Mutagenetix > Incidental Mutation

Incidental Mutation 'R4797:Surf1'

426237

Institutional Source

Beutler Lab

Gene Symbol

Surf1

Ensembl Gene

ENSMUSG00000015790

Gene Name

surfeit gene 1

Synonyms

Surf-1, 0610010F23Rik

MMRRC Submission

042421-MU

Accession Numbers

Essential gene?

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

Stock #

R4797 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

26803393-26806542 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 26806358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

probably benign
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: 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

noncoding transcript
Transcript: ENSMUST00000125408

Predicted Effect

probably benign
Transcript: ENSMUST00000129682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142967

Predicted Effect

probably benign
Transcript: ENSMUST00000129822

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

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

noncoding transcript
Transcript: ENSMUST00000150776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157066

Predicted Effect

probably benign
Transcript: ENSMUST00000183520

Predicted Effect

probably benign
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

96% (69/72)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,008,945 (GRCm39)	T1195A	probably benign	Het
Apobr	G	A	7: 126,186,756 (GRCm39)	E756K	probably benign	Het
Arpc3	A	G	5: 122,542,215 (GRCm39)	E77G	possibly damaging	Het
Atp2b2	A	T	6: 113,766,847 (GRCm39)	M464K	possibly damaging	Het
Atxn7l2	A	G	3: 108,111,866 (GRCm39)	S379P	probably damaging	Het
Ccdc91	A	T	6: 147,493,641 (GRCm39)	E344D	unknown	Het
Cdc42bpg	G	A	19: 6,370,477 (GRCm39)	R1190Q	probably damaging	Het
Cdh17	C	A	4: 11,810,390 (GRCm39)	Q694K	probably benign	Het
Chordc1	G	T	9: 18,203,672 (GRCm39)		probably benign	Het
Copg1	A	G	6: 87,880,450 (GRCm39)		probably benign	Het
Dcbld1	T	C	10: 52,160,223 (GRCm39)	V37A	probably damaging	Het
Ddb2	A	G	2: 91,067,163 (GRCm39)		probably benign	Het
Dok5	A	T	2: 170,672,042 (GRCm39)	R115*	probably null	Het
Drc7	T	C	8: 95,800,925 (GRCm39)	I649T	probably damaging	Het
Efr3a	A	G	15: 65,729,437 (GRCm39)	T713A	probably damaging	Het
Epg5	G	A	18: 78,073,614 (GRCm39)	D2494N	probably benign	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Glb1l3	T	C	9: 26,739,742 (GRCm39)	D356G	probably damaging	Het
Gm1818	A	T	12: 48,602,393 (GRCm39)		noncoding transcript	Het
Gsta5	A	T	9: 78,211,679 (GRCm39)	Y147F	probably benign	Het
Hcrtr2	C	A	9: 76,161,816 (GRCm39)	M191I	probably damaging	Het
Heatr1	G	A	13: 12,426,929 (GRCm39)	E685K	probably benign	Het
Hsd3b2	A	T	3: 98,618,979 (GRCm39)	L322Q	probably damaging	Het
Hsd3b9	T	A	3: 98,363,747 (GRCm39)	R62*	probably null	Het
Htra4	T	C	8: 25,523,675 (GRCm39)	T297A	probably damaging	Het
Il22	C	A	10: 118,041,058 (GRCm39)	R55S	probably damaging	Het
Ints1	G	A	5: 139,757,631 (GRCm39)	T324M	possibly damaging	Het
Ints15	A	G	5: 143,297,504 (GRCm39)	F181S	probably benign	Het
Ints7	T	C	1: 191,329,045 (GRCm39)	V268A	probably damaging	Het
Kctd20	G	A	17: 29,185,766 (GRCm39)	V370I	probably damaging	Het
Lama1	T	A	17: 68,023,770 (GRCm39)	M55K	probably benign	Het
Larp1	C	A	11: 57,938,806 (GRCm39)	S494*	probably null	Het
Ldb3	A	T	14: 34,277,470 (GRCm39)	H262Q	possibly damaging	Het
Lepr	C	A	4: 101,637,244 (GRCm39)	T711K	possibly damaging	Het
Mon2	T	C	10: 122,852,422 (GRCm39)	I984V	probably benign	Het
Naip2	T	A	13: 100,298,243 (GRCm39)	S598C	probably damaging	Het
Oasl1	A	G	5: 115,066,217 (GRCm39)	M112V	probably benign	Het
Or2d2b	A	T	7: 106,705,234 (GRCm39)	M278K	probably benign	Het
Or6c214	A	T	10: 129,590,390 (GRCm39)	S310T	probably benign	Het
Or7c19	G	T	8: 85,957,567 (GRCm39)	A148S	probably benign	Het
P2ry1	T	A	3: 60,910,881 (GRCm39)	S7T	probably benign	Het
Pidd1	G	T	7: 141,022,899 (GRCm39)	R98S	possibly damaging	Het
Pkd1l1	A	C	11: 8,911,340 (GRCm39)	F312L	unknown	Het
Pla2r1	A	T	2: 60,334,524 (GRCm39)	M416K	possibly damaging	Het
Pold1	T	C	7: 44,191,325 (GRCm39)	E194G	possibly damaging	Het
Poldip2	T	A	11: 78,404,813 (GRCm39)	Y77N	probably damaging	Het
Ppp2r3d	G	T	9: 101,089,179 (GRCm39)	N381K	probably benign	Het
Prrc2a	G	A	17: 35,369,018 (GRCm39)	P2006L	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rsu1	A	G	2: 13,221,537 (GRCm39)		probably benign	Het
Selenoi	T	A	5: 30,457,740 (GRCm39)	W90R	probably damaging	Het
Spag17	T	A	3: 99,891,795 (GRCm39)	D216E	possibly damaging	Het
Spata31	C	A	13: 65,070,556 (GRCm39)	Y901*	probably null	Het
Ssrp1	T	A	2: 84,876,066 (GRCm39)	Y607*	probably null	Het
Stk10	T	A	11: 32,548,471 (GRCm39)	N346K	probably benign	Het
Synj2	A	T	17: 6,084,163 (GRCm39)	E283V	probably damaging	Het
Tg	G	A	15: 66,629,855 (GRCm39)		probably null	Het
Traf1	A	T	2: 34,846,289 (GRCm39)	D42E	probably benign	Het
Ttn	T	C	2: 76,571,209 (GRCm39)	I26561M	probably damaging	Het
Ubp1	T	C	9: 113,785,070 (GRCm39)	Y128H	probably damaging	Het
Vmn1r216	T	A	13: 23,283,506 (GRCm39)	I63K	probably benign	Het
Vmn1r49	T	A	6: 90,049,612 (GRCm39)	H130L	probably benign	Het
Vmn2r90	C	T	17: 17,932,567 (GRCm39)	T158I	probably damaging	Het
Vps13d	T	C	4: 144,780,725 (GRCm39)	S885G	probably damaging	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
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
R5870:Surf1	UTSW	2	26,806,271 (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'- AAGTTCTCTTGGGCAGGGTC -3'
(R):5'- CGCTTTCCAGGCACAATACTCC -3'

Sequencing Primer
(F):5'- TTGGGCAGGGTCCTCCTC -3'
(R):5'- AGGCACAATACTCCCGGGTC -3'

Posted On

2016-08-30