Mutagenetix > Incidental Mutation

Incidental Mutation 'R2051:Nsfl1c'

226389

Institutional Source

Beutler Lab

Gene Symbol

Nsfl1c

Ensembl Gene

ENSMUSG00000027455

Gene Name

NSFL1 (p97) cofactor (p47)

Synonyms

p47

MMRRC Submission

040058-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R2051 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

151336102-151353230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151345002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 118 (N118S)

Ref Sequence

ENSEMBL: ENSMUSP00000086542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028949] [ENSMUST00000089140] [ENSMUST00000103160]

AlphaFold

Q9CZ44

Predicted Effect

probably damaging
Transcript: ENSMUST00000028949
AA Change: N116S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028949
Gene: ENSMUSG00000027455
AA Change: N116S

Domain	Start	End	E-Value	Type
Pfam:UBA_4	6	48	1.3e-18	PFAM
SEP	176	270	2.15e-57	SMART
UBX	290	369	6.8e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000089140
AA Change: N118S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086542
Gene: ENSMUSG00000027455
AA Change: N118S

Domain	Start	End	E-Value	Type
Pfam:UBA_4	6	48	2.2e-18	PFAM
SEP	178	272	2.15e-57	SMART
UBX	292	371	6.8e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103160
AA Change: N116S

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099449
Gene: ENSMUSG00000027455
AA Change: N116S

Domain	Start	End	E-Value	Type
Pfam:UBA_4	6	48	6.5e-19	PFAM
SEP	145	239	4.47e-55	SMART
UBX	259	338	6.8e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146695

