Incidental Mutation 'R5587:Sec23ip'
ID 438821
Institutional Source Beutler Lab
Gene Symbol Sec23ip
Ensembl Gene ENSMUSG00000055319
Gene Name Sec23 interacting protein
Synonyms D7Ertd373e, p125
MMRRC Submission 043141-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.416) question?
Stock # R5587 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 128744943-128784836 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 128750427 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 176 (H176Y)
Ref Sequence ENSEMBL: ENSMUSP00000035610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042942] [ENSMUST00000206986]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000042942
AA Change: H176Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035610
Gene: ENSMUSG00000055319
AA Change: H176Y

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 probably benign
Transcript: ENSMUST00000206986
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 96% (78/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 138,065,409 (GRCm38) R120G probably benign Het
4930548H24Rik G T 5: 31,486,084 (GRCm38) G53W probably benign Het
Acad11 A G 9: 104,063,767 (GRCm38) T3A probably benign Het
Adamts18 G A 8: 113,775,360 (GRCm38) Q290* probably null Het
Ahnak A G 19: 9,009,476 (GRCm38) D2708G possibly damaging Het
Asxl3 T A 18: 22,525,247 (GRCm38) C2105S probably benign Het
Atp8b1 A T 18: 64,539,210 (GRCm38) F1028I probably damaging Het
Axdnd1 C G 1: 156,351,412 (GRCm38) W615C probably damaging Het
Bcl3 A T 7: 19,809,634 (GRCm38) Y10* probably null Het
Bmp2 T A 2: 133,554,646 (GRCm38) V74E possibly damaging Het
Ccdc78 C A 17: 25,786,677 (GRCm38) P21Q probably benign Het
Cluap1 T A 16: 3,915,484 (GRCm38) V199E probably damaging Het
Cntnap3 T C 13: 64,746,738 (GRCm38) E1120G probably damaging Het
Col1a2 T A 6: 4,540,531 (GRCm38) W1330R unknown Het
Coq4 A G 2: 29,795,514 (GRCm38) probably null Het
Cwf19l1 G A 19: 44,120,877 (GRCm38) T346I possibly damaging Het
Cyct T C 2: 76,354,203 (GRCm38) Y68C probably damaging Het
Dnah10 T C 5: 124,793,913 (GRCm38) L2368P probably benign Het
Dnah2 A T 11: 69,437,242 (GRCm38) F3346I probably damaging Het
Dpp3 A T 19: 4,918,267 (GRCm38) V259E probably damaging Het
Dpyd A C 3: 119,064,951 (GRCm38) S605R probably damaging Het
Emc1 A G 4: 139,362,148 (GRCm38) E209G probably damaging Het
Esrra A G 19: 6,920,207 (GRCm38) S61P probably benign Het
Fam71d C A 12: 78,715,075 (GRCm38) P171H probably damaging Het
Gbx2 T A 1: 89,933,122 (GRCm38) probably benign Het
Hepacam A G 9: 37,384,684 (GRCm38) H377R probably damaging Het
Igkv12-46 T C 6: 69,764,550 (GRCm38) Y107C probably damaging Het
Intu A G 3: 40,675,308 (GRCm38) D356G probably damaging Het
Izumo4 A T 10: 80,703,220 (GRCm38) N113Y probably damaging Het
Krt86 G A 15: 101,473,593 (GRCm38) A15T probably benign Het
Lhx8 A T 3: 154,311,679 (GRCm38) S275R probably damaging Het
Lingo3 A T 10: 80,835,530 (GRCm38) S189T probably damaging Het
Llgl1 T A 11: 60,710,342 (GRCm38) M702K probably benign Het
Lpin1 T C 12: 16,573,714 (GRCm38) Y223C Het
Lrit3 G T 3: 129,788,898 (GRCm38) A359E probably benign Het
Lrp2 T C 2: 69,499,263 (GRCm38) E1720G probably benign Het
Mcub A C 3: 129,916,970 (GRCm38) V271G probably benign Het
Nktr C T 9: 121,748,489 (GRCm38) probably benign Het
Olfr1342 T A 4: 118,689,870 (GRCm38) D194V probably damaging Het
