Incidental Mutation 'R5996:1700093K21Rik'
ID 481139
Institutional Source Beutler Lab
Gene Symbol 1700093K21Rik
Ensembl Gene ENSMUSG00000020286
Gene Name RIKEN cDNA 1700093K21 gene
Synonyms b2b3025Clo
MMRRC Submission 044175-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5996 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 23466203-23471155 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 23468928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
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
AA Change: M1T

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020527
Gene: ENSMUSG00000020286
AA Change: M1T

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Pfam:DUF4642 50 196 1.1e-68 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000140122
AA Change: M1T
Predicted Effect probably null
Transcript: ENSMUST00000156629
AA Change: M1T

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably null
Transcript: ENSMUST00000169264
AA Change: M1T

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000131204
Gene: ENSMUSG00000020286
AA Change: M1T

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Pfam:DUF4642 50 196 1.3e-67 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 97% (69/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,636,353 (GRCm39) W741R probably damaging Het
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Acan A G 7: 78,761,068 (GRCm39) T1927A probably damaging Het
Agbl4 A G 4: 110,812,869 (GRCm39) probably null Het
Bltp1 T C 3: 36,985,265 (GRCm39) F865S probably benign Het
Ccr8 T A 9: 119,923,529 (GRCm39) C215S probably damaging Het
Cd209b T C 8: 3,968,688 (GRCm39) T314A probably benign Het
Cd244a T G 1: 171,409,208 (GRCm39) probably null Het
Cdh23 T C 10: 60,249,356 (GRCm39) E849G possibly damaging Het
Cep57 A G 9: 13,721,175 (GRCm39) V268A probably damaging Het
Clip4 T C 17: 72,163,305 (GRCm39) S626P probably damaging Het
Col19a1 C T 1: 24,367,152 (GRCm39) G477R probably damaging Het
Col4a4 T C 1: 82,433,449 (GRCm39) D1498G unknown Het
Coro6 T C 11: 77,357,322 (GRCm39) V177A probably benign Het
Crip3 T C 17: 46,742,210 (GRCm39) S202P possibly damaging Het
Cxcr2 T C 1: 74,197,619 (GRCm39) C38R probably damaging Het
Cyp4f13 C T 17: 33,148,447 (GRCm39) G327R possibly damaging Het
Dab2 C T 15: 6,464,792 (GRCm39) Q415* probably null Het
Dennd5b A G 6: 148,969,593 (GRCm39) F287L probably benign Het
Dlg4 G A 11: 69,908,057 (GRCm39) R6K probably benign Het
Edc4 A G 8: 106,614,033 (GRCm39) K429E probably damaging Het
Fam107b T A 2: 3,780,667 (GRCm39) probably null Het
Flt4 A T 11: 49,541,897 (GRCm39) D1360V probably damaging Het
Gm1043 A T 5: 37,317,168 (GRCm39) probably benign Het
Gm4894 A T 9: 49,189,970 (GRCm39) I82L unknown Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Gpr176 A C 2: 118,114,385 (GRCm39) probably null Het
Gtse1 T C 15: 85,748,381 (GRCm39) L262P probably benign Het
Il4ra T C 7: 125,166,393 (GRCm39) W46R probably damaging Het
Itga11 A G 9: 62,662,955 (GRCm39) Y557C probably benign Het
Kcnab2 A C 4: 152,519,287 (GRCm39) probably null Het
Kcnh7 G A 2: 63,014,441 (GRCm39) probably benign Het
Ly9 T A 1: 171,429,396 (GRCm39) Q230L probably damaging Het
Map2 C A 1: 66,454,043 (GRCm39) H978N possibly damaging Het
Map2k6 A G 11: 110,388,732 (GRCm39) I225V possibly damaging Het
Map3k13 A G 16: 21,723,995 (GRCm39) N326D possibly damaging Het
Mdga2 A G 12: 66,844,537 (GRCm39) F85L probably benign Het
Mmp13 C T 9: 7,274,269 (GRCm39) P192L probably damaging Het
Mrpl37 T C 4: 106,923,704 (GRCm39) T97A probably benign Het
Mycbpap C T 11: 94,404,420 (GRCm39) G121D probably benign Het
Nabp1 A G 1: 51,510,544 (GRCm39) S153P probably benign Het
Nsun3 A T 16: 62,590,049 (GRCm39) F222I probably benign Het
Or4q3 A G 14: 50,582,969 (GRCm39) V310A possibly damaging Het
Pcdhga4 A T 18: 37,818,991 (GRCm39) D180V probably benign Het
Pex6 C A 17: 47,025,384 (GRCm39) probably null Het
Phrf1 C A 7: 140,839,015 (GRCm39) probably benign Het
Ppp1r36 A G 12: 76,485,936 (GRCm39) T365A possibly damaging Het
Ranbp10 A G 8: 106,499,672 (GRCm39) M519T probably benign Het
Rfx4 G A 10: 84,675,881 (GRCm39) W32* probably null Het
Ryr1 T C 7: 28,723,666 (GRCm39) N4131S probably benign Het
Slc27a6 A G 18: 58,745,306 (GRCm39) E580G possibly damaging Het
Slc7a14 T C 3: 31,263,385 (GRCm39) D719G probably benign Het
Slfn9 A G 11: 82,878,310 (GRCm39) I273T possibly damaging Het
Spice1 A G 16: 44,205,037 (GRCm39) E781G probably benign Het
Sspo C T 6: 48,471,110 (GRCm39) P4686S possibly damaging Het
Stab1 G T 14: 30,861,508 (GRCm39) R2500S probably benign Het
Stox2 A T 8: 47,656,182 (GRCm39) M98K possibly damaging Het
Tacc2 T C 7: 130,225,213 (GRCm39) S633P probably damaging Het
Tex51 G T 18: 32,595,545 (GRCm39) probably benign Het
Tm9sf4 T C 2: 153,037,491 (GRCm39) probably null Het
Togaram2 T A 17: 72,011,778 (GRCm39) F486I probably damaging Het
Trappc12 A G 12: 28,797,113 (GRCm39) S140P possibly damaging Het
Ttc29 A T 8: 79,003,525 (GRCm39) N247I probably damaging Het
Uso1 A T 5: 92,340,589 (GRCm39) E668D probably benign Het
Vmn2r69 A T 7: 85,061,117 (GRCm39) probably null Het
Xirp2 T A 2: 67,341,994 (GRCm39) L1412I possibly damaging Het
Xrcc5 T A 1: 72,349,617 (GRCm39) D15E probably damaging Het
Zfp661 T C 2: 127,418,968 (GRCm39) K391E probably damaging Het
Zfp729b A G 13: 67,741,977 (GRCm39) I106T probably benign Het
Zfyve9 A C 4: 108,576,557 (GRCm39) S175A 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
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
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'- ACGTGCCTTGAGATCTACTTTG -3'
(R):5'- CAGTGGGTCCAAGTTCAGTC -3'

Sequencing Primer
(F):5'- GATCTACTTTGAGTATTAACATGGGC -3'
(R):5'- GGGTCCAAGTTCAGTCTCCCC -3'
Posted On 2017-06-26