Incidental Mutation 'R6992:Sec23ip'
ID 543907
Institutional Source Beutler Lab
Gene Symbol Sec23ip
Ensembl Gene ENSMUSG00000055319
Gene Name Sec23 interacting protein
Synonyms p125, D7Ertd373e
MMRRC Submission 045098-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.583) question?
Stock # R6992 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 128346667-128386560 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128367164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 600 (S600P)
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: S600P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035610
Gene: ENSMUSG00000055319
AA Change: S600P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (64/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,099,990 (GRCm39) S171N possibly damaging Het
6030468B19Rik T G 11: 117,688,594 (GRCm39) M1R probably null Het
A730049H05Rik T C 6: 92,804,975 (GRCm39) probably benign Het
AC125199.3 G T 16: 88,608,915 (GRCm39) H52Q possibly damaging Het
Adam34 A T 8: 44,105,642 (GRCm39) M1K probably null Het
Adgrf5 T C 17: 43,763,214 (GRCm39) probably null Het
Antxr2 T C 5: 98,108,564 (GRCm39) T316A probably benign Het
Cc2d1a A T 8: 84,861,542 (GRCm39) V714D probably damaging Het
Cd96 A G 16: 45,870,087 (GRCm39) S461P possibly damaging Het
Cdc16 C A 8: 13,809,188 (GRCm39) A51E probably benign Het
Chd4 T A 6: 125,091,339 (GRCm39) D1243E probably benign Het
Cntf A T 19: 12,742,697 (GRCm39) I21N probably damaging Het
Col11a2 C T 17: 34,266,118 (GRCm39) A282V probably benign Het
Col14a1 T A 15: 55,274,958 (GRCm39) probably null Het
Cyp2b9 T C 7: 25,900,564 (GRCm39) Y401H probably benign Het
Dlgap4 A G 2: 156,590,860 (GRCm39) probably null Het
Fancd2 T C 6: 113,547,979 (GRCm39) probably null Het
Fcgbpl1 T A 7: 27,839,608 (GRCm39) F474I probably benign Het
Frem1 A G 4: 82,858,599 (GRCm39) V1622A possibly damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Gstm4 A G 3: 107,951,981 (GRCm39) M3T possibly damaging Het
Hdac10 T C 15: 89,009,534 (GRCm39) D466G probably benign Het
Hook2 A G 8: 85,729,185 (GRCm39) E625G probably damaging Het
Hspbp1 G C 7: 4,667,714 (GRCm39) P260A probably benign Het
Igdcc3 C A 9: 65,088,853 (GRCm39) Q411K probably damaging Het
Il18rap G A 1: 40,581,195 (GRCm39) E356K probably benign Het
Inpp4a A T 1: 37,428,772 (GRCm39) M699L probably damaging Het
Klhdc1 A G 12: 69,300,531 (GRCm39) H157R probably damaging Het
Klhl6 G T 16: 19,772,337 (GRCm39) T336N probably damaging Het
Marchf7 T C 2: 60,059,428 (GRCm39) probably null Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mlh3 T A 12: 85,282,494 (GRCm39) N1412Y probably damaging Het
Mrps27 A G 13: 99,541,522 (GRCm39) M209V probably benign Het
Mtor A T 4: 148,548,932 (GRCm39) T572S probably benign Het
Neurog1 T C 13: 56,399,363 (GRCm39) K128R probably damaging Het
Or10g6 T A 9: 39,933,896 (GRCm39) L69* probably null Het
Or2b4 T A 17: 38,116,754 (GRCm39) N239K probably damaging Het
Or5b122 A G 19: 13,562,811 (GRCm39) I48V possibly damaging Het
Pcdhgb1 A G 18: 37,814,652 (GRCm39) K381R probably benign Het
Pdzd2 T C 15: 12,457,945 (GRCm39) D306G probably damaging Het
Plekha5 C T 6: 140,489,634 (GRCm39) T237I probably damaging Het
Plscr1l1 T C 9: 92,236,725 (GRCm39) M128T probably benign Het
Pole A T 5: 110,480,365 (GRCm39) I103F probably damaging Het
Ppfia2 A T 10: 106,310,715 (GRCm39) Q74L possibly damaging Het
Ppm1d T C 11: 85,223,178 (GRCm39) F261S probably damaging Het
Psg21 A T 7: 18,388,668 (GRCm39) probably null Het
Ptprg T A 14: 11,962,602 (GRCm38) F133L probably damaging Het
Rom1 G A 19: 8,906,569 (GRCm39) probably benign Het
Rtn3 A G 19: 7,412,489 (GRCm39) F762L probably damaging Het
Sema4b T A 7: 79,869,900 (GRCm39) I396N probably damaging Het
Serpina3k T A 12: 104,307,366 (GRCm39) D199E probably benign Het
Slc19a1 A G 10: 76,885,540 (GRCm39) D480G possibly damaging Het
Slc8b1 G A 5: 120,665,880 (GRCm39) V404M probably damaging Het
Slco1a4 T C 6: 141,765,330 (GRCm39) D304G probably benign Het
Smpdl3b G T 4: 132,472,452 (GRCm39) A107D possibly damaging Het
Tesk1 A G 4: 43,447,006 (GRCm39) T465A probably benign Het
Tmem245 A G 4: 56,937,940 (GRCm39) F203L probably benign Het
Tnip1 T A 11: 54,809,542 (GRCm39) I442F probably benign Het
Txnip A G 3: 96,466,439 (GRCm39) K127R possibly damaging Het
Usp32 A C 11: 84,922,914 (GRCm39) L172R probably damaging Het
Vmn2r66 A G 7: 84,654,436 (GRCm39) S508P possibly damaging Het
Vwa5b2 T A 16: 20,416,952 (GRCm39) Y550N probably damaging Het
Wdr81 G A 11: 75,342,612 (GRCm39) A885V probably benign 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
R5808:Sec23ip UTSW 7 128,373,908 (GRCm39) missense probably benign 0.00
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
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 PCR Primer
(F):5'- TGGCTGCAAAACTTGTGTATATAAGA -3'
(R):5'- CCATGAGTCCTGACAACTGGA -3'

Sequencing Primer
(F):5'- CAACTCAGGTTGCTAAGTCTGCATG -3'
(R):5'- CATGAGTCCTGACAACTGGAAACTG -3'
Posted On 2019-05-13