Mutagenetix > Incidental Mutation

Incidental Mutation 'R1538:Surf4'

169651

Institutional Source

Beutler Lab

Gene Symbol

Surf4

Ensembl Gene

ENSMUSG00000014867

Gene Name

surfeit gene 4

Synonyms

Surf-4

MMRRC Submission

039577-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R1538 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

26810053-26823793 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 26823710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015011] [ENSMUST00000055406] [ENSMUST00000153641] [ENSMUST00000153771]

AlphaFold

Q64310

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: ENSMUST00000055406

SMART Domains

Protein: ENSMUSP00000062967
Gene: ENSMUSG00000049897

Domain	Start	End	E-Value	Type
Pfam:Pkinase	3	266	8e-35	PFAM
Pfam:Pkinase_Tyr	7	262	4.5e-27	PFAM
low complexity region	352	366	N/A	INTRINSIC
low complexity region	446	456	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153641

SMART Domains

Protein: ENSMUSP00000124720
Gene: ENSMUSG00000014867

Domain	Start	End	E-Value	Type
Pfam:SURF4	4	82	1.9e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153771

SMART Domains

Protein: ENSMUSP00000121332
Gene: ENSMUSG00000049897

Domain	Start	End	E-Value	Type
Pfam:Pkinase	4	116	2.3e-8	PFAM
Pfam:Pkinase_Tyr	6	115	4.6e-6	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000154651