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156182

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153333

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,562,447 (GRCm39)	T98M	probably damaging	Het
4932414N04Rik	G	T	2: 68,541,392 (GRCm39)	K10N	possibly damaging	Het
Aadat	T	A	8: 60,960,173 (GRCm39)	S40T	probably benign	Het
Abca13	A	G	11: 9,278,098 (GRCm39)	I3093V	probably benign	Het
Acacb	A	T	5: 114,383,951 (GRCm39)	Q2160L	probably damaging	Het
Acp6	G	T	3: 97,075,333 (GRCm39)	S189I	probably benign	Het
Actr5	A	T	2: 158,474,213 (GRCm39)	M339L	probably benign	Het
Adcy1	A	T	11: 7,111,885 (GRCm39)	K917*	probably null	Het
Adgrg5	C	T	8: 95,668,695 (GRCm39)	R504C	probably benign	Het
Ago1	T	C	4: 126,354,246 (GRCm39)	H188R	probably benign	Het
Akap9	T	A	5: 4,025,685 (GRCm39)	C23*	probably null	Het
Ank3	T	C	10: 69,733,920 (GRCm39)	I728T	probably damaging	Het
Ankrd50	A	G	3: 38,508,642 (GRCm39)	S1242P	probably benign	Het
Arhgap29	G	A	3: 121,775,509 (GRCm39)	R84H	probably benign	Het
Arhgef10	A	G	8: 14,995,320 (GRCm39)	D7G	probably null	Het
Arid4b	A	G	13: 14,362,230 (GRCm39)	E898G	probably damaging	Het
Atrnl1	A	G	19: 57,680,281 (GRCm39)	N727S	probably benign	Het
Baalc	G	T	15: 38,796,629 (GRCm39)		probably benign	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Chpf2	G	T	5: 24,796,274 (GRCm39)	V407L	probably benign	Het
Chrnb3	C	A	8: 27,876,839 (GRCm39)	N84K	probably damaging	Het
Cnot1	A	G	8: 96,451,221 (GRCm39)	F2171L	possibly damaging	Het
Csmd3	C	T	15: 48,485,389 (GRCm39)		probably null	Het
Cux1	T	A	5: 136,361,512 (GRCm39)	Q138L	probably damaging	Het
Cyp2c65	A	G	19: 39,070,675 (GRCm39)	N286S	probably benign	Het
Dclre1b	T	C	3: 103,716,356 (GRCm39)	S17G	possibly damaging	Het
Dlgap5	A	G	14: 47,648,941 (GRCm39)	S221P	probably benign	Het
Dnah1	T	G	14: 31,001,080 (GRCm39)	T2422P	probably damaging	Het
Enpp1	A	G	10: 24,587,702 (GRCm39)		probably null	Het
Erbb2	T	C	11: 98,310,998 (GRCm39)	C53R	probably damaging	Het
Exoc8	A	G	8: 125,622,219 (GRCm39)	V716A	probably benign	Het
Fam193a	T	A	5: 34,619,494 (GRCm39)	D766E	probably benign	Het
Fbxo43	C	A	15: 36,162,278 (GRCm39)	G310W	probably damaging	Het
Fcgbp	C	T	7: 27,819,785 (GRCm39)	T2504I	probably damaging	Het
Fnbp4	C	T	2: 90,587,876 (GRCm39)	P418L	probably benign	Het
Gjd2	T	C	2: 113,841,539 (GRCm39)	T313A	probably damaging	Het
Gm12695	T	A	4: 96,658,008 (GRCm39)	R54W	probably damaging	Het
Gm128	T	C	3: 95,148,051 (GRCm39)	D81G	possibly damaging	Het
Gm21834	A	G	17: 58,048,763 (GRCm39)	V151A	possibly damaging	Het
Grhl1	T	A	12: 24,636,151 (GRCm39)		probably null	Het
Hcn1	C	T	13: 118,112,619 (GRCm39)	T861I	probably damaging	Het
Herc6	C	A	6: 57,602,961 (GRCm39)	Q547K	probably benign	Het
Iqgap3	T	C	3: 88,027,474 (GRCm39)	L699P	probably damaging	Het
Kank4	T	C	4: 98,668,339 (GRCm39)	D36G	probably damaging	Het
Kcnk5	A	T	14: 20,192,277 (GRCm39)	S295T	probably damaging	Het
Krt18	T	C	15: 101,937,935 (GRCm39)	V144A	probably benign	Het
Krtap9-5	A	G	11: 99,840,030 (GRCm39)	I244V	unknown	Het
Leng1	T	G	7: 3,668,400 (GRCm39)	N16T	probably damaging	Het
Lss	A	G	10: 76,367,712 (GRCm39)	K15E	possibly damaging	Het
Mastl	G	T	2: 23,022,836 (GRCm39)	A629E	possibly damaging	Het
Mavs	G	C	2: 131,082,370 (GRCm39)	A85P	possibly damaging	Het
Nav3	T	C	10: 109,660,536 (GRCm39)	D678G	probably damaging	Het
Nsd3	T	G	8: 26,181,116 (GRCm39)	S906A	probably damaging	Het
Nup205	T	A	6: 35,207,451 (GRCm39)	M1501K	probably benign	Het
Or4p7	C	T	2: 88,221,882 (GRCm39)	T97M	possibly damaging	Het
Or6n1	T	A	1: 173,916,785 (GRCm39)	Y60N	possibly damaging	Het
Pax8	A	G	2: 24,326,520 (GRCm39)	S281P	probably benign	Het
Pds5b	T	G	5: 150,671,655 (GRCm39)	I433R	probably damaging	Het
Peg3	T	C	7: 6,715,720 (GRCm39)	N117D	probably damaging	Het
Pfkm	A	T	15: 98,029,573 (GRCm39)	D728V	probably benign	Het
Phkb	T	C	8: 86,776,450 (GRCm39)		probably null	Het
Pkp4	T	C	2: 59,165,248 (GRCm39)	V704A	probably benign	Het
Ppfia2	T	A	10: 106,673,160 (GRCm39)	S501T	probably damaging	Het
Ptpru	T	C	4: 131,546,398 (GRCm39)	E284G	possibly damaging	Het
Ror1	C	T	4: 100,265,065 (GRCm39)	R180*	probably null	Het
Ryr3	T	A	2: 112,586,986 (GRCm39)	Y2666F	probably damaging	Het
Sec23a	C	A	12: 59,037,754 (GRCm39)		probably null	Het
Sertad3	C	T	7: 27,175,694 (GRCm39)	Q43*	probably null	Het
Setd2	C	T	9: 110,379,958 (GRCm39)	H1258Y	probably benign	Het
Sharpin	A	G	15: 76,232,407 (GRCm39)	S177P	probably benign	Het
Skap1	T	C	11: 96,432,289 (GRCm39)	F86S	possibly damaging	Het
Slc8a2	T	C	7: 15,874,940 (GRCm39)	I396T	probably damaging	Het
Slc9a2	T	C	1: 40,765,597 (GRCm39)	F329S	probably damaging	Het
Slx4ip	C	T	2: 136,908,125 (GRCm39)	L161F	possibly damaging	Het
Sox4	A	G	13: 29,136,764 (GRCm39)	S81P	probably damaging	Het
Ssc4d	G	T	5: 135,999,118 (GRCm39)	S28R	probably benign	Het
St8sia2	C	T	7: 73,592,950 (GRCm39)	G369S	possibly damaging	Het
Swt1	T	C	1: 151,248,081 (GRCm39)	Y836C	probably damaging	Het
Taar7d	A	G	10: 23,903,904 (GRCm39)	D262G	probably benign	Het
Taar8b	T	A	10: 23,967,212 (GRCm39)	L327F	probably benign	Het
Tars1	A	T	15: 11,393,280 (GRCm39)	L138*	probably null	Het
Tbcd	A	T	11: 121,344,496 (GRCm39)	D75V	probably damaging	Het
Tesc	A	G	5: 118,184,394 (GRCm39)	I25V	probably damaging	Het
Tmem132e	G	T	11: 82,331,264 (GRCm39)	S407I	probably damaging	Het
Tmem50b	C	A	16: 91,377,180 (GRCm39)	A95S	possibly damaging	Het
Tnr	T	C	1: 159,719,603 (GRCm39)	I960T	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpcn1	G	C	5: 120,681,453 (GRCm39)	P532A	probably damaging	Het
Tpsb2	T	C	17: 25,585,539 (GRCm39)		probably benign	Het
Triobp	C	A	15: 78,888,740 (GRCm39)	H1948Q	probably damaging	Het
Tshb	T	C	3: 102,684,857 (GRCm39)	I116V	probably benign	Het
Ttc13	A	T	8: 125,398,950 (GRCm39)		probably null	Het
Usp34	A	T	11: 23,414,468 (GRCm39)	T2804S	probably damaging	Het
Vmn2r18	A	T	5: 151,486,016 (GRCm39)	C493S	possibly damaging	Het
Vmn2r2	T	C	3: 64,024,766 (GRCm39)	K605R	possibly damaging	Het
Vmn2r37	T	C	7: 9,220,792 (GRCm39)	Y357C	probably damaging	Het
Zc3h6	T	G	2: 128,857,538 (GRCm39)	S686A	possibly damaging	Het
Zfp608	G	A	18: 55,121,386 (GRCm39)	P67L	probably benign	Het
Zyg11a	T	C	4: 108,049,244 (GRCm39)		probably benign	Het

