Mutagenetix > Incidental Mutation

Incidental Mutation 'R1668:Nsmaf'

187344

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

039704-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1668 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6396207-6454271 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6398880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 795 (L795P)

Ref Sequence

ENSEMBL: ENSMUSP00000029910 (fasta)

Gene Model

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

AlphaFold

O35242

Predicted Effect

probably damaging
Transcript: ENSMUST00000029910
AA Change: L795P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245
AA Change: L795P

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

noncoding transcript
Transcript: ENSMUST00000156715

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra2c	T	C	5: 35,437,641 (GRCm39)	S138P	probably damaging	Het
Appl1	A	C	14: 26,645,811 (GRCm39)	S666R	probably damaging	Het
Arhgap45	A	G	10: 79,864,584 (GRCm39)	S879G	possibly damaging	Het
Calcoco2	T	C	11: 95,993,563 (GRCm39)	M140V	probably benign	Het
Cap2	C	A	13: 46,768,799 (GRCm39)	H147N	probably damaging	Het
Chd9	A	T	8: 91,767,814 (GRCm39)	H2437L	probably damaging	Het
Col5a3	A	G	9: 20,682,392 (GRCm39)	I1684T	unknown	Het
Comp	A	T	8: 70,831,607 (GRCm39)		probably null	Het
Cyp2c50	A	T	19: 40,079,499 (GRCm39)	M198L	probably benign	Het
Dnaaf2	A	G	12: 69,243,465 (GRCm39)	V532A	probably benign	Het
Dnah10	A	T	5: 124,842,626 (GRCm39)	Q1358L	probably benign	Het
Dop1b	T	A	16: 93,562,404 (GRCm39)	S832T	probably damaging	Het
Dus3l	T	G	17: 57,073,912 (GRCm39)	F162C	possibly damaging	Het
Epb41l4a	A	G	18: 34,054,962 (GRCm39)	L42P	probably damaging	Het
Ercc5	T	A	1: 44,206,193 (GRCm39)	S369T	probably benign	Het
Fbxl2	C	T	9: 113,818,214 (GRCm39)	V211M	probably benign	Het
Fermt3	A	G	19: 6,996,060 (GRCm39)	V45A	probably damaging	Het
Frs3	C	A	17: 48,014,147 (GRCm39)	P280Q	possibly damaging	Het
Fxn	A	G	19: 24,239,377 (GRCm39)	Y172H	probably damaging	Het
Gabpa	T	C	16: 84,643,069 (GRCm39)	V122A	probably damaging	Het
Gsta4	A	G	9: 78,111,570 (GRCm39)	T66A	probably benign	Het
Hsdl2	C	T	4: 59,612,697 (GRCm39)	T296M	probably damaging	Het
Kank4	T	C	4: 98,667,133 (GRCm39)	N438S	probably damaging	Het
Krt24	A	G	11: 99,175,444 (GRCm39)	I197T	probably benign	Het
Lct	T	C	1: 128,215,459 (GRCm39)		probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mc4r	A	G	18: 66,992,480 (GRCm39)	L211P	probably damaging	Het
Mfsd4b5	T	C	10: 39,849,687 (GRCm39)	T111A	probably damaging	Het
Mgat5b	T	A	11: 116,874,474 (GRCm39)	N635K	probably benign	Het
Mms19	A	T	19: 41,940,995 (GRCm39)	M443K	possibly damaging	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Mroh5	T	C	15: 73,659,754 (GRCm39)	N359S	probably benign	Het
Mroh9	T	C	1: 162,852,161 (GRCm39)	I843V	possibly damaging	Het
Nbeal2	T	C	9: 110,467,961 (GRCm39)	D436G	probably damaging	Het
