Incidental Mutation 'R5086:Sec22a'
ID 387473
Institutional Source Beutler Lab
Gene Symbol Sec22a
Ensembl Gene ENSMUSG00000034473
Gene Name SEC22 homolog A, vesicle trafficking protein
Synonyms 1810005C06Rik, Sec22l2
MMRRC Submission 042675-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.345) question?
Stock # R5086 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 35131505-35184222 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 35168112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 133 (S133*)
Ref Sequence ENSEMBL: ENSMUSP00000156164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043521] [ENSMUST00000154064] [ENSMUST00000232420]
AlphaFold Q8BH47
Predicted Effect probably null
Transcript: ENSMUST00000043521
AA Change: S133*
SMART Domains Protein: ENSMUSP00000039568
Gene: ENSMUSG00000034473
AA Change: S133*

DomainStartEndE-ValueType
Longin 36 118 3.01e-23 SMART
transmembrane domain 188 210 N/A INTRINSIC
transmembrane domain 225 247 N/A INTRINSIC
transmembrane domain 254 271 N/A INTRINSIC
transmembrane domain 276 295 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000154064
AA Change: S133*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154216
Predicted Effect probably null
Transcript: ENSMUST00000232420
AA Change: S133*
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the member of the SEC22 family of vesicle trafficking proteins. This protein has similarity to rat SEC22 and may act in the early stages of the secretory pathway. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adsl T A 15: 80,847,901 (GRCm39) M278K probably damaging Het
Ago1 T C 4: 126,347,397 (GRCm39) I147V probably benign Het
Ank1 T C 8: 23,578,634 (GRCm39) L261P probably damaging Het
Ank2 T C 3: 126,740,997 (GRCm39) probably benign Het
Ap1b1 T C 11: 4,968,020 (GRCm39) V177A possibly damaging Het
Arhgap21 A G 2: 20,853,645 (GRCm39) S1906P probably benign Het
Asb1 A G 1: 91,482,533 (GRCm39) Y214C probably benign Het
BC049715 C T 6: 136,817,429 (GRCm39) T223M probably damaging Het
C1ra T A 6: 124,496,688 (GRCm39) C375S probably damaging Het
Cdh26 C T 2: 178,083,210 (GRCm39) R26* probably null Het
Chordc1 A G 9: 18,224,131 (GRCm39) M304V probably benign Het
Cpne8 T C 15: 90,532,771 (GRCm39) probably benign Het
Cracd A G 5: 77,004,971 (GRCm39) E444G unknown Het
Csf1 T C 3: 107,656,026 (GRCm39) E335G possibly damaging Het
Ctnnd2 C T 15: 30,683,493 (GRCm39) P498L possibly damaging Het
Cyp4f18 C T 8: 72,756,276 (GRCm39) R100H probably benign Het
Dnaaf2 G A 12: 69,244,060 (GRCm39) R334C probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dock10 A G 1: 80,529,189 (GRCm39) S1071P possibly damaging Het
Dtnb T C 12: 3,682,942 (GRCm39) V7A probably benign Het
Eif1 T C 11: 100,211,552 (GRCm39) I62T probably damaging Het
Fbxo44 T A 4: 148,240,669 (GRCm39) T145S probably benign Het
G530012D18Rik G C 1: 85,504,941 (GRCm39) probably benign Het
Gabbr2 A T 4: 46,724,342 (GRCm39) M17K probably damaging Het
Gm5860 T A 4: 81,984,173 (GRCm39) noncoding transcript Het
Gm7964 T A 7: 83,406,560 (GRCm39) F439Y possibly damaging Het
Gpbp1l1 C A 4: 116,445,789 (GRCm39) T297N probably benign Het
Greb1 C T 12: 16,758,023 (GRCm39) probably benign Het
Gvin3 A T 7: 106,197,234 (GRCm39) noncoding transcript Het
Hkdc1 T C 10: 62,231,053 (GRCm39) probably benign Het
Ighv16-1 T A 12: 114,032,510 (GRCm39) L97F probably benign Het
Il21r A G 7: 125,232,027 (GRCm39) D485G probably damaging Het
Inpp5d A G 1: 87,633,686 (GRCm39) H441R probably damaging Het
Iqgap2 G T 13: 95,772,088 (GRCm39) R1364S probably benign Het
