Incidental Mutation 'R4115:Sec22a'
ID 314609
Institutional Source Beutler Lab
Gene Symbol Sec22a
Ensembl Gene ENSMUSG00000034473
Gene Name SEC22 homolog A, vesicle trafficking protein
Synonyms 1810005C06Rik, Sec22l2
MMRRC Submission 041630-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.345) question?
Stock # R4115 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 35131505-35184222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35139202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 232 (F232S)
Ref Sequence ENSEMBL: ENSMUSP00000039568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043521] [ENSMUST00000154064] [ENSMUST00000232420]
AlphaFold Q8BH47
Predicted Effect probably damaging
Transcript: ENSMUST00000043521
AA Change: F232S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039568
Gene: ENSMUSG00000034473
AA Change: F232S

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 benign
Transcript: ENSMUST00000154064
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232375
Predicted Effect probably benign
Transcript: ENSMUST00000232420
Meta Mutation Damage Score 0.4722 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd34c A G 9: 89,611,927 (GRCm39) L138P probably damaging Het
Aplp2 C T 9: 31,069,122 (GRCm39) R569Q probably benign Het
BC035044 C T 6: 128,867,813 (GRCm39) probably benign Het
Camta2 T C 11: 70,567,300 (GRCm39) M626V possibly damaging Het
Cdh20 G A 1: 110,066,039 (GRCm39) R771Q probably benign Het
Chd3 T G 11: 69,248,343 (GRCm39) I850L possibly damaging Het
Cspg4 T A 9: 56,805,678 (GRCm39) L2163Q probably damaging Het
Cyp2c66 A G 19: 39,165,003 (GRCm39) D328G possibly damaging Het
Dcun1d3 T C 7: 119,458,957 (GRCm39) N26S probably benign Het
Dmxl2 A T 9: 54,354,272 (GRCm39) Y391* probably null Het
Gnl3 T G 14: 30,738,813 (GRCm39) K79Q probably damaging Het
Hat1 A G 2: 71,271,566 (GRCm39) T380A probably benign Het
Hectd1 A T 12: 51,815,506 (GRCm39) L1527* probably null Het
Ighv11-1 A G 12: 113,945,685 (GRCm39) V56A probably benign Het
Ism2 A G 12: 87,333,805 (GRCm39) I80T probably benign Het
Itpr2 C T 6: 146,327,008 (GRCm39) V120I probably damaging Het
Kif1a T A 1: 92,980,260 (GRCm39) E823V probably damaging Het
Letm2 T A 8: 26,070,343 (GRCm39) K432* probably null Het
LTO1 G A 7: 144,473,383 (GRCm39) V142M possibly damaging Het
Mc4r T A 18: 66,993,050 (GRCm39) Y21F probably benign Het
Morc3 G A 16: 93,670,227 (GRCm39) D801N probably benign Het
Mycbpap C A 11: 94,403,051 (GRCm39) probably null Het
Nfkbil1 A G 17: 35,440,286 (GRCm39) M129T probably damaging Het
Notch3 C A 17: 32,377,407 (GRCm39) C223F probably damaging Het
Nrcam T C 12: 44,613,109 (GRCm39) V606A possibly damaging Het
Nudcd2 T C 11: 40,627,434 (GRCm39) M118T probably damaging Het
Or1j13 A T 2: 36,369,797 (GRCm39) L115Q probably damaging Het
Pcsk5 C T 19: 17,410,783 (GRCm39) D1870N unknown Het
Pde3b T C 7: 114,120,962 (GRCm39) F696L probably damaging Het
Pde8a T A 7: 80,932,555 (GRCm39) probably null Het
Pgm1 C T 4: 99,819,348 (GRCm39) Q191* probably null Het
Pramel21 A G 4: 143,344,026 (GRCm39) D442G probably benign Het
Psg20 A G 7: 18,419,905 (GRCm39) S5P probably damaging Het
Reps1 C T 10: 17,979,955 (GRCm39) P397S possibly damaging Het
Spata13 G T 14: 60,929,927 (GRCm39) G168V probably damaging Het
Spta1 T C 1: 174,067,923 (GRCm39) W2117R probably damaging Het
Sptbn4 C T 7: 27,090,995 (GRCm39) E1399K probably damaging Het
Tek T C 4: 94,737,920 (GRCm39) S657P probably damaging Het
Thoc2l T C 5: 104,667,299 (GRCm39) L607S probably damaging Het
Trpm6 T C 19: 18,809,921 (GRCm39) W1106R probably damaging Het
Tssk3 T C 4: 129,383,300 (GRCm39) Y124C probably damaging Het
Ugt2b1 A G 5: 87,074,273 (GRCm39) W29R probably damaging Het
Vmn2r97 T C 17: 19,148,332 (GRCm39) F76L 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
R4116:Sec22a UTSW 16 35,139,202 (GRCm39) missense probably damaging 1.00
R5086:Sec22a UTSW 16 35,168,112 (GRCm39) nonsense probably null
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'- GTCCACTGTGAACATCTGCC -3'
(R):5'- AGGCAGTTTTCTTCAATGTCCC -3'

Sequencing Primer
(F):5'- GCCTACAACTCAAGATTGACGTGTAG -3'
(R):5'- TCCTATCCTGGTAGATTGTT -3'
Posted On 2015-05-14