Incidental Mutation 'IGL00922:Sec14l1'
ID28521
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? Possibly non essential (E-score: 0.254) question?
Stock #IGL00922
Quality Score
Status
Chromosome11
Chromosomal Location117115168-117159268 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 117153229 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 521 (T521M)
Ref Sequence ENSEMBL: ENSMUSP00000099315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021177] [ENSMUST00000090433] [ENSMUST00000103026]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021177
AA Change: T521M

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021177
Gene: ENSMUSG00000020823
AA Change: T521M

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 possibly damaging
Transcript: ENSMUST00000090433
AA Change: T521M

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000087916
Gene: ENSMUSG00000020823
AA Change: T521M

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 possibly damaging
Transcript: ENSMUST00000103026
AA Change: T521M

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099315
Gene: ENSMUSG00000020823
AA Change: T521M

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153437
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016L21Rik T C 5: 114,947,177 probably null Het
Atr T A 9: 95,907,345 M1518K probably damaging Het
Baiap2l1 C T 5: 144,318,967 G59D probably damaging Het
BC051019 C A 7: 109,720,676 C60F probably benign Het
Brms1l A G 12: 55,845,326 Y135C probably benign Het
Cachd1 T A 4: 100,966,966 S535T probably benign Het
Ccdc155 T C 7: 45,185,306 E532G possibly damaging Het
Chkb C T 15: 89,422,288 probably null Het
Coa7 G T 4: 108,338,308 G145C possibly damaging Het
Cobl T A 11: 12,254,866 D605V probably damaging Het
Ddx54 T A 5: 120,623,810 probably null Het
Dnah6 A T 6: 73,033,526 probably benign Het
Dnaja2 A T 8: 85,555,237 V4E probably damaging Het
Dnajc22 T G 15: 99,101,579 L215R possibly damaging Het
Drc7 G A 8: 95,077,978 V874I probably benign Het
Foxa2 A C 2: 148,044,818 S26A possibly damaging Het
Gal A T 19: 3,411,575 V70E probably benign Het
Gjb4 T C 4: 127,351,353 Y265C probably benign Het
Hc A G 2: 34,991,668 S1423P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Map3k6 C T 4: 133,243,044 probably benign Het
Matn1 A T 4: 130,952,974 Q454L probably benign Het
Mlxip A T 5: 123,440,065 N148I probably damaging Het
Mre11a T C 9: 14,799,588 F193L probably damaging Het
Myo1h T C 5: 114,360,485 Y881H probably damaging Het
Nphp4 C T 4: 152,537,309 probably benign Het
Olfr803 T G 10: 129,691,454 I196L probably benign Het
Ptpn13 T A 5: 103,588,088 V2151D probably damaging Het
Rnf141 T C 7: 110,833,734 probably benign Het
Rpe65 A C 3: 159,614,542 D277A probably damaging Het
Slc25a30 A T 14: 75,769,598 Y153N probably damaging Het
Slc6a12 C T 6: 121,360,455 A366V probably damaging Het
Trp53bp1 T A 2: 121,208,482 T1367S probably damaging Het
Vmn2r71 T G 7: 85,618,693 S118R probably benign Het
Other mutations in Sec14l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01559:Sec14l1 APN 11 117143284 splice site probably null
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
X0066:Sec14l1 UTSW 11 117143943 missense probably benign
X0067:Sec14l1 UTSW 11 117117168 start gained probably benign
Posted On2013-04-17