Mutagenetix > Incidental Mutation

Incidental Mutation 'R8905:Nsmaf'

680013

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

068762-MU

Accession Numbers

Essential gene?

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

Stock #

R8905 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6396207-6454271 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6424951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 266 (S266P)

Ref Sequence

ENSEMBL: ENSMUSP00000029910 (fasta)

Gene Model

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

AlphaFold

O35242

Predicted Effect

probably benign
Transcript: ENSMUST00000029910
AA Change: S266P

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245
AA Change: S266P

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: 99.5%
20x: 98.3%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	C	4: 137,182,553 (GRCm39)	V236A	probably benign	Het
Abca15	A	T	7: 119,960,771 (GRCm39)	R744S	probably benign	Het
Adgra1	T	C	7: 139,455,763 (GRCm39)	S464P	probably damaging	Het
Arhgap45	T	C	10: 79,855,570 (GRCm39)	V3A	probably benign	Het
AW554918	T	A	18: 25,473,206 (GRCm39)	S134T	probably damaging	Het
Bmper	A	G	9: 23,318,082 (GRCm39)	E567G	probably benign	Het
C2cd3	T	C	7: 100,074,132 (GRCm39)		probably null	Het
Cars1	A	G	7: 143,140,196 (GRCm39)	Y170H	probably damaging	Het
Celsr1	A	T	15: 85,788,269 (GRCm39)		probably benign	Het
Celsr3	C	T	9: 108,718,501 (GRCm39)	H2351Y	probably damaging	Het
Cfap210	A	G	2: 69,612,104 (GRCm39)	S175P	probably benign	Het
Clxn	A	G	16: 14,738,275 (GRCm39)	I147V	possibly damaging	Het
Cyp2d11	T	C	15: 82,275,102 (GRCm39)	I282V	probably benign	Het
Dhfr	A	G	13: 92,494,467 (GRCm39)	T57A	probably damaging	Het
Dhrs7l	T	A	12: 72,666,431 (GRCm39)	D80V	probably damaging	Het
Dnah7b	A	C	1: 46,292,534 (GRCm39)	Q2973P	probably damaging	Het
Dnajc5b	T	C	3: 19,633,184 (GRCm39)	C136R	probably benign	Het
Ercc3	T	G	18: 32,398,771 (GRCm39)	D683E	possibly damaging	Het
Faxc	A	G	4: 21,982,398 (GRCm39)	Y279C	probably damaging	Het
Fbxw7	T	C	3: 84,872,634 (GRCm39)	M191T	possibly damaging	Het
Fcgbp	T	A	7: 27,785,934 (GRCm39)	V457E	probably damaging	Het
Fip1l1	A	T	5: 74,756,624 (GRCm39)	T539S	probably damaging	Het
Gabra1	T	C	11: 42,038,052 (GRCm39)	T189A	possibly damaging	Het
Glg1	T	C	8: 111,884,668 (GRCm39)	D1118G	probably damaging	Het
Gli3	A	G	13: 15,901,116 (GRCm39)	D1501G	probably benign	Het
Hacd1	A	G	2: 14,049,761 (GRCm39)	I91T	possibly damaging	Het
Ift22	T	C	5: 136,941,745 (GRCm39)	V159A	probably benign	Het
Igkv1-110	T	A	6: 68,248,070 (GRCm39)	Y60N	probably damaging	Het
Inpp5d	A	G	1: 87,637,348 (GRCm39)	K502E	probably damaging	Het
Kcnt2	A	T	1: 140,435,467 (GRCm39)	Q478L	possibly damaging	Het
Mettl13	A	G	1: 162,364,847 (GRCm39)	F511L	probably damaging	Het
Mis18bp1	T	C	12: 65,180,401 (GRCm39)		probably null	Het
Mrps30	A	T	13: 118,523,479 (GRCm39)	S98T	probably benign	Het
Muc2	C	T	7: 141,279,643 (GRCm39)	A209V	probably benign	Het
