Incidental Mutation 'R8278:4930562C15Rik'
ID 638088
Institutional Source Beutler Lab
Gene Symbol 4930562C15Rik
Ensembl Gene ENSMUSG00000022518
Gene Name RIKEN cDNA 4930562C15 gene
Synonyms
MMRRC Submission 067701-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R8278 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 4653280-4685550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4668040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 477 (Q477L)
Ref Sequence ENSEMBL: ENSMUSP00000097784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100211] [ENSMUST00000175836] [ENSMUST00000177042]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000100211
AA Change: Q477L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518
AA Change: Q477L

DomainStartEndE-ValueType
coiled coil region 74 101 N/A INTRINSIC
coiled coil region 181 211 N/A INTRINSIC
internal_repeat_1 289 315 2.54e-5 PROSPERO
internal_repeat_1 314 341 2.54e-5 PROSPERO
low complexity region 360 377 N/A INTRINSIC
low complexity region 402 424 N/A INTRINSIC
low complexity region 452 469 N/A INTRINSIC
low complexity region 573 604 N/A INTRINSIC
low complexity region 616 627 N/A INTRINSIC
low complexity region 630 647 N/A INTRINSIC
low complexity region 652 672 N/A INTRINSIC
Pfam:DUF4795 745 960 1.7e-46 PFAM
low complexity region 1095 1109 N/A INTRINSIC
low complexity region 1111 1125 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175836
AA Change: Q260L
SMART Domains Protein: ENSMUSP00000135532
Gene: ENSMUSG00000022518
AA Change: Q260L

DomainStartEndE-ValueType
internal_repeat_1 72 98 1.04e-6 PROSPERO
internal_repeat_1 97 124 1.04e-6 PROSPERO
low complexity region 143 160 N/A INTRINSIC
low complexity region 185 207 N/A INTRINSIC
low complexity region 235 252 N/A INTRINSIC
internal_repeat_2 253 306 2.47e-5 PROSPERO
internal_repeat_2 297 351 2.47e-5 PROSPERO
low complexity region 356 387 N/A INTRINSIC
low complexity region 399 410 N/A INTRINSIC
low complexity region 413 430 N/A INTRINSIC
low complexity region 435 455 N/A INTRINSIC
coiled coil region 564 582 N/A INTRINSIC
low complexity region 590 601 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177042
AA Change: Q477L
SMART Domains Protein: ENSMUSP00000135160
Gene: ENSMUSG00000022518
AA Change: Q477L

DomainStartEndE-ValueType
coiled coil region 74 101 N/A INTRINSIC
coiled coil region 181 211 N/A INTRINSIC
internal_repeat_1 289 315 2.39e-6 PROSPERO
internal_repeat_1 314 341 2.39e-6 PROSPERO
low complexity region 360 377 N/A INTRINSIC
low complexity region 402 424 N/A INTRINSIC
low complexity region 452 469 N/A INTRINSIC
internal_repeat_2 470 523 5.51e-5 PROSPERO
internal_repeat_2 514 568 5.51e-5 PROSPERO
low complexity region 573 604 N/A INTRINSIC
low complexity region 616 627 N/A INTRINSIC
low complexity region 630 647 N/A INTRINSIC
low complexity region 652 672 N/A INTRINSIC
coiled coil region 781 799 N/A INTRINSIC
low complexity region 807 818 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180566
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 A T 1: 165,330,857 (GRCm39) D40V probably damaging Het
Cab39l T C 14: 59,776,562 (GRCm39) Y248H probably damaging Het
Casr G T 16: 36,336,011 (GRCm39) D99E probably damaging Het
Cdh16 T C 8: 105,345,107 (GRCm39) E364G probably benign Het
Cep104 C T 4: 154,068,122 (GRCm39) T189I possibly damaging Het
Cfap418 T A 4: 10,882,474 (GRCm39) probably null Het
Chd7 T A 4: 8,862,485 (GRCm39) probably null Het
Chit1 G A 1: 134,078,332 (GRCm39) R380Q probably benign Het
Cpne2 A G 8: 95,281,316 (GRCm39) K174R probably damaging Het
