Incidental Mutation 'R7558:1700093K21Rik'
ID 586003
Institutional Source Beutler Lab
Gene Symbol 1700093K21Rik
Ensembl Gene ENSMUSG00000020286
Gene Name RIKEN cDNA 1700093K21 gene
Synonyms b2b3025Clo
MMRRC Submission 045625-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R7558 (G1)
Quality Score 173.009
Status Validated
Chromosome 11
Chromosomal Location 23466203-23471155 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 23466285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000020527
SMART Domains Protein: ENSMUSP00000020527
Gene: ENSMUSG00000020286

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 null
Transcript: ENSMUST00000169264
SMART Domains Protein: ENSMUSP00000131204
Gene: ENSMUSG00000020286

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Pfam:DUF4642 50 196 1.3e-67 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (56/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A T 10: 14,307,351 (GRCm39) M817K probably damaging Het
Adh6b T A 3: 138,058,297 (GRCm39) D53E probably benign Het
Ap3d1 A G 10: 80,558,755 (GRCm39) V283A possibly damaging Het
Arhgap21 A G 2: 20,860,421 (GRCm39) Y1329H probably damaging Het
B3gnt9 T C 8: 105,981,304 (GRCm39) Y28C probably benign Het
Cactin CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG 10: 81,157,152 (GRCm39) probably benign Het
Chrd T A 16: 20,557,304 (GRCm39) V641E probably damaging Het
Clvs2 A T 10: 33,419,460 (GRCm39) I198N probably damaging Het
Cplane1 C T 15: 8,254,851 (GRCm39) R13C unknown Het
Dbndd2 T C 2: 164,332,136 (GRCm39) S120P probably benign Het
Dsg2 G A 18: 20,727,291 (GRCm39) V613I probably benign Het
Dsp A G 13: 38,352,742 (GRCm39) M207V probably benign Het
Fignl2 T C 15: 100,952,264 (GRCm39) E6G probably damaging Het
Fmod A G 1: 133,968,731 (GRCm39) Y257C probably benign Het
Foxk2 T C 11: 121,178,884 (GRCm39) S239P probably benign Het
Fstl5 C T 3: 76,337,092 (GRCm39) T217I possibly damaging Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gm45140 G A 6: 87,798,511 (GRCm39) S34F Het
H2-Q6 A G 17: 35,644,595 (GRCm39) E128G probably benign Het
Hmmr A G 11: 40,624,156 (GRCm39) F11L probably damaging Het
Igfbpl1 G T 4: 45,813,497 (GRCm39) N239K probably damaging Het
Itpr2 G T 6: 146,292,363 (GRCm39) D443E probably damaging Het
Kcnt2 A T 1: 140,450,928 (GRCm39) I736F probably damaging Het
Kctd11 A T 11: 69,770,416 (GRCm39) H207Q probably benign Het
Kif16b A T 2: 142,600,746 (GRCm39) D462E probably damaging Het
Kif5a G A 10: 127,083,948 (GRCm39) T81I probably damaging Het
Lemd2 C A 17: 27,423,137 (GRCm39) A86S probably benign Het
Lrp1b T C 2: 41,231,948 (GRCm39) D1174G Het
Lrrc8b G T 5: 105,629,577 (GRCm39) W641L probably damaging Het
Malt1 T C 18: 65,595,905 (GRCm39) C438R probably damaging Het
Marchf8 T C 6: 116,380,526 (GRCm39) F126L possibly damaging Het
Nalcn C A 14: 123,723,797 (GRCm39) probably null Het
Nyap2 A T 1: 81,247,088 (GRCm39) T679S probably benign Het
Or52n4b C G 7: 108,143,928 (GRCm39) Y65* probably null Het
Or5b3 T A 19: 13,388,355 (GRCm39) C141S probably damaging Het
Otog C A 7: 45,952,584 (GRCm39) P419Q probably damaging Het
Pabpc4 T G 4: 123,188,413 (GRCm39) S341A possibly damaging Het
Pikfyve T A 1: 65,311,782 (GRCm39) H2006Q probably benign Het
Ppp2r5e A T 12: 75,511,766 (GRCm39) V319D probably damaging Het
Ptk2b T C 14: 66,391,628 (GRCm39) S969G possibly damaging Het
Rasal2 G A 1: 157,003,406 (GRCm39) R436C probably damaging Het
Rpap1 A T 2: 119,601,735 (GRCm39) F742I probably benign Het
Ryr2 G A 13: 11,814,711 (GRCm39) T687M probably damaging Het
Sec16a A T 2: 26,329,746 (GRCm39) F7L Het
Slc14a2 A G 18: 78,235,334 (GRCm39) I143T probably benign Het
Slc22a26 T A 19: 7,762,651 (GRCm39) M430L possibly damaging Het
Smarcc1 C A 9: 109,976,184 (GRCm39) T157K probably damaging Het
Tmem87a A G 2: 120,204,991 (GRCm39) I375T probably benign Het
Tmprss15 T C 16: 78,800,302 (GRCm39) I609V possibly damaging Het
Tnk2 C A 16: 32,498,903 (GRCm39) Q739K probably benign Het
Trio T A 15: 27,831,480 (GRCm39) I1340F possibly damaging Het
Trpm6 T C 19: 18,756,029 (GRCm39) F91L probably damaging Het
Vax1 T C 19: 59,158,416 (GRCm39) T16A unknown Het
Vps13d T G 4: 144,881,150 (GRCm39) H1481P Het
Zbtb7a A G 10: 80,984,269 (GRCm39) *570W probably null 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
R5678:1700093K21Rik UTSW 11 23,466,529 (GRCm39) missense probably damaging 1.00
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
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'- ATGGTACCTGCAGCATGATC -3'
(R):5'- TCGAAGCTATGCTCGAGAAC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TCGAAGCTATGCTCGAGAACATAAG -3'
Posted On 2019-10-18