Mutagenetix > Incidental Mutation

Incidental Mutation 'R5936:Nsmaf'

462243

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

044130-MU

Accession Numbers

Essential gene?

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

Stock #

R5936 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6396207-6454271 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 6421017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029910 (fasta)

Gene Model

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

AlphaFold

O35242

Predicted Effect

probably benign
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: ENSMUST00000156078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156715

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

91% (77/85)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,445,848 (GRCm39)		probably benign	Het
Acnat2	T	C	4: 49,383,362 (GRCm39)	T64A	probably benign	Het
Afap1	A	G	5: 36,131,740 (GRCm39)	N356D	possibly damaging	Het
Ahi1	A	G	10: 20,841,832 (GRCm39)	D301G	probably damaging	Het
Alpk2	G	A	18: 65,483,591 (GRCm39)	T139M	probably damaging	Het
Ankrd46	T	C	15: 36,479,428 (GRCm39)	D221G	probably benign	Het
Ano6	T	A	15: 95,870,482 (GRCm39)	L900H	probably damaging	Het
Asphd2	G	A	5: 112,533,623 (GRCm39)	R343*	probably null	Het
Atosa	T	C	9: 74,916,586 (GRCm39)	L395P	probably benign	Het
Brdt	A	G	5: 107,507,261 (GRCm39)	T554A	probably damaging	Het
Cacna1d	A	G	14: 29,893,271 (GRCm39)	V401A	possibly damaging	Het
Cbs	T	C	17: 31,844,068 (GRCm39)	T188A	probably damaging	Het
Cfap54	T	A	10: 92,798,274 (GRCm39)	T1662S	probably benign	Het
Chka	A	G	19: 3,934,580 (GRCm39)	I205V	probably benign	Het
Chsy1	T	A	7: 65,822,025 (GRCm39)	N753K	possibly damaging	Het
Cpz	A	G	5: 35,659,987 (GRCm39)	S553P	probably benign	Het
Crtac1	A	G	19: 42,312,276 (GRCm39)	Y146H	probably damaging	Het
Csf1r	A	T	18: 61,258,880 (GRCm39)	I700F	probably damaging	Het
Ddx20	C	A	3: 105,587,903 (GRCm39)	E392D	possibly damaging	Het
Dhrs11	G	T	11: 84,716,350 (GRCm39)	Y67*	probably null	Het
Diaph3	G	T	14: 87,009,552 (GRCm39)	Q1076K	possibly damaging	Het
Dop1a	T	A	9: 86,418,565 (GRCm39)	L2037*	probably null	Het
Dst	G	T	1: 34,346,539 (GRCm39)	V5336L	probably damaging	Het
Etv1	C	A	12: 38,885,209 (GRCm39)	H248Q	probably damaging	Het
Fcgbp	T	C	7: 27,786,117 (GRCm39)	V518A	probably damaging	Het
Fchsd2	T	C	7: 100,840,908 (GRCm39)	L139S	probably damaging	Het
Fer	A	T	17: 64,231,058 (GRCm39)	T270S	probably benign	Het
Fgd5	A	G	6: 91,964,892 (GRCm39)	E375G	probably damaging	Het
Firrm	T	G	1: 163,814,581 (GRCm39)	I121L	probably benign	Het
Gabarapl1	T	A	6: 129,515,566 (GRCm39)	I68N	probably benign	Het
Gopc	C	T	10: 52,222,295 (GRCm39)	V30M	probably damaging	Het
Hbp1	T	C	12: 31,987,095 (GRCm39)		probably null	Het
Helz2	A	G	2: 180,872,560 (GRCm39)	V2480A	probably damaging	Het
Igfbp3	T	A	11: 7,159,472 (GRCm39)	Y247F	probably damaging	Het
