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: 0.080) question?

Stock #

R0605 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

6396207-6454271 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 6418470 bp (GRCm39)

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: 20,186,973 (GRCm39)		probably benign	Het
Adam28	A	T	14: 68,844,049 (GRCm39)		probably benign	Het
Adamts3	A	G	5: 90,009,334 (GRCm39)	W110R	possibly damaging	Het
Add1	T	C	5: 34,771,568 (GRCm39)	V342A	possibly damaging	Het
Aff3	A	G	1: 38,249,068 (GRCm39)	S680P	probably damaging	Het
Ak9	T	C	10: 41,221,135 (GRCm39)	Y322H	probably damaging	Het
Als2	A	G	1: 59,207,573 (GRCm39)	L1528S	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atp6v1a	A	C	16: 43,931,859 (GRCm39)		probably null	Het
Bpi	T	C	2: 158,103,314 (GRCm39)	L103P	probably damaging	Het
Cd80	G	A	16: 38,303,056 (GRCm39)	V168I	probably benign	Het
Cfh	T	C	1: 140,030,096 (GRCm39)	S926G	probably damaging	Het
Chrd	A	T	16: 20,554,189 (GRCm39)	T304S	probably damaging	Het
Chsy3	A	G	18: 59,542,125 (GRCm39)	Y421C	probably damaging	Het
Cmbl	T	G	15: 31,585,455 (GRCm39)	V101G	probably damaging	Het
Colgalt2	T	A	1: 152,371,543 (GRCm39)		probably benign	Het
Coq4	C	T	2: 29,680,010 (GRCm39)	Q101*	probably null	Het
Cr2	T	C	1: 194,845,904 (GRCm39)		probably benign	Het
Cry1	T	C	10: 85,020,223 (GRCm39)	D38G	probably damaging	Het
Dmxl2	T	C	9: 54,327,229 (GRCm39)	D758G	probably benign	Het
Epsti1	C	T	14: 78,164,677 (GRCm39)		probably benign	Het
Fam24b	T	C	7: 130,928,915 (GRCm39)		probably benign	Het
Fem1c	G	A	18: 46,638,227 (GRCm39)	R592C	probably benign	Het
Foxred1	T	C	9: 35,116,178 (GRCm39)	Y490C	possibly damaging	Het
Gm9875	A	G	2: 13,562,699 (GRCm39)	K9R	unknown	Het
Grid2ip	T	C	5: 143,365,117 (GRCm39)	S322P	probably damaging	Het
Gucy1b2	A	G	14: 62,640,608 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,533,127 (GRCm39)		probably null	Het
Hpdl	C	T	4: 116,677,984 (GRCm39)	S159N	possibly damaging	Het
Hsd17b12	A	T	2: 93,863,987 (GRCm39)	M285K	probably benign	Het
Icam5	T	C	9: 20,943,493 (GRCm39)	I23T	probably benign	Het
Kat5	A	G	19: 5,658,364 (GRCm39)		probably benign	Het
Lama3	A	G	18: 12,640,006 (GRCm39)	N67S	probably benign	Het
Lamb2	T	C	9: 108,363,304 (GRCm39)		probably benign	Het
Lgals3bp	A	G	11: 118,284,220 (GRCm39)	F453S	probably damaging	Het
Lypd4	A	G	7: 24,564,800 (GRCm39)	Y113H	probably damaging	Het
Mdm1	C	T	10: 117,982,506 (GRCm39)	T47M	probably damaging	Het
Mei1	C	A	15: 81,954,351 (GRCm39)	T52K	probably benign	Het
Meiob	G	A	17: 25,037,236 (GRCm39)		probably benign	Het
Ndufaf6	A	G	4: 11,051,224 (GRCm39)	V292A	probably damaging	Het
Neb	T	A	2: 52,154,038 (GRCm39)	M2358L	possibly damaging	Het
Nlrp1b	A	G	11: 71,047,005 (GRCm39)	S1119P	possibly damaging	Het
Ogfod1	T	C	8: 94,773,895 (GRCm39)		probably benign	Het
