,732,939 (GRCm39) |
Y514H |
possibly damaging |
Het |
| Med15 |
T |
C |
16: 17,471,426 (GRCm39) |
D577G |
probably benign |
Het |
| Mroh4 |
A |
T |
15: 74,487,962 (GRCm39) |
M320K |
probably benign |
Het |
| Ms4a10 |
T |
A |
19: 10,941,411 (GRCm39) |
D186V |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,210,637 (GRCm39) |
N1725S |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,180,835 (GRCm39) |
R741S |
probably damaging |
Het |
| Naa80 |
G |
A |
9: 107,460,216 (GRCm39) |
R37H |
possibly damaging |
Het |
| Naip6 |
T |
C |
13: 100,452,644 (GRCm39) |
D139G |
probably damaging |
Het |
| Or10s1 |
A |
T |
9: 39,985,605 (GRCm39) |
M5L |
probably benign |
Het |
| Or2p2 |
A |
T |
13: 21,256,595 (GRCm39) |
L292* |
probably null |
Het |
| Or4a79 |
A |
T |
2: 89,552,053 (GRCm39) |
M134K |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,821,137 (GRCm39) |
I13F |
possibly damaging |
Het |
| Pcdhb3 |
A |
G |
18: 37,434,370 (GRCm39) |
D112G |
probably benign |
Het |
| Pdpr |
C |
A |
8: 111,861,366 (GRCm39) |
P787T |
probably damaging |
Het |
| Pgm3 |
C |
T |
9: 86,451,286 (GRCm39) |
V123I |
probably benign |
Het |
| Pms1 |
A |
C |
1: 53,231,257 (GRCm39) |
|
probably null |
Het |
| Prl2b1 |
A |
G |
13: 27,572,549 (GRCm39) |
S14P |
possibly damaging |
Het |
| Prune2 |
T |
A |
19: 17,177,242 (GRCm39) |
W212R |
probably damaging |
Het |
| Rabgef1 |
A |
G |
5: 130,241,862 (GRCm39) |
E422G |
probably benign |
Het |
| Ralyl |
A |
G |
3: 14,208,472 (GRCm39) |
E204G |
probably damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rbpms2 |
TGCCGCCGCC |
TGCCGCCGCCGCC |
9: 65,558,962 (GRCm39) |
|
probably benign |
Het |
| Rit1 |
C |
G |
3: 88,636,477 (GRCm39) |
T127S |
probably damaging |
Het |
| Slc16a7 |
C |
T |
10: 125,067,067 (GRCm39) |
V191M |
probably damaging |
Het |
| Slc34a2 |
A |
T |
5: 53,215,778 (GRCm39) |
H63L |
probably benign |
Het |
| Sp3 |
A |
G |
2: 72,768,520 (GRCm39) |
S748P |
possibly damaging |
Het |
| Spata31d1b |
G |
A |
13: 59,863,671 (GRCm39) |
C273Y |
probably benign |
Het |
| Spata31d1b |
G |
A |
13: 59,865,279 (GRCm39) |
R809K |
probably benign |
Het |
| Tmco5 |
A |
T |
2: 116,711,360 (GRCm39) |
E90V |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,897,884 (GRCm39) |
D844V |
probably damaging |
Het |
| Tpi1 |
T |
C |
6: 124,791,115 (GRCm39) |
T41A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,557,536 (GRCm39) |
I29853V |
probably damaging |
Het |
| Vmn2r26 |
C |
T |
6: 124,001,730 (GRCm39) |
T5I |
probably benign |
Het |
| Wdr95 |
A |
G |
5: 149,522,831 (GRCm39) |
D663G |
probably benign |
Het |
| Zbtb39 |
T |
C |
10: 127,578,569 (GRCm39) |
F381S |
probably damaging |
Het |
| Zfp523 |
T |
A |
17: 28,413,967 (GRCm39) |
I34N |
probably damaging |
Het |
| Zfp646 |
T |
A |
7: 127,478,911 (GRCm39) |
Y363N |
probably damaging |
Het |
| Zfp712 |
A |
C |
13: 67,190,111 (GRCm39) |
C139G |
probably damaging |
Het |
| Zfp958 |
A |
G |
8: 4,678,590 (GRCm39) |
H205R |
probably damaging |
Het |
| Zfp974 |
G |
A |
7: 27,609,781 (GRCm39) |
P648L |
possibly 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 |
|
|
R1716:Smpd4
|
UTSW |
16 |
17,460,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GTTCACGGAAACATTTTGCTTG -3'
(R):5'- ATCTGGCCTGCAAACTAGAG -3'
Sequencing Primer
(F):5'- CGGAAACATTTTGCTTGCATTAATG -3'
(R):5'- GAACAAACAAGGACTCAGCAGTTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation