Mutagenetix > Incidental Mutation

Incidental Mutation 'R8114:Surf6'

631047

Institutional Source

Beutler Lab

Gene Symbol

Surf6

Ensembl Gene

ENSMUSG00000036160

Gene Name

surfeit gene 6

Synonyms

Surf-6, D2Wsu129e

MMRRC Submission

067543-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R8114 (G1)

Quality Score

178.009

Status

Validated

Chromosome

Chromosomal Location

26780430-26792899 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 26782380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 316 (Q316*)

Ref Sequence

ENSEMBL: ENSMUSP00000048457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047632] [ENSMUST00000114043]

AlphaFold

P70279

Predicted Effect

probably null
Transcript: ENSMUST00000047632
AA Change: Q316*

SMART Domains

Protein: ENSMUSP00000048457
Gene: ENSMUSG00000036160
AA Change: Q316*

Domain	Start	End	E-Value	Type
low complexity region	45	54	N/A	INTRINSIC
Pfam:SURF6	135	342	1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114043

SMART Domains

Protein: ENSMUSP00000109677
Gene: ENSMUSG00000036160

Domain	Start	End	E-Value	Type
low complexity region	45	54	N/A	INTRINSIC
Pfam:SURF6	132	207	1.6e-9	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.7%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved protein that is localized to the nucleolus. The encoded protein may function as a nucleolar-matrix protein with nucleic acid-binding properties. There is a pseudogene for this gene on chromosome Y. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	G	T	16: 14,407,091 (GRCm39)	E7*	probably null	Het
Abca7	T	C	10: 79,844,874 (GRCm39)	I1532T	probably damaging	Het
Adam12	T	C	7: 133,569,617 (GRCm39)	D286G	probably damaging	Het
Ahnak2	T	C	12: 112,741,163 (GRCm39)	T970A	probably benign	Het
Apcdd1	A	G	18: 63,083,127 (GRCm39)	N319S	probably damaging	Het
Arih1	A	G	9: 59,303,836 (GRCm39)	M423T	probably benign	Het
Ccdc110	A	T	8: 46,396,140 (GRCm39)	Q677L	probably damaging	Het
Ccdc121rt3	C	A	5: 112,503,563 (GRCm39)	R47L	probably benign	Het
Ccdc171	A	G	4: 83,614,537 (GRCm39)	N1046S	probably damaging	Het
Ccdc63	G	T	5: 122,251,244 (GRCm39)	Q389K	possibly damaging	Het
Cd274	T	C	19: 29,361,528 (GRCm39)	S279P	probably damaging	Het
Cdcp2	A	T	4: 106,962,555 (GRCm39)	I243F	probably damaging	Het
Cfap298	T	C	16: 90,731,545 (GRCm39)	T22A	probably benign	Het
Cul2	A	T	18: 3,426,164 (GRCm39)	K414*	probably null	Het
Daglb	A	G	5: 143,464,218 (GRCm39)	H243R	probably benign	Het
Dnah5	A	T	15: 28,240,122 (GRCm39)	Y493F	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Eea1	G	T	10: 95,830,851 (GRCm39)	E171*	probably null	Het
Eml6	C	T	11: 29,704,910 (GRCm39)	G1545R	probably damaging	Het
Epg5	A	G	18: 78,073,365 (GRCm39)	I2463V	probably benign	Het
Fgl1	A	G	8: 41,644,620 (GRCm39)	Y295H	probably damaging	Het
Frrs1	A	G	3: 116,675,425 (GRCm39)	T118A	probably damaging	Het
Gdi2	T	C	13: 3,598,906 (GRCm39)	V30A	probably damaging	Het
Ints4	A	G	7: 97,165,732 (GRCm39)		probably null	Het
Iqsec3	A	G	6: 121,390,458 (GRCm39)	S338P	unknown	Het
Klhl3	C	T	13: 58,161,677 (GRCm39)	V473M	possibly damaging	Het
Ldah	A	G	12: 8,334,039 (GRCm39)	E310G	probably damaging	Het
Mtnr1b	A	G	9: 15,785,563 (GRCm39)	V65A	probably damaging	Het
Myo7b	G	T	18: 32,098,677 (GRCm39)	T1735K	probably damaging	Het
Neb	A	T	2: 52,215,734 (GRCm39)	V191D	possibly damaging	Het
Oas1e	T	C	5: 120,924,708 (GRCm39)	T377A	unknown	Het
Odr4	A	T	1: 150,264,308 (GRCm39)	L67*	probably null	Het
Or10al6	T	C	17: 38,082,880 (GRCm39)	F112S	possibly damaging	Het
Or10v9	G	A	19: 11,832,466 (GRCm39)	P284S	probably damaging	Het
Or8k53	A	T	2: 86,177,530 (GRCm39)	H193Q	probably benign	Het
Platr25	T	C	13: 62,821,738 (GRCm39)	S70G	possibly damaging	Het
Plcl2	T	C	17: 50,994,815 (GRCm39)	S1095P	probably damaging	Het
Polq	A	G	16: 36,862,577 (GRCm39)	K637E	possibly damaging	Het
Rbm47	T	C	5: 66,184,196 (GRCm39)	I136V	probably benign	Het
Serpinb3c	A	C	1: 107,204,034 (GRCm39)	N59K	probably benign	Het
Shcbp1	T	A	8: 4,817,930 (GRCm39)	N122Y	probably damaging	Het
Sim2	T	C	16: 93,923,503 (GRCm39)	V347A	probably benign	Het
Slc22a30	A	T	19: 8,381,904 (GRCm39)	Y122*	probably null	Het
Slc34a2	G	A	5: 53,225,701 (GRCm39)	S450N	probably benign	Het
Snx17	A	T	5: 31,355,046 (GRCm39)	M354L	probably benign	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Tiprl	A	G	1: 165,055,991 (GRCm39)	S44P	probably benign	Het
Tmem39a	T	G	16: 38,411,359 (GRCm39)	L438R	probably damaging	Het
Tmem39a	C	A	16: 38,411,358 (GRCm39)	L438M	probably damaging	Het
Tns2	G	C	15: 102,019,825 (GRCm39)	V572L	probably benign	Het
Trdn	T	C	10: 32,959,624 (GRCm39)		probably benign	Het
Trpc7	T	C	13: 56,952,411 (GRCm39)	I587V	probably benign	Het
Usp47	A	G	7: 111,692,394 (GRCm39)	D952G	probably damaging	Het
Vmn2r58	A	T	7: 41,511,392 (GRCm39)	N470K	probably damaging	Het
Vmn2r67	A	T	7: 84,805,097 (GRCm39)	I5N	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Ythdc2	A	G	18: 45,010,807 (GRCm39)	D1272G	probably benign	Het
Zfp959	A	G	17: 56,205,496 (GRCm39)	Y511C	probably benign	Het