Dchs2 T A 3: 83,178,310 (GRCm39) I1121N probably damaging Het
Fgf6 A T 6: 126,992,781 (GRCm39) Y78F probably damaging Het
H2-T10 A T 17: 36,429,832 (GRCm39) N320K probably benign Het
Heatr3 A T 8: 88,883,361 (GRCm39) N398I possibly damaging Het
Hrh4 T C 18: 13,140,284 (GRCm39) S60P probably damaging Het
Ikbip A G 10: 90,932,190 (GRCm39) H278R probably benign Het
Jmy A T 13: 93,601,224 (GRCm39) I394N probably damaging Het
Klhl8 T C 5: 104,022,107 (GRCm39) E314G probably benign Het
Lhx9 A T 1: 138,766,324 (GRCm39) C164S probably damaging Het
Loxl3 G T 6: 83,025,697 (GRCm39) G352C probably damaging Het
Lrrk1 A G 7: 65,928,432 (GRCm39) F1232S probably benign Het
Mpnd A G 17: 56,319,469 (GRCm39) T311A probably benign Het
Mpp7 A T 18: 7,444,025 (GRCm39) D132E probably benign Het
Nck2 T C 1: 43,593,740 (GRCm39) S316P probably damaging Het
Nckap5 T C 1: 125,955,509 (GRCm39) S348G probably damaging Het
Nyap1 C T 5: 137,730,077 (GRCm39) R790H probably damaging Het
Or5b124 C T 19: 13,610,958 (GRCm39) T161I possibly damaging Het
Pdcd11 G A 19: 47,094,736 (GRCm39) V507I probably damaging Het
Pdzd2 T C 15: 12,375,995 (GRCm39) H1380R probably benign Het
Pgap1 C T 1: 54,529,430 (GRCm39) V763I probably benign Het
Pnma8b G T 7: 16,680,263 (GRCm39) V416L probably damaging Het
Prkn A T 17: 12,269,609 (GRCm39) N421Y probably benign Het
Prpf4 T C 4: 62,333,493 (GRCm39) probably null Het
Psmb5 C T 14: 54,855,342 (GRCm39) G36D probably benign Het
Ptprq A G 10: 107,522,239 (GRCm39) S571P possibly damaging Het
Rap1gap A C 4: 137,444,748 (GRCm39) S254R probably damaging Het
Rufy2 A T 10: 62,843,472 (GRCm39) D492V probably benign Het
Ryr2 C A 13: 11,610,392 (GRCm39) E4145* probably null Het
Sgsm1 A G 5: 113,407,958 (GRCm39) F898L probably damaging Het
Slc26a9 C A 1: 131,689,514 (GRCm39) A487D possibly damaging Het
Slc6a15 T C 10: 103,229,890 (GRCm39) probably null Het
Smad9 A T 3: 54,696,687 (GRCm39) T251S probably benign Het
Socs3 A T 11: 117,858,478 (GRCm39) C193* probably null Het
Sox6 T A 7: 115,076,199 (GRCm39) D813V probably damaging Het
Taf2 A T 15: 54,929,361 (GRCm39) L65* probably null Het
Taf6 G A 5: 138,178,097 (GRCm39) A468V probably benign Het
Tmem71 T C 15: 66,426,961 (GRCm39) D78G probably damaging Het
Tob2 T C 15: 81,735,288 (GRCm39) N227S probably benign Het
Trim34a C A 7: 103,898,623 (GRCm39) Q180K probably damaging Het
Ugt1a9 T C 1: 87,999,378 (GRCm39) L276P possibly damaging Het
Wdr33 G A 18: 31,960,405 (GRCm39) R23Q possibly damaging Het
Wnt7b T G 15: 85,427,887 (GRCm39) N189H Het
Zfp609 G A 9: 65,604,804 (GRCm39) A1308V possibly damaging Het
Other mutations in 4930562C15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00936:4930562C15Rik APN 16 4,682,510 (GRCm39) missense probably benign 0.31
IGL01610:4930562C15Rik APN 16 4,669,429 (GRCm39) splice site probably benign
IGL02869:4930562C15Rik APN 16 4,685,323 (GRCm39) missense possibly damaging 0.68
IGL03242:4930562C15Rik APN 16 4,667,189 (GRCm39) missense unknown
R0063:4930562C15Rik UTSW 16 4,678,912 (GRCm39) nonsense probably null
R0063:4930562C15Rik UTSW 16 4,678,912 (GRCm39) nonsense probably null
R0083:4930562C15Rik UTSW 16 4,667,406 (GRCm39) missense unknown
R0565:4930562C15Rik UTSW 16 4,682,200 (GRCm39) missense probably benign 0.22
R0630:4930562C15Rik UTSW 16 4,668,803 (GRCm39) missense possibly damaging 0.90
R0734:4930562C15Rik UTSW 16 4,668,198 (GRCm39) missense probably benign 0.01
R1200:4930562C15Rik UTSW 16 4,667,536 (GRCm39) missense unknown
R1738:4930562C15Rik UTSW 16 4,682,475 (GRCm39) missense probably damaging 1.00
