Incidental Mutation 'R7220:5031439G07Rik'
ID 561768
Institutional Source Beutler Lab
Gene Symbol 5031439G07Rik
Ensembl Gene ENSMUSG00000036046
Gene Name RIKEN cDNA 5031439G07 gene
Synonyms
MMRRC Submission 045292-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R7220 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 84828137-84872503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84837337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 325 (H325Q)
Ref Sequence ENSEMBL: ENSMUSP00000128699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047144] [ENSMUST00000165743]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000047144
AA Change: H282Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037011
Gene: ENSMUSG00000036046
AA Change: H282Q

DomainStartEndE-ValueType
Pfam:DUF2045 25 264 7.4e-123 PFAM
low complexity region 347 362 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165743
AA Change: H325Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128699
Gene: ENSMUSG00000036046
AA Change: H325Q

DomainStartEndE-ValueType
Pfam:DUF2045 71 305 7.3e-103 PFAM
low complexity region 390 405 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 77,049,772 (GRCm39) I75V probably benign Het
Abca14 G A 7: 119,826,667 (GRCm39) D438N possibly damaging Het
Abca8a T A 11: 109,980,793 (GRCm39) I82F probably benign Het
Abca8b G T 11: 109,872,543 (GRCm39) N19K probably damaging Het
Acan A G 7: 78,757,896 (GRCm39) N506S Het
Alox12e C A 11: 70,206,731 (GRCm39) R652L probably benign Het
Atad3a A G 4: 155,838,498 (GRCm39) V173A probably benign Het
Atl3 A G 19: 7,506,433 (GRCm39) K326R probably null Het
Atm G T 9: 53,423,217 (GRCm39) C636* probably null Het
Atp2c2 G A 8: 120,472,300 (GRCm39) M451I probably benign Het
Best1 A T 19: 9,969,479 (GRCm39) M193K probably benign Het
Bmper G T 9: 23,310,651 (GRCm39) G362C probably damaging Het
Brd4 T A 17: 32,444,557 (GRCm39) Y139F unknown Het
Bzw2 A T 12: 36,173,950 (GRCm39) I108N possibly damaging Het
Cbs C A 17: 31,838,191 (GRCm39) V353L probably benign Het
Ceacam20 A G 7: 19,701,678 (GRCm39) T22A probably damaging Het
Ckap2l C T 2: 129,117,436 (GRCm39) E580K probably damaging Het
Ckmt1 T C 2: 121,189,374 (GRCm39) L15P possibly damaging Het
Clec18a G T 8: 111,808,204 (GRCm39) P66H probably benign Het
Cma1 G T 14: 56,180,120 (GRCm39) T95K probably benign Het
Csmd3 A G 15: 48,320,994 (GRCm39) V272A probably damaging Het
Ctnna3 A T 10: 64,670,368 (GRCm39) E632D probably benign Het
Ctsc T C 7: 87,946,361 (GRCm39) L130P probably damaging Het
Frmpd2 A T 14: 33,229,432 (GRCm39) R339S probably damaging Het
Frrs1 C A 3: 116,674,425 (GRCm39) S69* probably null Het
Gcc2 A T 10: 58,116,416 (GRCm39) E1108D probably benign Het
Gkn1 A T 6: 87,326,135 (GRCm39) probably null Het
Gtf2a1 A T 12: 91,534,498 (GRCm39) M252K probably benign Het
H2-Ob T C 17: 34,460,234 (GRCm39) F115S probably damaging Het
Ighv1-53 T C 12: 115,122,135 (GRCm39) N80S probably benign Het
Ighv1-67 T C 12: 115,567,666 (GRCm39) K82R probably benign Het
Ints1 A T 5: 139,747,828 (GRCm39) I1193N possibly damaging Het
Kmt2c A G 5: 25,549,923 (GRCm39) F1353L probably damaging Het
Luc7l C T 17: 26,472,219 (GRCm39) probably benign Het
Man1a A C 10: 53,796,331 (GRCm39) S454A possibly damaging Het
Mars2 C A 1: 55,277,222 (GRCm39) A275D probably damaging Het
Nrde2 A G 12: 100,097,178 (GRCm39) V874A probably benign Het
Ociad1 A G 5: 73,470,809 (GRCm39) T244A probably benign Het
Or10j2 A G 1: 173,097,811 (GRCm39) Y23C possibly damaging Het
Or3a10 A T 11: 73,935,589 (GRCm39) D170E possibly damaging Het
Or8c9 A T 9: 38,241,046 (GRCm39) L51F probably damaging Het
Ovca2 A G 11: 75,069,501 (GRCm39) C41R possibly damaging Het
Pacsin2 A T 15: 83,269,260 (GRCm39) D11E probably damaging Het
Pcdh15 G A 10: 74,178,441 (GRCm39) S566N possibly damaging Het