Or5ae2	T	C	7: 84,506,345 (GRCm39)	I256T	probably damaging	Het
Or8h7	T	C	2: 86,720,763 (GRCm39)	Y252C	possibly damaging	Het
Or9s14	G	T	1: 92,535,618 (GRCm39)	V20L	probably benign	Het
Osbpl1a	T	A	18: 13,015,336 (GRCm39)		probably null	Het
Otud7b	T	A	3: 96,052,270 (GRCm39)		probably benign	Het
P3h3	T	A	6: 124,832,998 (GRCm39)	H185L	probably damaging	Het
P4htm	G	A	9: 108,460,923 (GRCm39)	A183V	probably null	Het
Peak1	C	T	9: 56,134,382 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,466,971 (GRCm39)	K88R	probably damaging	Het
Phlpp2	A	G	8: 110,659,843 (GRCm39)	N721S	probably benign	Het
Plagl2	T	C	2: 153,077,864 (GRCm39)	K39R	probably benign	Het
Plppr1	A	T	4: 49,323,466 (GRCm39)	N252I	probably damaging	Het
Pom121l2	C	T	13: 22,166,206 (GRCm39)	A159V	probably damaging	Het
Prom2	C	A	2: 127,381,915 (GRCm39)		probably null	Het
Prrc2c	T	C	1: 162,509,995 (GRCm39)	T1017A	probably damaging	Het
Rimbp3	G	T	16: 17,029,563 (GRCm39)	A996S	probably damaging	Het
Rnf213	A	G	11: 119,322,543 (GRCm39)	T1387A	probably benign	Het
Scaper	A	T	9: 55,722,802 (GRCm39)		probably benign	Het
Scara5	A	G	14: 65,997,097 (GRCm39)	E403G	possibly damaging	Het
Scrib	T	C	15: 75,939,402 (GRCm39)	I94V	possibly damaging	Het
Shank3	T	C	15: 89,408,350 (GRCm39)	F67L	possibly damaging	Het
Shprh	T	C	10: 11,082,856 (GRCm39)	F1562L	probably damaging	Het
Src	C	T	2: 157,311,841 (GRCm39)	T529M	probably damaging	Het
Sycp2l	T	A	13: 41,296,942 (GRCm39)	M341K	probably benign	Het
Syde1	T	C	10: 78,424,929 (GRCm39)		probably benign	Het
Tars3	A	T	7: 65,327,819 (GRCm39)	R509S	probably damaging	Het
Tle6	T	A	10: 81,430,180 (GRCm39)	H324L	probably damaging	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,179,912 (GRCm39)		probably benign	Het
Tnfrsf14	T	A	4: 155,009,837 (GRCm39)	K115*	probably null	Het
Trappc10	T	C	10: 78,037,331 (GRCm39)	N824S	possibly damaging	Het
Tsc1	C	T	2: 28,561,790 (GRCm39)	S309F	probably damaging	Het
Ttc21a	A	G	9: 119,790,908 (GRCm39)	I885V	possibly damaging	Het
Ttn	C	T	2: 76,570,797 (GRCm39)	A26699T	probably damaging	Het
Ttn	T	C	2: 76,778,715 (GRCm39)	Y1262C	unknown	Het
Usp49	T	C	17: 47,985,851 (GRCm39)		probably null	Het
Vmn1r226	A	T	17: 20,908,133 (GRCm39)	T122S	probably benign	Het
Vps8	A	T	16: 21,378,087 (GRCm39)	T1033S	probably benign	Het
Vwf	C	A	6: 125,662,800 (GRCm39)	T2728K	probably benign	Het
Wdr5b	T	C	16: 35,862,366 (GRCm39)	S162P	probably benign	Het
Xrn1	C	T	9: 95,908,930 (GRCm39)	Q1235*	probably null	Het
Zfp1005	A	G	2: 150,110,523 (GRCm39)	I404M	unknown	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
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
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'- AGGTCCACGTCATCAACCATCTGC -3'
(R):5'- GTGGTCTAGTGAAGTGCCACCAAC -3'

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

Posted On

2013-07-11