Incidental Mutation 'R8737:Nsmaf'
ID |
663077 |
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 |
068584-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R8737 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
6396207-6454271 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6396748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 913
(I913T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029910]
[ENSMUST00000029912]
[ENSMUST00000103008]
[ENSMUST00000108374]
[ENSMUST00000153861]
[ENSMUST00000175769]
|
AlphaFold |
O35242 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029910
AA Change: I913T
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000029910 Gene: ENSMUSG00000028245 AA Change: I913T
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000029912
|
SMART Domains |
Protein: ENSMUSP00000029912 Gene: ENSMUSG00000028249
Domain | Start | End | E-Value | Type |
PDZ
|
124 |
195 |
7.09e-15 |
SMART |
PDZ
|
208 |
274 |
6.04e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103008
|
SMART Domains |
Protein: ENSMUSP00000100073 Gene: ENSMUSG00000028249
Domain | Start | End | E-Value | Type |
PDZ
|
123 |
194 |
7.09e-15 |
SMART |
PDZ
|
207 |
273 |
6.04e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108374
|
SMART Domains |
Protein: ENSMUSP00000104011 Gene: ENSMUSG00000028249
Domain | Start | End | E-Value | Type |
PDZ
|
124 |
195 |
2.84e-14 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153861
|
SMART Domains |
Protein: ENSMUSP00000119838 Gene: ENSMUSG00000028249
Domain | Start | End | E-Value | Type |
PDZ
|
123 |
194 |
7.09e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175769
|
SMART Domains |
Protein: ENSMUSP00000135777 Gene: ENSMUSG00000028249
Domain | Start | End | E-Value | Type |
PDZ
|
124 |
195 |
7.09e-15 |
SMART |
Blast:PDZ
|
208 |
249 |
1e-21 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (67/67) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff3 |
T |
A |
1: 38,308,810 (GRCm39) |
D375V |
probably damaging |
Het |
Agfg1 |
C |
G |
1: 82,871,243 (GRCm39) |
P492A |
probably benign |
Het |
Asb13 |
T |
C |
13: 3,692,089 (GRCm39) |
V23A |
probably damaging |
Het |
Atxn1l |
A |
T |
8: 110,460,230 (GRCm39) |
C11S |
probably damaging |
Het |
Bbs9 |
T |
G |
9: 22,590,244 (GRCm39) |
S661A |
probably benign |
Het |
Btrc |
T |
C |
19: 45,496,198 (GRCm39) |
V211A |
probably damaging |
Het |
Camk1g |
T |
C |
1: 193,030,794 (GRCm39) |
|
probably null |
Het |
Capn11 |
A |
T |
17: 45,943,801 (GRCm39) |
L578I |
probably benign |
Het |
Cd82 |
A |
T |
2: 93,252,239 (GRCm39) |
I124N |
probably damaging |
Het |
Cdkl4 |
G |
T |
17: 80,858,258 (GRCm39) |
H120Q |
probably benign |
Het |
Cftr |
T |
C |
6: 18,319,728 (GRCm39) |
V1393A |
probably damaging |
Het |
Col14a1 |
A |
T |
15: 55,318,706 (GRCm39) |
R1402* |
probably null |
Het |
Col6a3 |
T |
G |
1: 90,727,747 (GRCm39) |
Y1960S |
probably benign |
Het |
Col9a1 |
A |
T |
1: 24,224,127 (GRCm39) |
Y103F |
unknown |
Het |
Cux1 |
A |
G |
5: 136,311,796 (GRCm39) |
V1180A |
probably damaging |
Het |
Cyp17a1 |
A |
T |
19: 46,658,166 (GRCm39) |
C249S |
probably benign |
Het |
Derl1 |
A |
T |
15: 57,755,568 (GRCm39) |
W42R |
probably benign |
Het |
Dhx36 |
C |
A |
3: 62,386,747 (GRCm39) |
M668I |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,044,428 (GRCm39) |
K3228E |
possibly damaging |
Het |
Dst |
C |
T |
1: 34,267,750 (GRCm39) |
A3050V |
probably benign |
Het |
Efr3b |
A |
G |
12: 4,049,594 (GRCm39) |
Y70H |
probably damaging |
Het |
Epb42 |
T |
A |
2: 120,856,324 (GRCm39) |
T407S |
possibly damaging |
Het |
Fads2b |
T |
A |
2: 85,324,387 (GRCm39) |
|
probably benign |
Het |
Fap |
