Incidental Mutation 'R3743:1700030K09Rik'
ID 270450
Institutional Source Beutler Lab
Gene Symbol 1700030K09Rik
Ensembl Gene ENSMUSG00000052794
Gene Name RIKEN cDNA 1700030K09 gene
Synonyms
MMRRC Submission 040729-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R3743 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 73197724-73214385 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73199013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 140 (H140R)
Ref Sequence ENSEMBL: ENSMUSP00000063244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019876] [ENSMUST00000064853] [ENSMUST00000121902]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000019876
SMART Domains Protein: ENSMUSP00000019876
Gene: ENSMUSG00000019732

DomainStartEndE-ValueType
Pfam:Calreticulin 23 256 5.7e-40 PFAM
Pfam:Calreticulin 255 315 6.6e-7 PFAM
low complexity region 345 359 N/A INTRINSIC
low complexity region 365 376 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064853
AA Change: H140R

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794
AA Change: H140R

DomainStartEndE-ValueType
low complexity region 200 216 N/A INTRINSIC
low complexity region 250 262 N/A INTRINSIC
low complexity region 320 333 N/A INTRINSIC
low complexity region 374 383 N/A INTRINSIC
low complexity region 421 432 N/A INTRINSIC
Pfam:DUF4614 438 608 2e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121902
AA Change: H140R

