Incidental Mutation 'R5808:Sec23ip'
ID 448839
Institutional Source Beutler Lab
Gene Symbol Sec23ip
Ensembl Gene ENSMUSG00000055319
Gene Name Sec23 interacting protein
Synonyms p125, D7Ertd373e
Accession Numbers
Essential gene? Possibly essential (E-score: 0.583) question?
Stock # R5808 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 128346667-128386560 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 128373908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 710 (A710E)
Ref Sequence ENSEMBL: ENSMUSP00000035610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042942]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000042942
AA Change: A710E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035610
Gene: ENSMUSG00000055319
AA Change: A710E

DomainStartEndE-ValueType
low complexity region 8 26 N/A INTRINSIC
low complexity region 41 51 N/A INTRINSIC
low complexity region 79 88 N/A INTRINSIC
low complexity region 203 215 N/A INTRINSIC
low complexity region 222 230 N/A INTRINSIC
Blast:DDHD 513 585 8e-33 BLAST
SAM 637 702 2.18e-9 SMART
DDHD 777 987 1.33e-74 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104095
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Male mice homozygous for a null allele display reduced fertility with globozoospermia and impaired fertilization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C T 10: 76,286,482 (GRCm39) R6W probably damaging Het
Ahnak T A 19: 8,987,599 (GRCm39) V2961E possibly damaging Het
Aldh1a7 A T 19: 20,685,561 (GRCm39) Y330N possibly damaging Het
Bag6 A G 17: 35,365,298 (GRCm39) Y1041C probably damaging Het
Baz1b T A 5: 135,250,812 (GRCm39) V866E probably benign Het
Bmpr2 A T 1: 59,906,560 (GRCm39) Y551F probably benign Het
Cage1 A G 13: 38,206,301 (GRCm39) probably benign Het
Caskin2 G T 11: 115,692,589 (GRCm39) P732Q probably damaging Het
Cbfa2t2 T C 2: 154,359,746 (GRCm39) probably null Het
Ccdc162 A T 10: 41,531,500 (GRCm39) M502K possibly damaging Het
Cfap157 T C 2: 32,670,657 (GRCm39) D197G probably damaging Het
CN725425 T A 15: 91,129,847 (GRCm39) S237T probably benign Het
Defb40 T C 8: 19,025,095 (GRCm39) H37R probably benign Het
Dis3l2 A C 1: 86,977,360 (GRCm39) S836R possibly damaging Het
Dnah14 T C 1: 181,568,724 (GRCm39) I2818T possibly damaging Het
Dpysl2 T A 14: 67,102,621 (GRCm39) probably null Het
Dsc1 A T 18: 20,219,886 (GRCm39) C761* probably null Het
Dsg1b A T 18: 20,541,782 (GRCm39) D763V probably damaging Het
Eif2ak1 C T 5: 143,820,812 (GRCm39) P251L probably benign Het
Epha6 A T 16: 59,503,105 (GRCm39) I934K probably damaging Het
Fbxo40 T C 16: 36,790,744 (GRCm39) E122G probably damaging Het
Filip1 C T 9: 79,725,983 (GRCm39) G879R possibly damaging Het
Frem2 A T 3: 53,559,984 (GRCm39) F1508I probably damaging Het
Gja1 A G 10: 56,264,594 (GRCm39) N318D probably benign Het
Gm11564 T C 11: 99,705,867 (GRCm39) S188G unknown Het
Hlcs A G 16: 94,063,491 (GRCm39) V523A probably benign Het
Kif1a C A 1: 92,970,420 (GRCm39) E1041D probably damaging Het
Lamtor1 A G 7: 101,559,289 (GRCm39) Y81C possibly damaging Het
Loxl1 A G 9: 58,201,732 (GRCm39) L453S probably damaging Het
Mcf2l A G 8: 13,043,937 (GRCm39) M1V probably null Het
Megf6 A G 4: 154,352,119 (GRCm39) Q1208R probably benign Het
Morc2a T A 11: 3,633,781 (GRCm39) I631N probably benign Het
Muc6 T C 7: 141,226,360 (GRCm39) probably benign Het
Mybpc1 T C 10: 88,406,428 (GRCm39) S139G possibly damaging Het
Myo18a T C 11: 77,720,127 (GRCm39) F1017L probably benign Het
Nup62 A C 7: 44,479,416 (GRCm39) Q477P possibly damaging Het
P2ry13 T A 3: 59,117,653 (GRCm39) I42F probably benign Het
Ptprb G A 10: 116,175,392 (GRCm39) R1129K probably benign Het
Rexo4 T A 2: 26,854,197 (GRCm39) K45I probably damaging Het
Rnf213 G A 11: 119,327,121 (GRCm39) V1703I probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Slc41a2 T C 10: 83,149,362 (GRCm39) T194A probably benign Het
Slc4a10 G A 2: 62,080,816 (GRCm39) A348T probably damaging Het
Soat2 G A 15: 102,062,460 (GRCm39) probably null Het
Srms T C 2: 180,850,548 (GRCm39) S204G probably benign Het
Szt2 G A 4: 118,229,810 (GRCm39) R2774C unknown Het
Tcf7l2 T C 19: 55,896,973 (GRCm39) V182A probably damaging Het
Tmem167b C T 3: 108,467,559 (GRCm39) R29H probably benign Het
Trappc12 T A 12: 28,796,863 (GRCm39) D223V probably damaging Het
Ttc6 T A 12: 57,664,397 (GRCm39) S383R possibly damaging Het
Ubr1 C T 2: 120,791,573 (GRCm39) R137H possibly damaging Het
Vmn2r24 T A 6: 123,792,597 (GRCm39) C641* probably null Het
Vrk3 A G 7: 44,409,298 (GRCm39) D155G probably damaging Het
Xxylt1 T C 16: 30,869,503 (GRCm39) Y199C probably damaging Het
Zbtb46 A T 2: 181,065,363 (GRCm39) D262E probably benign Het
Zcchc9 A T 13: 91,948,766 (GRCm39) S58T probably benign Het
Zfp747l1 A T 7: 126,984,085 (GRCm39) probably benign Het
Zfyve16 A T 13: 92,631,563 (GRCm39) L1344* probably null Het
Other mutations in Sec23ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:Sec23ip APN 7 128,369,333 (GRCm39) missense probably damaging 1.00
IGL01347:Sec23ip APN 7 128,364,129 (GRCm39) missense probably benign 0.08
IGL01358:Sec23ip APN 7 128,354,521 (GRCm39) missense possibly damaging 0.68
IGL01656:Sec23ip APN 7 128,351,969 (GRCm39) missense probably damaging 1.00
IGL01835:Sec23ip APN 7 128,357,035 (GRCm39) splice site probably null
IGL02233:Sec23ip APN 7 128,380,903 (GRCm39) missense probably damaging 1.00
IGL02499:Sec23ip APN 7 128,378,640 (GRCm39) missense probably damaging 1.00
IGL03381:Sec23ip APN 7 128,352,029 (GRCm39) missense probably damaging 0.97
R0053:Sec23ip UTSW 7 128,346,891 (GRCm39) missense probably damaging 1.00
R0147:Sec23ip UTSW 7 128,380,775 (GRCm39) splice site probably benign
R0360:Sec23ip UTSW 7 128,363,129 (GRCm39) splice site probably benign
R1427:Sec23ip UTSW 7 128,378,609 (GRCm39) missense probably damaging 0.99
R1442:Sec23ip UTSW 7 128,378,510 (GRCm39) missense probably benign 0.10
R1462:Sec23ip UTSW 7 128,367,862 (GRCm39) missense probably benign
R1462:Sec23ip UTSW 7 128,367,862 (GRCm39) missense probably benign
R1564:Sec23ip UTSW 7 128,368,005 (GRCm39) splice site probably null
R1876:Sec23ip UTSW 7 128,354,575 (GRCm39) missense probably benign
R1966:Sec23ip UTSW 7 128,357,077 (GRCm39) missense probably damaging 0.98
R1977:Sec23ip UTSW 7 128,367,997 (GRCm39) missense probably damaging 1.00
R2115:Sec23ip UTSW 7 128,364,185 (GRCm39) missense probably benign 0.00
R2847:Sec23ip UTSW 7 128,355,797 (GRCm39) missense probably benign 0.00
R3958:Sec23ip UTSW 7 128,378,574 (GRCm39) missense probably benign 0.35
R3959:Sec23ip UTSW 7 128,378,574 (GRCm39) missense probably benign 0.35
R3960:Sec23ip UTSW 7 128,378,574 (GRCm39) missense probably benign 0.35
R4287:Sec23ip UTSW 7 128,379,057 (GRCm39) missense probably benign 0.37
R4510:Sec23ip UTSW 7 128,380,900 (GRCm39) missense probably damaging 1.00
R4511:Sec23ip UTSW 7 128,380,900 (GRCm39) missense probably damaging 1.00
R4612:Sec23ip UTSW 7 128,352,226 (GRCm39) nonsense probably null
R4660:Sec23ip UTSW 7 128,352,010 (GRCm39) missense probably null 0.00
R4890:Sec23ip UTSW 7 128,354,634 (GRCm39) missense probably damaging 0.98
R5287:Sec23ip UTSW 7 128,367,860 (GRCm39) missense probably benign
R5587:Sec23ip UTSW 7 128,352,151 (GRCm39) missense probably benign
R5625:Sec23ip UTSW 7 128,346,707 (GRCm39) unclassified probably benign
R5656:Sec23ip UTSW 7 128,378,508 (GRCm39) missense probably damaging 1.00
R6034:Sec23ip UTSW 7 128,351,927 (GRCm39) missense possibly damaging 0.66
R6034:Sec23ip UTSW 7 128,351,927 (GRCm39) missense possibly damaging 0.66
R6145:Sec23ip UTSW 7 128,380,208 (GRCm39) missense probably damaging 0.99
R6747:Sec23ip UTSW 7 128,354,573 (GRCm39) synonymous silent
R6953:Sec23ip UTSW 7 128,354,520 (GRCm39) nonsense probably null
R6992:Sec23ip UTSW 7 128,367,164 (GRCm39) missense probably benign
R7131:Sec23ip UTSW 7 128,381,364 (GRCm39) missense probably damaging 1.00
R7163:Sec23ip UTSW 7 128,364,257 (GRCm39) critical splice donor site probably null
R7387:Sec23ip UTSW 7 128,346,727 (GRCm39) unclassified probably benign
R7559:Sec23ip UTSW 7 128,379,074 (GRCm39) missense possibly damaging 0.65
R7975:Sec23ip UTSW 7 128,364,201 (GRCm39) missense probably damaging 1.00
R8158:Sec23ip UTSW 7 128,369,364 (GRCm39) missense probably damaging 0.99
R8337:Sec23ip UTSW 7 128,365,749 (GRCm39) missense probably damaging 1.00
R8409:Sec23ip UTSW 7 128,365,855 (GRCm39) missense probably damaging 1.00
R8418:Sec23ip UTSW 7 128,380,187 (GRCm39) missense probably damaging 0.98
R8434:Sec23ip UTSW 7 128,352,151 (GRCm39) missense probably benign
R8461:Sec23ip UTSW 7 128,373,926 (GRCm39) missense probably benign
R8553:Sec23ip UTSW 7 128,355,777 (GRCm39) missense probably damaging 1.00
R8897:Sec23ip UTSW 7 128,354,467 (GRCm39) missense probably benign 0.14
R9059:Sec23ip UTSW 7 128,365,805 (GRCm39) missense probably damaging 1.00
R9142:Sec23ip UTSW 7 128,363,226 (GRCm39) missense probably damaging 1.00
R9674:Sec23ip UTSW 7 128,380,187 (GRCm39) missense probably damaging 0.98
Predicted Primers
Posted On 2016-12-15