Kbtbd11	C	A	8: 15,077,534 (GRCm39)	S44R	probably benign	Het
Kcnk10	G	T	12: 98,456,191 (GRCm39)	S213R	probably benign	Het
Kcnq3	T	A	15: 65,871,959 (GRCm39)	D570V	probably damaging	Het
Kif21a	A	G	15: 90,819,850 (GRCm39)	F1594S	possibly damaging	Het
Klf3	A	G	5: 64,980,303 (GRCm39)	D31G	probably damaging	Het
Mapkapk3	T	C	9: 107,166,369 (GRCm39)	K59E	probably damaging	Het
Myo18a	A	G	11: 77,709,039 (GRCm39)	T484A	probably damaging	Het
Nlrp6	T	A	7: 140,502,725 (GRCm39)	L277*	probably null	Het
Nr5a1	G	T	2: 38,591,790 (GRCm39)		probably benign	Het
Or4f58	T	A	2: 111,851,932 (GRCm39)	H89L	probably benign	Het
Orc1	A	G	4: 108,459,180 (GRCm39)	T450A	probably benign	Het
Pacsin1	A	T	17: 27,923,971 (GRCm39)	I122F	probably benign	Het
Pced1b	T	A	15: 97,283,061 (GRCm39)	Y367N	possibly damaging	Het
Pced1b	T	A	15: 97,283,063 (GRCm39)	Y367*	probably null	Het
Pdpk1	A	G	17: 24,312,203 (GRCm39)	F281L	probably damaging	Het
Piwil1	T	C	5: 128,828,142 (GRCm39)	V714A	probably benign	Het
Plcd3	C	T	11: 102,969,173 (GRCm39)	V265M	probably damaging	Het
Ppp1r1c	A	T	2: 79,586,798 (GRCm39)	E48V	possibly damaging	Het
Prl2b1	T	G	13: 27,572,432 (GRCm39)	T53P	probably damaging	Het
Ptch2	T	G	4: 116,965,491 (GRCm39)	F359V	probably benign	Het
R3hdm2	G	A	10: 127,307,681 (GRCm39)	S314N	probably damaging	Het
Rictor	A	T	15: 6,813,642 (GRCm39)	S1043C	probably damaging	Het
Rtn4rl2	A	T	2: 84,710,775 (GRCm39)	L163Q	probably damaging	Het
Sarnp	T	A	10: 128,684,640 (GRCm39)	S129T	probably benign	Het
Scube3	A	T	17: 28,384,461 (GRCm39)	K585M	probably damaging	Het
Sgk3	C	T	1: 9,956,045 (GRCm39)		probably benign	Het
Skint6	C	T	4: 112,953,790 (GRCm39)	S458N	probably benign	Het
Slc25a54	A	G	3: 109,005,954 (GRCm39)	H154R	possibly damaging	Het
Sorbs1	A	C	19: 40,313,216 (GRCm39)	I690S	probably damaging	Het
Sqle	C	A	15: 59,202,678 (GRCm39)	A512D	probably damaging	Het
Tedc2	A	C	17: 24,435,315 (GRCm39)	L358R	probably damaging	Het
Tfr2	A	G	5: 137,585,268 (GRCm39)	S767G	probably benign	Het
Thoc5	A	G	11: 4,854,133 (GRCm39)	E27G	probably damaging	Het
Trappc8	A	T	18: 21,007,745 (GRCm39)	F123L	probably damaging	Het
Ube3d	C	T	9: 86,254,512 (GRCm39)	G323D	probably benign	Het
Unc13c	T	A	9: 73,485,774 (GRCm39)	H1642L	probably damaging	Het
Vmn1r10	A	T	6: 57,091,302 (GRCm39)	H298L	probably benign	Het
Xpo4	A	T	14: 57,880,956 (GRCm39)	Y26N	probably benign	Het
Zer1	A	G	2: 29,997,679 (GRCm39)	L409P	probably damaging	Het
Zfyve28	A	T	5: 34,382,332 (GRCm39)	L256Q	probably damaging	Het
Zgrf1	A	G	3: 127,355,902 (GRCm39)	E376G	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
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
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'- GCAATTTGTCAAACAAGATCTGC -3'
(R):5'- TTACTACGTGTGGATTTATCTCAGG -3'

Sequencing Primer
(F):5'- GTAGGTTATCCTCCCACTT -3'
(R):5'- ATAGAAGTAGGTGTGAGCTTGGC -3'

Posted On

2017-02-28