Incidental Mutation 'R2351:Nsmaf'
ID |
246112 |
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 |
040333-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R2351 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
6396207-6454271 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6437921 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 77
(I77F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120980
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029910]
[ENSMUST00000124344]
|
AlphaFold |
O35242 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029910
AA Change: I77F
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000029910 Gene: ENSMUSG00000028245 AA Change: I77F
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 damaging
Transcript: ENSMUST00000124344
AA Change: I77F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120980 Gene: ENSMUSG00000028245 AA Change: I77F
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
28 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124656
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143566
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143704
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145399
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156283
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156715
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310009B15Rik |
A |
T |
1: 138,779,846 (GRCm39) |
Y135* |
probably null |
Het |
Aadacl4fm1 |
A |
T |
4: 144,255,348 (GRCm39) |
Y256F |
probably damaging |
Het |
Acad10 |
A |
T |
5: 121,767,990 (GRCm39) |
I820K |
probably benign |
Het |
Arl8b |
A |
T |
6: 108,798,484 (GRCm39) |
I178F |
possibly damaging |
Het |
Asap1 |
A |
T |
15: 64,007,653 (GRCm39) |
|
probably null |
Het |
Atp2b2 |
A |
T |
6: 113,766,718 (GRCm39) |
I552N |
possibly damaging |
Het |
C130074G19Rik |
G |
T |
1: 184,615,060 (GRCm39) |
D43E |
probably benign |
Het |
Ccdc162 |
C |
A |
10: 41,431,968 (GRCm39) |
|
probably null |
Het |
Ccdc186 |
T |
G |
19: 56,787,129 (GRCm39) |
K613T |
possibly damaging |
Het |
Cggbp1 |
T |
A |
16: 64,676,046 (GRCm39) |
D37E |
possibly damaging |
Het |
Cntn3 |
A |
T |
6: 102,314,344 (GRCm39) |
N123K |
possibly damaging |
Het |
Col18a1 |
C |
T |
10: 76,948,538 (GRCm39) |
G325S |
probably benign |
Het |
Cwc25 |
G |
T |
11: 97,638,218 (GRCm39) |
T405K |
probably damaging |
Het |
Cyp4a31 |
T |
C |
4: 115,428,510 (GRCm39) |
V370A |
possibly damaging |
Het |
Cyp4f13 |
T |
G |
17: 33,144,570 (GRCm39) |
I309L |
probably benign |
Het |
Dap3 |
A |
T |
3: 88,840,870 (GRCm39) |
|
probably null |
Het |
Dchs1 |
G |
T |
7: 105,403,301 (GRCm39) |
D3080E |
probably benign |
Het |
Ern2 |
A |
G |
7: 121,770,731 (GRCm39) |
V762A |
probably damaging |
Het |
Fgr |
C |
T |
4: 132,724,548 (GRCm39) |
R255C |
probably damaging |
Het |
Gcm2 |
A |
T |
13: 41,257,094 (GRCm39) |
D218E |
probably benign |
Het |
Gfi1 |
A |
G |
5: 107,869,640 (GRCm39) |
S131P |
probably damaging |
Het |
Grm8 |
A |
T |
6: 28,126,118 (GRCm39) |
C3S |
possibly damaging |
Het |
Gucy2d |
A |
G |
7: 98,113,226 (GRCm39) |
D840G |
probably benign |
Het |
H3f3a |
T |
C |
1: 180,637,723 (GRCm39) |
T81A |
probably benign |
Het |
Igsf23 |
C |
T |
7: 19,678,723 (GRCm39) |
W22* |
probably null |
Het |
Il12rb2 |
G |
A |
6: 67,338,928 (GRCm39) |
Q3* |
probably null |
Het |
Ino80d |
A |
T |
1: 63,124,994 (GRCm39) |
L156H |
probably benign |
Het |
Kdm2a |
G |
A |
19: 4,379,154 (GRCm39) |
P554S |