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794
AA Change: H140R

DomainStartEndE-ValueType
low complexity region 200 216 N/A INTRINSIC
low complexity region 250 262 N/A INTRINSIC
low complexity region 320 333 N/A INTRINSIC
low complexity region 387 398 N/A INTRINSIC
Pfam:DUF4614 400 575 1.3e-75 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A G 4: 137,182,348 (GRCm39) R168G probably damaging Het
Adamts10 A G 17: 33,747,686 (GRCm39) I41V probably damaging Het
Arnt T C 3: 95,382,016 (GRCm39) V198A possibly damaging Het
Atg3 A G 16: 44,998,591 (GRCm39) probably null Het
Atmin T C 8: 117,683,312 (GRCm39) V324A probably benign Het
Ccdc88c G A 12: 100,914,843 (GRCm39) R464C probably damaging Het
Ccr7 G T 11: 99,036,033 (GRCm39) S296R possibly damaging Het
Cdh12 T A 15: 21,537,745 (GRCm39) S415R probably damaging Het
Cep162 A T 9: 87,099,230 (GRCm39) probably benign Het
Chd3 G A 11: 69,254,876 (GRCm39) R61* probably null Het
Cr2 A G 1: 194,832,274 (GRCm39) probably benign Het
Csf1r T C 18: 61,247,846 (GRCm39) S305P probably benign Het
Cyp4a31 A C 4: 115,423,716 (GRCm39) Q140P possibly damaging Het
Dhx40 A T 11: 86,661,985 (GRCm39) W691R probably damaging Het
Dlgap1 G A 17: 71,025,221 (GRCm39) probably null Het
Entr1 A G 2: 26,278,655 (GRCm39) probably benign Het
Exoc5 T C 14: 49,251,806 (GRCm39) I582V probably benign Het
Exoc5 A T 14: 49,270,864 (GRCm39) L387* probably null Het
Fbxw8 A G 5: 118,251,704 (GRCm39) S270P probably damaging Het
Fgf14 C A 14: 124,914,032 (GRCm39) G33V probably benign Het
Hoxd9 T A 2: 74,528,710 (GRCm39) V104E probably damaging Het
Igsf10 T C 3: 59,233,546 (GRCm39) H1729R possibly damaging Het
Irf8 C T 8: 121,480,310 (GRCm39) R274C probably damaging Het
Itgb4 G A 11: 115,894,496 (GRCm39) M1350I probably damaging Het
Lrrn4 A G 2: 132,711,786 (GRCm39) probably null Het
Map3k6 C T 4: 132,972,384 (GRCm39) T320I probably benign Het
Morc2a A G 11: 3,633,700 (GRCm39) E604G possibly damaging Het
Mtmr6 T C 14: 60,537,747 (GRCm39) I582T probably benign Het
Ninl A G 2: 150,792,168 (GRCm39) V785A probably benign Het
Obscn T C 11: 58,969,911 (GRCm39) E77G probably damaging Het
Or2b11 T C 11: 59,462,335 (GRCm39) Y77C probably damaging Het
Or2n1 T G 17: 38,486,793 (GRCm39) F273V probably damaging Het
Or4f61 A G 2: 111,922,965 (GRCm39) L27P probably benign Het
Pcdhb2 A G 18: 37,429,470 (GRCm39) D124G probably damaging Het
Pfkl G A 10: 77,832,179 (GRCm39) T304M probably damaging Het
Ppil4 T A 10: 7,696,935 (GRCm39) S483T unknown Het
Slc7a10 C T 7: 34,898,325 (GRCm39) T332I probably damaging Het
Spats2 T C 15: 99,108,795 (GRCm39) S382P probably benign Het
Stpg1 T A 4: 135,242,197 (GRCm39) D70E probably benign Het
Tmprss11e G A 5: 86,857,315 (GRCm39) Q333* probably null Het
Trpv1 A T 11: 73,145,128 (GRCm39) D430V probably damaging Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Zc3h6 A G 2: 128,839,712 (GRCm39) Y175C probably damaging Het
Other mutations in 1700030K09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:1700030K09Rik APN 8 73,209,193 (GRCm39) missense probably damaging 1.00
IGL01010:1700030K09Rik APN 8 73,199,059 (GRCm39) missense probably damaging 0.98
IGL01449:1700030K09Rik APN 8 73,198,693 (GRCm39) missense probably benign 0.10
IGL01714:1700030K09Rik APN 8 73,209,413 (GRCm39) critical splice donor site probably null
IGL03256:1700030K09Rik APN 8 73,199,043 (GRCm39) missense probably benign 0.01
IGL03275:1700030K09Rik APN 8 73,198,968 (GRCm39) missense probably damaging 1.00
R0417:1700030K09Rik UTSW 8 73,199,244 (GRCm39) missense probably damaging 0.97
R0501:1700030K09Rik UTSW 8 73,209,216 (GRCm39) missense probably benign 0.01
R1444:1700030K09Rik UTSW 8 73,205,230 (GRCm39) missense probably damaging 1.00
R1556:1700030K09Rik UTSW 8 73,203,477 (GRCm39) missense probably damaging 1.00
R2153:1700030K09Rik UTSW 8 73,208,959 (GRCm39) missense probably benign 0.01
R2154:1700030K09Rik UTSW 8 73,208,959 (GRCm39) missense probably benign 0.01
R2298:1700030K09Rik UTSW 8 73,209,247 (GRCm39) missense probably benign 0.08
R4787:1700030K09Rik UTSW 8 73,199,008 (GRCm39) nonsense probably null
R4860:1700030K09Rik UTSW 8 73,209,267 (GRCm39) missense possibly damaging 0.87
R4860:1700030K09Rik UTSW 8 73,209,267 (GRCm39) missense possibly damaging 0.87
R4994:1700030K09Rik UTSW 8 73,208,962 (GRCm39) missense probably benign 0.02
R5857:1700030K09Rik UTSW 8 73,203,369 (GRCm39) missense probably benign 0.04
R6256:1700030K09Rik UTSW 8 73,205,272 (GRCm39) missense probably damaging 1.00
R7129:1700030K09Rik UTSW 8 73,209,199 (GRCm39) missense probably damaging 1.00
R7366:1700030K09Rik UTSW 8 73,203,303 (GRCm39) missense possibly damaging 0.65
R7923:1700030K09Rik UTSW 8 73,198,755 (GRCm39) missense probably damaging 1.00
R8322:1700030K09Rik UTSW 8 73,199,219 (GRCm39) missense probably benign 0.32
R9109:1700030K09Rik UTSW 8 73,198,923 (GRCm39) missense probably benign 0.01
R9298:1700030K09Rik UTSW 8 73,198,923 (GRCm39) missense probably benign 0.01
R9409:1700030K09Rik UTSW 8 73,211,888 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- TTTGATGCCCAAAGAGGAGG -3'
(R):5'- TCCTCGTCACTGGCAGATTC -3'

Sequencing Primer
(F):5'- TGAGGCCTCCCACCATC -3'
(R):5'- CTTTCTTTGTGGGCAGCAGAGC -3'
Posted On 2015-03-18