Other mutations in Nsfl1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01989:Nsfl1c	APN	2	151,342,649 (GRCm39)	missense	probably damaging	1.00
IGL02137:Nsfl1c	APN	2	151,351,509 (GRCm39)	missense	probably damaging	0.98
IGL02817:Nsfl1c	APN	2	151,342,651 (GRCm39)	missense	probably damaging	1.00
R1434:Nsfl1c	UTSW	2	151,342,666 (GRCm39)	missense	probably benign	0.00
R1973:Nsfl1c	UTSW	2	151,347,334 (GRCm39)	missense	probably damaging	0.98
R3861:Nsfl1c	UTSW	2	151,352,824 (GRCm39)	splice site	probably null
R4749:Nsfl1c	UTSW	2	151,351,526 (GRCm39)	missense	probably benign	0.01
R4880:Nsfl1c	UTSW	2	151,348,230 (GRCm39)	missense	probably damaging	1.00
R5629:Nsfl1c	UTSW	2	151,346,085 (GRCm39)	missense	probably damaging	1.00
R5765:Nsfl1c	UTSW	2	151,346,085 (GRCm39)	missense	probably damaging	1.00
R5924:Nsfl1c	UTSW	2	151,347,320 (GRCm39)	missense	probably benign	0.36
R6818:Nsfl1c	UTSW	2	151,344,940 (GRCm39)	nonsense	probably null
R7359:Nsfl1c	UTSW	2	151,336,279 (GRCm39)	missense	probably benign
R7424:Nsfl1c	UTSW	2	151,342,673 (GRCm39)	missense	probably benign	0.07
R7453:Nsfl1c	UTSW	2	151,351,431 (GRCm39)	missense	possibly damaging	0.93
R7903:Nsfl1c	UTSW	2	151,338,522 (GRCm39)	missense	probably damaging	1.00
R8302:Nsfl1c	UTSW	2	151,346,056 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTGACTTGATGGCTGCTC -3'
(R):5'- AGGAGCCAATCTCTGCTAGAG -3'

Sequencing Primer
(F):5'- GACTTGATGGCTGCTCCCTTTG -3'
(R):5'- TTTACTGGTCTCTCCAGG -3'

Posted On

2014-09-17