SMART Domains

Protein: ENSMUSP00000125327
Gene: ENSMUSG00000014867

Domain	Start	End	E-Value	Type
Pfam:SURF4	16	124	2e-43	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located in the surfeit gene cluster, which is comprised of very tightly linked housekeeping genes that do not share sequence similarity. The encoded protein is a conserved integral membrane protein that interacts with endoplasmic reticulum-Golgi intermediate compartment proteins. Disruption of this gene results in reduced numbers of endoplasmic reticulum-Golgi intermediate compartment clusters and redistribution of coat protein I to the cytosol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,771,162 (GRCm39)	R117L	probably benign	Het
4930447C04Rik	G	A	12: 72,928,120 (GRCm39)	A537V	possibly damaging	Het
4930579F01Rik	A	C	3: 137,889,517 (GRCm39)	D33E	probably damaging	Het
Acnat1	T	C	4: 49,447,835 (GRCm39)	K249E	possibly damaging	Het
Ankrd13a	T	C	5: 114,942,295 (GRCm39)	I526T	possibly damaging	Het
Aplp1	C	A	7: 30,135,452 (GRCm39)	E535D	probably benign	Het
Armc8	T	A	9: 99,387,343 (GRCm39)	H425L	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asprv1	C	T	6: 86,605,618 (GRCm39)	Q155*	probably null	Het
Atl1	A	G	12: 69,972,962 (GRCm39)	Q94R	probably benign	Het
Atp2a2	A	G	5: 122,595,440 (GRCm39)	L970P	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bod1l	A	G	5: 41,973,772 (GRCm39)	M2514T	probably benign	Het
Cacfd1	T	A	2: 26,908,951 (GRCm39)	D97E	probably benign	Het
Cacna1e	A	G	1: 154,437,504 (GRCm39)	L344P	probably damaging	Het
Cacna2d2	C	A	9: 107,394,615 (GRCm39)	R596S	probably damaging	Het
Catip	C	A	1: 74,403,811 (GRCm39)	S176*	probably null	Het
Cdcp1	G	A	9: 123,002,653 (GRCm39)	S806L	probably damaging	Het
Cdk6	A	T	5: 3,570,675 (GRCm39)	I289L	probably benign	Het
Cers3	C	T	7: 66,431,571 (GRCm39)	T182I	probably damaging	Het
Cfap46	T	A	7: 139,262,924 (GRCm39)	N43I	probably null	Het
Clec4n	A	T	6: 123,206,992 (GRCm39)	R5S	possibly damaging	Het
Cnr2	G	T	4: 135,644,012 (GRCm39)	S30I	probably benign	Het
Col18a1	C	T	10: 76,907,170 (GRCm39)	G870E	probably damaging	Het
Cpne6	T	C	14: 55,752,677 (GRCm39)	V289A	possibly damaging	Het
Crym	G	A	7: 119,796,938 (GRCm39)	L141F	probably benign	Het
Cxxc5	T	C	18: 35,991,622 (GRCm39)	S8P	unknown	Het
Dido1	A	C	2: 180,326,763 (GRCm39)	S453R	possibly damaging	Het
Dnah2	A	C	11: 69,368,028 (GRCm39)	S1770R	probably benign	Het
Dnah7a	A	G	1: 53,535,148 (GRCm39)	V2704A	possibly damaging	Het
Eml5	T	C	12: 98,760,535 (GRCm39)	N1738S	probably damaging	Het
Eri3	A	G	4: 117,439,836 (GRCm39)	T138A	possibly damaging	Het
Ext2	C	T	2: 93,537,632 (GRCm39)	E585K	probably damaging	Het
Fbxw19	T	A	9: 109,324,056 (GRCm39)	S38C	probably damaging	Het
Fcgbpl1	A	T	7: 27,854,917 (GRCm39)	I1848F	probably damaging	Het
Fmo6	G	A	1: 162,753,675 (GRCm39)	P156S	probably damaging	Het
Frem3	A	T	8: 81,339,764 (GRCm39)	I686F	probably benign	Het
Frem3	T	C	8: 81,339,339 (GRCm39)	L544P	probably damaging	Het
Gabra1	T	C	11: 42,031,177 (GRCm39)	Y251C	probably benign	Het
Gemin4	G	T	11: 76,101,987 (GRCm39)	Q925K	probably benign	Het
Gm18856	T	A	13: 14,139,274 (GRCm39)		probably benign	Het
Gnb1	A	T	4: 155,636,171 (GRCm39)	T164S	probably benign	Het
Gpx6	A	G	13: 21,497,822 (GRCm39)	D31G	possibly damaging	Het
Gzmd	A	C	14: 56,367,802 (GRCm39)	I157S	probably benign	Het
Il31ra	T	A	13: 112,684,000 (GRCm39)	N43I	possibly damaging	Het
Irak3	T	C	10: 120,001,035 (GRCm39)	T297A	probably benign	Het
Kank2	T	C	9: 21,685,927 (GRCm39)	D649G	probably damaging	Het
Kif3b	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	2: 153,159,382 (GRCm39)		probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl18	A	G	9: 110,275,815 (GRCm39)	F111S	probably damaging	Het
Lratd2	A	G	15: 60,695,498 (GRCm39)	C83R	probably damaging	Het
Lrp5	A	G	19: 3,697,585 (GRCm39)	S319P	possibly damaging	Het
Mettl15	T	C	2: 108,962,010 (GRCm39)		probably null	Het
Mtarc1	T	C	1: 184,534,199 (GRCm39)	E223G	probably damaging	Het
