Incidental Mutation 'R6265:1700013G24Rik'
ID 506933
Institutional Source Beutler Lab
Gene Symbol 1700013G24Rik
Ensembl Gene ENSMUSG00000041399
Gene Name RIKEN cDNA 1700013G24 gene
Synonyms
MMRRC Submission 044438-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6265 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 137180607-137182772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 137181986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 47 (P47L)
Ref Sequence ENSEMBL: ENSMUSP00000043461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048893]
AlphaFold Q9DAC6
Predicted Effect probably damaging
Transcript: ENSMUST00000048893
AA Change: P47L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043461
Gene: ENSMUSG00000041399
AA Change: P47L

DomainStartEndE-ValueType
low complexity region 44 65 N/A INTRINSIC
low complexity region 181 203 N/A INTRINSIC
SCOP:d1i50b_ 216 261 3e-3 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T C 12: 84,063,687 (GRCm39) I265T probably benign Het
Amotl1 T C 9: 14,482,951 (GRCm39) D587G possibly damaging Het
Anks1b T G 10: 90,777,362 (GRCm39) D1117E probably damaging Het
Art4 T G 6: 136,831,886 (GRCm39) N85T probably damaging Het
Asb3 C A 11: 31,035,143 (GRCm39) Q462K probably benign Het
Atcay C T 10: 81,049,114 (GRCm39) E163K possibly damaging Het
Atp6v0e T C 17: 26,895,507 (GRCm39) V20A possibly damaging Het
Atp7b G A 8: 22,505,943 (GRCm39) Q520* probably null Het
Baat A T 4: 49,502,836 (GRCm39) D95E possibly damaging Het
Cars2 TCCCC TCCC 8: 11,579,599 (GRCm39) probably null Het
Ccdc24 G A 4: 117,728,374 (GRCm39) Q47* probably null Het
Cep170b C A 12: 112,710,993 (GRCm39) Q1488K probably damaging Het
Cldn24 A C 8: 48,275,374 (GRCm39) D66A probably benign Het
Cln5 C A 14: 103,310,663 (GRCm39) T110K probably damaging Het
Clvs2 C A 10: 33,404,511 (GRCm39) S235I possibly damaging Het
Col5a3 C T 9: 20,705,060 (GRCm39) G730R unknown Het
Crim1 C T 17: 78,677,514 (GRCm39) P905L probably benign Het
Cxxc4 T C 3: 133,963,824 (GRCm39) V356A probably benign Het
Dctn6 G T 8: 34,562,057 (GRCm39) N93K probably damaging Het
Dnah9 G A 11: 66,058,920 (GRCm39) A125V probably benign Het
Dnhd1 T C 7: 105,342,577 (GRCm39) I1307T probably benign Het
Dpy19l1 T A 9: 24,343,667 (GRCm39) I493F possibly damaging Het
Ebf2 A G 14: 67,661,509 (GRCm39) I546V probably benign Het
Fbll1 T C 11: 35,688,636 (GRCm39) E209G probably damaging Het
Foxj2 G A 6: 122,805,133 (GRCm39) A2T probably damaging Het
Foxs1 A T 2: 152,774,098 (GRCm39) C318* probably null Het
Gorab T C 1: 163,214,199 (GRCm39) T244A possibly damaging Het
Gtsf1l C A 2: 162,929,583 (GRCm39) probably benign Het
Herc1 T C 9: 66,279,298 (GRCm39) S69P probably benign Het
Hpca C T 4: 129,012,445 (GRCm39) W30* probably null Het
Ing3 C A 6: 21,953,813 (GRCm39) Q85K probably damaging Het
Klhdc8b T C 9: 108,325,624 (GRCm39) E264G probably damaging Het
Lair1 T A 7: 4,058,826 (GRCm39) probably benign Het
Lama1 T C 17: 68,057,650 (GRCm39) Y575H probably damaging Het
Lamtor2 C A 3: 88,458,020 (GRCm39) G29* probably null Het
Loxhd1 A T 18: 77,449,426 (GRCm39) D341V probably damaging Het
Lrp2 T A 2: 69,296,684 (GRCm39) D3290V probably damaging Het
Matn2 A T 15: 34,399,301 (GRCm39) D396V probably damaging Het
Me3 T A 7: 89,498,951 (GRCm39) D510E probably benign Het
Melk A G 4: 44,318,109 (GRCm39) Y170C probably damaging Het
Mgat2 T C 12: 69,231,567 (GRCm39) V47A probably benign Het
Mindy4 T C 6: 55,278,049 (GRCm39) I631T probably damaging Het
Myo5b T A 18: 74,710,511 (GRCm39) probably null Het
Myo7b A T 18: 32,131,203 (GRCm39) D521E probably damaging Het
Nlrp9b T A 7: 19,796,608 (GRCm39) F986I probably benign Het
Or8k39 A G 2: 86,563,299 (GRCm39) L219P probably damaging Het
Patj A G 4: 98,357,804 (GRCm39) D690G probably benign Het
Pias2 T C 18: 77,184,954 (GRCm39) S5P probably damaging Het
Reep4 A T 14: 70,785,143 (GRCm39) S150C probably damaging Het
Slc25a21 T C 12: 57,243,685 (GRCm39) R14G probably benign Het
Slc6a6 G C 6: 91,731,896 (GRCm39) R575T probably damaging Het
Speg T A 1: 75,383,323 (GRCm39) Y886* probably null Het
Tas2r103 A C 6: 133,013,494 (GRCm39) F191V probably damaging Het
Tbc1d19 A G 5: 53,995,266 (GRCm39) D145G probably benign Het
Tex47 T A 5: 7,355,461 (GRCm39) I214N probably damaging Het
Tnnt3 A T 7: 142,055,382 (GRCm39) D3V probably damaging Het
Trdv2-1 T G 14: 54,183,842 (GRCm39) S24A probably benign Het
Ubr4 A G 4: 139,179,951 (GRCm39) D3377G possibly damaging Het
Ugt3a1 A T 15: 9,361,665 (GRCm39) D147V probably damaging Het
Usp9y A T Y: 1,446,843 (GRCm39) D103E probably benign Homo
Vmn1r168 A G 7: 23,240,961 (GRCm39) I273V probably benign Het
Vmn2r61 T C 7: 41,915,915 (GRCm39) I176T probably benign Het
Vmn2r8 T A 5: 108,956,463 (GRCm39) D53V probably benign Het
Zbtb8os A T 4: 129,229,775 (GRCm39) probably benign Het
Zfp551 C T 7: 12,149,339 (GRCm39) R690Q probably damaging Het
Other mutations in 1700013G24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01547:1700013G24Rik APN 4 137,182,573 (GRCm39) missense possibly damaging 0.82
IGL02646:1700013G24Rik APN 4 137,182,101 (GRCm39) nonsense probably null
R0526:1700013G24Rik UTSW 4 137,182,535 (GRCm39) missense possibly damaging 0.92
R1449:1700013G24Rik UTSW 4 137,182,666 (GRCm39) missense possibly damaging 0.94
R3743:1700013G24Rik UTSW 4 137,182,348 (GRCm39) missense probably damaging 0.96
R5357:1700013G24Rik UTSW 4 137,182,463 (GRCm39) missense possibly damaging 0.90
R6586:1700013G24Rik UTSW 4 137,182,639 (GRCm39) missense possibly damaging 0.90
R6720:1700013G24Rik UTSW 4 137,181,997 (GRCm39) missense possibly damaging 0.94
R6988:1700013G24Rik UTSW 4 137,181,890 (GRCm39) missense probably damaging 1.00
R7640:1700013G24Rik UTSW 4 137,181,905 (GRCm39) missense probably damaging 0.99
R7825:1700013G24Rik UTSW 4 137,182,654 (GRCm39) missense probably damaging 1.00
R8905:1700013G24Rik UTSW 4 137,182,553 (GRCm39) missense probably benign
R9536:1700013G24Rik UTSW 4 137,182,623 (GRCm39) missense probably damaging 0.99
Z1176:1700013G24Rik UTSW 4 137,182,303 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTCACACCTCCGAAACTTG -3'
(R):5'- ATGCCTTTGATGAGCTGGTC -3'

Sequencing Primer
(F):5'- TTGACCCGGCCAGAAAGATGTC -3'
(R):5'- CTGTGCAGATCAGGCAGTG -3'
Posted On 2018-03-15