Incidental Mutation 'PIT4618001:I830077J02Rik'
ID 555682
Institutional Source Beutler Lab
Gene Symbol I830077J02Rik
Ensembl Gene ENSMUSG00000074342
Gene Name RIKEN cDNA I830077J02 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock # PIT4618001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 105924358-105932664 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105926570 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 90 (T90M)
Ref Sequence ENSEMBL: ENSMUSP00000096354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010279] [ENSMUST00000098758] [ENSMUST00000198080] [ENSMUST00000199977] [ENSMUST00000200482]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000010279
SMART Domains Protein: ENSMUSP00000010279
Gene: ENSMUSG00000074344

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
IG 20 115 3.94e0 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098758
AA Change: T90M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096354
Gene: ENSMUSG00000074342
AA Change: T90M

DomainStartEndE-ValueType
transmembrane domain 36 58 N/A INTRINSIC
low complexity region 80 89 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126230
Predicted Effect probably benign
Transcript: ENSMUST00000196099
Predicted Effect probably benign
Transcript: ENSMUST00000198080
SMART Domains Protein: ENSMUSP00000143300
Gene: ENSMUSG00000074344

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
IG 20 115 3.94e0 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199977
SMART Domains Protein: ENSMUSP00000142671
Gene: ENSMUSG00000074344

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
IG 20 115 1.6e-2 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200482
SMART Domains Protein: ENSMUSP00000142695
Gene: ENSMUSG00000074344

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
IG 20 115 1.6e-2 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 91.0%
  • 10x: 85.9%
  • 20x: 75.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A T 5: 107,545,709 D64V probably damaging Het
Ankdd1a A C 9: 65,507,650 I268S possibly damaging Het
Atad3a C T 4: 155,750,138 R402Q probably benign Het
C3ar1 A G 6: 122,850,787 V157A probably benign Het
Cd55 C T 1: 130,456,869 V206I probably benign Het
Cd8a A G 6: 71,373,677 D42G possibly damaging Het
Cemip G T 7: 83,943,939 F1185L probably benign Het
Cfap58 A G 19: 47,975,514 D527G probably damaging Het
Cyp2a12 C A 7: 27,034,773 S377Y probably benign Het
Dapk2 A G 9: 66,268,686 D289G probably benign Het
Efcab6 G A 15: 83,983,446 A277V probably benign Het
Ephx2 A T 14: 66,102,222 F250L probably damaging Het
Flg2 A T 3: 93,203,781 S1039C unknown Het
Gm609 A G 16: 45,443,934 F87S probably benign Het
Gramd1a A G 7: 31,132,596 V674A probably benign Het
Gtf2a1 A C 12: 91,567,769 V237G probably benign Het
Jagn1 T A 6: 113,447,437 L90H probably damaging Het
Mdn1 G T 4: 32,746,527 A4158S probably benign Het
Myh11 G A 16: 14,201,066 A1839V Het
Olr1 G A 6: 129,499,906 A132V probably damaging Het
Paqr3 A T 5: 97,103,471 H131Q possibly damaging Het
Pde4b A T 4: 102,602,812 T397S probably benign Het
Pon1 A G 6: 5,168,349 C353R probably damaging Het
Ppie G A 4: 123,138,868 T43I probably null Het
Prr5l A G 2: 101,758,530 F92L probably damaging Het
Rai14 T C 15: 10,575,156 Y601C probably damaging Het
Rasal1 A G 5: 120,670,376 D491G probably damaging Het
Rbm12b1 T A 4: 12,145,441 V471E probably damaging Het
Rpusd2 T C 2: 119,038,452 L452P possibly damaging Het
Scgb2b24 A T 7: 33,738,611 C24S probably damaging Het
Slc17a5 C T 9: 78,538,248 V468M possibly damaging Het
Tcp10c A G 17: 13,356,510 K117R possibly damaging Het
Ubash3b A G 9: 41,016,627 S584P probably benign Het
Vps13b C T 15: 35,709,240 R1778C probably damaging Het
Ythdc2 A G 18: 44,834,598 I220M probably benign Het
Zfp474 C A 18: 52,638,404 T43K probably damaging Het
Zscan4-ps3 G A 7: 11,613,334 M432I probably benign Het
Other mutations in I830077J02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:I830077J02Rik APN 3 105928733 critical splice donor site probably null
IGL02034:I830077J02Rik APN 3 105927249 unclassified probably benign
R0115:I830077J02Rik UTSW 3 105926570 missense probably damaging 1.00
R0207:I830077J02Rik UTSW 3 105926505 missense probably benign 0.34
R2427:I830077J02Rik UTSW 3 105928004 missense probably damaging 0.96
R6841:I830077J02Rik UTSW 3 105926514 missense possibly damaging 0.87
R8130:I830077J02Rik UTSW 3 105926917 missense possibly damaging 0.92
R8139:I830077J02Rik UTSW 3 105927998 missense probably benign 0.23
R8443:I830077J02Rik UTSW 3 105928744 missense probably damaging 0.98
R8792:I830077J02Rik UTSW 3 105927788 unclassified probably benign
Z1088:I830077J02Rik UTSW 3 105927213 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATAGAGTGTGGTCCCAGG -3'
(R):5'- CATCACTTTCTGGACTCTGGG -3'

Sequencing Primer
(F):5'- GTCCCAGGTTTGTGGAAAAC -3'
(R):5'- ACTTTCTGGACTCTGGGCAAGTAG -3'
Posted On 2019-06-07