Incidental Mutation 'R5656:Sec23ip'
ID 442325
Institutional Source Beutler Lab
Gene Symbol Sec23ip
Ensembl Gene ENSMUSG00000055319
Gene Name Sec23 interacting protein
Synonyms p125, D7Ertd373e
MMRRC Submission 043302-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.583) question?
Stock # R5656 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 128346667-128386560 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128378508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 774 (Y774C)
Ref Sequence ENSEMBL: ENSMUSP00000035610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042942]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000042942
AA Change: Y774C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035610
Gene: ENSMUSG00000055319
AA Change: Y774C

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 106,436,144 (GRCm39) S139G probably benign Het
Adrb3 T C 8: 27,717,405 (GRCm39) D348G probably damaging Het
Atg2b A G 12: 105,587,587 (GRCm39) V1959A probably benign Het
Bicral G A 17: 47,119,295 (GRCm39) T742M probably damaging Het
Bub1b T A 2: 118,435,912 (GRCm39) I60N probably damaging Het
Ccdc162 A G 10: 41,445,930 (GRCm39) V414A probably benign Het
Cd22 T G 7: 30,569,198 (GRCm39) Y612S probably damaging Het
Cd68 T A 11: 69,555,247 (GRCm39) I320F probably damaging Het
Clca3a2 A T 3: 144,503,393 (GRCm39) N852K probably benign Het
Cpa6 T A 1: 10,399,739 (GRCm39) H363L probably benign Het
Ddx18 A T 1: 121,489,087 (GRCm39) L320Q probably damaging Het
Dnah5 A G 15: 28,421,210 (GRCm39) D3849G probably benign Het
Eci1 T A 17: 24,656,283 (GRCm39) N164K probably damaging Het
Efs T C 14: 55,154,584 (GRCm39) T552A probably damaging Het
Fbp1 C A 13: 63,023,010 (GRCm39) V96L probably damaging Het
Gtf3c1 T A 7: 125,261,826 (GRCm39) N1139I probably benign Het
Gucy1b2 T C 14: 62,660,430 (GRCm39) Y152C probably damaging Het
Gxylt1 A T 15: 93,143,542 (GRCm39) L362Q probably damaging Het
Iqcd A G 5: 120,743,191 (GRCm39) probably null Het
Klhl41 T A 2: 69,513,876 (GRCm39) I585N possibly damaging Het
Map6 A G 7: 98,985,505 (GRCm39) K470E probably damaging Het
Mast3 T C 8: 71,238,865 (GRCm39) T496A probably damaging Het
Mbd6 A T 10: 127,121,155 (GRCm39) probably benign Het
Melk A G 4: 44,312,237 (GRCm39) K183R possibly damaging Het
Mta1 T C 12: 113,086,759 (GRCm39) V152A probably damaging Het
Naa35 G A 13: 59,770,680 (GRCm39) probably benign Het
Nav3 A C 10: 109,600,494 (GRCm39) S1378A probably damaging Het
Ncapd3 T A 9: 26,962,941 (GRCm39) D415E possibly damaging Het
Nlrp4f G A 13: 65,338,685 (GRCm39) R651* probably null Het
Or1e1f T A 11: 73,855,536 (GRCm39) M34K probably damaging Het
Or5b121 A G 19: 13,507,744 (GRCm39) T280A probably benign Het
Or5p72 A G 7: 108,021,825 (GRCm39) I16V probably benign Het
P2rx7 A T 5: 122,811,780 (GRCm39) R364W probably damaging Het
Phactr2 T C 10: 13,264,447 (GRCm39) D2G probably benign Het
Phc3 G T 3: 31,020,015 (GRCm39) S28R probably damaging Het
Ppfia1 A T 7: 144,073,711 (GRCm39) probably null Het
Prdm10 C T 9: 31,264,713 (GRCm39) T667M probably benign Het
Pwwp2b T A 7: 138,835,887 (GRCm39) S443T possibly damaging Het
Pzp T C 6: 128,467,035 (GRCm39) T1113A probably damaging Het
Rapgef6 A G 11: 54,526,962 (GRCm39) E551G possibly damaging Het
Setdb2 T C 14: 59,656,567 (GRCm39) D266G probably damaging Het
Shank1 T C 7: 44,002,310 (GRCm39) V1343A probably benign Het
Slf2 T A 19: 44,961,674 (GRCm39) D1064E probably benign Het
Slu7 A G 11: 43,334,245 (GRCm39) K424E probably benign Het
Smg1 A T 7: 117,753,887 (GRCm39) probably benign Het
Sptlc2 A T 12: 87,393,535 (GRCm39) L264Q probably damaging Het
Sra1 A G 18: 36,811,460 (GRCm39) S93P probably damaging Het
Sult1c2 T C 17: 54,271,680 (GRCm39) E169G probably benign Het
Sv2a A G 3: 96,092,888 (GRCm39) D196G probably damaging Het
Tbc1d22b A G 17: 29,813,754 (GRCm39) I362M probably damaging Het
Tenm3 T C 8: 48,681,797 (GRCm39) D2611G probably damaging Het
Tmem43 T C 6: 91,457,690 (GRCm39) F191L probably benign Het
Trbv13-2 T A 6: 41,098,628 (GRCm39) Y68N probably benign Het
Ttn T G 2: 76,604,998 (GRCm39) D18312A possibly damaging Het
Ublcp1 A G 11: 44,356,433 (GRCm39) V95A probably damaging Het
Usp17ld A G 7: 102,900,047 (GRCm39) V295A probably damaging Het
Vmn1r29 T A 6: 58,285,152 (GRCm39) L291M possibly damaging Het
Vsig10l C T 7: 43,113,575 (GRCm39) R176* probably null Het
Zbtb46 A G 2: 181,065,210 (GRCm39) probably null Het
Zfp644 A G 5: 106,785,848 (GRCm39) V233A 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
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
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 PCR Primer
(F):5'- TAATGGGCCATGCTTACCTTC -3'
(R):5'- GCTGAGCTTTGCAAATCATGAC -3'

Sequencing Primer
(F):5'- ATGGGCCATGCTTACCTTCTTCAG -3'
(R):5'- AGAACCTAAGAATCTATCCGGATG -3'
Posted On 2016-11-09