Incidental Mutation 'R1700:4930402H24Rik'
ID 189628
Institutional Source Beutler Lab
Gene Symbol 4930402H24Rik
Ensembl Gene ENSMUSG00000027309
Gene Name RIKEN cDNA 4930402H24 gene
Synonyms
MMRRC Submission 039733-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1700 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 130706200-130906406 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 130709938 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 1010 (L1010F)
Ref Sequence ENSEMBL: ENSMUSP00000113481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044766] [ENSMUST00000119422]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000044766
AA Change: L1141F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: L1141F

DomainStartEndE-ValueType
low complexity region 134 145 N/A INTRINSIC
low complexity region 463 473 N/A INTRINSIC
low complexity region 533 545 N/A INTRINSIC
coiled coil region 1143 1171 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119422
AA Change: L1010F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: L1010F

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
low complexity region 332 342 N/A INTRINSIC
low complexity region 402 414 N/A INTRINSIC
coiled coil region 1012 1040 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122745
Predicted Effect probably benign
Transcript: ENSMUST00000138758
Predicted Effect probably benign
Transcript: ENSMUST00000139684
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,849,537 (GRCm38) F936L probably benign Het
Adamts12 T A 15: 11,152,057 (GRCm38) I211N probably benign Het
Adamts16 G A 13: 70,779,518 (GRCm38) probably benign Het
Alas1 C T 9: 106,239,646 (GRCm38) V293I possibly damaging Het
Ap1g1 T C 8: 109,853,612 (GRCm38) Y569H probably damaging Het
Apc2 A G 10: 80,312,769 (GRCm38) D1190G probably damaging Het
Astn2 G A 4: 65,746,354 (GRCm38) Q679* probably null Het
Atp2a1 T A 7: 126,462,909 (GRCm38) H5L probably damaging Het
Baiap3 T C 17: 25,249,328 (GRCm38) K279E probably damaging Het
C2cd2l G A 9: 44,316,612 (GRCm38) P111S probably benign Het
C7 T A 15: 5,002,792 (GRCm38) K646* probably null Het
Ccp110 C T 7: 118,735,313 (GRCm38) T1003I probably damaging Het
Cdh22 T C 2: 165,170,796 (GRCm38) D123G probably damaging Het
Cep295 C T 9: 15,340,883 (GRCm38) E397K probably damaging Het
Clip1 A G 5: 123,630,370 (GRCm38) V722A probably benign Het
Cpsf4l A G 11: 113,702,075 (GRCm38) F174S probably benign Het
Ctnna3 T C 10: 63,852,772 (GRCm38) C332R probably damaging Het
Cxcl10 A T 5: 92,347,855 (GRCm38) N76K probably damaging Het
Dnaja3 G A 16: 4,684,165 (GRCm38) R11K probably null Het
Efcab10 A G 12: 33,395,171 (GRCm38) T28A possibly damaging Het
Esrrg A G 1: 188,043,653 (GRCm38) R103G probably damaging Het
Exosc2 A G 2: 31,670,806 (GRCm38) K23E probably benign Het
Flot2 C T 11: 78,049,547 (GRCm38) S40L possibly damaging Het
Fsip2 T C 2: 82,991,737 (GRCm38) V5938A probably benign Het
Gclc A G 9: 77,776,289 (GRCm38) T143A probably benign Het
Gpr37 A G 6: 25,669,624 (GRCm38) V407A probably benign Het
Gucy2e A T 11: 69,232,058 (GRCm38) M497K probably benign Het
Herc1 T A 9: 66,450,678 (GRCm38) probably null Het
Hnrnpll A C 17: 80,034,105 (GRCm38) S502A probably benign Het
Ipo11 G T 13: 106,795,662 (GRCm38) T975N probably benign Het
Kif17 C T 4: 138,262,698 (GRCm38) Q66* probably null Het
Lrp10 T C 14: 54,469,752 (GRCm38) V682A possibly damaging Het
Lsmem1 A T 12: 40,180,678 (GRCm38) L75Q probably damaging Het
Med16 A T 10: 79,899,335 (GRCm38) Y430N probably benign Het
Med8 C T 4: 118,412,734 (GRCm38) S72L possibly damaging Het
Mex3a A G 3: 88,536,375 (GRCm38) T253A probably damaging Het
Myf6 T C 10: 107,493,359 (GRCm38) K242E probably damaging Het
Ncald T A 15: 37,397,343 (GRCm38) Y31F probably benign Het
Ndufa12 T A 10: 94,199,993 (GRCm38) Y48N probably damaging Het
Olfr1111 T G 2: 87,149,779 (GRCm38) N294T probably damaging Het
Olfr1145 T C 2: 87,810,768 (GRCm38) V316A probably benign Het
Olfr638 T A 7: 104,004,122 (GRCm38) Y282* probably null Het
Pde4dip T C 3: 97,703,323 (GRCm38) T1858A probably benign Het
Pgbd1 A G 13: 21,434,481 (GRCm38) L2P probably damaging Het
Piezo1 C T 8: 122,487,502 (GRCm38) R1642H probably damaging Het
Plxna1 A T 6: 89,357,008 (GRCm38) M213K probably damaging Het
Polr1b A G 2: 129,123,121 (GRCm38) N709S probably damaging Het
Pramel1 T A 4: 143,398,429 (GRCm38) W308R probably damaging Het
Prkag2 A T 5: 24,871,541 (GRCm38) I208N probably damaging Het
Ptpro T A 6: 137,443,594 (GRCm38) V1007D probably damaging Het
Rngtt T A 4: 33,330,864 (GRCm38) F156I probably damaging Het
Rpusd3 A G 6: 113,415,533 (GRCm38) *345Q probably null Het
Rrp1b A G 17: 32,057,204 (GRCm38) K575R probably benign Het
Shd G A 17: 55,974,307 (GRCm38) V250I probably damaging Het
Slc12a5 C A 2: 164,992,376 (GRCm38) N749K possibly damaging Het
Sorbs2 T A 8: 45,800,984 (GRCm38) V488D probably damaging Het
Sphkap G A 1: 83,277,515 (GRCm38) R838* probably null Het
Srsf4 C A 4: 131,900,560 (GRCm38) probably benign Het
Strn T C 17: 78,692,402 (GRCm38) Y135C probably damaging Het
Synm T C 7: 67,759,628 (GRCm38) M1V probably null Het
Tas1r3 T G 4: 155,861,570 (GRCm38) Q489P probably benign Het
Tas2r103 A T 6: 133,036,811 (GRCm38) N97K probably damaging Het
Tas2r113 A G 6: 132,893,792 (GRCm38) Y261C possibly damaging Het
Tex21 T C 12: 76,221,672 (GRCm38) E112G probably damaging Het
Trappc8 T C 18: 20,832,998 (GRCm38) S1128G probably damaging Het
Ubap1l A G 9: 65,371,743 (GRCm38) probably benign Het
Ubash3a A G 17: 31,215,044 (GRCm38) D121G probably damaging Het
Ubxn4 A G 1: 128,252,286 (GRCm38) I56V possibly damaging Het
Uri1 T C 7: 37,963,524 (GRCm38) I348M probably damaging Het
Usp21 C A 1: 171,283,722 (GRCm38) L379F probably damaging Het
Vmn1r159 T A 7: 22,842,965 (GRCm38) H214L probably damaging Het
Zdbf2 A G 1: 63,302,741 (GRCm38) E93G unknown Het
Other mutations in 4930402H24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:4930402H24Rik APN 2 130,784,457 (GRCm38) missense probably benign 0.00
IGL01093:4930402H24Rik APN 2 130,777,236 (GRCm38) missense probably benign 0.01
IGL01111:4930402H24Rik APN 2 130,736,598 (GRCm38) missense possibly damaging 0.66
