Incidental Mutation 'R0226:Sec14l5'
ID 33961
Institutional Source Beutler Lab
Gene Symbol Sec14l5
Ensembl Gene ENSMUSG00000091712
Gene Name SEC14-like lipid binding 5
Synonyms
MMRRC Submission 038471-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R0226 (G1)
Quality Score 222
Status Validated
Chromosome 16
Chromosomal Location 4964973-5005135 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4998167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 509 (S509G)
Ref Sequence ENSEMBL: ENSMUSP00000155164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165810] [ENSMUST00000230616]
AlphaFold B2RXM5
Predicted Effect probably benign
Transcript: ENSMUST00000165810
AA Change: S509G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000128063
Gene: ENSMUSG00000091712
AA Change: S509G

DomainStartEndE-ValueType
Pfam:PRELI 17 173 4.2e-52 PFAM
CRAL_TRIO_N 263 288 1.05e-4 SMART
SEC14 306 479 1.59e-58 SMART
low complexity region 496 510 N/A INTRINSIC
low complexity region 671 695 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000230616
AA Change: S509G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0604 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 100% (98/98)
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G T 14: 59,379,569 (GRCm39) T54K possibly damaging Het
2210408I21Rik A T 13: 77,451,544 (GRCm39) E876V possibly damaging Het
Aasdh A T 5: 77,049,849 (GRCm39) L49Q probably damaging Het
Abca8b T C 11: 109,847,844 (GRCm39) probably null Het
Ablim1 A T 19: 57,032,302 (GRCm39) L556Q probably damaging Het
Afdn A G 17: 14,119,408 (GRCm39) T1700A probably benign Het
Agl G A 3: 116,545,720 (GRCm39) R1359C probably damaging Het
Agpat3 T A 10: 78,113,863 (GRCm39) H275L possibly damaging Het
Ahcyl1 A T 3: 107,577,586 (GRCm39) C180* probably null Het
Aim2 A G 1: 173,289,899 (GRCm39) probably benign Het
Angpt1 T C 15: 42,331,631 (GRCm39) N320S probably benign Het
Ankrd52 T A 10: 128,225,727 (GRCm39) probably null Het
Ap1g1 C T 8: 110,581,694 (GRCm39) S654L probably benign Het
Bpifa1 T A 2: 153,987,977 (GRCm39) S173R probably benign Het
Brd8 T C 18: 34,736,947 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
C1qtnf2 A G 11: 43,381,670 (GRCm39) T161A probably benign Het
Car6 T C 4: 150,271,965 (GRCm39) Y228C probably damaging Het
Ccdc149 A G 5: 52,557,559 (GRCm39) L273P probably damaging Het
Cit G A 5: 116,122,899 (GRCm39) R1405Q probably damaging Het
Cox17 T C 16: 38,169,638 (GRCm39) L48P probably damaging Het
Cttn A G 7: 143,995,589 (GRCm39) probably benign Het
Cyp4f18 T C 8: 72,743,619 (GRCm39) probably benign Het
Dtnbp1 A G 13: 45,076,669 (GRCm39) L175P probably damaging Het
Efl1 T C 7: 82,342,219 (GRCm39) probably benign Het
Fbn1 C T 2: 125,162,830 (GRCm39) R2152Q possibly damaging Het
Fignl1 A T 11: 11,751,061 (GRCm39) S665T probably benign Het
Gm9843 A T 16: 76,200,449 (GRCm39) noncoding transcript Het
Gpr155 C T 2: 73,197,936 (GRCm39) V395I probably benign Het
Greb1l T C 18: 10,522,076 (GRCm39) probably benign Het
Hdgfl1 A T 13: 26,953,979 (GRCm39) H31Q probably benign Het
Heatr1 T C 13: 12,425,443 (GRCm39) S628P probably damaging Het
Hivep2 A G 10: 14,005,456 (GRCm39) T685A probably benign Het
Hmgcl T G 4: 135,686,039 (GRCm39) V168G probably damaging Het
Itch T C 2: 155,041,314 (GRCm39) I454T probably benign Het
Itih2 T C 2: 10,120,110 (GRCm39) D309G possibly damaging Het
Kcmf1 T C 6: 72,819,935 (GRCm39) I304V probably benign Het
Kcnh1 G A 1: 191,959,112 (GRCm39) W222* probably null Het
Kcnh1 G T 1: 191,959,113 (GRCm39) W222C probably damaging Het
Kif24 T A 4: 41,414,939 (GRCm39) K287* probably null Het
Lrig3 A G 10: 125,807,986 (GRCm39) probably benign Het
Lrp2 A T 2: 69,367,907 (GRCm39) C202S probably null Het
Lrrc37 A T 11: 103,494,067 (GRCm39) F663L probably benign Het
Lrrn2 A G 1: 132,865,558 (GRCm39) N208D probably damaging Het
Mcm5 C T 8: 75,852,880 (GRCm39) T664I possibly damaging Het
Mfsd10 A G 5: 34,791,790 (GRCm39) L365S probably benign Het
Mfsd6 A G 1: 52,697,849 (GRCm39) probably benign Het
Mgat4e A G 1: 134,468,841 (GRCm39) V401A probably benign Het
Mllt3 C A 4: 87,758,969 (GRCm39) V360L probably benign Het
Mrm1 G A 11: 84,709,996 (GRCm39) A68V possibly damaging Het
Myo19 A G 11: 84,788,558 (GRCm39) probably benign Het