T |
A |
2: 62,342,777 (GRCm39) |
I608L |
probably benign |
Het |
Fblim1 |
A |
G |
4: 141,310,387 (GRCm39) |
Y292H |
probably benign |
Het |
Fmod |
A |
G |
1: 133,968,043 (GRCm39) |
I28V |
probably benign |
Het |
Gad2 |
T |
A |
2: 22,524,985 (GRCm39) |
Y256* |
probably null |
Het |
Gapdh |
G |
A |
6: 125,139,017 (GRCm39) |
A353V |
probably benign |
Het |
Gm5460 |
T |
G |
14: 33,739,149 (GRCm39) |
W44G |
unknown |
Het |
Ino80e |
A |
T |
7: 126,460,974 (GRCm39) |
V91D |
probably benign |
Het |
Iqgap2 |
G |
A |
13: 95,802,258 (GRCm39) |
P896S |
probably damaging |
Het |
Kif26b |
T |
A |
1: 178,692,430 (GRCm39) |
I457N |
probably damaging |
Het |
Klc2 |
T |
A |
19: 5,168,477 (GRCm39) |
|
probably benign |
Het |
Ldlrap1 |
C |
A |
4: 134,495,147 (GRCm39) |
W22L |
probably benign |
Het |
Matn3 |
A |
G |
12: 9,017,665 (GRCm39) |
D439G |
possibly damaging |
Het |
Met |
T |
C |
6: 17,540,510 (GRCm39) |
L812P |
probably benign |
Het |
Mki67 |
A |
T |
7: 135,315,504 (GRCm39) |
I90N |
probably damaging |
Het |
Mptx2 |
A |
C |
1: 173,105,256 (GRCm39) |
S12A |
probably benign |
Het |
Mrgpra9 |
G |
T |
7: 46,885,624 (GRCm39) |
N14K |
probably benign |
Het |
Nbeal2 |
G |
A |
9: 110,456,949 (GRCm39) |
R2350C |
probably damaging |
Het |
Nuggc |
G |
T |
14: 65,882,535 (GRCm39) |
C760F |
probably benign |
Het |
Or10a3m |
T |
A |
7: 108,312,964 (GRCm39) |
F135I |
probably damaging |
Het |
Or1j13 |
T |
A |
2: 36,369,629 (GRCm39) |
N171I |
probably benign |
Het |
Or2y1f |
T |
A |
11: 49,184,965 (GRCm39) |
F272L |
probably damaging |
Het |
Or4c110 |
C |
A |
2: 88,832,351 (GRCm39) |
E94* |
probably null |
Het |
Or51b6 |
A |
G |
7: 103,555,913 (GRCm39) |
N86S |
|
Het |
Pdgfrb |
C |
T |
18: 61,214,073 (GRCm39) |
P953S |
probably damaging |
Het |
Pemt |
T |
G |
11: 59,874,285 (GRCm39) |
I102L |
probably benign |
Het |
Pla2g4c |
G |
T |
7: 13,069,154 (GRCm39) |
M109I |
probably benign |
Het |
Pla2g4d |
T |
A |
2: 120,100,466 (GRCm39) |
Y622F |
probably damaging |
Het |
Pmpca |
T |
A |
2: 26,283,531 (GRCm39) |
V400D |
probably damaging |
Het |
Pnpt1 |
G |
C |
11: 29,104,815 (GRCm39) |
|
probably null |
Het |
Pramel29 |
A |
C |
4: 143,935,192 (GRCm39) |
L183R |
probably damaging |
Het |
Prrc1 |
T |
A |
18: 57,496,408 (GRCm39) |
S120T |
possibly damaging |
Het |
Prrx2 |
T |
G |
2: 30,768,578 (GRCm39) |
V135G |
probably damaging |
Het |
Qrfprl |
A |
G |
6: 65,433,260 (GRCm39) |
K360R |
probably benign |
Het |
Recql4 |
T |
C |
15: 76,593,054 (GRCm39) |
N352S |
probably benign |
Het |
Sftpa1 |
T |
C |
14: 40,856,044 (GRCm39) |
S130P |
probably damaging |
Het |
Slc35e2 |
T |
C |
4: 155,695,042 (GRCm39) |
L136P |
probably benign |
Het |
Tarbp2 |
T |
A |
15: 102,430,202 (GRCm39) |
S155T |
probably benign |
Het |
Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
Tmem116 |
A |
T |
5: 121,620,433 (GRCm39) |
Y146F |
|
Het |
Ttc17 |
C |
T |
2: 94,206,374 (GRCm39) |
|
probably null |
Het |
Vmn2r114 |
G |
A |
17: 23,529,142 (GRCm39) |
T320I |
probably benign |
Het |
Vmn2r69 |
A |
T |
7: 85,055,783 (GRCm39) |
V785D |
probably damaging |
Het |
Vmn2r89 |
T |
A |
14: 51,693,722 (GRCm39) |
N357K |
probably damaging |
Het |
Zfp811 |
A |
T |
17: 33,017,197 (GRCm39) |
L281Q |
possibly damaging |
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 |
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 |
R9481:Nsmaf
|
UTSW |
4 |
6,414,976 (GRCm39) |
missense |
probably benign |
0.01 |
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'- AATGAAGTCACCATGATTTAGGAAG -3'
(R):5'- TCCTTGTAAGTTCTTTGTAGAAGCAAG -3'
Sequencing Primer
(F):5'- GGAAGTTGAAACCACACATTCTTC -3'
(R):5'- GGCCCATTGGTCTTGAAAAC -3'
|
Posted On |
2021-03-08 |