Incidental Mutation 'R4031:Avpi1'
ID 313516
Institutional Source Beutler Lab
Gene Symbol Avpi1
Ensembl Gene ENSMUSG00000018821
Gene Name arginine vasopressin-induced 1
Synonyms 2310008N12Rik, mVIT32
MMRRC Submission 040960-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4031 (G1)
Quality Score 167
Status Validated
Chromosome 19
Chromosomal Location 42111714-42117432 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 42113180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018965] [ENSMUST00000066778] [ENSMUST00000161873]
AlphaFold Q9D7H4
Predicted Effect probably benign
Transcript: ENSMUST00000018965
SMART Domains Protein: ENSMUSP00000018965
Gene: ENSMUSG00000018821

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 95% (52/55)
Allele List at MGI

All alleles(74) : Targeted(3) Gene trapped(71)
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 G T 8: 87,244,077 (GRCm39) F1025L probably damaging Het
Acss2 C T 2: 155,399,130 (GRCm39) T477I probably damaging Het
Aplp2 G A 9: 31,069,026 (GRCm39) P601L probably benign Het
Arl2bp T C 8: 95,394,281 (GRCm39) I32T probably damaging Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Ccdc150 T A 1: 54,317,970 (GRCm39) M303K probably benign Het
Chrna5 T C 9: 54,905,370 (GRCm39) W61R probably damaging Het
Copa T C 1: 171,935,942 (GRCm39) V428A probably damaging Het
Crybb3 A G 5: 113,227,735 (GRCm39) Y29H probably damaging Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Disp2 T C 2: 118,622,361 (GRCm39) I1031T probably benign Het
Elf1 A C 14: 79,806,723 (GRCm39) K161Q probably damaging Het
Fndc1 A T 17: 7,988,584 (GRCm39) Y1159* probably null Het
Hspa12a T C 19: 58,789,289 (GRCm39) N449S probably benign Het
Hyal4 A G 6: 24,756,223 (GRCm39) E147G probably damaging Het
Hydin T C 8: 111,336,679 (GRCm39) I5152T probably benign Het
Ighv9-1 C T 12: 114,057,844 (GRCm39) A19T probably benign Het
Kcnt1 T G 2: 25,806,060 (GRCm39) S1216R possibly damaging Het
Kdm5d T A Y: 916,910 (GRCm39) V435E probably damaging Het
Klhl30 G A 1: 91,288,879 (GRCm39) R546H probably benign Het
Lrp1b C T 2: 40,592,860 (GRCm39) G3753D probably benign Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Macf1 A G 4: 123,275,105 (GRCm39) L6303P probably damaging Het
Mblac2 T C 13: 81,898,208 (GRCm39) S195P possibly damaging Het
Mindy3 A C 2: 12,405,894 (GRCm39) probably null Het
Neurod1 C T 2: 79,284,370 (GRCm39) D338N probably benign Het
Polr1e A T 4: 45,018,685 (GRCm39) E5V probably benign Het
Polr2b G A 5: 77,496,252 (GRCm39) R1141H possibly damaging Het
Ppp2r2a T C 14: 67,266,425 (GRCm39) S79G probably damaging Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Rap1gds1 T C 3: 138,756,353 (GRCm39) probably benign Het
Rsph10b A G 5: 143,922,486 (GRCm39) probably null Het
Slc26a10 A G 10: 127,013,871 (GRCm39) V297A possibly damaging Het
Slc26a5 T C 5: 22,052,189 (GRCm39) K47E probably damaging Het
Slurp1 T C 15: 74,599,336 (GRCm39) E58G probably damaging Het
Spo11 T A 2: 172,828,625 (GRCm39) probably benign Het
Tm9sf4 T C 2: 153,040,264 (GRCm39) probably benign Het
Trak1 T C 9: 121,280,736 (GRCm39) I272T probably damaging Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Unc79 T A 12: 103,039,018 (GRCm39) S671T possibly damaging Het
Usp43 G T 11: 67,804,659 (GRCm39) A186D probably damaging Het
Vmn2r107 G A 17: 20,595,483 (GRCm39) V679I probably benign Het
Vsig10l C T 7: 43,114,798 (GRCm39) A333V probably damaging Het
Vwa3a G A 7: 120,367,455 (GRCm39) probably null Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Wnk1 T C 6: 119,928,029 (GRCm39) T1141A probably damaging Het
Zfp236 T A 18: 82,642,590 (GRCm39) E1052V probably damaging Het
Zfp317 A T 9: 19,558,008 (GRCm39) H163L possibly damaging Het
Zfp975 G A 7: 42,312,377 (GRCm39) Q79* probably null Het
Other mutations in Avpi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0041:Avpi1 UTSW 19 42,112,223 (GRCm39) nonsense probably null
R0041:Avpi1 UTSW 19 42,112,223 (GRCm39) nonsense probably null
R1713:Avpi1 UTSW 19 42,113,248 (GRCm39) missense probably damaging 1.00
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'- AAACACCGTAGCACTGCTTTG -3'
(R):5'- TGCCAACATCTTCCAGGATG -3'

Sequencing Primer
(F):5'- AGCACTGCTTTGACTGGC -3'
(R):5'- AACATCTTCCAGGATGCTGAGCTG -3'
Posted On 2015-04-30