Incidental Mutation 'R9481:Nsmaf'
| ID |
716228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsmaf
|
| Ensembl Gene |
ENSMUSG00000028245 |
| Gene Name |
neutral sphingomyelinase (N-SMase) activation associated factor |
| Synonyms |
Fan, factor associated with N-SMase activation |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R9481 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
6396207-6454271 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6414976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 630
(K630R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029910]
|
| AlphaFold |
O35242 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029910
AA Change: K630R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245
AA Change: K630R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
28 |
N/A |
INTRINSIC |
|
GRAM
|
176 |
247 |
2.22e-11 |
SMART |
|
Beach
|
302 |
575 |
6.28e-190 |
SMART |
|
WD40
|
622 |
661 |
4.55e-3 |
SMART |
|
WD40
|
664 |
703 |
2.97e0 |
SMART |
|
WD40
|
706 |
743 |
1.47e-6 |
SMART |
|
WD40
|
756 |
794 |
1.7e-2 |
SMART |
|
WD40
|
797 |
836 |
1.02e-5 |
SMART |
|
WD40
|
839 |
875 |
9.55e0 |
SMART |
|
WD40
|
878 |
917 |
1.5e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation show no gross phenotypic abnormalities but display delayed cutaneous barrier repair. In addition, D-galactosamine-sensitized homozygotes are partially resistant to LPS- and TNF-induced lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Acsf2 |
C |
T |
11: 94,464,044 (GRCm39) |
V47M |
probably benign |
Het |
| Ahcyl1 |
A |
T |
3: 107,579,388 (GRCm39) |
C215* |
probably null |
Het |
| Ambn |
G |
T |
5: 88,613,050 (GRCm39) |
|
probably null |
Het |
| Apol9b |
G |
T |
15: 77,619,656 (GRCm39) |
V151L |
probably benign |
Het |
| Arid1b |
A |
G |
17: 5,369,007 (GRCm39) |
Y1070C |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,391,092 (GRCm39) |
L322P |
possibly damaging |
Het |
| Bdnf |
A |
G |
2: 109,553,935 (GRCm39) |
D103G |
possibly damaging |
Het |
| Ccdc9 |
A |
T |
7: 16,016,761 (GRCm39) |
D42E |
probably damaging |
Het |
| Cdh13 |
A |
G |
8: 119,963,676 (GRCm39) |
T419A |
|
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Clasp2 |
A |
T |
9: 113,670,669 (GRCm39) |
R329W |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,470,459 (GRCm39) |
C2495R |
|
Het |
| Cyba |
A |
T |
8: 123,154,394 (GRCm39) |
I43N |
possibly damaging |
Het |
| Cyp2a5 |
A |
C |
7: 26,540,511 (GRCm39) |
T375P |
possibly damaging |
Het |
| Cyp2r1 |
A |
G |
7: 114,152,369 (GRCm39) |
F196S |
probably damaging |
Het |
| Efcab2 |
T |
C |
1: 178,308,887 (GRCm39) |
F130S |
probably damaging |
Het |
| Eml6 |
T |
G |
11: 29,788,641 (GRCm39) |
|
probably null |
Het |
| Fbln5 |
A |
T |
12: 101,734,728 (GRCm39) |
C181* |
probably null |
Het |
| Glyatl3 |
A |
G |
17: 41,221,016 (GRCm39) |
V117A |
probably benign |
Het |
| Gpc6 |
A |
G |
14: 117,163,432 (GRCm39) |
S29G |
probably benign |
Het |
| Hadhb |
T |
G |
5: 30,368,711 (GRCm39) |
S13A |
probably benign |
Het |
| Hook1 |
C |
T |
4: 95,901,505 (GRCm39) |
R488C |
probably damaging |
Het |
| Icam5 |
A |
G |
9: 20,948,877 (GRCm39) |
Y743C |
probably damaging |
Het |
| Il15ra |
T |
C |
2: 11,724,854 (GRCm39) |
V108A |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,152,753 (GRCm39) |
N223S |
probably benign |
Het |
| Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
| Kcnk1 |
T |
C |
8: 126,756,281 (GRCm39) |
C268R |
probably damaging |
Het |
| Kctd19 |
A |
T |
8: 106,120,249 (GRCm39) |
L264M |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,554,860 (GRCm39) |
I1258K |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,497,907 (GRCm39) |
D3949E |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,857,653 (GRCm39) |
E2481K |
possibly damaging |
Het |
| Megf10 |
T |
A |
18: 57,395,090 (GRCm39) |
I484N |
probably benign |
Het |
| Mettl21e |
T |
C |
1: 44,245,857 (GRCm39) |
I130V |
probably benign |
Het |
| Nmnat2 |
C |
A |
1: 152,962,181 (GRCm39) |
N140K |
possibly damaging |
Het |
| Or2t1 |
C |
T |
14: 14,328,756 (GRCm38) |
S215L |
probably benign |
Het |
| Or5w15 |
A |
T |
2: 87,568,576 (GRCm39) |
F31I |
probably benign |
Het |
| Or8b38 |
G |
T |
9: 37,972,707 (GRCm39) |
L30F |
probably benign |
Het |
| Or8g26 |
T |
C |
9: 39,096,172 (GRCm39) |
S230P |
possibly damaging |
Het |
| Pafah1b2 |
G |
A |
9: 45,884,284 (GRCm39) |
Q123* |
probably null |
Het |
| Ptprb |
T |
A |
10: 116,155,353 (GRCm39) |
N415K |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,701,033 (GRCm39) |
D1843E |
probably benign |
Het |
| Rps6ka4 |
T |
A |
19: 6,809,372 (GRCm39) |
R427S |
possibly damaging |
Het |
| Scgb2b24 |
A |
T |
7: 33,436,795 (GRCm39) |
L106I |
probably benign |
Het |
| Skint9 |
A |
T |
4: 112,248,915 (GRCm39) |
M171K |
probably benign |
Het |
| Spata17 |
A |
G |
1: 186,844,756 (GRCm39) |
V281A |
possibly damaging |
Het |
| Spef1 |
A |
T |
2: 131,014,625 (GRCm39) |
V99E |
probably damaging |
Het |
| Srpra |
C |
T |
9: 35,126,015 (GRCm39) |
T431I |
probably damaging |
Het |
| Stk32c |
G |
A |
7: 138,768,173 (GRCm39) |
P36L |
unknown |
Het |
| Taar7d |
T |
C |
10: 23,903,739 (GRCm39) |
I207T |
probably benign |
Het |
| Tle1 |
G |
A |
4: 72,044,504 (GRCm39) |
T501I |
probably damaging |
Het |
| Tmem88b |
A |
T |
4: 155,868,733 (GRCm39) |
W172R |
probably damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vcl |
G |
T |
14: 21,070,726 (GRCm39) |
V771L |
probably benign |
Het |
| Vmn1r200 |
T |
A |
13: 22,579,911 (GRCm39) |
M238K |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,793,621 (GRCm39) |
|
probably benign |
Het |
| Vsig10l |
G |
T |
7: 43,112,795 (GRCm39) |
E18* |
probably null |
Het |
| Wdfy3 |
A |
G |
5: 102,000,478 (GRCm39) |
L2964P |
probably benign |
Het |
| Zfp334 |
G |
A |
2: 165,222,271 (GRCm39) |
R591W |
probably damaging |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
probably benign |
Het |
|
| Other mutations in Nsmaf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00697:Nsmaf
|
APN |
4 |
6,417,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00778:Nsmaf
|
APN |
4 |
6,435,056 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01775:Nsmaf
|
APN |
4 |
6,396,791 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02003:Nsmaf
|
APN |
4 |
6,418,522 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02039:Nsmaf
|
APN |
4 |
6,424,995 (GRCm39) |
splice site |
probably benign |
|
|
IGL02085:Nsmaf
|
APN |
4 |
6,398,551 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02252:Nsmaf
|
APN |
4 |
6,398,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02655:Nsmaf
|
APN |
4 |
6,424,933 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0023:Nsmaf
|
UTSW |
4 |
