Incidental Mutation 'R4119:1700013D24Rik'
ID315225
Institutional Source Beutler Lab
Gene Symbol 1700013D24Rik
Ensembl Gene ENSMUSG00000079346
Gene NameRIKEN cDNA 1700013D24 gene
Synonyms
MMRRC Submission 040992-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #R4119 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location124347593-124357086 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 124356904 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 39 (L39P)
Ref Sequence ENSEMBL: ENSMUSP00000108156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112537]
Predicted Effect probably damaging
Transcript: ENSMUST00000112537
AA Change: L39P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108156
Gene: ENSMUSG00000079346
AA Change: L39P

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 83 98 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203817
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (46/47)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,394,013 M138V probably benign Het
Abl1 T A 2: 31,801,727 I1067N probably damaging Het
Adam6a C T 12: 113,544,574 T189I probably benign Het
Ankfy1 G A 11: 72,714,484 probably null Het
Aplnr T C 2: 85,136,966 Y112H possibly damaging Het
Arhgap17 A G 7: 123,306,994 F313S probably damaging Het
Arid1b T C 17: 4,995,794 probably benign Het
Bcas1 G C 2: 170,378,815 P394A probably benign Het
Ccdc116 A G 16: 17,142,187 S213P probably damaging Het
Cdh15 T C 8: 122,863,423 V365A probably damaging Het
Cenpf A G 1: 189,653,045 I2346T probably benign Het
Chd7 A G 4: 8,785,658 probably benign Het
Ezh2 A C 6: 47,544,548 N390K probably benign Het
Fbxo7 C A 10: 86,021,895 probably benign Het
Fibin A G 2: 110,362,690 Y36H probably damaging Het
Gm597 A T 1: 28,777,973 V326D probably damaging Het
Gpr37 C T 6: 25,688,426 R224H possibly damaging Het
Hars2 A T 18: 36,790,488 N363I probably damaging Het
Ip6k2 G A 9: 108,805,648 R319Q probably benign Het
Itpr1 G A 6: 108,394,355 D1140N probably benign Het
Lrig2 A G 3: 104,467,195 V190A probably benign Het
Ltk T A 2: 119,757,948 probably benign Het
Morc2a C A 11: 3,683,868 T660N probably benign Het
Msh3 A G 13: 92,354,011 probably benign Het
Myo15b T C 11: 115,873,492 S1311P probably benign Het
Nbeal1 A T 1: 60,291,870 I2213L probably damaging Het
Olfr1122 T A 2: 87,387,843 M46K possibly damaging Het
Olfr1155 A G 2: 87,943,443 Y62H probably damaging Het
P2ry12 T C 3: 59,217,841 T138A probably benign Het
Pirb T C 7: 3,717,575 D308G probably damaging Het
Pkn3 A G 2: 30,083,037 probably benign Het
Ripor1 T A 8: 105,618,857 probably benign Het
Ryr2 T C 13: 11,779,267 T942A probably benign Het
Sptbn5 T A 2: 120,064,529 D798V possibly damaging Het
Synpo2 T A 3: 123,117,150 D282V probably damaging Het
Tnik T C 3: 28,666,175 F1287L probably damaging Het
Tshz1 T G 18: 84,014,189 K698T probably benign Het
Ttc23l A C 15: 10,539,920 V159G probably damaging Het
Urb2 T A 8: 124,047,240 D1503E probably benign Het
Usp29 T A 7: 6,962,806 N549K probably benign Het
Vmn2r39 G A 7: 9,023,674 H443Y probably benign Het
Zfp24 A G 18: 24,014,569 Y229H possibly damaging Het
Zfp472 T A 17: 32,978,215 Y421* probably null Het
Zkscan3 T C 13: 21,393,949 E256G possibly damaging Het
Other mutations in 1700013D24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02221:1700013D24Rik APN 6 124356948 missense probably benign 0.00
IGL03369:1700013D24Rik APN 6 124356421 missense possibly damaging 0.66
R0760:1700013D24Rik UTSW 6 124347702 missense possibly damaging 0.46
R1984:1700013D24Rik UTSW 6 124347819 missense probably damaging 0.99
R2146:1700013D24Rik UTSW 6 124347844 intron probably null
R4035:1700013D24Rik UTSW 6 124356920 missense probably benign 0.27
R6502:1700013D24Rik UTSW 6 124356949 missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- AAGACCTGTGAGCCATGGATC -3'
(R):5'- TCACCCATTGTCTCTGAAGC -3'

Sequencing Primer
(F):5'- ATGGATCACAGCCTTGAGC -3'
(R):5'- ACCCATTGTCTCTGAAGCTATGATG -3'
Posted On2015-05-14