Mutagenetix > Incidental Mutation

Incidental Mutation 'R9099:Nsmaf'

691529

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R9099 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

6396207-6454271 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAAACTTTTAAACTT to CAAACTT at 6416543 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 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

94% (61/65)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,871,708 (GRCm39)	M90K	probably damaging	Het
Actn2	T	C	13: 12,303,516 (GRCm39)	D428G	probably damaging	Het
Arrb1	T	C	7: 99,243,836 (GRCm39)	V262A	probably damaging	Het
Bok	A	G	1: 93,622,661 (GRCm39)	I102V		Het
C87436	T	A	6: 86,439,567 (GRCm39)	F419L	probably damaging	Het
Capn15	A	G	17: 26,192,141 (GRCm39)	C34R	probably benign	Het
Ccdc8	T	A	7: 16,728,800 (GRCm39)	Y96*	probably null	Het
Cd274	T	A	19: 29,357,771 (GRCm39)	C154*	probably null	Het
Cfap251	A	G	5: 123,418,082 (GRCm39)		probably benign	Het
Ckap4	A	T	10: 84,369,402 (GRCm39)	L110Q	probably damaging	Het
Col26a1	A	T	5: 136,777,202 (GRCm39)	D335E	probably benign	Het
Crybg1	C	T	10: 43,874,844 (GRCm39)	V755I	probably benign	Het
Dhx38	A	T	8: 110,282,783 (GRCm39)	Y628N	probably damaging	Het
Dnah12	A	T	14: 26,492,325 (GRCm39)	K1155M	probably benign	Het
Ei24	A	G	9: 36,697,270 (GRCm39)	F153L	probably damaging	Het
Erg	T	A	16: 95,178,188 (GRCm39)	E246D	probably benign	Het
Exoc6b	T	C	6: 84,982,000 (GRCm39)	N99D	possibly damaging	Het
Fam222b	G	T	11: 78,046,020 (GRCm39)	R527L	probably damaging	Het
Fam83h	T	C	15: 75,875,135 (GRCm39)	Y734C	probably damaging	Het
Fbxo43	T	C	15: 36,162,619 (GRCm39)	E196G	possibly damaging	Het
Gata5	G	A	2: 179,976,131 (GRCm39)	P11L	possibly damaging	Het
Gbp3	A	T	3: 142,271,048 (GRCm39)	S151C	probably benign	Het
Gli3	T	C	13: 15,901,320 (GRCm39)	L1569P	probably damaging	Het
Helz	G	A	11: 107,523,041 (GRCm39)	V742M	probably damaging	Het
Ifi27l2b	A	T	12: 103,418,114 (GRCm39)	N175K	unknown	Het
Itga1	A	T	13: 115,185,856 (GRCm39)	Y49N	probably damaging	Het
Kcnk2	T	C	1: 188,991,072 (GRCm39)	T167A	probably damaging	Het
Kirrel2	T	A	7: 30,147,642 (GRCm39)	T669S	probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lrit2	A	T	14: 36,790,812 (GRCm39)	T164S	possibly damaging	Het
Lrriq1	A	G	10: 103,051,864 (GRCm39)	V296A	probably damaging	Het
Malsu1	C	T	6: 49,050,731 (GRCm39)		probably benign	Het
Moxd1	G	A	10: 24,155,762 (GRCm39)	V289I	probably damaging	Het
Nfs1	C	T	2: 155,968,934 (GRCm39)	G380E	probably damaging	Het
Nol4l	C	A	2: 153,312,630 (GRCm39)	R226L	probably damaging	Het
Nup98	T	A	7: 101,844,173 (GRCm39)	N54I	probably damaging	Het
Or7g21	C	T	9: 19,032,890 (GRCm39)	P210L	probably benign	Het
Or8g22	A	T	9: 38,958,026 (GRCm39)	C230S	probably benign	Het
Or8g53	A	G	9: 39,683,514 (GRCm39)	I194T		Het
Otoa	T	A	7: 120,739,055 (GRCm39)	F755I	probably benign	Het
P4htm	A	T	9: 108,460,911 (GRCm39)	M187K	probably benign	Het
Phldb3	C	T	7: 24,323,727 (GRCm39)	R453C	probably benign	Het
Pkd1l1	C	T	11: 8,922,986 (GRCm39)	A94T		Het
Pkp1	A	G	1: 135,805,429 (GRCm39)	F669S	probably benign	Het
Prl8a2	C	G	13: 27,536,793 (GRCm39)	Y138*	probably null	Het
Prl8a2	T	A	13: 27,536,794 (GRCm39)	Y139N	probably benign	Het
Rtn4r	T	A	16: 17,969,068 (GRCm39)	N165K	probably benign	Het
Scaper	G	T	9: 55,669,616 (GRCm39)	D353E	probably damaging	Het
Scn4a	G	T	11: 106,211,000 (GRCm39)	D1672E	probably damaging	Het
She	A	G	3: 89,739,078 (GRCm39)	S90G	probably benign	Het
Shmt2	A	T	10: 127,355,962 (GRCm39)	D130E	possibly damaging	Het
Slc2a12	T	A	10: 22,569,923 (GRCm39)	I538K	possibly damaging	Het
Snx29	T	A	16: 11,478,435 (GRCm39)	W322R	probably damaging	Het
Spp1	A	G	5: 104,588,387 (GRCm39)	D263G	probably benign	Het
Srek1ip1	T	C	13: 104,973,964 (GRCm39)	S124P	possibly damaging	Het
Tcp10b	C	T	17: 13,280,656 (GRCm39)		probably benign	Het
Thap12	T	C	7: 98,364,600 (GRCm39)	F256S	probably damaging	Het
Tpte	T	C	8: 22,845,497 (GRCm39)	Y516H		Het
Trem1	C	A	17: 48,544,271 (GRCm39)	Q99K	possibly damaging	Het
Umodl1	C	T	17: 31,178,147 (GRCm39)	P41L	probably benign	Het
Upp2	T	C	2: 58,457,542 (GRCm39)		probably null	Het
Zfand1	A	T	3: 10,406,148 (GRCm39)	M181K	probably damaging	Het
Zfp292	T	C	4: 34,809,228 (GRCm39)	E1277G	possibly damaging	Het
Zfp458	G	T	13: 67,405,696 (GRCm39)	P248T	probably damaging	Het
Zfp667	T	A	7: 6,308,322 (GRCm39)	M330K	probably benign	Het
Zfp827	A	G	8: 79,917,107 (GRCm39)	T561A		Het
Zfp947	C	T	17: 22,364,855 (GRCm39)	G273D	probably benign	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
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
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'- CAAAGGCAGACATCTCTGAGC -3'
(R):5'- AAGTTTAGTCCTTGCCTATAGTGG -3'

Sequencing Primer
(F):5'- GCAACTCAGGAGTCCATGTTTAATC -3'
(R):5'- GATCTGCATTGTTTGGACCTGAACC -3'

Posted On

2021-12-30