Incidental Mutation 'R6737:8430408G22Rik'
ID530232
Institutional Source Beutler Lab
Gene Symbol 8430408G22Rik
Ensembl Gene ENSMUSG00000048489
Gene NameRIKEN cDNA 8430408G22 gene
SynonymsDepp
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6737 (G1)
Quality Score103.008
Status Not validated
Chromosome6
Chromosomal Location116650609-116652794 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 116652097 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 134 (V134L)
Ref Sequence ENSEMBL: ENSMUSP00000136165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035842] [ENSMUST00000067354] [ENSMUST00000178241] [ENSMUST00000203029] [ENSMUST00000204203] [ENSMUST00000204555] [ENSMUST00000204576]
Predicted Effect probably benign
Transcript: ENSMUST00000035842
SMART Domains Protein: ENSMUSP00000048267
Gene: ENSMUSG00000042129

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
low complexity region 46 57 N/A INTRINSIC
RA 173 263 1.36e-15 SMART
Pfam:Nore1-SARAH 276 315 1.7e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000067354
AA Change: V134L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000070203
Gene: ENSMUSG00000048489
AA Change: V134L

DomainStartEndE-ValueType
Pfam:DEPP 25 205 1.1e-71 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000178241
AA Change: V134L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136165
Gene: ENSMUSG00000048489
AA Change: V134L

DomainStartEndE-ValueType
Pfam:DEPP 25 205 5.5e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203029
SMART Domains Protein: ENSMUSP00000144786
Gene: ENSMUSG00000042129

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
low complexity region 46 57 N/A INTRINSIC
RA 173 263 8.7e-18 SMART
Pfam:Nore1-SARAH 276 303 1.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203634
Predicted Effect probably benign
Transcript: ENSMUST00000204203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204313
Predicted Effect probably benign
Transcript: ENSMUST00000204555
SMART Domains Protein: ENSMUSP00000145125
Gene: ENSMUSG00000048489

DomainStartEndE-ValueType
Pfam:DEPP 25 70 3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204576
SMART Domains Protein: ENSMUSP00000145394
Gene: ENSMUSG00000042129