Olfr1502 G A 19: 13,862,576 (GRCm38) R261H probably damaging Het
Olfr347 A T 2: 36,734,621 (GRCm38) Q100L probably damaging Het
Olfr617 T A 7: 103,584,531 (GRCm38) Y170N probably benign Het
Olfr979 A T 9: 40,000,621 (GRCm38) I202N possibly damaging Het
Olfr984 A T 9: 40,101,244 (GRCm38) L82Q probably damaging Het
Pcdha4 T C 18: 36,954,822 (GRCm38) V686A probably benign Het
Pelo A G 13: 115,089,873 (GRCm38) V16A possibly damaging Het
Plcd1 A G 9: 119,073,832 (GRCm38) S539P probably benign Het
Prss1 A G 6: 41,463,265 (GRCm38) I179V possibly damaging Het
Ptgs2 T C 1: 150,105,555 (GRCm38) Y530H probably damaging Het
Rai1 T C 11: 60,189,859 (GRCm38) V1583A probably damaging Het
Raph1 T G 1: 60,498,473 (GRCm38) D508A probably damaging Het
Rmnd5a A G 6: 71,394,619 (GRCm38) probably benign Het
Rsf1 T C 7: 97,662,121 (GRCm38) L686P probably benign Het
Samd9l T C 6: 3,373,291 (GRCm38) I1323M possibly damaging Het
Scn1a T C 2: 66,273,081 (GRCm38) N1934S probably benign Het
Sh3glb2 A G 2: 30,354,851 (GRCm38) probably null Het
Sis A G 3: 72,914,576 (GRCm38) I1384T possibly damaging Het
Spata31d1a A C 13: 59,702,618 (GRCm38) C565W probably damaging Het
Srbd1 T A 17: 86,127,801 (GRCm38) Q278L probably damaging Het
Sry T C Y: 2,662,625 (GRCm38) H345R unknown Het
Suox A T 10: 128,671,825 (GRCm38) D111E probably damaging Het
Taar7a A T 10: 23,992,828 (GRCm38) F218L probably benign Het
Tfcp2l1 C A 1: 118,664,762 (GRCm38) N288K possibly damaging Het
Tmem128 G T 5: 38,260,421 (GRCm38) R7L possibly damaging Het
Tmem266 A G 9: 55,437,566 (GRCm38) N494S probably damaging Het
Tmprss3 T A 17: 31,193,992 (GRCm38) H80L probably benign Het
Tnrc6c C T 11: 117,749,271 (GRCm38) Q1211* probably null Het
Tns1 T A 1: 73,920,596 (GRCm38) D1671V possibly damaging Het
Trmt1l T A 1: 151,435,704 (GRCm38) probably benign Het
Tshz2 A T 2: 169,884,342 (GRCm38) D286V probably damaging Het
Ttyh2 A G 11: 114,675,659 (GRCm38) E39G probably benign Het
Vmn2r125 G A 4: 156,350,138 (GRCm38) C73Y probably damaging Het
Vmn2r5 T C 3: 64,504,076 (GRCm38) D357G probably damaging Het
Vmn2r61 T C 7: 42,300,487 (GRCm38) F777S probably damaging Het
Vmn2r9 T C 5: 108,847,561 (GRCm38) E407G probably damaging Het
Vwa3a A G 7: 120,780,235 (GRCm38) N521S probably damaging Het
Zan C G 5: 137,391,762 (GRCm38) S4816T unknown Het
Zc3h7b T C 15: 81,771,858 (GRCm38) Y136H possibly damaging Het
Zfp101 T C 17: 33,381,321 (GRCm38) K487R possibly damaging Het
Other mutations in Sec23ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:Sec23ip APN 7 128,767,609 (GRCm38) missense probably damaging 1.00
IGL01347:Sec23ip APN 7 128,762,405 (GRCm38) missense probably benign 0.08
IGL01358:Sec23ip APN 7 128,752,797 (GRCm38) missense possibly damaging 0.68
IGL01656:Sec23ip APN 7 128,750,245 (GRCm38) missense probably damaging 1.00
IGL01835:Sec23ip APN 7 128,755,311 (GRCm38) splice site probably null
IGL02233:Sec23ip APN 7 128,779,179 (GRCm38) missense probably damaging 1.00
IGL02499:Sec23ip APN 7 128,776,916 (GRCm38) missense probably damaging 1.00
IGL03381:Sec23ip APN 7 128,750,305 (GRCm38) missense probably damaging 0.97
R0053:Sec23ip UTSW 7 128,745,167 (GRCm38) missense probably damaging 1.00
R0147:Sec23ip UTSW 7 128,779,051 (GRCm38) splice site probably benign
R0360:Sec23ip UTSW 7 128,761,405 (GRCm38) splice site probably benign
R1427:Sec23ip UTSW 7 128,776,885 (GRCm38) missense probably damaging 0.99
