Mutagenetix > Incidental Mutations

Incidental Mutation 'R2212:Nsmaf'

239435

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

040214-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R2212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6396207-6454271 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6396732 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 918 (L918F)

Ref Sequence

ENSEMBL: ENSMUSP00000029910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029910] [ENSMUST00000029912] [ENSMUST00000103008] [ENSMUST00000108374] [ENSMUST00000153861] [ENSMUST00000175769]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029910
AA Change: L918F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245
AA Change: L918F

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

noncoding transcript
Transcript: ENSMUST00000143704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149015

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

noncoding transcript
Transcript: ENSMUST00000156715

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: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,470,920	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,661,602	Q802L	probably benign	Het
Adarb2	T	C	13: 8,752,618	F643S	probably damaging	Het
Angptl4	A	G	17: 33,775,418	I401T	probably damaging	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,487,063	E376V	possibly damaging	Het
Deup1	A	T	9: 15,599,843	D213E	probably benign	Het
Ehmt2	A	G	17: 34,899,365	S39G	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fam92a	A	G	4: 12,171,696		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652		probably benign	Het
Fscn2	G	T	11: 120,361,591		probably benign	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
H2-M11	G	A	17: 36,548,930	V272M	probably damaging	Het
Hace1	T	A	10: 45,648,675	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,491,067	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Kcnq3	A	T	15: 66,020,293	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,530,800	Y775C	probably damaging	Het
Krt84	A	C	15: 101,532,538	V73G	probably benign	Het
Lcp2	A	C	11: 34,070,995	D117A	probably benign	Het
Lemd1	C	A	1: 132,228,286	T22K	probably benign	Het
Mdm4	T	C	1: 132,994,522	D294G	probably damaging	Het
Mep1a	G	A	17: 43,477,263	A634V	probably benign	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Olfr1396	C	T	11: 49,113,216	C170Y	probably damaging	Het
Olfr561	T	C	7: 102,774,755	L77P	possibly damaging	Het
Olfr635	T	C	7: 103,979,402	L76P	probably damaging	Het
Olfr963	T	A	9: 39,669,228	M57K	probably damaging	Het
Pfkfb2	A	T	1: 130,707,532	N97K	probably damaging	Het
Phlda1	A	T	10: 111,507,168	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppargc1b	G	A	18: 61,311,220	Q291*	probably null	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Ppp1r3b	A	G	8: 35,384,225	T73A	possibly damaging	Het
Prss43	G	C	9: 110,829,464	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,314,726	D53N	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Spata13	A	G	14: 60,706,723	T522A	probably benign	Het
Spryd3	A	G	15: 102,130,276		probably null	Het
Sry	T	A	Y: 2,663,339	N107I	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syt1	G	T	10: 108,504,414	P348T	possibly damaging	Het
Taok2	T	C	7: 126,870,858	I933V	possibly damaging	Het
Tex9	C	A	9: 72,477,758	Q265H	possibly damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trim59	T	C	3: 69,037,543	T155A	probably benign	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,218,034	Q208H	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Vmn2r110	A	T	17: 20,573,947		probably null	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	Het

Other mutations in Nsmaf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00697:Nsmaf	APN	4	6417163	critical splice donor site	probably null
IGL00778:Nsmaf	APN	4	6435056	critical splice donor site	probably null
IGL01775:Nsmaf	APN	4	6396791	missense	possibly damaging	0.79
IGL02003:Nsmaf	APN	4	6418522	missense	probably benign	0.02
IGL02039:Nsmaf	APN	4	6424995	splice site	probably benign
IGL02085:Nsmaf	APN	4	6398551	missense	probably benign	0.21
IGL02252:Nsmaf	APN	4	6398378	missense	probably benign	0.00
IGL02655:Nsmaf	APN	4	6424933	missense	possibly damaging	0.94
R0023:Nsmaf	UTSW	4	6408680	missense	probably damaging	0.96
R0454:Nsmaf	UTSW	4	6424874	splice site	probably null
R0538:Nsmaf	UTSW	4	6419930	splice site	probably null
R0605:Nsmaf	UTSW	4	6418470	critical splice donor site	probably null
R1033:Nsmaf	UTSW	4	6438054	missense	probably damaging	1.00
R1472:Nsmaf	UTSW	4	6423448	nonsense	probably null
R1519:Nsmaf	UTSW	4	6438062	missense	probably benign	0.06
R1641:Nsmaf	UTSW	4	6409884	missense	probably benign	0.01
R1668:Nsmaf	UTSW	4	6398880	missense	probably damaging	0.98
R2351:Nsmaf	UTSW	4	6437921	missense	probably damaging	1.00
R3862:Nsmaf	UTSW	4	6435064	missense	probably benign	0.00
R4112:Nsmaf	UTSW	4	6417188	nonsense	probably null
R4644:Nsmaf	UTSW	4	6419940	splice site	probably benign
R4807:Nsmaf	UTSW	4	6398542	splice site	probably null
R4960:Nsmaf	UTSW	4	6423342	missense	probably damaging	1.00
R5556:Nsmaf	UTSW	4	6398621	missense	probably benign	0.00
R5936:Nsmaf	UTSW	4	6421017	intron	probably benign
R7288:Nsmaf	UTSW	4	6416641	missense	probably benign
R7295:Nsmaf	UTSW	4	6438083	missense	probably benign	0.00
R7378:Nsmaf	UTSW	4	6416586	missense	probably benign
R7615:Nsmaf	UTSW	4	6408563	missense	probably damaging	1.00
R7842:Nsmaf	UTSW	4	6435109	critical splice acceptor site	probably null
R7993:Nsmaf	UTSW	4	6398647	missense	probably benign	0.15
X0021:Nsmaf	UTSW	4	6398543	critical splice donor site	probably null
X0063:Nsmaf	UTSW	4	6414962	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCCAGTAGTCTTCAAACTGTTGTC -3'
(R):5'- TAATAGGAGCGCGGGTATGC -3'

Sequencing Primer
(F):5'- GCTTAATGGATGACAACAAATGGCTC -3'
(R):5'- CTGATTACCTCCTATGGCAGGCAG -3'

Posted On

2014-10-15