Incidental Mutation 'R2184:1700088E04Rik'
ID 237390
Institutional Source Beutler Lab
Gene Symbol 1700088E04Rik
Ensembl Gene ENSMUSG00000033029
Gene Name RIKEN cDNA 1700088E04 gene
Synonyms Mus EST J0827E04
MMRRC Submission 040186-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2184 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 79018855-79025451 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79019389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 184 (R184G)
Ref Sequence ENSEMBL: ENSMUSP00000140611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040320] [ENSMUST00000169604] [ENSMUST00000186053] [ENSMUST00000186459] [ENSMUST00000187550] [ENSMUST00000190730] [ENSMUST00000190509] [ENSMUST00000190959] [ENSMUST00000188562] [ENSMUST00000189761] [ENSMUST00000229031]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040320
SMART Domains Protein: ENSMUSP00000042053
Gene: ENSMUSG00000033039

DomainStartEndE-ValueType
CH 4 103 5.64e-19 SMART
low complexity region 113 135 N/A INTRINSIC
LIM 164 219 1.15e-5 SMART
low complexity region 241 250 N/A INTRINSIC
low complexity region 375 394 N/A INTRINSIC
low complexity region 414 467 N/A INTRINSIC
low complexity region 477 497 N/A INTRINSIC
low complexity region 515 530 N/A INTRINSIC
low complexity region 571 586 N/A INTRINSIC
DUF3585 685 825 5.07e-68 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169604
AA Change: R205G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129244
Gene: ENSMUSG00000033029
AA Change: R205G

DomainStartEndE-ValueType
Pfam:UPF0193 4 213 3.2e-92 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185944
Predicted Effect probably benign
Transcript: ENSMUST00000186053
SMART Domains Protein: ENSMUSP00000140261
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 58 3.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186459
SMART Domains Protein: ENSMUSP00000139974
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 54 5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186559
Predicted Effect unknown
Transcript: ENSMUST00000187550
AA Change: R144G
SMART Domains Protein: ENSMUSP00000140978
Gene: ENSMUSG00000033029
AA Change: R144G

DomainStartEndE-ValueType
Pfam:UPF0193 1 57 2.1e-22 PFAM
Pfam:UPF0193 54 155 8.3e-42 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000190730
AA Change: R144G
SMART Domains Protein: ENSMUSP00000139884
Gene: ENSMUSG00000033029
AA Change: R144G

DomainStartEndE-ValueType
Pfam:UPF0193 1 57 2.1e-22 PFAM
Pfam:UPF0193 54 155 8.3e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000190509
AA Change: R184G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140611
Gene: ENSMUSG00000033029
AA Change: R184G

DomainStartEndE-ValueType
Pfam:UPF0193 33 195 4.4e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000190959
AA Change: R205G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140347
Gene: ENSMUSG00000033029
AA Change: R205G