R1442:Sec23ip UTSW 7 128,776,786 (GRCm38) missense probably benign 0.10
R1462:Sec23ip UTSW 7 128,766,138 (GRCm38) missense probably benign
R1462:Sec23ip UTSW 7 128,766,138 (GRCm38) missense probably benign
R1564:Sec23ip UTSW 7 128,766,281 (GRCm38) splice site probably null
R1876:Sec23ip UTSW 7 128,752,851 (GRCm38) missense probably benign
R1966:Sec23ip UTSW 7 128,755,353 (GRCm38) missense probably damaging 0.98
R1977:Sec23ip UTSW 7 128,766,273 (GRCm38) missense probably damaging 1.00
R2115:Sec23ip UTSW 7 128,762,461 (GRCm38) missense probably benign 0.00
R2847:Sec23ip UTSW 7 128,754,073 (GRCm38) missense probably benign 0.00
R3958:Sec23ip UTSW 7 128,776,850 (GRCm38) missense probably benign 0.35
R3959:Sec23ip UTSW 7 128,776,850 (GRCm38) missense probably benign 0.35
R3960:Sec23ip UTSW 7 128,776,850 (GRCm38) missense probably benign 0.35
R4287:Sec23ip UTSW 7 128,777,333 (GRCm38) missense probably benign 0.37
R4510:Sec23ip UTSW 7 128,779,176 (GRCm38) missense probably damaging 1.00
R4511:Sec23ip UTSW 7 128,779,176 (GRCm38) missense probably damaging 1.00
R4612:Sec23ip UTSW 7 128,750,502 (GRCm38) nonsense probably null
R4660:Sec23ip UTSW 7 128,750,286 (GRCm38) missense probably null 0.00
R4890:Sec23ip UTSW 7 128,752,910 (GRCm38) missense probably damaging 0.98
R5287:Sec23ip UTSW 7 128,766,136 (GRCm38) missense probably benign
R5625:Sec23ip UTSW 7 128,744,983 (GRCm38) unclassified probably benign
R5656:Sec23ip UTSW 7 128,776,784 (GRCm38) missense probably damaging 1.00
R5808:Sec23ip UTSW 7 128,772,184 (GRCm38) missense probably benign 0.00
R6034:Sec23ip UTSW 7 128,750,203 (GRCm38) missense possibly damaging 0.66
R6034:Sec23ip UTSW 7 128,750,203 (GRCm38) missense possibly damaging 0.66
R6145:Sec23ip UTSW 7 128,778,484 (GRCm38) missense probably damaging 0.99
R6747:Sec23ip UTSW 7 128,752,849 (GRCm38) synonymous silent
R6953:Sec23ip UTSW 7 128,752,796 (GRCm38) nonsense probably null
R6992:Sec23ip UTSW 7 128,765,440 (GRCm38) missense probably benign
R7131:Sec23ip UTSW 7 128,779,640 (GRCm38) missense probably damaging 1.00
R7163:Sec23ip UTSW 7 128,762,533 (GRCm38) critical splice donor site probably null
R7387:Sec23ip UTSW 7 128,745,003 (GRCm38) unclassified probably benign
R7559:Sec23ip UTSW 7 128,777,350 (GRCm38) missense possibly damaging 0.65
R7975:Sec23ip UTSW 7 128,762,477 (GRCm38) missense probably damaging 1.00
R8158:Sec23ip UTSW 7 128,767,640 (GRCm38) missense probably damaging 0.99
R8337:Sec23ip UTSW 7 128,764,025 (GRCm38) missense probably damaging 1.00
R8409:Sec23ip UTSW 7 128,764,131 (GRCm38) missense probably damaging 1.00
R8418:Sec23ip UTSW 7 128,778,463 (GRCm38) missense probably damaging 0.98
R8434:Sec23ip UTSW 7 128,750,427 (GRCm38) missense probably benign
R8461:Sec23ip UTSW 7 128,772,202 (GRCm38) missense probably benign
R8553:Sec23ip UTSW 7 128,754,053 (GRCm38) missense probably damaging 1.00
R8897:Sec23ip UTSW 7 128,752,743 (GRCm38) missense probably benign 0.14
R9059:Sec23ip UTSW 7 128,764,081 (GRCm38) missense probably damaging 1.00
R9142:Sec23ip UTSW 7 128,761,502 (GRCm38) missense probably damaging 1.00
R9674:Sec23ip UTSW 7 128,778,463 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTGACGACTTCAGCAATGTCAG -3'
(R):5'- ATTCGCATACCGGTGGCAATG -3'

Sequencing Primer
(F):5'- TGGACAGTCAGCACTTCCC -3'
(R):5'- ATACCGGTGGCAATGGTCCAG -3'
Posted On 2016-10-26