Incidental Mutation 'IGL01559:Sec14l1'
ID90805
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec14l1
Ensembl Gene ENSMUSG00000020823
Gene NameSEC14-like lipid binding 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01559
Quality Score
Status
Chromosome11
Chromosomal Location117115168-117159268 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 117143284 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021177] [ENSMUST00000090433] [ENSMUST00000103026]
Predicted Effect probably null
Transcript: ENSMUST00000021177
SMART Domains Protein: ENSMUSP00000021177
Gene: ENSMUSG00000020823

DomainStartEndE-ValueType
Pfam:PRELI 17 173 5.3e-57 PFAM
CRAL_TRIO_N 276 301 4.83e-4 SMART
SEC14 319 492 5.13e-53 SMART
low complexity region 695 711 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000090433
SMART Domains Protein: ENSMUSP00000087916
Gene: ENSMUSG00000020823

DomainStartEndE-ValueType
Pfam:PRELI 17 173 7.9e-57 PFAM
CRAL_TRIO_N 276 301 4.83e-4 SMART
SEC14 319 492 5.13e-53 SMART
low complexity region 695 711 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000103026
SMART Domains Protein: ENSMUSP00000099315
Gene: ENSMUSG00000020823

DomainStartEndE-ValueType
Pfam:PRELI 17 173 5.4e-57 PFAM
CRAL_TRIO_N 276 301 4.83e-4 SMART
SEC14 319 492 5.13e-53 SMART
low complexity region 695 715 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127090
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,309,020 N2915K possibly damaging Het
Abca5 T C 11: 110,272,526 N1621S probably benign Het
Asb18 G A 1: 89,954,450 S122F probably damaging Het
Atg4c A G 4: 99,218,203 probably benign Het
Bbs7 T C 3: 36,594,510 Y363C probably damaging Het
Celsr2 T C 3: 108,406,867 T1281A possibly damaging Het
Cers1 A G 8: 70,323,233 N295S probably damaging Het
Csn1s2b A T 5: 87,820,951 K80* probably null Het
Dennd6a A G 14: 26,608,565 D97G probably damaging Het
Dmxl1 A G 18: 49,920,938 Y2537C probably damaging Het
Dnah6 A G 6: 73,024,252 probably null Het
Exoc4 A G 6: 33,266,076 T75A probably damaging Het
Fbll1 T C 11: 35,797,545 E297G probably damaging Het
Gm10642 T A 9: 70,656,592 D152V probably damaging Het
Hdac3 A G 18: 37,943,672 probably benign Het
Kif17 A G 4: 138,293,769 I850V probably damaging Het
Olfr166 T C 16: 19,487,459 L207P probably benign Het
Pi4kb T A 3: 94,984,129 L52Q probably benign Het
Slc28a2 T A 2: 122,454,540 H336Q probably damaging Het
Usp17lb A G 7: 104,841,229 S164P probably damaging Het
Other mutations in Sec14l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Sec14l1 APN 11 117153229 missense possibly damaging 0.95
IGL02053:Sec14l1 APN 11 117156912 splice site probably benign
IGL02355:Sec14l1 APN 11 117144849 missense possibly damaging 0.50
IGL02362:Sec14l1 APN 11 117144849 missense possibly damaging 0.50
IGL02956:Sec14l1 APN 11 117153147 missense probably benign
PIT1430001:Sec14l1 UTSW 11 117143803 missense probably damaging 1.00
R0010:Sec14l1 UTSW 11 117143770 splice site probably benign
R0130:Sec14l1 UTSW 11 117156407 missense possibly damaging 0.93
R0241:Sec14l1 UTSW 11 117147098 splice site probably benign
R0321:Sec14l1 UTSW 11 117150742 splice site probably benign
R0377:Sec14l1 UTSW 11 117149140 splice site probably benign
R1600:Sec14l1 UTSW 11 117150604 missense probably benign 0.34
R2120:Sec14l1 UTSW 11 117148532 splice site probably benign
R2163:Sec14l1 UTSW 11 117143282 splice site probably null
R2266:Sec14l1 UTSW 11 117156488 missense probably damaging 0.98
R4059:Sec14l1 UTSW 11 117149198 missense possibly damaging 0.51
R6501:Sec14l1 UTSW 11 117156850 missense probably damaging 0.97
R6900:Sec14l1 UTSW 11 117117223 missense probably damaging 0.98
R6989:Sec14l1 UTSW 11 117156394 missense probably damaging 0.99
R8307:Sec14l1 UTSW 11 117143416 critical splice donor site probably null
X0066:Sec14l1 UTSW 11 117143943 missense probably benign
X0067:Sec14l1 UTSW 11 117117168 start gained probably benign
Posted On2013-12-09