Mutagenetix > Incidental Mutation

Incidental Mutation 'R0605:Nsmaf'

55636

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

038794-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R0605 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

6396207-6454271 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 6418470 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029910 (fasta)

Gene Model

predicted gene model for transcript(s): [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

noncoding transcript
Transcript: ENSMUST00000143566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156715

Meta Mutation Damage Score

0.9580

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

100% (85/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	G	A	10: 20,311,227		probably benign	Het
Adam28	A	T	14: 68,606,600		probably benign	Het
Adamts3	A	G	5: 89,861,475	W110R	possibly damaging	Het
Add1	T	C	5: 34,614,224	V342A	possibly damaging	Het
Aff3	A	G	1: 38,209,987	S680P	probably damaging	Het
Ak9	T	C	10: 41,345,139	Y322H	probably damaging	Het
Als2	A	G	1: 59,168,414	L1528S	probably benign	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Atp6v1a	A	C	16: 44,111,496		probably null	Het
Bpi	T	C	2: 158,261,394	L103P	probably damaging	Het
Cd80	G	A	16: 38,482,694	V168I	probably benign	Het
Cfh	T	C	1: 140,102,358	S926G	probably damaging	Het
Chrd	A	T	16: 20,735,439	T304S	probably damaging	Het
Chsy3	A	G	18: 59,409,053	Y421C	probably damaging	Het
Cmbl	T	G	15: 31,585,309	V101G	probably damaging	Het
Colgalt2	T	A	1: 152,495,792		probably benign	Het
Coq4	C	T	2: 29,789,998	Q101*	probably null	Het
Cr2	T	C	1: 195,163,596		probably benign	Het
Cry1	T	C	10: 85,184,359	D38G	probably damaging	Het
Dmxl2	T	C	9: 54,419,945	D758G	probably benign	Het
Epsti1	C	T	14: 77,927,237		probably benign	Het
Fam24b	T	C	7: 131,327,186		probably benign	Het
Fem1c	G	A	18: 46,505,160	R592C	probably benign	Het
Foxred1	T	C	9: 35,204,882	Y490C	possibly damaging	Het
Gm14124	A	G	2: 150,268,603	I404M	unknown	Het
Gm9875	A	G	2: 13,557,888	K9R	unknown	Het
Grid2ip	T	C	5: 143,379,362	S322P	probably damaging	Het
Gucy1b2	A	G	14: 62,403,159		probably benign	Het
Hmcn1	A	T	1: 150,657,376		probably null	Het
Hpdl	C	T	4: 116,820,787	S159N	possibly damaging	Het
Hsd17b12	A	T	2: 94,033,642	M285K	probably benign	Het
Icam5	T	C	9: 21,032,197	I23T	probably benign	Het
Kat5	A	G	19: 5,608,336		probably benign	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lamb2	T	C	9: 108,486,105		probably benign	Het
Lgals3bp	A	G	11: 118,393,394	F453S	probably damaging	Het
Lypd4	A	G	7: 24,865,375	Y113H	probably damaging	Het
Mdm1	C	T	10: 118,146,601	T47M	probably damaging	Het
Mei1	C	A	15: 82,070,150	T52K	probably benign	Het
Meiob	G	A	17: 24,818,262		probably benign	Het
Ndufaf6	A	G	4: 11,051,224	V292A	probably damaging	Het
Neb	T	A	2: 52,264,026	M2358L	possibly damaging	Het
Nlrp1b	A	G	11: 71,156,179	S1119P	possibly damaging	Het
Ogfod1	T	C	8: 94,047,267		probably benign	Het
Olfr1097	T	C	2: 86,890,419	Y252C	possibly damaging	Het
Olfr1410	G	T	1: 92,607,896	V20L	probably benign	Het
Olfr291	T	C	7: 84,857,137	I256T	probably damaging	Het
Osbpl1a	T	A	18: 12,882,279		probably null	Het
Otud7b	T	A	3: 96,144,959		probably benign	Het
P3h3	T	A	6: 124,856,035	H185L	probably damaging	Het
P4htm	G	A	9: 108,583,724	A183V	probably null	Het
Peak1	C	T	9: 56,227,098		probably benign	Het
Phf20l1	A	G	15: 66,595,122	K88R	probably damaging	Het
Phlpp2	A	G	8: 109,933,211	N721S	probably benign	Het
Plagl2	T	C	2: 153,235,944	K39R	probably benign	Het
Plppr1	A	T	4: 49,323,466	N252I	probably damaging	Het
Pom121l2	C	T	13: 21,982,036	A159V	probably damaging	Het
Prom2	C	A	2: 127,539,995		probably null	Het
Prrc2c	T	C	1: 162,682,426	T1017A	probably damaging	Het
Rimbp3	G	T	16: 17,211,699	A996S	probably damaging	Het
Rnf213	A	G	11: 119,431,717	T1387A	probably benign	Het
Scaper	A	T	9: 55,815,518		probably benign	Het
Scara5	A	G	14: 65,759,648	E403G	possibly damaging	Het
Scrib	T	C	15: 76,067,553	I94V	possibly damaging	Het
Shank3	T	C	15: 89,524,147	F67L	possibly damaging	Het
Shprh	T	C	10: 11,207,112	F1562L	probably damaging	Het
Src	C	T	2: 157,469,921	T529M	probably damaging	Het
Sycp2l	T	A	13: 41,143,466	M341K	probably benign	Het
Syde1	T	C	10: 78,589,095		probably benign	Het
Tarsl2	A	T	7: 65,678,071	R509S	probably damaging	Het
Tle6	T	A	10: 81,594,346	H324L	probably damaging	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,046,845		probably benign	Het
Tnfrsf14	T	A	4: 154,925,380	K115*	probably null	Het
Trappc10	T	C	10: 78,201,497	N824S	possibly damaging	Het
Tsc1	C	T	2: 28,671,778	S309F	probably damaging	Het
Ttc21a	A	G	9: 119,961,842	I885V	possibly damaging	Het
Ttn	C	T	2: 76,740,453	A26699T	probably damaging	Het
Ttn	T	C	2: 76,948,371	Y1262C	unknown	Het
Usp49	T	C	17: 47,674,926		probably null	Het
Vmn1r226	A	T	17: 20,687,871	T122S	probably benign	Het
Vps8	A	T	16: 21,559,337	T1033S	probably benign	Het
Vwf	C	A	6: 125,685,837	T2728K	probably benign	Het
Wdr5b	T	C	16: 36,041,996	S162P	probably benign	Het
Xrn1	C	T	9: 96,026,877	Q1235*	probably null	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
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
R9745:Nsmaf	UTSW	4	6416662	missense	possibly damaging	0.49
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'- AGGTCCACGTCATCAACCATCTGC -3'
(R):5'- GTGGTCTAGTGAAGTGCCACCAAC -3'

Sequencing Primer
(F):5'- AACCATCTGCCCGCCTTG -3'
(R):5'- AGTTGTGTCCGTGAGAAAGC -3'

Posted On

2013-07-11