Mutagenetix > Incidental Mutation

Incidental Mutation 'R7903:Nsfl1c'

610069

Institutional Source

Beutler Lab

Gene Symbol

Nsfl1c

Ensembl Gene

ENSMUSG00000027455

Gene Name

NSFL1 (p97) cofactor (p47)

Synonyms

p47

MMRRC Submission

045955-MU

Accession Numbers

Essential gene?

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

Stock #

R7903 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

151336102-151353230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 151338522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 42 (Y42H)

Ref Sequence

ENSEMBL: ENSMUSP00000028949 (fasta)

Gene Model

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

AlphaFold

Q9CZ44

Predicted Effect

probably damaging
Transcript: ENSMUST00000028949
AA Change: Y42H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028949
Gene: ENSMUSG00000027455
AA Change: Y42H

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: Y42H

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

SMART Domains

Protein: ENSMUSP00000086542
Gene: ENSMUSG00000027455
AA Change: Y42H

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 damaging
Transcript: ENSMUST00000103160
AA Change: Y42H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099449
Gene: ENSMUSG00000027455
AA Change: Y42H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	T	C	18: 24,608,783 (GRCm39)		probably null	Het
Acsm2	A	T	7: 119,195,215 (GRCm39)	T596S	probably benign	Het
Aggf1	T	C	13: 95,492,966 (GRCm39)	K548E	probably damaging	Het
Anapc15	T	G	7: 101,547,193 (GRCm39)	V23G	probably benign	Het
Atp10a	T	C	7: 58,308,570 (GRCm39)	L123P	probably damaging	Het
Brf2	G	A	8: 27,616,121 (GRCm39)	T88M	possibly damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc14	A	T	16: 34,525,280 (GRCm39)	H191L	probably damaging	Het
Cdc42bpg	T	A	19: 6,363,499 (GRCm39)	V453E	possibly damaging	Het
Corin	T	C	5: 72,458,843 (GRCm39)	K1110E	probably benign	Het
Cubn	T	C	2: 13,473,680 (GRCm39)	D421G	probably damaging	Het
D130043K22Rik	T	G	13: 25,059,995 (GRCm39)	V622G	probably damaging	Het
Ddb1	T	C	19: 10,585,712 (GRCm39)	V142A	probably benign	Het
Dnah3	A	G	7: 119,641,351 (GRCm39)	S1190P	probably damaging	Het
Eif4a3l2	A	G	6: 116,528,212 (GRCm39)	T30A	probably benign	Het
Elavl1	T	C	8: 4,351,756 (GRCm39)	K120R	probably benign	Het
Epb41l3	T	A	17: 69,581,332 (GRCm39)		probably null	Het
Fubp1	G	A	3: 151,920,498 (GRCm39)	W79*	probably null	Het
Gsto2	T	A	19: 47,873,096 (GRCm39)	I157N	possibly damaging	Het
Gucy2d	A	G	7: 98,108,272 (GRCm39)	D735G	probably damaging	Het
H2-D1	A	T	17: 35,482,967 (GRCm39)	I166F	probably damaging	Het
Hars2	C	A	18: 36,919,245 (GRCm39)	R128S	probably damaging	Het
Igf1r	T	C	7: 67,834,500 (GRCm39)	F496S	probably damaging	Het
Inf2	T	C	12: 112,578,988 (GRCm39)	V1256A	unknown	Het
Kif19b	T	C	5: 140,461,767 (GRCm39)	V523A	probably damaging	Het
Krt34	A	T	11: 99,932,321 (GRCm39)	M1K	probably null	Het