Krtap20-2 G T 16: 89,002,806 (GRCm39) C2F unknown Het
Man2c1 T A 9: 57,038,924 (GRCm39) D111E probably damaging Het
Map1a G A 2: 121,134,985 (GRCm39) E1696K probably damaging Het
Mdc1 T A 17: 36,159,522 (GRCm39) V634E probably benign Het
Mgam2-ps A G 6: 40,800,547 (GRCm39) noncoding transcript Het
Mllt3 T A 4: 87,707,535 (GRCm39) N68Y probably damaging Het
Mrps18a T A 17: 46,436,621 (GRCm39) D143E probably benign Het
Myl12a T C 17: 71,301,611 (GRCm39) D172G possibly damaging Het
Notch3 T C 17: 32,362,308 (GRCm39) N1439S probably benign Het
Npepps T C 11: 97,108,625 (GRCm39) M764V probably benign Het
Or8d2b T C 9: 38,789,087 (GRCm39) L205P probably damaging Het
Paxbp1 A T 16: 90,812,104 (GRCm39) probably benign Het
Pcdhb7 A T 18: 37,476,162 (GRCm39) T433S possibly damaging Het
Pcdhb8 A T 18: 37,489,159 (GRCm39) Y279F probably damaging Het
Pim3 T C 15: 88,748,606 (GRCm39) L235P probably damaging Het
Plekha4 C T 7: 45,203,082 (GRCm39) S685F possibly damaging Het
Plekhg1 C A 10: 3,853,649 (GRCm39) H167Q probably damaging Het
Plekhn1 G C 4: 156,306,881 (GRCm39) P503A probably benign Het
Sar1a T C 10: 61,527,125 (GRCm39) L181P probably damaging Het
Sipa1l3 G A 7: 29,048,000 (GRCm39) S247F probably damaging Het
Slc31a1 T C 4: 62,306,190 (GRCm39) S103P probably damaging Het
Spag6 A C 2: 18,747,688 (GRCm39) probably benign Het
Stab1 T A 14: 30,865,581 (GRCm39) D1769V probably damaging Het
Stab1 G A 14: 30,881,261 (GRCm39) L590F probably damaging Het
Syde2 CAGTT CAGTTAGTT 3: 145,707,163 (GRCm39) probably null Het
Tbc1d2b A G 9: 90,109,510 (GRCm39) L322P probably benign Het
Tdrp T C 8: 14,024,590 (GRCm39) E18G possibly damaging Het
Tlr3 T A 8: 45,855,862 (GRCm39) N106I probably damaging Het
Tmem104 T A 11: 115,092,227 (GRCm39) I112N probably damaging Het
Tmem14c C T 13: 41,174,598 (GRCm39) T69I probably benign Het
Tmprss11g G A 5: 86,644,377 (GRCm39) P156S possibly damaging Het
Ttn A T 2: 76,700,947 (GRCm39) probably benign Het
Vmn1r45 A T 6: 89,910,082 (GRCm39) I296N probably benign Het
Vmn2r1 T A 3: 63,997,418 (GRCm39) V358D probably benign Het
Zc3h7b T C 15: 81,677,375 (GRCm39) L892P probably damaging Het
Zfp366 A G 13: 99,365,451 (GRCm39) Q204R probably benign Het
Zfp598 C A 17: 24,899,872 (GRCm39) probably benign Het
Other mutations in Sec22a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02730:Sec22a APN 16 35,134,470 (GRCm39) missense probably damaging 1.00
IGL03249:Sec22a APN 16 35,168,133 (GRCm39) missense probably damaging 1.00
Quills UTSW 16 35,181,926 (GRCm39) splice site probably null
R0681:Sec22a UTSW 16 35,181,926 (GRCm39) splice site probably null
R1568:Sec22a UTSW 16 35,167,998 (GRCm39) missense probably benign 0.17
R1634:Sec22a UTSW 16 35,139,243 (GRCm39) intron probably benign
R1863:Sec22a UTSW 16 35,168,088 (GRCm39) missense probably damaging 1.00
R2200:Sec22a UTSW 16 35,134,527 (GRCm39) missense probably damaging 0.97
R4114:Sec22a UTSW 16 35,139,202 (GRCm39) missense probably damaging 1.00
R4115:Sec22a UTSW 16 35,139,202 (GRCm39) missense probably damaging 1.00
R4116:Sec22a UTSW 16 35,139,202 (GRCm39) missense probably damaging 1.00
R5986:Sec22a UTSW 16 35,134,461 (GRCm39) missense probably damaging 1.00
R7042:Sec22a UTSW 16 35,149,885 (GRCm39) missense probably benign 0.23
R7623:Sec22a UTSW 16 35,149,894 (GRCm39) missense probably benign 0.18
R7878:Sec22a UTSW 16 35,168,005 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AATGGGTTGCTTTGAACTTCC -3'
(R):5'- AATGCTAGACTTTACTGTTGAGAGTGC -3'

Sequencing Primer
(F):5'- ATGGGTTGCTTTGAACTTCCATATTC -3'
(R):5'- GACTTTACTGTTGAGAGTGCTAAAC -3'
Posted On 2016-06-06