Incidental Mutation 'R9598:Sec14l1'
ID 723405
Institutional Source Beutler Lab
Gene Symbol Sec14l1
Ensembl Gene ENSMUSG00000020823
Gene Name SEC14-like lipid binding 1
Synonyms 2810012L19Rik, 1200017E04Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9598 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 117005994-117050094 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 117044102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 537 (E537K)
Ref Sequence ENSEMBL: ENSMUSP00000021177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021177] [ENSMUST00000090433] [ENSMUST00000103026]
AlphaFold A8Y5H7
Predicted Effect probably damaging
Transcript: ENSMUST00000021177
AA Change: E537K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021177
Gene: ENSMUSG00000020823
AA Change: E537K

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 damaging
Transcript: ENSMUST00000090433
AA Change: E537K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087916
Gene: ENSMUSG00000020823
AA Change: E537K

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 damaging
Transcript: ENSMUST00000103026
AA Change: E537K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099315
Gene: ENSMUSG00000020823
AA Change: E537K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,088,604 (GRCm39) I302V probably benign Het
Ackr2 A C 9: 121,737,657 (GRCm39) T11P possibly damaging Het
Ahnak A G 19: 8,981,149 (GRCm39) N811S probably benign Het
Atm T C 9: 53,431,381 (GRCm39) I326V probably benign Het
Ccn4 T A 15: 66,784,764 (GRCm39) C146S possibly damaging Het
Cdh23 A T 10: 60,214,574 (GRCm39) F1480L probably benign Het
Celsr2 T C 3: 108,322,578 (GRCm39) E78G possibly damaging Het
Ces1f A T 8: 93,983,494 (GRCm39) N504K probably benign Het
Chrna4 G A 2: 180,679,264 (GRCm39) S61L probably damaging Het
Clcn3 G T 8: 61,366,061 (GRCm39) T864K unknown Het
Cym A C 3: 107,126,941 (GRCm39) D71E possibly damaging Het
Ddx19b T C 8: 111,747,673 (GRCm39) D87G probably benign Het
Dnah7b T C 1: 46,292,621 (GRCm39) V3002A possibly damaging Het
Dnmt3a G A 12: 3,946,997 (GRCm39) G408S probably benign Het
Dock10 A T 1: 80,625,939 (GRCm39) D66E probably benign Het
Dsg3 A G 18: 20,672,789 (GRCm39) D820G probably damaging Het
Dst G A 1: 34,153,014 (GRCm39) V92I possibly damaging Het
Dusp16 T A 6: 134,695,185 (GRCm39) T549S probably benign Het
Ephx1 T A 1: 180,827,381 (GRCm39) K91* probably null Het
Flii A G 11: 60,617,991 (GRCm39) F9L probably benign Het
Fmn2 T C 1: 174,436,308 (GRCm39) S760P unknown Het
Fmnl3 A T 15: 99,223,210 (GRCm39) V378E probably damaging Het
Gbp4 A G 5: 105,284,740 (GRCm39) S50P probably damaging Het
Glra3 G T 8: 56,393,718 (GRCm39) probably benign Het
Gm10188 T C 1: 132,157,033 (GRCm39) D111G unknown Het
Gnptab A T 10: 88,247,876 (GRCm39) E101V probably damaging Het
Hacl1 C A 14: 31,332,197 (GRCm39) M525I probably benign Het
Hid1 T A 11: 115,239,738 (GRCm39) T731S probably damaging Het
Ifi203 T C 1: 173,751,522 (GRCm39) Y847C probably damaging Het
Igfbpl1 C A 4: 45,815,472 (GRCm39) L221F probably null Het
Ighv1-12 A G 12: 114,579,757 (GRCm39) Y22H probably benign Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
L3mbtl4 T A 17: 68,866,767 (GRCm39) H335Q probably benign Het
Mapre2 A G 18: 24,016,707 (GRCm39) D287G probably benign Het
Mfsd14b G A 13: 65,214,522 (GRCm39) R477W probably benign Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Msh4 A T 3: 153,607,148 (GRCm39) S131T possibly damaging Het
Nat8f2 A T 6: 85,844,848 (GRCm39) D171E probably benign Het
Ndufb5 G T 3: 32,795,881 (GRCm39) L24F probably benign Het
Nkain2 T C 10: 32,278,291 (GRCm39) I45V probably damaging Het
Nlrp9b T G 7: 19,753,302 (GRCm39) M69R probably benign Het
Or4k37 A T 2: 111,159,633 (GRCm39) R290* probably null Het
Or5d39 A C 2: 87,979,935 (GRCm39) C143G probably damaging Het
Or5d46 A T 2: 88,170,821 (GRCm39) K304I possibly damaging Het
Oxct2b T A 4: 123,010,413 (GRCm39) V111E possibly damaging Het
Parva T A 7: 112,187,753 (GRCm39) V350D probably damaging Het
Pcdhb7 A G 18: 37,475,434 (GRCm39) D190G probably damaging Het
Pik3c2b T C 1: 133,012,725 (GRCm39) probably null Het
Plcz1 T A 6: 139,985,484 (GRCm39) Q19L possibly damaging Het
Prag1 A G 8: 36,571,069 (GRCm39) N551D probably benign Het
Rb1cc1 G A 1: 6,310,189 (GRCm39) V196I probably damaging Het
Rnf113a2 T C 12: 84,464,270 (GRCm39) V54A probably benign Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Shtn1 T A 19: 59,026,735 (GRCm39) I119F probably damaging Het
Szt2 A G 4: 118,266,358 (GRCm39) probably null Het
Tasp1 T C 2: 139,819,567 (GRCm39) D212G probably benign Het
Tmpo A G 10: 90,994,608 (GRCm39) probably null Het
Usp17lb T C 7: 104,489,718 (GRCm39) K403R probably benign Het
Vcpip1 A G 1: 9,816,019 (GRCm39) V788A probably benign Het
Wdr25 C A 12: 108,864,613 (GRCm39) H253N probably benign Het
Wwc2 G A 8: 48,328,360 (GRCm39) S367L probably damaging Het
Zfr A G 15: 12,162,292 (GRCm39) E814G probably damaging Het
Other mutations in Sec14l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Sec14l1 APN 11 117,044,055 (GRCm39) missense possibly damaging 0.95
IGL01559:Sec14l1 APN 11 117,034,110 (GRCm39) splice site probably null
IGL02053:Sec14l1 APN 11 117,047,738 (GRCm39) splice site probably benign
IGL02355:Sec14l1 APN 11 117,035,675 (GRCm39) missense possibly damaging 0.50
IGL02362:Sec14l1 APN 11 117,035,675 (GRCm39) missense possibly damaging 0.50
IGL02956:Sec14l1 APN 11 117,043,973 (GRCm39) missense probably benign
PIT1430001:Sec14l1 UTSW 11 117,034,629 (GRCm39) missense probably damaging 1.00
R0010:Sec14l1 UTSW 11 117,034,596 (GRCm39) splice site probably benign
R0130:Sec14l1 UTSW 11 117,047,233 (GRCm39) missense possibly damaging 0.93
R0241:Sec14l1 UTSW 11 117,037,924 (GRCm39) splice site probably benign
R0321:Sec14l1 UTSW 11 117,041,568 (GRCm39) splice site probably benign
R0377:Sec14l1 UTSW 11 117,039,966 (GRCm39) splice site probably benign
R1600:Sec14l1 UTSW 11 117,041,430 (GRCm39) missense probably benign 0.34
R2120:Sec14l1 UTSW 11 117,039,358 (GRCm39) splice site probably benign
R2163:Sec14l1 UTSW 11 117,034,108 (GRCm39) splice site probably null
R2266:Sec14l1 UTSW 11 117,047,314 (GRCm39) missense probably damaging 0.98
R4059:Sec14l1 UTSW 11 117,040,024 (GRCm39) missense possibly damaging 0.51
R6501:Sec14l1 UTSW 11 117,047,676 (GRCm39) missense probably damaging 0.97
R6900:Sec14l1 UTSW 11 117,008,049 (GRCm39) missense probably damaging 0.98
R6989:Sec14l1 UTSW 11 117,047,220 (GRCm39) missense probably damaging 0.99
R8307:Sec14l1 UTSW 11 117,034,242 (GRCm39) critical splice donor site probably null
R9258:Sec14l1 UTSW 11 117,041,002 (GRCm39) missense probably benign 0.25
R9670:Sec14l1 UTSW 11 117,046,058 (GRCm39) missense possibly damaging 0.55
X0066:Sec14l1 UTSW 11 117,034,769 (GRCm39) missense probably benign
X0067:Sec14l1 UTSW 11 117,007,994 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TTCTCAGCTACTCCAGGAGG -3'
(R):5'- CTGCTTTCAAAATGCTCTGGGC -3'

Sequencing Primer
(F):5'- CCAGGAGGTGGGTATGGG -3'
(R):5'- CAGACAGGTGTCCTTCCGAG -3'
Posted On 2022-08-09