Incidental Mutation 'R5678:1700093K21Rik'
ID 442897
Institutional Source Beutler Lab
Gene Symbol 1700093K21Rik
Ensembl Gene ENSMUSG00000020286
Gene Name RIKEN cDNA 1700093K21 gene
Synonyms b2b3025Clo
MMRRC Submission 043317-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5678 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 23466203-23471155 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23466529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 168 (T168A)
Ref Sequence ENSEMBL: ENSMUSP00000131204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020527] [ENSMUST00000140122] [ENSMUST00000156629] [ENSMUST00000169264]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000020527
AA Change: T168A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020527
Gene: ENSMUSG00000020286
AA Change: T168A

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 damaging
Transcript: ENSMUST00000169264
AA Change: T168A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131204
Gene: ENSMUSG00000020286
AA Change: T168A

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Pfam:DUF4642 50 196 1.3e-67 PFAM
Meta Mutation Damage Score 0.1641 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (55/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,384,010 (GRCm39) R652W probably damaging Het
A530016L24Rik T G 12: 112,463,306 (GRCm39) C43W probably damaging Het
Aatk T C 11: 119,900,980 (GRCm39) T1082A probably benign Het
Acsl1 T A 8: 46,945,887 (GRCm39) F7I probably benign Het
Adgb T G 10: 10,307,070 (GRCm39) S299R possibly damaging Het
Apob T C 12: 8,041,494 (GRCm39) F738L possibly damaging Het
Art3 T C 5: 92,540,409 (GRCm39) Y51H probably damaging Het
Atr C T 9: 95,833,540 (GRCm39) Q2597* probably null Het
Atrn T C 2: 130,811,936 (GRCm39) V627A probably damaging Het
Baz1a T C 12: 54,947,317 (GRCm39) K1111E probably damaging Het
Ccdc40 T C 11: 119,122,398 (GRCm39) S67P possibly damaging Het
Cd164 T C 10: 41,395,948 (GRCm39) probably null Het
Cep295 T C 9: 15,234,154 (GRCm39) D2214G probably damaging Het
Clcn1 A G 6: 42,284,199 (GRCm39) Y589C probably damaging Het
Col1a2 C T 6: 4,536,239 (GRCm39) A998V unknown Het
Csrnp2 T C 15: 100,379,685 (GRCm39) *535W probably null Het
Dhrs7 C T 12: 72,704,106 (GRCm39) G130D probably damaging Het
Dnah3 T C 7: 119,677,074 (GRCm39) T477A probably benign Het
Dscam A G 16: 96,592,100 (GRCm39) F725S probably benign Het
Dstyk T C 1: 132,381,029 (GRCm39) V508A probably benign Het
Eif4g3 A G 4: 137,879,053 (GRCm39) E595G probably damaging Het
Epha6 A T 16: 59,639,342 (GRCm39) V844E probably damaging Het
Esrp2 G A 8: 106,858,750 (GRCm39) A629V probably damaging Het
Fndc3b A G 3: 27,483,172 (GRCm39) S1009P probably benign Het
Gm8257 A T 14: 44,894,706 (GRCm39) I28N probably damaging Het
Ighv5-9-1 T C 12: 113,700,207 (GRCm39) E4G possibly damaging Het
Ints3 A G 3: 90,310,855 (GRCm39) V455A probably damaging Het
Lamtor2 A G 3: 88,458,101 (GRCm39) probably benign Het
Npy1r T C 8: 67,156,855 (GRCm39) C92R probably damaging Het
Nup210l T C 3: 90,098,266 (GRCm39) V1406A probably damaging Het
Or10g7 T C 9: 39,905,199 (GRCm39) V31A probably benign Het
Or4a75 A G 2: 89,447,625 (GRCm39) F304L probably benign Het
Or4c108 A T 2: 88,803,317 (GRCm39) L306* probably null Het
Prune2 A G 19: 17,096,032 (GRCm39) D512G probably damaging Het
Qdpr T C 5: 45,604,979 (GRCm39) E43G possibly damaging Het
Rps6ka5 T C 12: 100,691,135 (GRCm39) E2G unknown Het
Setd2 A G 9: 110,431,254 (GRCm39) T5A probably damaging Het
Slc66a2 T C 18: 80,300,249 (GRCm39) I40T probably damaging Het
Srpk2 TCA T 5: 23,729,604 (GRCm39) probably null Het
Sympk T C 7: 18,783,397 (GRCm39) probably null Het
Tasor CGCGGCGGCGGCGGCGG CGCGGCGGCGGCGGCGGCGGCGG 14: 27,151,080 (GRCm39) probably benign Het
Tchh A T 3: 93,352,933 (GRCm39) Q791L unknown Het
Tmed11 T C 5: 108,934,031 (GRCm39) D55G probably benign Het
Tnrc18 T C 5: 142,719,319 (GRCm39) D1989G unknown Het
Utp20 A T 10: 88,644,979 (GRCm39) H582Q probably benign Het
Utrn A G 10: 12,317,762 (GRCm39) I554T probably damaging Het
Zfp1005 A T 2: 150,110,425 (GRCm39) R372* probably null Het
Zfp119a T C 17: 56,175,336 (GRCm39) E53G probably benign Het
Other mutations in 1700093K21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:1700093K21Rik APN 11 23,467,213 (GRCm39) missense probably null 1.00
IGL02897:1700093K21Rik APN 11 23,467,308 (GRCm39) missense probably benign 0.00
R1155:1700093K21Rik UTSW 11 23,467,270 (GRCm39) missense possibly damaging 0.95
R1677:1700093K21Rik UTSW 11 23,467,357 (GRCm39) missense probably benign 0.16
R3983:1700093K21Rik UTSW 11 23,467,220 (GRCm39) missense possibly damaging 0.87
R5485:1700093K21Rik UTSW 11 23,467,378 (GRCm39) missense probably benign 0.05
R5589:1700093K21Rik UTSW 11 23,468,066 (GRCm39) missense probably benign 0.25
R5783:1700093K21Rik UTSW 11 23,468,787 (GRCm39) missense probably damaging 0.99
R5996:1700093K21Rik UTSW 11 23,468,928 (GRCm39) start codon destroyed probably null 0.53
R6072:1700093K21Rik UTSW 11 23,467,357 (GRCm39) missense probably benign 0.16
R6520:1700093K21Rik UTSW 11 23,467,285 (GRCm39) missense possibly damaging 0.63
R6930:1700093K21Rik UTSW 11 23,466,563 (GRCm39) missense probably benign 0.03
R7432:1700093K21Rik UTSW 11 23,468,839 (GRCm39) missense probably benign 0.07
R7558:1700093K21Rik UTSW 11 23,466,285 (GRCm39) splice site probably null
R8077:1700093K21Rik UTSW 11 23,467,237 (GRCm39) missense probably benign
R9688:1700093K21Rik UTSW 11 23,469,067 (GRCm39) critical splice donor site probably null
Z1177:1700093K21Rik UTSW 11 23,468,144 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- CCACGAAGGTAGAATCCTGTC -3'
(R):5'- CGTGTCAATGTAGGGAGTCAAG -3'

Sequencing Primer
(F):5'- CGAAGGTAGAATCCTGTCTGTATTTG -3'
(R):5'- GTCAAGTATGGTTGATTATCACTGC -3'
Posted On 2016-11-09