Incidental Mutation 'R0041:Avpi1'
ID 201507
Institutional Source Beutler Lab
Gene Symbol Avpi1
Ensembl Gene ENSMUSG00000018821
Gene Name arginine vasopressin-induced 1
Synonyms 2310008N12Rik, mVIT32
MMRRC Submission 038335-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0041 (G1)
Quality Score 50
Status Validated
Chromosome 19
Chromosomal Location 42111714-42117432 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 42112223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 112 (E112*)
Ref Sequence ENSEMBL: ENSMUSP00000018965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018965] [ENSMUST00000066778] [ENSMUST00000161873]
AlphaFold Q9D7H4
Predicted Effect probably null
Transcript: ENSMUST00000018965
AA Change: E112*
SMART Domains Protein: ENSMUSP00000018965
Gene: ENSMUSG00000018821
AA Change: E112*

DomainStartEndE-ValueType
Pfam:TC1 1 76 2.3e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066778
SMART Domains Protein: ENSMUSP00000069284
Gene: ENSMUSG00000025178

DomainStartEndE-ValueType
low complexity region 31 53 N/A INTRINSIC
low complexity region 68 98 N/A INTRINSIC
Pfam:PI3_PI4_kinase 133 431 1.7e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161873
SMART Domains Protein: ENSMUSP00000124617
Gene: ENSMUSG00000018821

DomainStartEndE-ValueType
Pfam:TC1 1 76 6.6e-34 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 97% (58/60)
Allele List at MGI

All alleles(74) : Targeted(3) Gene trapped(71)

Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A G 2: 26,873,986 (GRCm39) R412G probably damaging Het
Adamts3 T A 5: 89,832,326 (GRCm39) N927Y probably benign Het
Adgra3 A G 5: 50,117,901 (GRCm39) Y1216H probably benign Het
Agpat3 C A 10: 78,123,881 (GRCm39) probably benign Het
AI182371 T A 2: 34,975,733 (GRCm39) Q277L possibly damaging Het
Arhgef15 A T 11: 68,845,342 (GRCm39) L170Q possibly damaging Het
Braf C T 6: 39,617,413 (GRCm39) A534T probably damaging Het
Bspry G C 4: 62,404,791 (GRCm39) A196P probably damaging Het
Cacna1c T A 6: 118,570,988 (GRCm39) L2095F probably damaging Het
Cdhr2 A T 13: 54,874,651 (GRCm39) S908C probably damaging Het
Cntnap5c C A 17: 58,183,464 (GRCm39) Q57K probably benign Het
Dtna C T 18: 23,779,932 (GRCm39) probably benign Het
Dynap A G 18: 70,375,105 (GRCm39) S37P possibly damaging Het
Efna5 A T 17: 62,914,467 (GRCm39) probably benign Het
Fancm T A 12: 65,153,217 (GRCm39) C1224* probably null Het
Fbxw16 T A 9: 109,277,232 (GRCm39) S37C probably damaging Het
Galnt4 A G 10: 98,944,374 (GRCm39) Y33C probably benign Het
Kcnk2 G T 1: 189,027,888 (GRCm39) N122K probably benign Het
Krt71 C A 15: 101,647,753 (GRCm39) E222D probably damaging Het
Ltf T A 9: 110,858,636 (GRCm39) D461E possibly damaging Het
Mapk4 A T 18: 74,068,109 (GRCm39) L274Q probably damaging Het
Mbd6 A G 10: 127,122,741 (GRCm39) C103R probably damaging Het
Nbeal1 A G 1: 60,321,030 (GRCm39) N2047S probably benign Het
Nefh C T 11: 4,895,184 (GRCm39) S335N possibly damaging Het
Obscn G T 11: 58,934,803 (GRCm39) H4715N probably damaging Het
Olfml1 A T 7: 107,189,393 (GRCm39) I153L possibly damaging Het
Or6d13 G A 6: 116,518,295 (GRCm39) V294I possibly damaging Het
Or8g34 T A 9: 39,372,772 (GRCm39) F12Y probably benign Het
Pck1 A G 2: 172,997,003 (GRCm39) E215G probably benign Het
Peg12 T A 7: 62,113,308 (GRCm39) E263V unknown Het
Phkg1 T A 5: 129,903,103 (GRCm39) T15S probably benign Het
Plekhg1 T A 10: 3,914,076 (GRCm39) L1120* probably null Het
Prss59 A T 6: 40,903,042 (GRCm39) L110* probably null Het
Rlf T A 4: 121,007,126 (GRCm39) H618L probably damaging Het
Rnf112 T A 11: 61,343,181 (GRCm39) R165W probably damaging Het
Rnf213 A G 11: 119,293,401 (GRCm39) T51A probably benign Het
Rnf220 A G 4: 117,130,481 (GRCm39) L293P probably damaging Het
Rock1 T C 18: 10,140,240 (GRCm39) D117G probably damaging Het
Rp1 A G 1: 4,414,851 (GRCm39) V2087A probably benign Het
Rpl7a A G 2: 26,801,563 (GRCm39) probably null Het
Serpinb6d A G 13: 33,851,615 (GRCm39) D124G probably damaging Het
Skor1 T G 9: 63,053,133 (GRCm39) T279P probably damaging Het
Son A T 16: 91,456,221 (GRCm39) E1656V probably damaging Het
Swap70 A G 7: 109,878,562 (GRCm39) K511E probably benign Het
Treh T C 9: 44,594,910 (GRCm39) V262A probably benign Het
Trpm4 A G 7: 44,954,370 (GRCm39) probably null Het
Ugt8a T C 3: 125,708,739 (GRCm39) I124V probably benign Het
Wdr53 T C 16: 32,075,473 (GRCm39) V226A probably damaging Het
Wdr64 G A 1: 175,554,037 (GRCm39) W189* probably null Het
Other mutations in Avpi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0041:Avpi1 UTSW 19 42,112,223 (GRCm39) nonsense probably null
R1713:Avpi1 UTSW 19 42,113,248 (GRCm39) missense probably damaging 1.00
R4031:Avpi1 UTSW 19 42,113,180 (GRCm39) unclassified probably benign
R5547:Avpi1 UTSW 19 42,113,382 (GRCm39) missense probably damaging 1.00
R6675:Avpi1 UTSW 19 42,112,183 (GRCm39) missense probably benign
R7033:Avpi1 UTSW 19 42,113,416 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGATGCTGGCTCTGAGCTGAAC -3'
(R):5'- AGAGACTTGTTGAGTGTCCCACCC -3'

Sequencing Primer
(F):5'- TGAGCTGAACTCAGGGCATTC -3'
(R):5'- CCTCTTAACGTTCAGTTTTGGAAAGG -3'
Posted On 2014-06-13