Incidental Mutation 'R8077:1700093K21Rik'
ID629098
Institutional Source Beutler Lab
Gene Symbol 1700093K21Rik
Ensembl Gene ENSMUSG00000020286
Gene NameRIKEN cDNA 1700093K21 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R8077 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location23516203-23521155 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 23517237 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 132 (V132E)
Ref Sequence ENSEMBL: ENSMUSP00000020527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020527] [ENSMUST00000140122] [ENSMUST00000156629] [ENSMUST00000169264]
Predicted Effect probably benign
Transcript: ENSMUST00000020527
AA Change: V132E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020527
Gene: ENSMUSG00000020286
AA Change: V132E

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Pfam:DUF4642 50 196 1.1e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140122
Predicted Effect probably benign
Transcript: ENSMUST00000156629
Predicted Effect probably benign
Transcript: ENSMUST00000169264
AA Change: V132E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131204
Gene: ENSMUSG00000020286
AA Change: V132E

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Pfam:DUF4642 50 196 1.3e-67 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 95.4%
Validation Efficiency 100% (60/60)
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit congenital heart defects associated with heterotaxy, as well as thoracic and abdominal visceral organ situs anomalies, and misaligned sternal vertebrae. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik C T 9: 55,987,966 V315M probably damaging Het
9430007A20Rik T C 4: 144,528,556 I182T probably benign Het
Alb G C 5: 90,467,355 R242P probably damaging Het
Amotl1 A T 9: 14,550,502 V805D probably damaging Het
Arhgef3 T C 14: 27,385,924 L179P probably damaging Het
Atp8b3 G A 10: 80,531,024 L247F possibly damaging Het
Ccdc191 T C 16: 43,915,605 probably null Het
Celsr3 A G 9: 108,828,331 H671R probably benign Het
Cemip C A 7: 84,003,408 probably benign Het
Cfap97 G T 8: 46,170,445 V291F possibly damaging Het
Clca2 A G 3: 145,071,527 V861A possibly damaging Het
Cln8 A T 8: 14,894,950 D88V probably damaging Het
Col18a1 C A 10: 77,080,851 G330V unknown Het
Dis3 C T 14: 99,090,035 R344Q probably benign Het
Esyt2 T A 12: 116,342,228 S359R possibly damaging Het
Fbxo41 A T 6: 85,473,229 L844Q probably damaging Het
Fn1 G A 1: 71,612,602 T1372M probably damaging Het
Gbp5 G A 3: 142,507,739 R472H probably benign Het
Gm156 A G 6: 129,766,695 Y209H probably benign Het
Gm21964 C T 8: 110,110,103 T207M probably damaging Het
Gm4559 C T 7: 142,273,816 R183K unknown Het
Gm9507 T A 10: 77,811,770 E25V unknown Het
Gm9573 TCAGTGGTGGTCAGGATGGGGGTAGAGCCTGAGCCACTCCTGGATGCAGTGGTGGTCAGG TCAGTGGTGGTCAGG 17: 35,619,736 probably benign Het
Golgb1 A G 16: 36,918,633 I2486V probably damaging Het
Ifitm10 A T 7: 142,370,967 V45D probably damaging Het
Ift80 A G 3: 68,916,145 Y595H probably benign Het
Itga8 C T 2: 12,242,433 V326I probably benign Het
Kif14 A T 1: 136,471,448 H449L possibly damaging Het
Ldlrad1 G A 4: 107,209,491 A8T probably benign Het
Lrrc8b C A 5: 105,480,017 S76R possibly damaging Het
Lrrn1 T C 6: 107,568,822 L527P probably damaging Het
Luc7l T C 17: 26,255,073 V35A probably damaging Het
Luzp1 T G 4: 136,543,091 V875G probably damaging Het
Mcf2l G T 8: 12,998,494 probably null Het
Mcoln2 T C 3: 146,190,414 M497T probably damaging Het
Mrgprb4 A T 7: 48,198,455 S242T probably benign Het
Nipbl T A 15: 8,311,250 R1995S possibly damaging Het
Nup35 A G 2: 80,638,936 probably null Het
Olfr1394 A G 11: 49,160,485 D157G probably damaging Het
Olfr420 A G 1: 174,151,845 probably benign Het
Olfr45 C T 7: 140,691,133 S76F probably benign Het
Prdm12 A G 2: 31,642,304 K109E probably damaging Het
Ptch1 A T 13: 63,540,812 L444Q probably damaging Het
Qtrt1 C T 9: 21,420,096 R374* probably null Het
Rnase11 T C 14: 51,049,941 D52G probably damaging Het
Rps6 A G 4: 86,855,921 S148P probably benign Het
Rrm2b T C 15: 37,946,800 K86E possibly damaging Het
Sh2d1b2 A G 1: 170,248,173 K59E possibly damaging Het
Six6 T A 12: 72,940,326 W91R probably damaging Het
Slc23a2 C A 2: 132,089,172 A136S possibly damaging Het
Slc9a5 G A 8: 105,359,380 R593H probably damaging Het
Smbd1 T C 16: 32,810,434 M1V probably null Het
Ssbp4 T C 8: 70,598,997 Y239C probably damaging Het
Stox1 T C 10: 62,665,566 E405G probably damaging Het
Tmem192 A G 8: 64,965,544 I194V probably benign Het
Tns3 A T 11: 8,445,667 C1246S probably damaging Het
Ugt1a6a A T 1: 88,138,853 Q127L probably benign Het
Ush2a A G 1: 188,542,828 I1833V probably benign Het
Vmn2r66 A T 7: 85,006,885 Y308N probably benign Het
Vti1a T G 19: 55,576,485 L191R probably benign Het
Zbtb38 A T 9: 96,688,100 N310K probably benign Het
Other mutations in 1700093K21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:1700093K21Rik APN 11 23517213 missense probably null 1.00
IGL02897:1700093K21Rik APN 11 23517308 missense probably benign 0.00
R1155:1700093K21Rik UTSW 11 23517270 missense possibly damaging 0.95
R1677:1700093K21Rik UTSW 11 23517357 missense probably benign 0.16
R3983:1700093K21Rik UTSW 11 23517220 missense possibly damaging 0.87
R5485:1700093K21Rik UTSW 11 23517378 missense probably benign 0.05
R5589:1700093K21Rik UTSW 11 23518066 missense probably benign 0.25
R5678:1700093K21Rik UTSW 11 23516529 missense probably damaging 1.00
R5783:1700093K21Rik UTSW 11 23518787 missense probably damaging 0.99
R5996:1700093K21Rik UTSW 11 23518928 start codon destroyed probably null 0.53
R6072:1700093K21Rik UTSW 11 23517357 missense probably benign 0.16
R6520:1700093K21Rik UTSW 11 23517285 missense possibly damaging 0.63
R6930:1700093K21Rik UTSW 11 23516563 missense probably benign 0.03
R7432:1700093K21Rik UTSW 11 23518839 missense probably benign 0.07
R7558:1700093K21Rik UTSW 11 23516285 utr 3 prime probably null
Z1177:1700093K21Rik UTSW 11 23518144 critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GCCCTAGATAAGTGGCAAGAAC -3'
(R):5'- GTGGTAATGTCGACTAAGATGTATG -3'

Sequencing Primer
(F):5'- GATCCCAGGAGTATAAGAAAAACAAC -3'
(R):5'- GCCTAGCATTCTTGTGCA -3'
Posted On2020-06-30