Nbr1	A	G	11: 101,460,592 (GRCm39)	D502G	probably benign	Het
Ngfr	C	T	11: 95,478,371 (GRCm39)	G5D	probably damaging	Het
Nlrc4	G	A	17: 74,752,901 (GRCm39)	T494M	probably damaging	Het
Notch3	T	A	17: 32,377,563 (GRCm39)	H171L	probably damaging	Het
Nup210	T	C	6: 91,005,787 (GRCm39)	T616A	possibly damaging	Het
Or10d5	C	A	9: 39,861,465 (GRCm39)	V201L	possibly damaging	Het
Or1j18	T	A	2: 36,625,204 (GRCm39)	Y290*	probably null	Het
Or5ak25	T	A	2: 85,269,220 (GRCm39)	Y94F	probably benign	Het
Or5b113	A	C	19: 13,342,234 (GRCm39)	M81L	probably benign	Het
Osbpl5	T	C	7: 143,262,776 (GRCm39)	H192R	probably damaging	Het
Parp2	G	A	14: 51,058,313 (GRCm39)	R486Q	probably benign	Het
Pcgf6	G	A	19: 47,028,544 (GRCm39)	A286V	probably damaging	Het
Pla2r1	T	C	2: 60,258,990 (GRCm39)	T1133A	probably damaging	Het
Plekha2	T	C	8: 25,562,070 (GRCm39)	N48S	probably damaging	Het
Pole	T	G	5: 110,445,235 (GRCm39)	S461A	probably damaging	Het
Ppfibp2	T	C	7: 107,329,099 (GRCm39)	L536P	probably damaging	Het
Prkcz	G	T	4: 155,374,208 (GRCm39)	F69L	probably damaging	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Rab23	A	T	1: 33,773,935 (GRCm39)	K132*	probably null	Het
Rbck1	T	A	2: 152,158,819 (GRCm39)	S488C	probably damaging	Het
Rbl1	T	C	2: 157,001,654 (GRCm39)	Y878C	probably damaging	Het
Rpn2	C	T	2: 157,136,075 (GRCm39)	T161M	possibly damaging	Het
Rufy4	G	A	1: 74,186,837 (GRCm39)	V542I	probably benign	Het
Serpinb3d	A	G	1: 107,008,481 (GRCm39)	V128A	probably benign	Het
Smarca2	A	G	19: 26,624,434 (GRCm39)	I365V	possibly damaging	Het
Spata31f1a	G	T	4: 42,848,424 (GRCm39)	T1244K	probably damaging	Het
Sptb	A	G	12: 76,667,943 (GRCm39)	V718A	probably benign	Het
Susd4	A	G	1: 182,686,128 (GRCm39)	H226R	probably benign	Het
Tmem151b	T	C	17: 45,856,831 (GRCm39)	Y203C	probably damaging	Het
Tmppe	T	C	9: 114,233,968 (GRCm39)	V89A	possibly damaging	Het
Trappc6b	A	T	12: 59,094,907 (GRCm39)		probably null	Het
Ube4b	A	T	4: 149,445,751 (GRCm39)	M433K	probably benign	Het
Vmn1r202	A	T	13: 22,685,540 (GRCm39)	D292E	possibly damaging	Het
Vmn1r22	A	G	6: 57,877,704 (GRCm39)	M91T	probably benign	Het
Vmn1r43	T	C	6: 89,846,683 (GRCm39)	I268V	probably benign	Het
Vmn1r49	T	A	6: 90,049,764 (GRCm39)	R79S	probably benign	Het
Vmn2r14	T	A	5: 109,366,913 (GRCm39)	K436*	probably null	Het
Wdr72	A	G	9: 74,117,444 (GRCm39)	S719G	probably damaging	Het
Zfp526	T	C	7: 24,924,967 (GRCm39)	F409L	probably benign	Het
Zfp804b	A	C	5: 6,821,323 (GRCm39)	L580R	possibly damaging	Het
Zfp977	T	C	7: 42,230,070 (GRCm39)	T152A	probably benign	Het
Zyx	T	A	6: 42,332,966 (GRCm39)	V372E	possibly 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
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'- ATCTGCCAGAAAGACACACATGGAG -3'
(R):5'- CACATTAGCTGTACCAGCACATTGC -3'

Sequencing Primer
(F):5'- AGCTGCTTCAGAAAGTGCC -3'
(R):5'- CTGTACCAGCACATTGCATAGTAG -3'

Posted On

2014-05-09