Mutagenetix > Incidental Mutation

Incidental Mutation 'R0454:Nsmaf'

39848

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

038654-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R0454 (G1)

Quality Score

136

Status

Not validated

Chromosome

Chromosomal Location

6396207-6454271 bp(-) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 6424874 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029910] [ENSMUST00000029910] [ENSMUST00000029910]

AlphaFold

O35242

Predicted Effect

probably null
Transcript: ENSMUST00000029910

SMART Domains

Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245

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 null
Transcript: ENSMUST00000029910

SMART Domains

Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245

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 null
Transcript: ENSMUST00000029910

SMART Domains

Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245

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

noncoding transcript
Transcript: ENSMUST00000143566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156715

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	A	G	5: 118,255,821	E88G	possibly damaging	Het
4930447F04Rik	T	C	X: 66,303,668	E91G	unknown	Het
Acot1	A	G	12: 84,017,339	Q407R	probably benign	Het
Adcy10	T	A	1: 165,570,728	Y1465N	probably damaging	Het
Ahsa2	T	A	11: 23,490,702	I249F	probably damaging	Het
Arhgap10	T	C	8: 77,250,965	N721S	probably damaging	Het
Arrdc4	T	G	7: 68,741,871	E216A	probably damaging	Het
Axin1	T	C	17: 26,173,663	V306A	probably benign	Het
BC005561	T	G	5: 104,518,211	S200A	probably benign	Het
Cct3	T	C	3: 88,302,866		probably null	Het
Cfap58	G	A	19: 47,974,680		probably null	Het
Chd9	T	C	8: 90,973,231	S49P	possibly damaging	Het
Clcn2	C	A	16: 20,710,428		probably null	Het
Col26a1	T	C	5: 136,754,193	N286D	probably benign	Het
Cpt1b	T	A	15: 89,424,393	I111F	possibly damaging	Het
Cyp4f16	T	A	17: 32,537,087	I30N	probably damaging	Het
Ddc	T	G	11: 11,880,587	D19A	possibly damaging	Het
Depdc1a	T	A	3: 159,516,900		probably null	Het
Evc2	T	A	5: 37,417,484	C1028S	possibly damaging	Het
Fam228a	T	C	12: 4,731,457	E134G	probably damaging	Het
Fasl	T	C	1: 161,787,954	E111G	probably benign	Het
Fbxw10	A	G	11: 62,876,738	N800S	possibly damaging	Het
Fras1	T	C	5: 96,762,665	S3318P	probably damaging	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gad1	T	A	2: 70,579,201	M212K	probably damaging	Het
Gm17455	T	G	10: 60,402,973	S6A	probably benign	Het
Grm5	T	C	7: 88,130,789	S1146P	probably damaging	Het
Gsn	T	C	2: 35,304,639	L649P	probably damaging	Het
H2-DMb1	A	G	17: 34,155,711	T112A	probably benign	Het
Hcn3	T	A	3: 89,152,894	I148F	probably damaging	Het
Hdac10	T	C	15: 89,125,758		probably null	Het
Hk3	C	A	13: 55,008,705	D619Y	probably damaging	Het
Ifi44	T	A	3: 151,745,497	R272S	possibly damaging	Het
Il1rap	A	C	16: 26,698,875	D275A	probably damaging	Het
Itgam	A	T	7: 128,107,980	N660I	probably benign	Het
Itpr3	T	C	17: 27,113,819	M1853T	probably benign	Het
Lrmp	A	G	6: 145,167,984	R293G	possibly damaging	Het
Lrrc8c	A	C	5: 105,607,099	K247Q	probably damaging	Het
Map3k21	T	C	8: 125,942,119	S815P	probably benign	Het
Mast4	A	G	13: 102,751,560	S1114P	probably damaging	Het
Myh8	C	T	11: 67,303,765	Q1601*	probably null	Het
Nhlrc2	A	G	19: 56,570,527	D148G	probably damaging	Het
Nos1	T	A	5: 117,943,320	S1196T	probably benign	Het
Obscn	T	C	11: 58,999,623	D7361G	unknown	Het
Olfr1350	C	T	7: 6,570,360	A123V	probably damaging	Het
Olfr600	C	A	7: 103,346,878	A17S	probably benign	Het