Pde3b A G 7: 114,135,297 (GRCm39) I1038M probably damaging Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Pkhd1 T A 1: 20,593,350 (GRCm39) T1588S possibly damaging Het
Ppig A G 2: 69,580,320 (GRCm39) D618G unknown Het
Pramel17 A G 4: 101,694,565 (GRCm39) F106S probably benign Het
Prorp G A 12: 55,351,200 (GRCm39) V170M possibly damaging Het
Prss51 A T 14: 64,333,444 (GRCm39) K18* probably null Het
Ptpra T A 2: 130,386,417 (GRCm39) D622E probably damaging Het
Ptprs A T 17: 56,725,988 (GRCm39) F1431L probably benign Het
Pxdn A G 12: 30,044,479 (GRCm39) I486V probably benign Het
Rnpc3 G A 3: 113,422,004 (GRCm39) A77V probably benign Het
Rtl10 T A 16: 18,320,026 (GRCm39) C85* probably null Het
Skint10 A G 4: 112,586,170 (GRCm39) S149P probably benign Het
Slc17a8 A C 10: 89,412,275 (GRCm39) V570G probably benign Het
Slc25a42 A T 8: 70,642,148 (GRCm39) V98E probably damaging Het
Smco2 A G 6: 146,760,363 (GRCm39) E73G probably benign Het
Ss18 T C 18: 14,812,477 (GRCm39) Y38C probably damaging Het
Sspo T A 6: 48,453,540 (GRCm39) C2909* probably null Het
Tbccd1 A G 16: 22,652,747 (GRCm39) Y125H probably benign Het
Tdrd9 A G 12: 111,980,888 (GRCm39) T446A probably damaging Het
Tecta G T 9: 42,255,183 (GRCm39) Q1672K probably benign Het
Tek G C 4: 94,692,541 (GRCm39) W216C probably damaging Het
Timm17a C T 1: 135,241,313 (GRCm39) probably null Het
Tlr4 A T 4: 66,758,188 (GRCm39) H327L probably benign Het
Trim33 T C 3: 103,234,109 (GRCm39) I449T possibly damaging Het
Vmn1r57 A G 7: 5,223,559 (GRCm39) N28S probably null Het
Vmn2r117 T A 17: 23,696,177 (GRCm39) H410L probably damaging Het
Vmn2r16 A G 5: 109,508,772 (GRCm39) E500G probably damaging Het
Wif1 A G 10: 120,926,019 (GRCm39) N245S possibly damaging Het
Other mutations in 5031439G07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00910:5031439G07Rik APN 15 84,840,020 (GRCm39) missense probably damaging 1.00
IGL02752:5031439G07Rik APN 15 84,840,042 (GRCm39) nonsense probably null
R0269:5031439G07Rik UTSW 15 84,838,201 (GRCm39) missense possibly damaging 0.92
R0899:5031439G07Rik UTSW 15 84,833,459 (GRCm39) missense probably damaging 1.00
R1302:5031439G07Rik UTSW 15 84,837,477 (GRCm39) missense probably damaging 1.00
R1442:5031439G07Rik UTSW 15 84,839,833 (GRCm39) splice site probably benign
R1468:5031439G07Rik UTSW 15 84,837,345 (GRCm39) missense probably damaging 1.00
R1468:5031439G07Rik UTSW 15 84,837,345 (GRCm39) missense probably damaging 1.00
R2299:5031439G07Rik UTSW 15 84,837,486 (GRCm39) missense possibly damaging 0.59
R5721:5031439G07Rik UTSW 15 84,844,798 (GRCm39) missense probably damaging 1.00
R5912:5031439G07Rik UTSW 15 84,839,897 (GRCm39) missense possibly damaging 0.84
R5971:5031439G07Rik UTSW 15 84,871,863 (GRCm39) missense possibly damaging 0.65
R6131:5031439G07Rik UTSW 15 84,844,793 (GRCm39) missense probably damaging 1.00
R6981:5031439G07Rik UTSW 15 84,833,798 (GRCm39) nonsense probably null
R7173:5031439G07Rik UTSW 15 84,833,848 (GRCm39) missense possibly damaging 0.93
R7554:5031439G07Rik UTSW 15 84,839,686 (GRCm39) missense probably damaging 1.00
R7956:5031439G07Rik UTSW 15 84,834,963 (GRCm39) missense possibly damaging 0.83
R8218:5031439G07Rik UTSW 15 84,839,668 (GRCm39) missense probably damaging 0.99
R8500:5031439G07Rik UTSW 15 84,871,836 (GRCm39) missense probably benign
R8501:5031439G07Rik UTSW 15 84,844,724 (GRCm39) missense probably damaging 1.00
R8880:5031439G07Rik UTSW 15 84,839,867 (GRCm39) missense possibly damaging 0.95
R9032:5031439G07Rik UTSW 15 84,844,782 (GRCm39) missense probably benign 0.34
Z1177:5031439G07Rik UTSW 15 84,834,843 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- TGCTGGTCAACCTCAGTCAG -3'
(R):5'- ATCCTGTGTCCTGAGAGAGG -3'

Sequencing Primer
(F):5'- AGCCAGTGAGACTCCCT -3'
(R):5'- TTCTGACGGAGGCCATGTC -3'
Posted On 2019-06-26