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele are viable and fertile and display normal heart and blood vessel development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,707,568 R114G probably damaging Het
Atm A T 9: 53,486,051 S1661T probably benign Het
Cd69 C T 6: 129,268,299 A188T probably benign Het
Cecr2 G T 6: 120,737,123 L225F possibly damaging Het
Cep295 A G 9: 15,332,351 V1603A possibly damaging Het
Clec4g T C 8: 3,707,716 probably benign Het
Clptm1 A T 7: 19,637,076 probably null Het
Crybg2 G T 4: 134,072,690 G387V probably damaging Het
Ctcf T A 8: 105,664,508 M249K probably benign Het
Ctnnd2 C A 15: 30,966,834 S952* probably null Het
Cxcr2 T C 1: 74,158,631 F95L probably benign Het
Ddx55 C A 5: 124,552,945 T5K probably damaging Het
Eif2ak2 T C 17: 78,863,948 N342S probably benign Het
Eif2ak4 TGG TG 2: 118,462,268 probably null Het
Epb41l2 C G 10: 25,489,018 probably null Het
Fam234b A G 6: 135,228,515 K493E probably damaging Het
Fndc7 C A 3: 108,872,278 V317L probably damaging Het
Fpr-rs6 T C 17: 20,183,077 I7M probably benign Het
Gal3st1 T A 11: 3,998,903 I370N probably benign Het
Gatsl3 A G 11: 4,221,685 D303G probably damaging Het
Glo1 C T 17: 30,597,840 S114N probably benign Het
Grik1 T C 16: 88,051,391 D163G probably damaging Het
Grxcr1 T C 5: 68,110,492 C195R probably damaging Het
Hdac9 T C 12: 34,215,452 N806S probably damaging Het
Igfn1 T C 1: 135,969,867 N987S probably benign Het
Klhl29 G T 12: 5,210,124 S31R possibly damaging Het
Lama4 C T 10: 39,094,911 R1491C probably damaging Het
Lmtk3 T C 7: 45,793,627 L578P probably damaging Het
Lrrk2 A C 15: 91,723,218 M595L possibly damaging Het
Mmp27 A T 9: 7,571,954 N52Y possibly damaging Het
Mrc1 C T 2: 14,271,277 A474V possibly damaging Het
Msl1 A G 11: 98,804,082 H134R probably damaging Het
Muc5b T C 7: 141,857,499 M1394T unknown Het
Myof G A 19: 37,943,514 T968I probably benign Het
Nat8f2 A T 6: 85,868,212 M56K probably benign Het
Ncoa5 C T 2: 165,002,135 G116D probably damaging Het
Ndst2 A G 14: 20,727,494 L494P probably damaging Het
Nfatc3 T A 8: 106,083,969 V459E probably damaging Het
Nup133 A T 8: 123,906,291 Y1034N probably damaging Het
Nup153 A T 13: 46,689,206 S829T probably benign Het
Olfr1317 T C 2: 112,142,203 F86S probably damaging Het
Olfr201 A G 16: 59,268,812 L285P possibly damaging Het
Olfr401 A G 11: 74,121,906 S206G probably benign Het
Olfr628 C T 7: 103,732,150 L75F probably damaging Het
Pcdh18 C A 3: 49,755,895 V324F probably damaging Het
Pcdhb5 T A 18: 37,322,670 L701H probably damaging Het
Plau T G 14: 20,837,816 Y43D probably damaging Het
Pld5 T A 1: 176,090,022 N53I probably damaging Het
Pon2 T A 6: 5,266,183 I279F probably benign Het
Prep A T 10: 45,097,495 K233I possibly damaging Het
Rap1b T C 10: 117,822,808 Y40C probably damaging Het
Ric8a T C 7: 140,858,876 probably null Het
Rnf19b T C 4: 129,085,551 probably benign Het
Rpl9-ps6 A C 19: 32,466,327 S75R probably damaging Het
Sh3bp2 A G 5: 34,562,474 Y609C probably damaging Het
Skint5 T C 4: 113,535,739 N1232S unknown Het
Slc28a1 T G 7: 81,169,248 V615G probably benign Het
Smc1b C T 15: 85,092,031 R825Q probably benign Het
Snx13 T G 12: 35,140,186 N845K probably damaging Het
Srms T C 2: 181,209,460 Y171C probably damaging Het
Supt6 A G 11: 78,231,818 L193P probably damaging Het
Syt7 G A 19: 10,444,044 V531M probably damaging Het
Tmem255b T C 8: 13,457,096 probably null Het
Tnik A T 3: 28,596,086 K449N possibly damaging Het
Trim29 A T 9: 43,319,384 D288V probably benign Het
Ttc13 T A 8: 124,682,161 probably null Het
Uchl3 A T 14: 101,690,597 D167V probably damaging Het
Ugt3a1 T C 15: 9,311,809 V379A probably benign Het
Vps13b A G 15: 35,910,611 D3507G probably damaging Het
Wfdc2 A T 2: 164,563,442 K88* probably null Het
Ylpm1 C A 12: 85,030,846 H1448Q probably damaging Het
Zc3h14 A G 12: 98,785,046 K667E probably damaging Het
Other mutations in 8430408G22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1424:8430408G22Rik UTSW 6 116652005 missense possibly damaging 0.71
R1433:8430408G22Rik UTSW 6 116652262 missense possibly damaging 0.95
R1806:8430408G22Rik UTSW 6 116651722 missense possibly damaging 0.96
R1807:8430408G22Rik UTSW 6 116651722 missense possibly damaging 0.96
R1872:8430408G22Rik UTSW 6 116651722 missense possibly damaging 0.96
R1879:8430408G22Rik UTSW 6 116651722 missense possibly damaging 0.96
R2060:8430408G22Rik UTSW 6 116651722 missense possibly damaging 0.96
R2207:8430408G22Rik UTSW 6 116651722 missense possibly damaging 0.96
R4074:8430408G22Rik UTSW 6 116652068 missense possibly damaging 0.71
R4075:8430408G22Rik UTSW 6 116652068 missense possibly damaging 0.71
R4724:8430408G22Rik UTSW 6 116652135 nonsense probably null
R5229:8430408G22Rik UTSW 6 116652031 missense possibly damaging 0.86
R7049:8430408G22Rik UTSW 6 116652293 missense probably damaging 0.98
R7092:8430408G22Rik UTSW 6 116651788 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AGTGCTGGACAAGGTCACAG -3'
(R):5'- AGTTCATGGATCACTGGGAGG -3'

Sequencing Primer
(F):5'- TGGACAAGGTCACAGCCCAG -3'
(R):5'- TGCAAATAGAGAGTACCTAGGATAC -3'
Posted On2018-08-01