Other mutations in Surf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Surf6	APN	2	26,783,081 (GRCm39)	critical splice acceptor site	probably null
IGL01791:Surf6	APN	2	26,789,759 (GRCm39)	missense	probably benign	0.07
IGL02876:Surf6	APN	2	26,782,638 (GRCm39)	missense	probably damaging	1.00
Dividend	UTSW	2	26,789,368 (GRCm39)	missense	probably damaging	1.00
Rational	UTSW	2	26,782,274 (GRCm39)	missense	probably damaging	1.00
R2415:Surf6	UTSW	2	26,782,274 (GRCm39)	missense	probably damaging	1.00
R4458:Surf6	UTSW	2	26,782,721 (GRCm39)	missense	probably benign	0.29
R6594:Surf6	UTSW	2	26,792,761 (GRCm39)	missense	possibly damaging	0.69
R7044:Surf6	UTSW	2	26,789,368 (GRCm39)	missense	probably damaging	1.00
R9008:Surf6	UTSW	2	26,782,536 (GRCm39)	missense	probably damaging	1.00
R9343:Surf6	UTSW	2	26,783,006 (GRCm39)	missense	probably damaging	0.97
R9367:Surf6	UTSW	2	26,782,380 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCCTAGACCTGCACTAGC -3'
(R):5'- TGATCAGGATGCAGCCAAG -3'

Sequencing Primer
(F):5'- CAACCCTCAAGGATGGAGATG -3'
(R):5'- ATGCAGCCAAGGCCCAG -3'

Posted On

2020-06-30