probably benign |
Het |
Lefty1 |
T |
A |
1: 180,764,807 (GRCm39) |
L244H |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,750,010 (GRCm39) |
S4398T |
probably benign |
Het |
Myh10 |
A |
G |
11: 68,683,965 (GRCm39) |
D1126G |
probably damaging |
Het |
Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
Myom1 |
A |
T |
17: 71,341,574 (GRCm39) |
D111V |
probably damaging |
Het |
Naip6 |
T |
A |
13: 100,420,169 (GRCm39) |
D1367V |
probably damaging |
Het |
Nbeal1 |
A |
T |
1: 60,276,257 (GRCm39) |
H666L |
possibly damaging |
Het |
Nvl |
T |
C |
1: 180,958,357 (GRCm39) |
T231A |
probably benign |
Het |
Obscn |
T |
C |
11: 59,003,438 (GRCm39) |
R1287G |
probably damaging |
Het |
Opn3 |
T |
C |
1: 175,520,077 (GRCm39) |
D9G |
probably benign |
Het |
Or4a81 |
T |
C |
2: 89,619,522 (GRCm39) |
Y58C |
probably damaging |
Het |
Or4c114 |
C |
T |
2: 88,904,743 (GRCm39) |
G231S |
possibly damaging |
Het |
Or6a2 |
A |
T |
7: 106,600,883 (GRCm39) |
Y61* |
probably null |
Het |
Or6c8b |
A |
G |
10: 128,882,797 (GRCm39) |
V45A |
probably benign |
Het |
Or6k2 |
T |
A |
1: 173,986,486 (GRCm39) |
V49D |
probably damaging |
Het |
Or8k24 |
C |
T |
2: 86,216,471 (GRCm39) |
C97Y |
probably damaging |
Het |
Parp10 |
A |
T |
15: 76,127,056 (GRCm39) |
S101R |
probably benign |
Het |
Pdhx |
T |
A |
2: 102,854,562 (GRCm39) |
K399* |
probably null |
Het |
Pdia4 |
A |
T |
6: 47,773,848 (GRCm39) |
|
probably null |
Het |
Pla2g4f |
T |
C |
2: 120,130,923 (GRCm39) |
D844G |
probably benign |
Het |
Prtg |
C |
A |
9: 72,764,106 (GRCm39) |
D526E |
probably damaging |
Het |
Rassf6 |
T |
C |
5: 90,779,418 (GRCm39) |
D5G |
probably benign |
Het |
Riok3 |
C |
T |
18: 12,282,724 (GRCm39) |
Q388* |
probably null |
Het |
Robo4 |
T |
A |
9: 37,322,956 (GRCm39) |
F825L |
probably benign |
Het |
Rpl13a-ps1 |
C |
T |
19: 50,018,868 (GRCm39) |
E103K |
probably benign |
Het |
Rpl18a |
A |
T |
8: 71,348,864 (GRCm39) |
H37Q |
probably benign |
Het |
Ryr1 |
A |
T |
7: 28,774,718 (GRCm39) |
S2301T |
probably benign |
Het |
Slc39a9 |
T |
A |
12: 80,691,660 (GRCm39) |
D2E |
possibly damaging |
Het |
Slco5a1 |
C |
T |
1: 13,060,158 (GRCm39) |
V188I |
probably benign |
Het |
Son |
T |
A |
16: 91,454,547 (GRCm39) |
M1098K |
probably damaging |
Het |
Spag9 |
A |
G |
11: 93,983,726 (GRCm39) |
D701G |
probably damaging |
Het |
Ssmem1 |
T |
C |
6: 30,512,495 (GRCm39) |
F46S |
possibly damaging |
Het |
Sspo |
C |
T |
6: 48,441,803 (GRCm39) |
R1938W |
probably damaging |
Het |
Sstr3 |
T |
C |
15: 78,424,121 (GRCm39) |
I209V |
probably benign |
Het |
Tlk2 |
A |
G |
11: 105,100,656 (GRCm39) |
Y87C |
probably damaging |
Het |
Traf4 |
G |
A |
11: 78,051,002 (GRCm39) |
R385W |
probably damaging |
Het |
Triobp |
G |
A |
15: 78,888,780 (GRCm39) |
V1962M |
probably benign |
Het |
Tspan12 |
T |
G |
6: 21,835,506 (GRCm39) |
I56L |
probably benign |
Het |
Upp2 |
T |
A |
2: 58,653,674 (GRCm39) |
|
probably null |
Het |
Vps13b |
T |
C |
15: 35,869,457 (GRCm39) |
W2654R |
probably damaging |
Het |
Zc3h18 |
C |
T |
8: 123,129,926 (GRCm39) |
R435* |
probably null |
Het |
Zfta |
T |
C |
19: 7,399,609 (GRCm39) |
I247T |
probably 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 |
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 |
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'- GCTTTCTTACCTGACTGAAAATGAGTG -3'
(R):5'- CTGGCTCCAGGAAAATCAGAGG -3'
Sequencing Primer
(F):5'- GAGTGAAATACCCCATGATTTTGCCC -3'
(R):5'- CTGTCTGTCTGACTGACT -3'
|
Posted On |
2014-10-30 |