DomainStartEndE-ValueType
Pfam:UPF0193 1 216 1.5e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000188562
AA Change: R32G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230202
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230779
Predicted Effect probably benign
Transcript: ENSMUST00000189761
SMART Domains Protein: ENSMUSP00000139736
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 39 4.9e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229031
Predicted Effect probably benign
Transcript: ENSMUST00000191006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229694
Predicted Effect probably benign
Transcript: ENSMUST00000190400
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik C A 17: 35,879,115 (GRCm39) A151E probably benign Het
A930011G23Rik C T 5: 99,380,228 (GRCm39) R339Q possibly damaging Het
Abcd2 T C 15: 91,075,642 (GRCm39) Y57C probably benign Het
Adprhl1 A G 8: 13,292,559 (GRCm39) V244A probably benign Het
Agl T C 3: 116,574,426 (GRCm39) N753D probably benign Het
Amotl1 T A 9: 14,486,686 (GRCm39) M440L probably benign Het
Angpt2 A G 8: 18,742,132 (GRCm39) Y475H probably benign Het
Angpt4 A T 2: 151,780,874 (GRCm39) H374L probably damaging Het
Ank1 A T 8: 23,599,270 (GRCm39) T801S probably damaging Het
Ap5m1 G T 14: 49,323,752 (GRCm39) A481S probably damaging Het
AY358078 G T 14: 52,063,445 (GRCm39) G364W probably damaging Het
C4b C A 17: 34,956,676 (GRCm39) A641S probably benign Het
Capn13 T C 17: 73,672,943 (GRCm39) Y120C probably damaging Het
Cbx6 T C 15: 79,712,762 (GRCm39) T222A probably benign Het
Cckar T C 5: 53,860,254 (GRCm39) T192A probably damaging Het
Cdc42bpb T C 12: 111,262,478 (GRCm39) D30G probably damaging Het
Cdk18 A G 1: 132,043,690 (GRCm39) Y385H probably damaging Het
Cep170 A T 1: 176,584,542 (GRCm39) D612E probably benign Het
Dennd4b G T 3: 90,182,847 (GRCm39) R888L probably damaging Het
Egf A T 3: 129,517,007 (GRCm39) C373* probably null Het
Gabrb2 T C 11: 42,312,255 (GRCm39) probably null Het
Gle1 G T 2: 29,839,030 (GRCm39) A482S probably damaging Het
Gm10644 T C 8: 84,660,256 (GRCm39) T30A possibly damaging Het
Gmnn A G 13: 24,937,706 (GRCm39) Y95H probably damaging Het
Hectd3 T A 4: 116,858,100 (GRCm39) S643T possibly damaging Het
Hoga1 A G 19: 42,049,830 (GRCm39) Y225C probably damaging Het
Hook3 T C 8: 26,609,011 (GRCm39) E11G probably benign Het
Hsd17b1 C A 11: 100,969,357 (GRCm39) S30R probably benign Het
Htr3b G A 9: 48,858,544 (GRCm39) P112S probably damaging Het
Iqch T A 9: 63,432,351 (GRCm39) D348V probably damaging Het
Irgm2 A T 11: 58,111,254 (GRCm39) N327I probably benign Het
Itgb4 T C 11: 115,870,450 (GRCm39) I93T probably damaging Het
Lamb2 T C 9: 108,357,752 (GRCm39) F92L probably damaging Het
Lats2 T C 14: 57,929,016 (GRCm39) H953R probably damaging Het
Lrp1b T C 2: 40,620,714 (GRCm39) E3588G probably benign Het
Marchf1 A G 8: 66,840,075 (GRCm39) E286G probably benign Het
Mc2r G T 18: 68,541,196 (GRCm39) F32L probably benign Het
Mink1 C T 11: 70,494,623 (GRCm39) T268M probably damaging Het
Mta1 G A 12: 113,093,815 (GRCm39) probably null Het
Muc5b C A 7: 141,412,601 (GRCm39) S1849* probably null Het
Myh15 A G 16: 48,957,874 (GRCm39) E897G probably damaging Het
Nobox T C 6: 43,281,819 (GRCm39) Q418R possibly damaging Het
Obsl1 G T 1: 75,478,861 (GRCm39) Q626K probably benign Het
Or11h4 A G 14: 50,974,059 (GRCm39) S187P probably damaging Het
Or13a24 T C 7: 140,154,315 (GRCm39) V83A probably benign Het
Or1j12 A G 2: 36,343,046 (GRCm39) T150A probably benign Het
Or2w25 T A 11: 59,503,964 (GRCm39) M58K probably damaging Het
Or5w14 G A 2: 87,541,549 (GRCm39) R234C probably damaging Het
Or8k24 G A 2: 86,216,489 (GRCm39) T91I probably benign Het
Or9i1 A G 19: 13,839,399 (GRCm39) I81V probably benign Het
Pald1 C T 10: 61,182,915 (GRCm39) A345T possibly damaging Het
Pde8b G A 13: 95,162,723 (GRCm39) P800S probably damaging Het
Pgm2l1 G A 7: 99,917,362 (GRCm39) C493Y possibly damaging Het
Pias3 A G 3: 96,609,537 (GRCm39) S311G possibly damaging Het
Pkhd1l1 A G 15: 44,362,692 (GRCm39) N573D possibly damaging Het
Plaat3 A G 19: 7,556,583 (GRCm39) D128G probably damaging Het
Plxnc1 T G 10: 94,780,131 (GRCm39) S104R probably damaging Het
Pofut2 T A 10: 77,103,059 (GRCm39) F179I probably damaging Het
Prkcsh T A 9: 21,916,028 (GRCm39) C112S probably damaging Het
Prss32 G A 17: 24,078,297 (GRCm39) A328T probably benign Het
Ptgir G T 7: 16,642,708 (GRCm39) R103L probably damaging Het
Ptpn5 G A 7: 46,738,350 (GRCm39) S244F probably damaging Het
Rnpepl1 G A 1: 92,844,545 (GRCm39) V346I probably benign Het
Sh3rf1 T A 8: 61,825,688 (GRCm39) V561D probably damaging Het
Slc22a19 A T 19: 7,687,026 (GRCm39) Y160N probably benign Het
Sorbs3 A G 14: 70,428,880 (GRCm39) probably null Het
Sostdc1 T G 12: 36,367,295 (GRCm39) I157S probably damaging Het
Svil G T 18: 5,099,534 (GRCm39) R1777L probably damaging Het
Svil A T 18: 5,099,615 (GRCm39) E1804V probably damaging Het
Tasor T A 14: 27,188,141 (GRCm39) N862K possibly damaging Het
Thbs4 A G 13: 92,911,302 (GRCm39) S294P probably benign Het
Tle2 A G 10: 81,426,111 (GRCm39) Y750C probably damaging Het
Tmcc3 T C 10: 94,418,168 (GRCm39) L312P probably damaging Het
Tnip2 TCTCCT TCT 5: 34,656,957 (GRCm39) probably benign Het
Tnpo2 T A 8: 85,780,475 (GRCm39) M734K probably benign Het
Trmt2a A T 16: 18,070,859 (GRCm39) R531W probably benign Het
Ubn2 C T 6: 38,461,029 (GRCm39) R483W probably damaging Het
Zc3hav1 T A 6: 38,284,343 (GRCm39) Y924F probably damaging Het
Other mutations in 1700088E04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01721:1700088E04Rik APN 15 79,023,453 (GRCm39) missense possibly damaging 0.88
R1127:1700088E04Rik UTSW 15 79,019,403 (GRCm39) missense probably benign 0.36
R4832:1700088E04Rik UTSW 15 79,019,409 (GRCm39) missense probably damaging 1.00
R6870:1700088E04Rik UTSW 15 79,020,608 (GRCm39) missense probably benign 0.00
R7798:1700088E04Rik UTSW 15 79,019,932 (GRCm39) missense probably damaging 0.97
R9495:1700088E04Rik UTSW 15 79,019,842 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ACTAGGACACTGTTTCATGCC -3'
(R):5'- GCATCATCCTGGCTGAGATC -3'

Sequencing Primer
(F):5'- AAGCCATGTCATGATCTGGC -3'
(R):5'- TGGCTGAGATCTCCCAGGTAG -3'
Posted On 2014-10-02