Olfr721-ps1	T	C	14: 14,407,777	V183A	probably damaging	Het
Pank3	T	G	11: 35,777,709	M175R	probably benign	Het
Papolg	A	G	11: 23,879,868		probably null	Het
Pcdhb21	G	A	18: 37,514,513	D232N	probably damaging	Het
Pcdhb22	T	C	18: 37,518,872	F131S	probably damaging	Het
Pik3r6	G	A	11: 68,528,782	A140T	possibly damaging	Het
Pinlyp	T	C	7: 24,542,522	T87A	possibly damaging	Het
Pld1	T	C	3: 28,124,575	S873P	probably damaging	Het
Pld5	T	A	1: 176,274,729	Y49F	probably benign	Het
Polq	T	C	16: 37,034,890	V449A	probably damaging	Het
Prkca	A	G	11: 107,978,280	V69A	probably benign	Het
Ptk6	A	G	2: 181,202,282	S75P	possibly damaging	Het
Ptprq	G	A	10: 107,582,530	Q1662*	probably null	Het
Ptprt	C	A	2: 161,553,822	A1144S	probably damaging	Het
Rrm1	T	A	7: 102,466,926	W684R	probably damaging	Het
Ryr1	T	A	7: 29,036,075	M4093L	probably damaging	Het
Scnn1a	C	T	6: 125,322,226	L90F	probably damaging	Het
Slc25a19	G	T	11: 115,617,597	Y188*	probably null	Het
Slc31a1	C	T	4: 62,385,629		probably benign	Het
Slc5a11	C	G	7: 123,265,235	S351R	possibly damaging	Het
Slc6a17	A	G	3: 107,476,867	L387P	probably benign	Het
Slitrk6	A	T	14: 110,749,932	L781H	probably damaging	Het
Spam1	T	A	6: 24,797,838	L331Q	probably damaging	Het
Spata32	A	G	11: 103,209,299	W127R	probably damaging	Het
Spta1	T	G	1: 174,213,942	I1324S	probably damaging	Het
St6galnac4	A	G	2: 32,594,318	Y176C	probably damaging	Het
Stk10	A	G	11: 32,596,724	E327G	probably damaging	Het
Stxbp5l	T	A	16: 37,134,284	Y912F	possibly damaging	Het
Tchp	G	A	5: 114,720,182	E459K	probably benign	Het
Terf2	C	T	8: 107,096,210	W100*	probably null	Het
Thrsp	T	C	7: 97,417,427	N26S	probably damaging	Het
Tln1	C	A	4: 43,553,504	R297L	probably benign	Het
Tmeff2	C	A	1: 50,928,075	T43N	possibly damaging	Het
Tmx1	C	T	12: 70,453,173	A2V	possibly damaging	Het
Tnks1bp1	T	A	2: 85,072,137	L1053Q	probably damaging	Het
Trmt10b	A	T	4: 45,304,286	K107N	probably damaging	Het
Trpa1	A	T	1: 14,885,748		probably null	Het
Trrap	A	G	5: 144,846,477	K3371R	probably damaging	Het
Tuba3b	G	A	6: 145,618,269	V14I	probably benign	Het
Usp19	T	C	9: 108,494,240		probably null	Het
Usp28	C	A	9: 49,039,101	D615E	possibly damaging	Het
Utp20	T	C	10: 88,822,069	D43G	probably benign	Het
Vmn1r58	T	G	7: 5,410,998	K78Q	possibly damaging	Het
Vmn2r10	T	C	5: 109,003,461	M96V	probably benign	Het
Wdr90	T	C	17: 25,860,049	E273G	probably damaging	Het
Xpc	C	T	6: 91,491,226	A860T	probably benign	Het
Zscan21	T	C	5: 138,133,603	I463T	possibly 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
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
R2212:Nsmaf	UTSW	4	6396732	missense	probably damaging	0.99
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
R8737:Nsmaf	UTSW	4	6396748	missense	probably benign	0.15
R8856:Nsmaf	UTSW	4	6433320	nonsense	probably null
R8905:Nsmaf	UTSW	4	6424951	missense	probably benign	0.07
R8963:Nsmaf	UTSW	4	6428471	missense	probably damaging	0.98
R9019:Nsmaf	UTSW	4	6418523	missense	probably damaging	1.00
R9097:Nsmaf	UTSW	4	6416543	frame shift	probably null
R9099:Nsmaf	UTSW	4	6416543	frame shift	probably null
R9288:Nsmaf	UTSW	4	6414976	missense	probably benign	0.01
R9328:Nsmaf	UTSW	4	6426412	missense	probably damaging	1.00
R9378:Nsmaf	UTSW	4	6440940	missense	probably benign	0.00
R9481:Nsmaf	UTSW	4	6414976	missense	probably benign	0.01
R9556:Nsmaf	UTSW	4	6408637	missense	probably benign	0.08
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'- GGCATTCACCTACACAAACATCCTCT -3'
(R):5'- TCCAGGAAAGAAATGTGGGATAATTGGC -3'

Sequencing Primer
(F):5'- GTAACTCACTCAAGTTGGAGGTC -3'
(R):5'- CTCAAGTGTATAGATGCTTACCTGAC -3'

Posted On

2013-05-23