R1775:4930562C15Rik UTSW 16 4,669,422 (GRCm39) splice site probably null
R1945:4930562C15Rik UTSW 16 4,653,549 (GRCm39) missense unknown
R2132:4930562C15Rik UTSW 16 4,653,835 (GRCm39) missense unknown
R2445:4930562C15Rik UTSW 16 4,682,261 (GRCm39) splice site probably null
R2696:4930562C15Rik UTSW 16 4,668,228 (GRCm39) missense probably benign 0.04
R4729:4930562C15Rik UTSW 16 4,667,187 (GRCm39) missense unknown
R4779:4930562C15Rik UTSW 16 4,667,613 (GRCm39) missense unknown
R4806:4930562C15Rik UTSW 16 4,667,536 (GRCm39) missense unknown
R4808:4930562C15Rik UTSW 16 4,667,536 (GRCm39) missense unknown
R4876:4930562C15Rik UTSW 16 4,667,536 (GRCm39) missense unknown
R4931:4930562C15Rik UTSW 16 4,678,910 (GRCm39) missense possibly damaging 0.47
R4956:4930562C15Rik UTSW 16 4,672,816 (GRCm39) missense probably damaging 0.99
R5085:4930562C15Rik UTSW 16 4,653,837 (GRCm39) nonsense probably null
R5203:4930562C15Rik UTSW 16 4,653,462 (GRCm39) missense unknown
R5229:4930562C15Rik UTSW 16 4,667,915 (GRCm39) missense possibly damaging 0.73
R5461:4930562C15Rik UTSW 16 4,682,227 (GRCm39) missense probably damaging 1.00
R5462:4930562C15Rik UTSW 16 4,682,227 (GRCm39) missense probably damaging 1.00
R5464:4930562C15Rik UTSW 16 4,682,227 (GRCm39) missense probably damaging 1.00
R5595:4930562C15Rik UTSW 16 4,682,143 (GRCm39) missense probably benign 0.01
R6054:4930562C15Rik UTSW 16 4,653,729 (GRCm39) missense unknown
R6405:4930562C15Rik UTSW 16 4,669,742 (GRCm39) missense probably damaging 0.97
R6859:4930562C15Rik UTSW 16 4,669,799 (GRCm39) missense possibly damaging 0.86
R7124:4930562C15Rik UTSW 16 4,682,196 (GRCm39) missense probably benign 0.02
R7139:4930562C15Rik UTSW 16 4,668,048 (GRCm39) missense probably benign 0.00
R7182:4930562C15Rik UTSW 16 4,667,578 (GRCm39) missense unknown
R7219:4930562C15Rik UTSW 16 4,667,508 (GRCm39) missense unknown
R7366:4930562C15Rik UTSW 16 4,653,633 (GRCm39) missense unknown
R7592:4930562C15Rik UTSW 16 4,667,138 (GRCm39) missense unknown
R7759:4930562C15Rik UTSW 16 4,682,514 (GRCm39) missense probably benign 0.01
R7789:4930562C15Rik UTSW 16 4,682,175 (GRCm39) missense probably benign 0.01
R7873:4930562C15Rik UTSW 16 4,684,091 (GRCm39) missense probably benign
R7916:4930562C15Rik UTSW 16 4,682,454 (GRCm39) nonsense probably null
R8093:4930562C15Rik UTSW 16 4,669,368 (GRCm39) missense possibly damaging 0.86
R8169:4930562C15Rik UTSW 16 4,684,082 (GRCm39) missense probably benign 0.00
R8372:4930562C15Rik UTSW 16 4,682,152 (GRCm39) missense probably damaging 0.99
R8493:4930562C15Rik UTSW 16 4,653,453 (GRCm39) start codon destroyed unknown
R8549:4930562C15Rik UTSW 16 4,681,061 (GRCm39) critical splice donor site probably null
R8947:4930562C15Rik UTSW 16 4,665,292 (GRCm39) missense unknown
R9137:4930562C15Rik UTSW 16 4,685,312 (GRCm39) missense probably benign
R9339:4930562C15Rik UTSW 16 4,667,521 (GRCm39) missense unknown
R9422:4930562C15Rik UTSW 16 4,667,153 (GRCm39) missense
R9561:4930562C15Rik UTSW 16 4,680,980 (GRCm39) missense possibly damaging 0.52
R9618:4930562C15Rik UTSW 16 4,667,418 (GRCm39) missense unknown
R9747:4930562C15Rik UTSW 16 4,668,711 (GRCm39) missense probably damaging 1.00
R9773:4930562C15Rik UTSW 16 4,668,057 (GRCm39) missense possibly damaging 0.86
X0028:4930562C15Rik UTSW 16 4,685,231 (GRCm39) missense possibly damaging 0.83
Z1176:4930562C15Rik UTSW 16 4,684,112 (GRCm39) missense possibly damaging 0.54
Predicted Primers PCR Primer
(F):5'- AAGGTCCACTTCAGCCTATGGG -3'
(R):5'- TGACTTCAGGAGCCTCATCTTTG -3'

Sequencing Primer
(F):5'- CCCAGTGGTACCCAAATA -3'
(R):5'- AGGAGCCTCATCTTTGGTGCC -3'
Posted On 2020-07-28