Ncoa1	T	C	12: 4,320,748 (GRCm39)	Q1107R	possibly damaging	Het
Ncoa7	T	G	10: 30,570,207 (GRCm39)	M251L	probably damaging	Het
Nos2	A	T	11: 78,847,396 (GRCm39)	M1023L	probably benign	Het
Nup107	T	C	10: 117,626,399 (GRCm39)	K25E	probably damaging	Het
Or10q1b	A	T	19: 13,682,860 (GRCm39)	Y223F	probably damaging	Het
Or52s1b	A	G	7: 102,822,193 (GRCm39)	I217T	probably damaging	Het
Or5k14	T	A	16: 58,693,261 (GRCm39)	N84I	probably damaging	Het
Or5p58	T	A	7: 107,694,493 (GRCm39)	I95F	probably damaging	Het
Or6b6	A	T	7: 106,571,190 (GRCm39)	Y120*	probably null	Het
Or6c206	T	C	10: 129,097,082 (GRCm39)	I84T	probably damaging	Het
Parm1	G	A	5: 91,742,306 (GRCm39)	E225K	possibly damaging	Het
Pdzd2	A	C	15: 12,373,047 (GRCm39)	S2363A	probably damaging	Het
Piezo1	A	G	8: 123,218,142 (GRCm39)	L1199P	probably damaging	Het
Prpsap1	A	T	11: 116,370,534 (GRCm39)	M141K	probably benign	Het
Prss29	A	T	17: 25,539,257 (GRCm39)	M1L	possibly damaging	Het
Pter	T	A	2: 12,983,417 (GRCm39)	S141T	probably benign	Het
Ptpru	A	T	4: 131,501,662 (GRCm39)	D1181E	probably damaging	Het
Rab3ip	T	A	10: 116,775,159 (GRCm39)	Q66H	probably damaging	Het
Rgs12	A	T	5: 35,178,511 (GRCm39)	T779S	probably damaging	Het
Rgs22	A	G	15: 36,048,922 (GRCm39)	F786S	probably damaging	Het
Rnasel	A	T	1: 153,636,540 (GRCm39)	D640V	possibly damaging	Het
Rp1	T	C	1: 4,415,899 (GRCm39)	T1738A	probably damaging	Het
Sacs	T	C	14: 61,447,508 (GRCm39)	S3185P	probably damaging	Het
Scnn1a	T	A	6: 125,315,856 (GRCm39)	D321E	possibly damaging	Het
Sec31b	G	C	19: 44,507,025 (GRCm39)	L1014V	probably benign	Het
Serpinb10	A	G	1: 107,468,690 (GRCm39)	Y111C	probably damaging	Het
Shld2	C	G	14: 33,990,833 (GRCm39)	Q24H	probably damaging	Het
Siglecg	A	G	7: 43,067,313 (GRCm39)	K627E	possibly damaging	Het
Sigmar1	T	C	4: 41,740,845 (GRCm39)	I95V	probably benign	Het
Sirpb1b	T	A	3: 15,613,819 (GRCm39)	T88S	possibly damaging	Het
Spire2	T	G	8: 124,084,895 (GRCm39)	L245R	probably damaging	Het
Stard9	C	A	2: 120,527,192 (GRCm39)	P1150T	probably benign	Het
Stat6	C	A	10: 127,489,125 (GRCm39)	T380N	probably damaging	Het
Sult3a1	G	A	10: 33,746,166 (GRCm39)	G162E	probably benign	Het
Tacc2	T	C	7: 130,227,149 (GRCm39)	M1278T	probably benign	Het
Tacr2	T	A	10: 62,097,106 (GRCm39)		probably null	Het
Tcaf1	A	T	6: 42,655,923 (GRCm39)	V351E	probably damaging	Het
Tmcc2	A	G	1: 132,308,718 (GRCm39)	S59P	probably damaging	Het
Tmem17	G	A	11: 22,467,266 (GRCm39)	S60N	possibly damaging	Het
Tmem63b	C	G	17: 45,989,904 (GRCm39)	R88P	possibly damaging	Het
Tmprss7	A	T	16: 45,499,753 (GRCm39)	I307N	probably benign	Het
Treml2	A	T	17: 48,609,786 (GRCm39)	T73S	possibly damaging	Het
Trrap	A	G	5: 144,774,012 (GRCm39)	H2876R	possibly damaging	Het
Tyw3	A	G	3: 154,302,506 (GRCm39)	I53T	probably damaging	Het
Ugp2	A	G	11: 21,283,791 (GRCm39)	I92T	possibly damaging	Het
Vmn2r66	A	T	7: 84,644,166 (GRCm39)	M748K	possibly damaging	Het
Vmn2r82	T	C	10: 79,192,578 (GRCm39)	S52P	possibly damaging	Het
Wdr37	A	T	13: 8,886,828 (GRCm39)	S320T	probably benign	Het
Zbtb16	A	T	9: 48,743,583 (GRCm39)	M243K	probably benign	Het
Zfr	C	T	15: 12,150,329 (GRCm39)	T432I	possibly damaging	Het

Other mutations in Surf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02626:Surf4	APN	2	26,815,619 (GRCm39)	critical splice donor site	probably null
R1448:Surf4	UTSW	2	26,814,476 (GRCm39)	missense	probably damaging	1.00
R5201:Surf4	UTSW	2	26,823,778 (GRCm39)	unclassified	probably benign
R5635:Surf4	UTSW	2	26,823,325 (GRCm39)	missense	probably benign	0.11
R6249:Surf4	UTSW	2	26,816,899 (GRCm39)	missense	probably damaging	1.00
R7413:Surf4	UTSW	2	26,814,455 (GRCm39)	missense	probably benign	0.03
R9588:Surf4	UTSW	2	26,823,622 (GRCm39)	intron	probably benign
R9679:Surf4	UTSW	2	26,814,364 (GRCm39)	missense	probably benign	0.07
RF024:Surf4	UTSW	2	26,812,179 (GRCm39)	missense	probably benign	0.07
X0024:Surf4	UTSW	2	26,816,814 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2014-04-13