6,408,680 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0454:Nsmaf
|
UTSW |
4 |
6,424,874 (GRCm39) |
splice site |
probably null |
|
|
R0538:Nsmaf
|
UTSW |
4 |
6,419,930 (GRCm39) |
splice site |
probably null |
|
|
R0605:Nsmaf
|
UTSW |
4 |
6,418,470 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1033:Nsmaf
|
UTSW |
4 |
6,438,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1472:Nsmaf
|
UTSW |
4 |
6,423,448 (GRCm39) |
nonsense |
probably null |
|
|
R1519:Nsmaf
|
UTSW |
4 |
6,438,062 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1641:Nsmaf
|
UTSW |
4 |
6,409,884 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1668:Nsmaf
|
UTSW |
4 |
6,398,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2212:Nsmaf
|
UTSW |
4 |
6,396,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2351:Nsmaf
|
UTSW |
4 |
6,437,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3862:Nsmaf
|
UTSW |
4 |
6,435,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4112:Nsmaf
|
UTSW |
4 |
6,417,188 (GRCm39) |
nonsense |
probably null |
|
|
R4644:Nsmaf
|
UTSW |
4 |
6,419,940 (GRCm39) |
splice site |
probably benign |
|
|
R4807:Nsmaf
|
UTSW |
4 |
6,398,542 (GRCm39) |
splice site |
probably null |
|
|
R4960:Nsmaf
|
UTSW |
4 |
6,423,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5556:Nsmaf
|
UTSW |
4 |
6,398,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5936:Nsmaf
|
UTSW |
4 |
6,421,017 (GRCm39) |
intron |
probably benign |
|
|
R7288:Nsmaf
|
UTSW |
4 |
6,416,641 (GRCm39) |
missense |
probably benign |
|
|
R7295:Nsmaf
|
UTSW |
4 |
6,438,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7378:Nsmaf
|
UTSW |
4 |
6,416,586 (GRCm39) |
missense |
probably benign |
|
|
R7615:Nsmaf
|
UTSW |
4 |
6,408,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7842:Nsmaf
|
UTSW |
4 |
6,435,109 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7993:Nsmaf
|
UTSW |
4 |
6,398,647 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8737:Nsmaf
|
UTSW |
4 |
6,396,748 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8856:Nsmaf
|
UTSW |
4 |
6,433,320 (GRCm39) |
nonsense |
probably null |
|
|
R8905:Nsmaf
|
UTSW |
4 |
6,424,951 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8963:Nsmaf
|
UTSW |
4 |
6,428,471 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9019:Nsmaf
|
UTSW |
4 |
6,418,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9097:Nsmaf
|
UTSW |
4 |
6,416,543 (GRCm39) |
frame shift |
probably null |
|
|
R9099:Nsmaf
|
UTSW |
4 |
6,416,543 (GRCm39) |
frame shift |
probably null |
|
|
R9288:Nsmaf
|
UTSW |
4 |
6,414,976 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9328:Nsmaf
|
UTSW |
4 |
6,426,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Nsmaf
|
UTSW |
4 |
6,440,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9556:Nsmaf
|
UTSW |
4 |
6,408,637 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9745:Nsmaf
|
UTSW |
4 |
6,416,662 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
X0021:Nsmaf
|
UTSW |
4 |
6,398,543 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0063:Nsmaf
|
UTSW |
4 |
6,414,962 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGACAATTTCCCATGTGACTGTC -3'
(R):5'- TGGAGCTCTCAAGGCAATGG -3'
Sequencing Primer
(F):5'- CCCAGCTTTTAAACAGACTAGGTGG -3'
(R):5'- CTCTCAAGGCAATGGTGGATG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation