Incidental Mutation 'R8779:Smpd3'
| ID |
670173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smpd3
|
| Ensembl Gene |
ENSMUSG00000031906 |
| Gene Name |
sphingomyelin phosphodiesterase 3, neutral |
| Synonyms |
4631433G07Rik, neutral sphingomyelinase II, nSMase2, fro, Nsm2 |
| MMRRC Submission |
068721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R8779 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106979180-107064597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106992121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 144
(V144A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067512]
[ENSMUST00000212896]
|
| AlphaFold |
Q9JJY3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067512
AA Change: V144A
PolyPhen 2
Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000069255
Gene: ENSMUSG00000031906
AA Change: V144A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
189 |
N/A |
INTRINSIC |
|
Pfam:Exo_endo_phos
|
321 |
639 |
1.2e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212896
AA Change: V144A
PolyPhen 2
Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice exhibit dwarfism, delayed sexual and gonad maturation, delayed ossification of the long bones, and reduced serum levels of thyroxine, triiodothyronine, cortisol, and insulin-like growth factor. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap1 |
C |
A |
5: 139,259,173 (GRCm39) |
C338F |
probably damaging |
Het |
| Ahsa1 |
A |
G |
12: 87,319,973 (GRCm39) |
N256S |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,747,719 (GRCm39) |
I1152V |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,758,751 (GRCm39) |
N149K |
probably damaging |
Het |
| Arid1b |
G |
A |
17: 5,391,809 (GRCm39) |
D1727N |
probably benign |
Het |
| Cntn5 |
A |
T |
9: 10,171,920 (GRCm39) |
F88Y |
probably benign |
Het |
| Cpox |
G |
C |
16: 58,491,229 (GRCm39) |
E147Q |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,660,845 (GRCm39) |
F902S |
probably damaging |
Het |
| Eif3c |
T |
C |
7: 126,162,900 (GRCm39) |
K128E |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,033,898 (GRCm39) |
I2517F |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 58,037,245 (GRCm39) |
N48S |
probably benign |
Het |
| Gcfc2 |
C |
T |
6: 81,925,298 (GRCm39) |
T571I |
probably benign |
Het |
| Gem |
T |
C |
4: 11,711,166 (GRCm39) |
V119A |
possibly damaging |
Het |
| Gm3248 |
A |
T |
14: 5,943,869 (GRCm38) |
N118K |
probably benign |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Igkv14-130 |
T |
A |
6: 67,768,311 (GRCm39) |
W57R |
probably damaging |
Het |
| Irag2 |
A |
G |
6: 145,083,925 (GRCm39) |
E30G |
probably benign |
Het |
| Itch |
T |
A |
2: 155,014,440 (GRCm39) |
D92E |
probably benign |
Het |
| Jakmip1 |
G |
C |
5: 37,386,672 (GRCm39) |
E1428Q |
unknown |
Het |
| Kazn |
T |
C |
4: 141,881,856 (GRCm39) |
E128G |
|
Het |
| Myo3a |
C |
A |
2: 22,250,404 (GRCm39) |
Y90* |
probably null |
Het |
| Npas2 |
A |
C |
1: 39,377,267 (GRCm39) |
D543A |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,397 (GRCm39) |
T137A |
possibly damaging |
Het |
| Or5v1 |
A |
G |
17: 37,809,718 (GRCm39) |
M59V |
probably damaging |
Het |
| Or8g52 |
A |
G |
9: 39,630,636 (GRCm39) |
T38A |
probably damaging |
Het |
| Pcdhgb4 |
G |
T |
18: 37,854,835 (GRCm39) |
R410L |
probably damaging |
Het |
| Rexo1 |
A |
G |
10: 80,384,292 (GRCm39) |
S656P |
probably benign |
Het |
| Rmnd5b |
T |
C |
11: 51,518,459 (GRCm39) |
E139G |
possibly damaging |
Het |
| Scn1a |
C |
T |
2: 66,181,257 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
T |
C |
5: 141,948,457 (GRCm39) |
S601P |
probably benign |
Het |
| Snrk |
T |
C |
9: 121,995,688 (GRCm39) |
I489T |
probably damaging |
Het |
| Thoc1 |
A |
G |
18: 9,993,366 (GRCm39) |
E575G |
probably benign |
Het |
| Usp16 |
A |
G |
16: 87,276,297 (GRCm39) |
D545G |
probably benign |
Het |
| Vmn2r81 |
G |
A |
10: 79,103,218 (GRCm39) |
C137Y |
possibly damaging |
Het |
| Zfp536 |
T |
A |
7: 37,267,692 (GRCm39) |
K575* |
probably null |
Het |
|
| Other mutations in Smpd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03380:Smpd3
|
APN |
8 |
106,986,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB010:Smpd3
|
UTSW |
8 |
106,982,254 (GRCm39) |
missense |
probably benign |
|
|
BB020:Smpd3
|
UTSW |
8 |
106,982,254 (GRCm39) |
missense |
probably benign |
|
|
G1citation:Smpd3
|
UTSW |
8 |
106,992,596 (GRCm39) |
start gained |
probably benign |
|
|
R0240:Smpd3
|
UTSW |
8 |
106,991,788 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0240:Smpd3
|
UTSW |
8 |
106,991,788 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0456:Smpd3
|
UTSW |
8 |
106,986,288 (GRCm39) |
missense |
probably benign |
|
|
R0759:Smpd3
|
UTSW |
8 |
106,991,860 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0799:Smpd3
|
UTSW |
8 |
106,991,421 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1544:Smpd3
|
UTSW |
8 |
106,992,199 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1756:Smpd3
|
UTSW |
8 |
106,991,603 (GRCm39) |
missense |
probably benign |
|
|
R2937:Smpd3
|
UTSW |
8 |
106,991,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2939:Smpd3
|
UTSW |
8 |
106,984,039 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4614:Smpd3
|
UTSW |
8 |
106,986,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5829:Smpd3
|
UTSW |
8 |
106,991,512 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6822:Smpd3
|
UTSW |
8 |
106,992,596 (GRCm39) |
start gained |
probably benign |
|
|
R6891:Smpd3
|
UTSW |
8 |
106,991,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6962:Smpd3
|
UTSW |
8 |
106,991,851 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6965:Smpd3
|
UTSW |
8 |
106,986,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7344:Smpd3
|
UTSW |
8 |
106,991,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7394:Smpd3
|
UTSW |
8 |
106,991,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7823:Smpd3
|
UTSW |
8 |
106,982,254 (GRCm39) |
missense |
probably benign |
|
|
R7825:Smpd3
|
UTSW |
8 |
106,982,254 (GRCm39) |
missense |
probably benign |
|
|
R7933:Smpd3
|
UTSW |
8 |
106,982,254 (GRCm39) |
missense |
probably benign |
|
|
R7974:Smpd3
|
UTSW |
8 |
106,982,254 (GRCm39) |
missense |
probably benign |
|
|
R7975:Smpd3
|
UTSW |
8 |
106,982,254 (GRCm39) |
missense |
probably benign |
|
|
R7976:Smpd3
|
UTSW |
8 |
106,982,254 (GRCm39) |
missense |
probably benign |
|
|
R7977:Smpd3
|
UTSW |
8 |
106,986,526 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7987:Smpd3
|
UTSW |
8 |
106,986,526 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8260:Smpd3
|
UTSW |
8 |
106,984,047 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8264:Smpd3
|
UTSW |
8 |
106,991,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8292:Smpd3
|
UTSW |
8 |
106,991,422 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8432:Smpd3
|
UTSW |
8 |
106,984,309 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8494:Smpd3
|
UTSW |
8 |
106,981,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8787:Smpd3
|
UTSW |
8 |
106,982,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9005:Smpd3
|
UTSW |
8 |
106,984,058 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9008:Smpd3
|
UTSW |
8 |
106,984,058 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9355:Smpd3
|
UTSW |
8 |
106,991,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Smpd3
|
UTSW |
8 |
106,992,119 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9698:Smpd3
|
UTSW |
8 |
106,992,296 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9703:Smpd3
|
UTSW |
8 |
106,991,713 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Smpd3
|
UTSW |
8 |
106,991,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAACAGCTCTGGATCCATCAC -3'
(R):5'- AGTCTACCTGGCTCTGCTTG -3'
Sequencing Primer
(F):5'- GGATCCATCACCACCCTGTG -3'
(R):5'- GCTCTGCTTGTGGCTGCAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation