Incidental Mutation 'IGL01656:Sec23ip'
ID103008
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec23ip
Ensembl Gene ENSMUSG00000055319
Gene NameSec23 interacting protein
SynonymsD7Ertd373e, p125
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.583) question?
Stock #IGL01656
Quality Score
Status
Chromosome7
Chromosomal Location128744943-128784836 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 128750245 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 12 (P12L)
Ref Sequence ENSEMBL: ENSMUSP00000145911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042942] [ENSMUST00000206986]
Predicted Effect probably benign
Transcript: ENSMUST00000042942
AA Change: P115L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000035610
Gene: ENSMUSG00000055319
AA Change: P115L

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 probably benign
Transcript: ENSMUST00000205856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206944
Predicted Effect probably damaging
Transcript: ENSMUST00000206986
AA Change: P12L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A G 6: 96,165,694 V123A possibly damaging Het
4732456N10Rik T A 15: 101,555,443 Q392L probably damaging Het
Acrbp A C 6: 125,053,712 E232A possibly damaging Het
Anapc11 T A 11: 120,599,347 F30I possibly damaging Het
Ap5z1 A G 5: 142,470,314 D318G probably benign Het
Cfap43 T C 19: 47,751,900 E1278G possibly damaging Het
Cylc1 A G X: 111,123,716 T589A probably benign Het
Dcaf15 T C 8: 84,097,988 I527V probably benign Het
Ddhd2 C T 8: 25,727,712 V713I probably benign Het
Edc4 T C 8: 105,886,377 V283A possibly damaging Het
Elf5 A G 2: 103,442,861 probably benign Het
Flnb C T 14: 7,902,010 probably benign Het
Flnc C T 6: 29,443,508 probably benign Het
Fstl4 T C 11: 53,000,374 L113P probably damaging Het
Gemin4 C T 11: 76,213,810 V42M probably damaging Het
Gm10076 A G 14: 105,681,920 noncoding transcript Het
Grina A G 15: 76,248,301 Y116C probably damaging Het
Hectd4 T A 5: 121,322,700 L914H probably damaging Het
Il17re T C 6: 113,462,973 probably benign Het
Ivl G A 3: 92,571,655 Q368* probably null Het
Kbtbd8 A G 6: 95,118,676 H73R probably benign Het
Magea3 A T X: 154,949,141 M122K probably damaging Het
Mapk8ip3 T C 17: 24,918,029 D237G probably damaging Het
Nln T C 13: 104,061,741 probably null Het
Nlrp4d T C 7: 10,364,147 Y853C noncoding transcript Het
Nol11 T C 11: 107,189,172 D29G probably benign Het
Nr3c2 C T 8: 77,187,537 L791F probably damaging Het
Olfm3 T C 3: 115,122,633 Y385H probably damaging Het
Olfr126 C T 17: 37,851,138 P182L possibly damaging Het
Olfr1475 G A 19: 13,480,090 A36V probably benign Het
Olfr570 A G 7: 102,901,265 I299M possibly damaging Het
Pklr G T 3: 89,144,995 G505C probably damaging Het
Plxna2 A G 1: 194,790,161 E1071G possibly damaging Het
Prkcq G T 2: 11,226,955 A30S probably damaging Het
Rilpl1 A G 5: 124,503,649 F104L probably damaging Het
Rsph6a C T 7: 19,054,845 T34I probably benign Het
Slc25a21 A C 12: 56,738,495 V199G probably damaging Het
Smc1b T C 15: 85,114,776 E483G probably damaging Het
Sucnr1 T C 3: 60,086,411 M120T possibly damaging Het
Tas2r116 T C 6: 132,855,433 probably benign Het
Tbrg4 T A 11: 6,618,522 Q419L possibly damaging Het
Tc2n A G 12: 101,649,089 probably benign Het
Tgfbr2 A C 9: 116,109,669 S388R probably damaging Het
Vmn2r1 A G 3: 64,081,853 E71G probably damaging Het
Xpc A T 6: 91,505,467 I176K probably damaging Het
Xylt1 G T 7: 117,548,993 R264L probably damaging Het
Other mutations in Sec23ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:Sec23ip APN 7 128767609 missense probably damaging 1.00
IGL01347:Sec23ip APN 7 128762405 missense probably benign 0.08
IGL01358:Sec23ip APN 7 128752797 missense possibly damaging 0.68
IGL01835:Sec23ip APN 7 128755311 splice site probably null
IGL02233:Sec23ip APN 7 128779179 missense probably damaging 1.00
IGL02499:Sec23ip APN 7 128776916 missense probably damaging 1.00
IGL03381:Sec23ip APN 7 128750305 missense probably damaging 0.97
R0053:Sec23ip UTSW 7 128745167 missense probably damaging 1.00
R0147:Sec23ip UTSW 7 128779051 splice site probably benign
R0360:Sec23ip UTSW 7 128761405 splice site probably benign
R1427:Sec23ip UTSW 7 128776885 missense probably damaging 0.99
R1442:Sec23ip UTSW 7 128776786 missense probably benign 0.10
R1462:Sec23ip UTSW 7 128766138 missense probably benign
R1462:Sec23ip UTSW 7 128766138 missense probably benign
R1564:Sec23ip UTSW 7 128766281 splice site probably null
R1876:Sec23ip UTSW 7 128752851 missense probably benign
R1966:Sec23ip UTSW 7 128755353 missense probably damaging 0.98
R1977:Sec23ip UTSW 7 128766273 missense probably damaging 1.00
R2115:Sec23ip UTSW 7 128762461 missense probably benign 0.00
R2847:Sec23ip UTSW 7 128754073 missense probably benign 0.00
R3958:Sec23ip UTSW 7 128776850 missense probably benign 0.35
R3959:Sec23ip UTSW 7 128776850 missense probably benign 0.35
R3960:Sec23ip UTSW 7 128776850 missense probably benign 0.35
R4287:Sec23ip UTSW 7 128777333 missense probably benign 0.37
R4510:Sec23ip UTSW 7 128779176 missense probably damaging 1.00
R4511:Sec23ip UTSW 7 128779176 missense probably damaging 1.00
R4612:Sec23ip UTSW 7 128750502 nonsense probably null
R4660:Sec23ip UTSW 7 128750286 missense probably null 0.00
R4890:Sec23ip UTSW 7 128752910 missense probably damaging 0.98
R5287:Sec23ip UTSW 7 128766136 missense probably benign
R5587:Sec23ip UTSW 7 128750427 missense probably benign
R5625:Sec23ip UTSW 7 128744983 unclassified probably benign
R5656:Sec23ip UTSW 7 128776784 missense probably damaging 1.00
R5808:Sec23ip UTSW 7 128772184 missense probably benign 0.00
R6034:Sec23ip UTSW 7 128750203 missense possibly damaging 0.66
R6034:Sec23ip UTSW 7 128750203 missense possibly damaging 0.66
R6145:Sec23ip UTSW 7 128778484 missense probably damaging 0.99
R6747:Sec23ip UTSW 7 128752849 synonymous silent
R6953:Sec23ip UTSW 7 128752796 nonsense probably null
R6992:Sec23ip UTSW 7 128765440 missense probably benign
R7131:Sec23ip UTSW 7 128779640 missense probably damaging 1.00
R7163:Sec23ip UTSW 7 128762533 critical splice donor site probably null
R7387:Sec23ip UTSW 7 128745003 unclassified probably benign
Posted On2014-01-21