Incidental Mutation 'R5201:Surf4'
ID 400749
Institutional Source Beutler Lab
Gene Symbol Surf4
Ensembl Gene ENSMUSG00000014867
Gene Name surfeit gene 4
Synonyms Surf-4
MMRRC Submission 042776-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R5201 (G1)
Quality Score 199
Status Not validated
Chromosome 2
Chromosomal Location 26810053-26823793 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 26823778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121332 (fasta)
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

DomainStartEndE-ValueType
Pfam:SURF4 4 269 5.7e-132 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000055406
SMART Domains Protein: ENSMUSP00000062967
Gene: ENSMUSG00000049897

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:SURF4 4 82 1.9e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153771
SMART Domains Protein: ENSMUSP00000121332
Gene: ENSMUSG00000049897

DomainStartEndE-ValueType
Pfam:Pkinase 4 116 2.3e-8 PFAM
Pfam:Pkinase_Tyr 6 115 4.6e-6 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000154651
AA Change: V5A
SMART Domains Protein: ENSMUSP00000125327
Gene: ENSMUSG00000014867
AA Change: V5A

DomainStartEndE-ValueType
Pfam:SURF4 16 124 2e-43 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik C A 15: 81,946,745 (GRCm39) T214N probably benign Het
Actn4 A T 7: 28,615,680 (GRCm39) probably null Het
Arap2 T C 5: 62,840,832 (GRCm39) E678G probably damaging Het
Atl2 T C 17: 80,172,580 (GRCm39) N130S probably benign Het
Cby2 A G 14: 75,821,449 (GRCm39) V101A probably damaging Het
Cyp2b10 A G 7: 25,616,419 (GRCm39) D342G probably damaging Het
Dnah6 A G 6: 73,172,715 (GRCm39) Y248H possibly damaging Het
Drd5 A T 5: 38,477,366 (GRCm39) M120L probably damaging Het
Duox1 A G 2: 122,158,403 (GRCm39) R629G probably benign Het
Dyrk1b A G 7: 27,884,521 (GRCm39) Y279C probably damaging Het
Efemp1 A T 11: 28,864,590 (GRCm39) I215L probably benign Het
Enpp6 C A 8: 47,518,486 (GRCm39) Q205K probably damaging Het
Fam170a A T 18: 50,415,193 (GRCm39) T280S probably benign Het
Fam222a G A 5: 114,749,127 (GRCm39) A108T possibly damaging Het
Fgd3 G T 13: 49,449,854 (GRCm39) P132T probably benign Het
Fzr1 A T 10: 81,203,362 (GRCm39) L399H probably damaging Het
Galnt15 G A 14: 31,771,822 (GRCm39) R289Q probably damaging Het
Hira T C 16: 18,770,865 (GRCm39) V834A probably damaging Het
Ilf3 T C 9: 21,300,679 (GRCm39) L93P probably damaging Het
Itgae G A 11: 73,001,382 (GRCm39) R71Q probably benign Het
Itprid1 T C 6: 55,944,991 (GRCm39) S571P probably benign Het
Kif14 T A 1: 136,431,145 (GRCm39) S1181T probably benign Het
Lrig3 C A 10: 125,849,020 (GRCm39) P946Q possibly damaging Het
Macf1 A T 4: 123,369,738 (GRCm39) C1674* probably null Het
Malt1 A G 18: 65,609,126 (GRCm39) K710R probably benign Het
Man1a2 A T 3: 100,524,328 (GRCm39) N373K probably benign Het
Mpped2 A G 2: 106,529,847 (GRCm39) N32S possibly damaging Het
Mrtfb A C 16: 13,219,456 (GRCm39) T701P probably benign Het
Myh10 A T 11: 68,674,021 (GRCm39) T652S probably damaging Het
Nfia A G 4: 97,999,462 (GRCm39) Y485C probably damaging Het
Olfml2b A T 1: 170,496,433 (GRCm39) T355S probably benign Het
Or10q3 A T 19: 11,847,995 (GRCm39) I195K probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh1 A T 18: 38,331,971 (GRCm39) V344D probably damaging Het
Plekhn1 C A 4: 156,314,984 (GRCm39) V558L probably benign Het
Prr14l A G 5: 32,987,591 (GRCm39) S635P possibly damaging Het
Prss46 T A 9: 110,680,543 (GRCm39) C229* probably null Het
Rad50 A G 11: 53,589,647 (GRCm39) probably null Het
Slc27a3 A T 3: 90,296,526 (GRCm39) L191Q probably benign Het
Taf3 A G 2: 9,956,995 (GRCm39) S391P probably damaging Het
Tep1 A C 14: 51,105,567 (GRCm39) L151R probably benign Het
Tmprss11d A C 5: 86,457,214 (GRCm39) N148K possibly damaging Het
Tpd52l2 G A 2: 181,156,879 (GRCm39) V172I probably benign Het
Vmn2r77 A G 7: 86,460,846 (GRCm39) D724G probably damaging Het
Wdr75 T A 1: 45,862,519 (GRCm39) D779E probably benign Het
Zfp943 A T 17: 22,211,794 (GRCm39) K293N probably damaging Het
Other mutations in Surf4
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1538:Surf4 UTSW 2 26,823,710 (GRCm39) splice site probably null
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 PCR Primer
(F):5'- TCAGGTCGTTCTGTCCCATG -3'
(R):5'- AGCATGCTCGGTAGTGACTG -3'

Sequencing Primer
(F):5'- GGCCAAGCCTTAAAGGGACC -3'
(R):5'- TAGTGACTGCTCCGTGTGCC -3'
Posted On 2016-07-06