Lamtor2	T	C	3: 88,459,817 (GRCm39)	N26D	possibly damaging	Het
Map3k10	T	C	7: 27,357,382 (GRCm39)	T799A	probably damaging	Het
Map3k8	T	C	18: 4,349,162 (GRCm39)	D52G	probably benign	Het
Mcm10	T	C	2: 5,000,613 (GRCm39)	T693A	probably benign	Het
Mgarp	G	T	3: 51,304,119 (GRCm39)	A10E		Het
Mns1	A	T	9: 72,360,093 (GRCm39)	E414D	probably benign	Het
Myo16	A	G	8: 10,426,265 (GRCm39)	S341G	probably null	Het
Nags	A	T	11: 102,037,503 (GRCm39)	D198V	possibly damaging	Het
Nedd4l	C	T	18: 65,319,438 (GRCm39)	P464S	probably damaging	Het
Nicol1	T	A	5: 34,140,910 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,969,942 (GRCm39)	M67V	probably benign	Het
Or2b28	T	A	13: 21,532,046 (GRCm39)	I316K	probably benign	Het
Pcsk5	A	T	19: 17,549,847 (GRCm39)	L715Q	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Pfkfb4	A	T	9: 108,828,019 (GRCm39)	N64Y	probably damaging	Het
Pidd1	A	G	7: 141,019,744 (GRCm39)	F673L	probably damaging	Het
Pla2g7	A	G	17: 43,911,512 (GRCm39)		probably null	Het
Pml	T	C	9: 58,156,867 (GRCm39)	E36G	probably benign	Het
Proser1	C	A	3: 53,386,503 (GRCm39)	S795*	probably null	Het
Ptprs	T	A	17: 56,731,960 (GRCm39)	K1016*	probably null	Het
Rbfox1	T	A	16: 7,042,375 (GRCm39)	S76R	probably benign	Het
Reck	A	T	4: 43,927,166 (GRCm39)	I486F	possibly damaging	Het
Rnf103	A	T	6: 71,486,138 (GRCm39)	K256N	probably damaging	Het
Setd2	A	T	9: 110,446,905 (GRCm39)	N713I		Het
Slc38a4	C	T	15: 96,906,809 (GRCm39)	G310S	probably benign	Het
Slc7a4	C	T	16: 17,393,145 (GRCm39)	R218H	probably benign	Het
Slc7a7	T	C	14: 54,611,366 (GRCm39)	H344R	probably damaging	Het
Smarcc1	G	A	9: 110,033,334 (GRCm39)	E810K	probably benign	Het
Sord	T	A	2: 122,093,706 (GRCm39)	M275K	probably benign	Het
Spire2	C	A	8: 124,095,489 (GRCm39)	P631T	probably benign	Het
Sult6b1	T	C	17: 79,198,279 (GRCm39)	K207R	probably benign	Het
Syde2	T	A	3: 145,704,543 (GRCm39)	D498E	probably damaging	Het
Syne2	C	T	12: 76,110,958 (GRCm39)	T1024M	probably damaging	Het
Tdrd9	T	A	12: 112,018,410 (GRCm39)	D1276E	possibly damaging	Het
Tm7sf2	A	G	19: 6,121,365 (GRCm39)	F219S	probably damaging	Het
Tmcc2	C	T	1: 132,288,199 (GRCm39)	G496D	probably benign	Het
Tmtc4	G	A	14: 123,165,060 (GRCm39)	H600Y	probably benign	Het
Vmn1r224	A	T	17: 20,640,309 (GRCm39)	L295F	probably benign	Het
Vmn1r91	T	C	7: 19,835,135 (GRCm39)	I18T	possibly damaging	Het
Vwa7	G	A	17: 35,236,763 (GRCm39)	R110H	probably damaging	Het
Wbp2nl	C	T	15: 82,190,332 (GRCm39)	Q87*	probably null	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
R2051:Nsfl1c	UTSW	2	151,345,002 (GRCm39)	missense	probably damaging	1.00
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
R8302:Nsfl1c	UTSW	2	151,346,056 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCTTCACTTCCAGGCTAACATG -3'
(R):5'- CCTTGTAAGTTGACCTTTGAATCC -3'

Sequencing Primer
(F):5'- ACTTCCAGGCTAACATGTCTATTG -3'
(R):5'- GTAAGTTGACCTTTGAATCCCTCAG -3'

Posted On

2019-12-20