Myo3b A G 2: 70,047,510 (GRCm39) T311A probably benign Het
Myo5b T C 18: 74,875,251 (GRCm39) F1552L probably benign Het
Myo7b C T 18: 32,105,949 (GRCm39) V1353I probably benign Het
Myo9b T C 8: 71,806,476 (GRCm39) S1512P probably damaging Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Osbpl3 A G 6: 50,329,988 (GRCm39) W63R probably damaging Het
Pcdh17 T C 14: 84,685,641 (GRCm39) S703P probably damaging Het
Pclo T C 5: 14,815,237 (GRCm39) I1231T probably damaging Het
Pex16 A C 2: 92,206,032 (GRCm39) probably benign Het
Pfkl T C 10: 77,828,368 (GRCm39) N399S probably benign Het
Pkhd1l1 G A 15: 44,390,180 (GRCm39) R1432K possibly damaging Het
Prdm1 T A 10: 44,332,692 (GRCm39) T106S probably benign Het
Prrc1 A G 18: 57,496,363 (GRCm39) M105V probably benign Het
Psg26 A G 7: 18,217,883 (GRCm39) C12R possibly damaging Het
Rnf43 A T 11: 87,622,263 (GRCm39) S455C probably damaging Het
Ryr2 T C 13: 11,787,442 (GRCm39) K977R probably damaging Het
Sart1 C T 19: 5,431,150 (GRCm39) probably benign Het
Sin3b A T 8: 73,471,136 (GRCm39) E361V probably benign Het
Slc35e3 C T 10: 117,576,795 (GRCm39) E179K possibly damaging Het
Sntb2 T C 8: 107,728,215 (GRCm39) S388P probably damaging Het
Srms A G 2: 180,854,175 (GRCm39) S131P probably benign Het
Sting1 A T 18: 35,872,141 (GRCm39) F120L probably benign Het
Stxbp5 T C 10: 9,742,442 (GRCm39) probably benign Het
Taar2 T C 10: 23,816,961 (GRCm39) V167A probably damaging Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Thsd7a A G 6: 12,321,899 (GRCm39) Y1516H possibly damaging Het
Tlk1 T A 2: 70,544,513 (GRCm39) probably benign Het
Tnfaip3 T C 10: 18,878,495 (GRCm39) K771R probably damaging Het
Treml1 C T 17: 48,667,486 (GRCm39) L124F probably damaging Het
Ttn G T 2: 76,611,141 (GRCm39) Q9137K possibly damaging Het
Unkl T A 17: 25,449,685 (GRCm39) I469N probably damaging Het
Vmn1r173 G T 7: 23,402,508 (GRCm39) V248L possibly damaging Het
Vps35 T C 8: 86,000,204 (GRCm39) Q474R probably damaging Het
Wdr17 T A 8: 55,116,043 (GRCm39) T580S probably benign Het
Xpnpep1 T C 19: 52,998,583 (GRCm39) K222E probably benign Het
Ylpm1 A G 12: 85,096,511 (GRCm39) T1446A probably benign Het
Zfp277 A G 12: 40,414,161 (GRCm39) L228S possibly damaging Het
Zfp941 T A 7: 140,393,188 (GRCm39) K57M probably damaging Het
Zmpste24 A T 4: 120,938,406 (GRCm39) S244R probably benign Het
Other mutations in Sec14l5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01771:Sec14l5 APN 16 4,996,494 (GRCm39) critical splice donor site probably null
R0333:Sec14l5 UTSW 16 4,984,930 (GRCm39) missense probably damaging 1.00
R0370:Sec14l5 UTSW 16 4,998,570 (GRCm39) missense probably damaging 1.00
R0581:Sec14l5 UTSW 16 4,996,349 (GRCm39) splice site probably null
R2109:Sec14l5 UTSW 16 4,984,968 (GRCm39) nonsense probably null
R2230:Sec14l5 UTSW 16 4,994,345 (GRCm39) missense probably damaging 1.00
R2944:Sec14l5 UTSW 16 4,998,697 (GRCm39) missense probably benign 0.05
R3001:Sec14l5 UTSW 16 4,989,746 (GRCm39) missense probably damaging 1.00
R3002:Sec14l5 UTSW 16 4,989,746 (GRCm39) missense probably damaging 1.00
R3409:Sec14l5 UTSW 16 4,983,518 (GRCm39) splice site probably null
R3432:Sec14l5 UTSW 16 4,996,463 (GRCm39) missense possibly damaging 0.55
R3913:Sec14l5 UTSW 16 4,965,720 (GRCm39) splice site probably benign
R4941:Sec14l5 UTSW 16 4,994,364 (GRCm39) missense probably damaging 1.00
R5468:Sec14l5 UTSW 16 4,985,004 (GRCm39) splice site probably null
R5474:Sec14l5 UTSW 16 4,996,382 (GRCm39) missense possibly damaging 0.74
R5871:Sec14l5 UTSW 16 4,986,717 (GRCm39) missense probably benign 0.00
R6226:Sec14l5 UTSW 16 4,994,429 (GRCm39) missense probably damaging 0.99
R6315:Sec14l5 UTSW 16 4,998,141 (GRCm39) missense possibly damaging 0.81
R6333:Sec14l5 UTSW 16 4,984,908 (GRCm39) missense probably benign 0.00
R6360:Sec14l5 UTSW 16 4,990,859 (GRCm39) missense probably damaging 0.99
R7426:Sec14l5 UTSW 16 4,998,739 (GRCm39) missense probably damaging 1.00
R8905:Sec14l5 UTSW 16 4,994,364 (GRCm39) missense probably damaging 1.00
X0064:Sec14l5 UTSW 16 4,993,966 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACCCGAGAAGAGTGCATCTTACCC -3'
(R):5'- CTGCAATCATCCCATGTCCCAGAG -3'

Sequencing Primer
(F):5'- aagagtgcatcttaccctgcTATC -3'
(R):5'- CCCAGAGCTTCTTGGATAGAG -3'
Posted On 2013-05-09