Incidental Mutation 'R7274:1190005I06Rik'
ID 565456
Institutional Source Beutler Lab
Gene Symbol 1190005I06Rik
Ensembl Gene ENSMUSG00000043687
Gene Name RIKEN cDNA 1190005I06 gene
Synonyms
MMRRC Submission 067851-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R7274 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 121335341-121361129 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121338005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 69 (S69G)
Ref Sequence ENSEMBL: ENSMUSP00000119467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123927] [ENSMUST00000127664] [ENSMUST00000144417] [ENSMUST00000180677] [ENSMUST00000181333]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000123927
AA Change: S69G

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119467
Gene: ENSMUSG00000043687
AA Change: S69G

DomainStartEndE-ValueType
low complexity region 15 32 N/A INTRINSIC
Pfam:DUF4597 48 110 4.2e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144417
SMART Domains Protein: ENSMUSP00000121882
Gene: ENSMUSG00000043687

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000180677
AA Change: S34G

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000137752
Gene: ENSMUSG00000043687
AA Change: S34G

DomainStartEndE-ValueType
Pfam:DUF4597 13 75 1.3e-44 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000181333
AA Change: S114G
SMART Domains Protein: ENSMUSP00000137785
Gene: ENSMUSG00000097919
AA Change: S114G

DomainStartEndE-ValueType
Pfam:UPF0172 1 79 4.9e-29 PFAM
Pfam:DUF4597 93 155 2.5e-43 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg12 G A 15: 88,690,910 (GRCm39) S337F probably damaging Het
Bcl11a T C 11: 24,113,985 (GRCm39) S443P probably damaging Het
C1qtnf4 T C 2: 90,719,885 (GRCm39) Y53H probably damaging Het
Cacna1d T A 14: 29,864,600 (GRCm39) E454V probably damaging Het
Cacna1h A G 17: 25,597,811 (GRCm39) F1761S probably damaging Het
Cacna1i A T 15: 80,261,023 (GRCm39) I1344F possibly damaging Het
Cat T C 2: 103,307,235 (GRCm39) N33D probably benign Het
Cdh17 C T 4: 11,783,174 (GRCm39) Q172* probably null Het
Chrna2 A G 14: 66,386,675 (GRCm39) I274V probably benign Het
Cog2 T G 8: 125,262,258 (GRCm39) S299A possibly damaging Het
Cpa6 C A 1: 10,479,524 (GRCm39) M236I probably damaging Het
Crym T A 7: 119,789,742 (GRCm39) Q242L probably benign Het
Ddx60 T C 8: 62,393,142 (GRCm39) probably null Het
Eif4a3l1 A G 6: 136,306,396 (GRCm39) T286A possibly damaging Het
Epdr1 A T 13: 19,777,458 (GRCm39) I180N possibly damaging Het
Fancd2os G A 6: 113,574,851 (GRCm39) L52F probably benign Het
Fbxo16 C A 14: 65,558,716 (GRCm39) R292S probably benign Het
Fn1 T C 1: 71,667,272 (GRCm39) Q820R probably benign Het
Gm4131 T A 14: 62,704,301 (GRCm39) Y140F possibly damaging Het
Grin2a T C 16: 9,396,986 (GRCm39) R1034G possibly damaging Het
Hypk A G 2: 121,284,805 (GRCm39) probably benign Het
Ighmbp2 A G 19: 3,314,951 (GRCm39) V823A probably benign Het
Irf5 A G 6: 29,534,039 (GRCm39) N95S probably damaging Het
Kdr A T 5: 76,125,360 (GRCm39) M379K probably benign Het
Kif19a G T 11: 114,656,281 (GRCm39) probably benign Het
Klhdc4 T C 8: 122,526,397 (GRCm39) probably null Het
Lama2 A T 10: 26,995,976 (GRCm39) I1717N probably damaging Het
Lama4 A T 10: 38,968,295 (GRCm39) Q1479L probably benign Het
Lgr5 T A 10: 115,288,410 (GRCm39) T745S probably damaging Het
Lifr T A 15: 7,196,540 (GRCm39) probably null Het
Llgl1 C T 11: 60,596,812 (GRCm39) R138C possibly damaging Het
Mccc1 A T 3: 36,044,005 (GRCm39) V246E probably damaging Het
Mdn1 T A 4: 32,725,944 (GRCm39) L2621H probably benign Het
Mecr C A 4: 131,581,089 (GRCm39) A80D probably damaging Het
Mia2 A G 12: 59,154,905 (GRCm39) E206G probably damaging Het
Nubpl A G 12: 52,179,203 (GRCm39) probably benign Het
Obscn C T 11: 59,024,053 (GRCm39) R539H probably damaging Het
Or4n4b T A 14: 50,535,879 (GRCm39) T296S probably benign Het
Or8h10 A G 2: 86,808,867 (GRCm39) V91A probably benign Het
Pde5a A T 3: 122,648,895 (GRCm39) K838* probably null Het
Pgm3 A G 9: 86,444,650 (GRCm39) L295P probably damaging Het
Pkp2 T C 16: 16,064,793 (GRCm39) L439P possibly damaging Het
Polr1a T A 6: 71,897,500 (GRCm39) C205* probably null Het
Rab3gap1 T A 1: 127,855,249 (GRCm39) I429K probably benign Het
Rassf8 T C 6: 145,761,295 (GRCm39) V207A probably benign Het
Sacs T A 14: 61,451,530 (GRCm39) D4525E possibly damaging Het
Sec24a A T 11: 51,598,082 (GRCm39) L864Q probably damaging Het
Spats2l C A 1: 57,918,672 (GRCm39) Y35* probably null Het
Sptlc2 A T 12: 87,388,380 (GRCm39) D367E probably benign Het
Ssc4d T C 5: 135,996,810 (GRCm39) D97G possibly damaging Het
Tjp1 A G 7: 65,177,400 (GRCm39) Y3H possibly damaging Het
Tkt T A 14: 30,291,102 (GRCm39) probably null Het
Trim60 T A 8: 65,453,133 (GRCm39) N372I possibly damaging Het
Trpm2 T C 10: 77,759,389 (GRCm39) N1132D probably benign Het
Tsc22d1 T C 14: 76,654,154 (GRCm39) I211T probably damaging Het
Ttc39b T C 4: 83,180,088 (GRCm39) K132E possibly damaging Het
Ttn C T 2: 76,553,932 (GRCm39) V30924I probably damaging Het
Tubgcp6 G A 15: 88,987,173 (GRCm39) Q1267* probably null Het
Zfp30 C A 7: 29,492,043 (GRCm39) T180N probably benign Het
Zp2 A G 7: 119,731,614 (GRCm39) *714R probably null Het
Other mutations in 1190005I06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01884:1190005I06Rik APN 8 121,335,774 (GRCm39) splice site probably benign
R6466:1190005I06Rik UTSW 8 121,335,735 (GRCm39) missense probably damaging 1.00
R9361:1190005I06Rik UTSW 8 121,361,060 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTCAACGAGCCACATCTTGC -3'
(R):5'- TTTGTGGAGCATGGGCACTC -3'

Sequencing Primer
(F):5'- TCTTGCCAGGGCTGACATCATG -3'
(R):5'- CATGGGCACTCTCAGAGCAAG -3'
Posted On 2019-06-26