Nfs1	A	T	2: 155,970,503 (GRCm39)	I270N	probably damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Obscn	A	G	11: 58,960,784 (GRCm39)	S3176P	probably damaging	Het
Or4c123	A	T	2: 89,126,801 (GRCm39)	L271Q	possibly damaging	Het
Or7g12	A	G	9: 18,899,494 (GRCm39)	D70G	possibly damaging	Het
P2ry12	T	A	3: 59,124,997 (GRCm39)	Y226F	probably damaging	Het
Pabpc2	C	A	18: 39,907,704 (GRCm39)	T323K	probably benign	Het
Pank2	A	G	2: 131,124,646 (GRCm39)	D71G	possibly damaging	Het
Patj	A	T	4: 98,385,412 (GRCm39)	H393L	probably damaging	Het
Pde8b	A	G	13: 95,182,993 (GRCm39)	V255A	probably damaging	Het
Plekhs1	T	C	19: 56,471,028 (GRCm39)	W374R	probably damaging	Het
Ppm1g	T	C	5: 31,361,437 (GRCm39)	D313G	probably damaging	Het
Rnf114	A	G	2: 167,353,134 (GRCm39)	N135S	probably benign	Het
Rnf43	T	G	11: 87,621,951 (GRCm39)	Y351D	probably damaging	Het
Robo1	A	T	16: 72,539,173 (GRCm39)	D90V	probably damaging	Het
Sbds	A	G	5: 130,277,125 (GRCm39)	V172A	possibly damaging	Het
Scamp5	T	A	9: 57,352,669 (GRCm39)	I167F	probably benign	Het
Sec14l5	A	G	16: 4,994,364 (GRCm39)	E386G	probably damaging	Het
Sfxn1	T	A	13: 54,246,433 (GRCm39)	V159E	probably damaging	Het
Sgsm1	C	T	5: 113,421,495 (GRCm39)	G531R	probably benign	Het
Slc22a26	T	A	19: 7,760,331 (GRCm39)	I471F	probably damaging	Het
Slc41a3	T	A	6: 90,589,123 (GRCm39)	M78K	probably benign	Het
Slc8a1	A	T	17: 81,749,084 (GRCm39)	Y653N	probably benign	Het
Slco6c1	A	T	1: 97,053,391 (GRCm39)	M170K	possibly damaging	Het
Smarca5	A	T	8: 81,440,577 (GRCm39)	I629K	probably benign	Het
Smg7	T	A	1: 152,715,817 (GRCm39)	D1099V	probably damaging	Het
Spata31e2	A	G	1: 26,721,895 (GRCm39)	V1095A	probably damaging	Het
Srbd1	T	C	17: 86,308,890 (GRCm39)	I763V	probably benign	Het
Stk25	A	G	1: 93,556,929 (GRCm39)	S30P	probably damaging	Het
Sv2b	C	T	7: 74,767,459 (GRCm39)	A646T	probably benign	Het
Tardbp	T	C	4: 148,705,093 (GRCm39)	M167V	probably benign	Het
Tmem132a	T	C	19: 10,842,647 (GRCm39)	N276S	probably damaging	Het
Ttpa	T	A	4: 20,028,435 (GRCm39)	S162T	probably benign	Het
Usp13	T	C	3: 32,935,572 (GRCm39)	Y333H	probably damaging	Het
Vmn2r3	T	A	3: 64,166,695 (GRCm39)	Y812F	probably damaging	Het
Yeats2	A	G	16: 20,009,144 (GRCm39)	T463A	probably benign	Het
Zbtb26	T	A	2: 37,326,927 (GRCm39)	K36N	probably benign	Het
Zfc3h1	A	T	10: 115,259,383 (GRCm39)	T1652S	probably benign	Het
Zfp472	G	A	17: 33,197,455 (GRCm39)	C510Y	possibly damaging	Het
Zfp518a	C	A	19: 40,902,780 (GRCm39)	T903K	probably damaging	Het
Zfp668	T	C	7: 127,465,598 (GRCm39)	T529A	probably benign	Het
Zfp930	A	G	8: 69,681,351 (GRCm39)	T349A	possibly damaging	Het
Zmiz2	T	G	11: 6,346,840 (GRCm39)	Y182D	probably 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
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
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'- AACTCACTCAAGTTGGAGGTC -3'
(R):5'- ACTGTCAGTAGCAGTATTTAGTACC -3'

Sequencing Primer
(F):5'- CTCAAGTTGGAGGTCATTAAAATGG -3'
(R):5'- CAGTAGCAGTATTTAGTACCAAAGAG -3'

Posted On

2021-08-31