Mutagenetix > Incidental Mutation

Incidental Mutation 'R5870:Surf1'

490514

Institutional Source

Beutler Lab

Gene Symbol

Surf1

Ensembl Gene

ENSMUSG00000015790

Gene Name

surfeit gene 1

Synonyms

Surf-1, 0610010F23Rik

MMRRC Submission

044078-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.302) question?

Stock #

R5870 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

26803393-26806542 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 26806271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015011] [ENSMUST00000015017] [ENSMUST00000015934] [ENSMUST00000102898] [ENSMUST00000147110] [ENSMUST00000129682] [ENSMUST00000133513] [ENSMUST00000167661]

AlphaFold

P09925

Predicted Effect

probably benign
Transcript: ENSMUST00000015011

SMART Domains

Protein: ENSMUSP00000015011
Gene: ENSMUSG00000014867

Domain	Start	End	E-Value	Type
Pfam:SURF4	4	269	5.7e-132	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000015017

SMART Domains

Protein: ENSMUSP00000015017
Gene: ENSMUSG00000014873

Domain	Start	End	E-Value	Type
Pfam:SURF2	4	251	5.7e-98	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000015934

SMART Domains

Protein: ENSMUSP00000015934
Gene: ENSMUSG00000015790

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	83	98	N/A	INTRINSIC
Pfam:SURF1	106	321	6.7e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083361

Predicted Effect

probably benign
Transcript: ENSMUST00000102898

SMART Domains

Protein: ENSMUSP00000099962
Gene: ENSMUSG00000062647

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
Pfam:Ribosomal_L7Ae	122	216	1.2e-25	PFAM
low complexity region	251	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147110

SMART Domains

Protein: ENSMUSP00000141238
Gene: ENSMUSG00000015790

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
Pfam:SURF1	30	240	5.1e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129682

Predicted Effect

probably benign
Transcript: ENSMUST00000133513

SMART Domains

Protein: ENSMUSP00000141317
Gene: ENSMUSG00000015790

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
Pfam:SURF1	30	63	7.2e-10	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000129822

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150776

Predicted Effect

silent
Transcript: ENSMUST00000167661

SMART Domains

Protein: ENSMUSP00000128488
Gene: ENSMUSG00000015790

Domain	Start	End	E-Value	Type
low complexity region	51	66	N/A	INTRINSIC
Pfam:SURF1	73	290	5.9e-64	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000183520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157066

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

93% (84/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene affect calcium uptake by mitochondria in neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	A	G	16: 4,236,232 (GRCm39)	V156A	probably damaging	Het
Ak6	C	A	13: 100,791,932 (GRCm39)	P125Q	probably damaging	Het
Aqp4	A	C	18: 15,532,946 (GRCm39)	V49G	probably damaging	Het
Arfgef1	A	G	1: 10,251,163 (GRCm39)	I874T	probably damaging	Het
Arid1a	T	C	4: 133,408,387 (GRCm39)	D2040G	unknown	Het
Atp1a3	T	G	7: 24,697,003 (GRCm39)	D220A	probably benign	Het
C2cd4c	A	T	10: 79,448,043 (GRCm39)	I368N	possibly damaging	Het
Ccnt1	G	A	15: 98,441,394 (GRCm39)	Q625*	probably null	Het
Cd177	T	A	7: 24,455,757 (GRCm39)	H255L	probably benign	Het
Cdipt	G	A	7: 126,578,094 (GRCm39)	V114M	probably benign	Het
Coro1b	T	A	19: 4,199,384 (GRCm39)	H14Q	probably damaging	Het
Ctdp1	T	A	18: 80,451,901 (GRCm39)	D158V	unknown	Het
Cts7	A	T	13: 61,503,545 (GRCm39)	S140T	probably damaging	Het
Dlgap3	T	A	4: 127,089,502 (GRCm39)	L366*	probably null	Het
Dnah9	C	T	11: 65,976,036 (GRCm39)	A1338T	probably benign	Het
Dock7	T	C	4: 98,952,199 (GRCm39)	I424V	probably benign	Het
Dock8	G	T	19: 25,109,490 (GRCm39)	A891S	probably benign	Het
Dync2i1	A	G	12: 116,219,865 (GRCm39)	S26P	possibly damaging	Het
Elmod3	A	G	6: 72,571,721 (GRCm39)		probably null	Het
Eps15	G	A	4: 109,218,507 (GRCm39)	E107K	probably damaging	Het
Esco1	A	T	18: 10,593,744 (GRCm39)		probably null	Het
Fuz	A	G	7: 44,549,742 (GRCm39)	T407A	probably damaging	Het
Galr1	A	T	18: 82,424,197 (GRCm39)	F27I	probably benign	Het
Glt1d1	A	G	5: 127,754,344 (GRCm39)	Y182C	probably damaging	Het
Gm37240	A	T	3: 84,597,828 (GRCm39)		probably benign	Het
Gm37610	A	G	6: 41,061,848 (GRCm39)		noncoding transcript	Het
Gm6658	G	T	8: 91,635,020 (GRCm39)		probably benign	Het
Gm9376	A	G	14: 118,504,789 (GRCm39)	T74A	possibly damaging	Het
Hadha	G	A	5: 30,349,284 (GRCm39)	S109F	possibly damaging	Het
Herc3	A	T	6: 58,893,435 (GRCm39)	Q899L	probably benign	Het
Ift172	C	T	5: 31,434,284 (GRCm39)	E485K	probably benign	Het
Lrrc8e	A	G	8: 4,285,725 (GRCm39)	K650R	possibly damaging	Het
Ly6d	A	T	15: 74,635,381 (GRCm39)	V10D	possibly damaging	Het
Med27	A	G	2: 29,279,823 (GRCm39)		probably null	Het
Med29	A	T	7: 28,091,922 (GRCm39)	V56E	probably damaging	Het
Mobp	A	G	9: 119,996,919 (GRCm39)	K17E	probably damaging	Het
Mrpl37	G	A	4: 106,923,919 (GRCm39)	T25I	probably benign	Het
Myh1	A	G	11: 67,092,805 (GRCm39)	D33G	possibly damaging	Het
Nrg3	T	A	14: 39,194,586 (GRCm39)	I58F	possibly damaging	Het
Or52e2	A	G	7: 102,804,948 (GRCm39)	I2T	probably benign	Het
Or7e176	A	G	9: 20,171,874 (GRCm39)	D246G	probably benign	Het
Padi1	T	A	4: 140,553,892 (GRCm39)	D359V	probably benign	Het
Pcdh7	T	C	5: 57,877,753 (GRCm39)	V436A	possibly damaging	Het
Pgm3	C	A	9: 86,452,414 (GRCm39)	K15N	probably damaging	Het
Phip	A	T	9: 82,790,730 (GRCm39)		probably benign	Het
Pot1a	G	A	6: 25,778,950 (GRCm39)	T48I	possibly damaging	Het
Ppic	T	C	18: 53,542,333 (GRCm39)	K125R	probably benign	Het
Ppm1j	T	C	3: 104,692,811 (GRCm39)	V440A	possibly damaging	Het
Prg4	T	A	1: 150,331,300 (GRCm39)	K458*	probably null	Het
Rd3	A	T	1: 191,717,261 (GRCm39)	M244L	probably benign	Het
Rflnb	A	G	11: 75,912,864 (GRCm39)	Y175H	probably benign	Het
Rnf157	T	A	11: 116,237,900 (GRCm39)	S574C	probably benign	Het
Sardh	A	G	2: 27,110,653 (GRCm39)		probably null	Het
Senp3	C	T	11: 69,569,048 (GRCm39)		probably null	Het
Siglec1	G	A	2: 130,914,767 (GRCm39)	R1450C	probably damaging	Het
Sim2	A	G	16: 93,924,193 (GRCm39)	H446R	probably damaging	Het
Spon1	T	C	7: 113,631,021 (GRCm39)	I444T	probably damaging	Het
Srebf1	T	A	11: 60,094,410 (GRCm39)	Q568H	possibly damaging	Het
Stxbp4	A	T	11: 90,428,782 (GRCm39)	I441N	possibly damaging	Het
Sugt1	G	A	14: 79,846,451 (GRCm39)	V163I	probably benign	Het
Synj2	A	G	17: 6,088,128 (GRCm39)	E1348G	probably benign	Het
Tc2n	A	T	12: 101,619,111 (GRCm39)	V349D	probably damaging	Het
Ten1	A	G	11: 116,105,751 (GRCm39)	R112G	possibly damaging	Het
Tm9sf4	A	G	2: 153,036,201 (GRCm39)	D321G	probably damaging	Het
Ttll12	A	T	15: 83,461,237 (GRCm39)	M594K	probably damaging	Het
Ttn	T	A	2: 76,703,058 (GRCm39)		probably benign	Het
Usp28	C	T	9: 48,937,285 (GRCm39)	Q185*	probably null	Het
Vmn2r112	A	G	17: 22,838,004 (GRCm39)	I822V	probably benign	Het
Zc3hc1	A	T	6: 30,382,682 (GRCm39)	L88*	probably null	Het
Zfr	T	A	15: 12,160,701 (GRCm39)	V758D	probably damaging	Het
Zfyve27	T	G	19: 42,160,110 (GRCm39)	L42R	probably benign	Het

Other mutations in Surf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Surf1	APN	2	26,803,584 (GRCm39)	splice site	probably null
IGL02159:Surf1	APN	2	26,805,663 (GRCm39)	missense	probably damaging	1.00
broadsword	UTSW	2	26,805,963 (GRCm39)	splice site	probably benign
dannyboy	UTSW	2	26,806,271 (GRCm39)	splice site	probably benign
R1938:Surf1	UTSW	2	26,805,982 (GRCm39)	missense	probably benign	0.27
R2414:Surf1	UTSW	2	26,806,295 (GRCm39)	missense	probably damaging	0.98
R2440:Surf1	UTSW	2	26,803,919 (GRCm39)	splice site	probably null
R4797:Surf1	UTSW	2	26,806,358 (GRCm39)	unclassified	probably benign
R4836:Surf1	UTSW	2	26,804,255 (GRCm39)	missense	possibly damaging	0.81
R5353:Surf1	UTSW	2	26,804,204 (GRCm39)	missense	probably benign	0.44
R5586:Surf1	UTSW	2	26,805,963 (GRCm39)	splice site	probably benign
R6207:Surf1	UTSW	2	26,804,819 (GRCm39)	missense	probably benign	0.15
R7833:Surf1	UTSW	2	26,806,280 (GRCm39)	missense	probably benign	0.39
R8976:Surf1	UTSW	2	26,805,767 (GRCm39)	missense	probably benign	0.00
R9454:Surf1	UTSW	2	26,804,808 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- AAAGACGCTCCTCCTGACAG -3'
(R):5'- ACATCAGAGGGTGGTTCGTC -3'

Sequencing Primer
(F):5'- TCCTGACAGCGCAGAACTG -3'
(R):5'- GGTTCGTCCATGATCGGAG -3'

Posted On

2017-10-20