IGL01146:4930402H24Rik APN 2 130,770,671 (GRCm38) critical splice donor site probably null
IGL01346:4930402H24Rik APN 2 130,791,846 (GRCm38) splice site probably benign
IGL01548:4930402H24Rik APN 2 130,814,259 (GRCm38) missense probably damaging 1.00
IGL02339:4930402H24Rik APN 2 130,739,465 (GRCm38) missense probably damaging 0.97
IGL02637:4930402H24Rik APN 2 130,814,307 (GRCm38) intron probably benign
IGL02926:4930402H24Rik APN 2 130,712,366 (GRCm38) missense probably benign 0.00
IGL02978:4930402H24Rik APN 2 130,727,162 (GRCm38) missense probably damaging 0.99
IGL03126:4930402H24Rik APN 2 130,791,995 (GRCm38) splice site probably null
IGL03387:4930402H24Rik APN 2 130,717,280 (GRCm38) missense probably damaging 1.00
best_times UTSW 2 130,736,576 (GRCm38) missense probably damaging 0.99
Hard_times UTSW 2 130,713,470 (GRCm38) missense probably benign 0.16
worst_times UTSW 2 130,713,414 (GRCm38) missense probably damaging 1.00
FR4304:4930402H24Rik UTSW 2 130,770,748 (GRCm38) small insertion probably benign
FR4342:4930402H24Rik UTSW 2 130,770,742 (GRCm38) small insertion probably benign
FR4589:4930402H24Rik UTSW 2 130,770,752 (GRCm38) small insertion probably benign
FR4589:4930402H24Rik UTSW 2 130,770,745 (GRCm38) small insertion probably benign
FR4737:4930402H24Rik UTSW 2 130,770,752 (GRCm38) small insertion probably benign
FR4976:4930402H24Rik UTSW 2 130,770,753 (GRCm38) small insertion probably benign
FR4976:4930402H24Rik UTSW 2 130,770,742 (GRCm38) small insertion probably benign
FR4976:4930402H24Rik UTSW 2 130,770,739 (GRCm38) small insertion probably benign
R0034:4930402H24Rik UTSW 2 130,736,572 (GRCm38) missense probably damaging 1.00
R0034:4930402H24Rik UTSW 2 130,736,572 (GRCm38) missense probably damaging 1.00
R0357:4930402H24Rik UTSW 2 130,712,946 (GRCm38) splice site probably benign
R0379:4930402H24Rik UTSW 2 130,785,546 (GRCm38) splice site probably benign
R0515:4930402H24Rik UTSW 2 130,740,488 (GRCm38) missense probably damaging 1.00
R0576:4930402H24Rik UTSW 2 130,713,470 (GRCm38) missense probably benign 0.16
R0811:4930402H24Rik UTSW 2 130,713,414 (GRCm38) missense probably damaging 1.00
R0812:4930402H24Rik UTSW 2 130,713,414 (GRCm38) missense probably damaging 1.00
R1334:4930402H24Rik UTSW 2 130,775,722 (GRCm38) splice site probably null
R1485:4930402H24Rik UTSW 2 130,748,683 (GRCm38) critical splice donor site probably null
R1486:4930402H24Rik UTSW 2 130,737,418 (GRCm38) missense probably damaging 1.00
R1670:4930402H24Rik UTSW 2 130,712,379 (GRCm38) missense probably damaging 1.00
R1678:4930402H24Rik UTSW 2 130,814,273 (GRCm38) missense probably damaging 0.99
R1742:4930402H24Rik UTSW 2 130,740,395 (GRCm38) splice site probably null
R2046:4930402H24Rik UTSW 2 130,810,917 (GRCm38) missense possibly damaging 0.61
R2374:4930402H24Rik UTSW 2 130,820,574 (GRCm38) missense probably damaging 1.00
R3878:4930402H24Rik UTSW 2 130,778,503 (GRCm38) missense possibly damaging 0.92
R3907:4930402H24Rik UTSW 2 130,736,576 (GRCm38) missense probably damaging 0.99
R4467:4930402H24Rik UTSW 2 130,767,647 (GRCm38) missense probably damaging 0.96
R4931:4930402H24Rik UTSW 2 130,741,873 (GRCm38) missense possibly damaging 0.58
R5098:4930402H24Rik UTSW 2 130,798,181 (GRCm38) missense probably damaging 0.99
R5191:4930402H24Rik UTSW 2 130,737,403 (GRCm38) missense possibly damaging 0.68
R5313:4930402H24Rik UTSW 2 130,709,268 (GRCm38) missense probably damaging 1.00
R5405:4930402H24Rik UTSW 2 130,712,460 (GRCm38) missense probably damaging 1.00
R5436:4930402H24Rik UTSW 2 130,764,499 (GRCm38) missense probably benign 0.16
R5522:4930402H24Rik UTSW 2 130,814,302 (GRCm38) intron probably benign
R5783:4930402H24Rik UTSW 2 130,739,083 (GRCm38) missense possibly damaging 0.59
R5931:4930402H24Rik UTSW 2 130,814,189 (GRCm38) missense probably damaging 1.00
R6145:4930402H24Rik UTSW 2 130,778,473 (GRCm38) missense probably benign
R6732:4930402H24Rik UTSW 2 130,810,820 (GRCm38) critical splice donor site probably null
R6938:4930402H24Rik UTSW 2 130,775,753 (GRCm38) missense probably benign 0.00
R7161:4930402H24Rik UTSW 2 130,806,788 (GRCm38) missense unknown
R7193:4930402H24Rik UTSW 2 130,806,788 (GRCm38) missense unknown
R7194:4930402H24Rik UTSW 2 130,806,788 (GRCm38) missense unknown
R7233:4930402H24Rik UTSW 2 130,806,788 (GRCm38) missense unknown
R7234:4930402H24Rik UTSW 2 130,806,788 (GRCm38) missense unknown
R7238:4930402H24Rik UTSW 2 130,806,788 (GRCm38) missense unknown
R7239:4930402H24Rik UTSW 2 130,806,788 (GRCm38) missense unknown
R7268:4930402H24Rik UTSW 2 130,806,788 (GRCm38) missense unknown
R7807:4930402H24Rik UTSW 2 130,710,865 (GRCm38) missense probably damaging 1.00
R7904:4930402H24Rik UTSW 2 130,792,003 (GRCm38) splice site probably null
R7999:4930402H24Rik UTSW 2 130,737,452 (GRCm38) missense probably benign 0.00
R8047:4930402H24Rik UTSW 2 130,775,099 (GRCm38) missense probably damaging 0.98
R8286:4930402H24Rik UTSW 2 130,717,328 (GRCm38) missense probably damaging 1.00
R8315:4930402H24Rik UTSW 2 130,770,735 (GRCm38) small deletion probably benign
R8439:4930402H24Rik UTSW 2 130,770,701 (GRCm38) missense probably damaging 1.00
R8925:4930402H24Rik UTSW 2 130,737,380 (GRCm38) nonsense probably null
R8927:4930402H24Rik UTSW 2 130,737,380 (GRCm38) nonsense probably null
R9070:4930402H24Rik UTSW 2 130,812,873 (GRCm38) missense possibly damaging 0.61
R9367:4930402H24Rik UTSW 2 130,739,460 (GRCm38) missense probably benign 0.00
R9558:4930402H24Rik UTSW 2 130,775,740 (GRCm38) missense probably damaging 1.00
R9565:4930402H24Rik UTSW 2 130,806,791 (GRCm38) missense unknown
R9758:4930402H24Rik UTSW 2 130,713,018 (GRCm38) missense probably damaging 0.99
RF027:4930402H24Rik UTSW 2 130,770,744 (GRCm38) small insertion probably benign
RF038:4930402H24Rik UTSW 2 130,770,744 (GRCm38) nonsense probably null
RF046:4930402H24Rik UTSW 2 130,770,734 (GRCm38) nonsense probably null
RF048:4930402H24Rik UTSW 2 130,770,734 (GRCm38) nonsense probably null
Z1177:4930402H24Rik UTSW 2 130,710,867 (GRCm38) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ACACCAACATGGAATGCGTGCC -3'
(R):5'- GCCAAATGAGGTTTTCTGGGTGAAC -3'

Sequencing Primer
(F):5'- CTGTGGGGTTTATCCCTGCC -3'
(R):5'- ggggctgggattaaaggtg -3'
Posted On 2014-05-14