Incidental Mutation 'R5892:4930524J08Rik'
ID502022
Institutional Source Beutler Lab
Gene Symbol 4930524J08Rik
Ensembl Gene ENSMUSG00000035364
Gene NameRIKEN cDNA 4930524J08 gene
Synonyms
MMRRC Submission 044093-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #R5892 (G1)
Quality Score22
Status Validated
Chromosome5
Chromosomal Location99979061-99979663 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to T at 99979265 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019128] [ENSMUST00000046721] [ENSMUST00000072750] [ENSMUST00000112939] [ENSMUST00000168396] [ENSMUST00000170912] [ENSMUST00000171786] [ENSMUST00000172361]
Predicted Effect probably benign
Transcript: ENSMUST00000019128
SMART Domains Protein: ENSMUSP00000019128
Gene: ENSMUSG00000000568

DomainStartEndE-ValueType
Pfam:CBFNT 1 79 1.3e-16 PFAM
RRM 98 170 3.85e-25 SMART
RRM 183 255 7.76e-21 SMART
low complexity region 262 268 N/A INTRINSIC
low complexity region 270 289 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000046721
AA Change: G69C
SMART Domains Protein: ENSMUSP00000043949
Gene: ENSMUSG00000035364
AA Change: G69C

DomainStartEndE-ValueType
low complexity region 40 58 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072750
SMART Domains Protein: ENSMUSP00000072533
Gene: ENSMUSG00000000568

DomainStartEndE-ValueType
low complexity region 7 66 N/A INTRINSIC
RRM 79 151 3.85e-25 SMART
RRM 164 236 7.76e-21 SMART
low complexity region 243 249 N/A INTRINSIC
low complexity region 251 270 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112939
SMART Domains Protein: ENSMUSP00000108561
Gene: ENSMUSG00000000568

DomainStartEndE-ValueType
low complexity region 7 66 N/A INTRINSIC
RRM 79 151 3.85e-25 SMART
RRM 164 236 7.76e-21 SMART
low complexity region 243 249 N/A INTRINSIC
low complexity region 251 266 N/A INTRINSIC
low complexity region 272 321 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166606
Predicted Effect probably benign
Transcript: ENSMUST00000168396
SMART Domains Protein: ENSMUSP00000131859
Gene: ENSMUSG00000000568

DomainStartEndE-ValueType
Pfam:CBFNT 1 79 2.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170912
Predicted Effect probably benign
Transcript: ENSMUST00000171106
SMART Domains Protein: ENSMUSP00000131262
Gene: ENSMUSG00000000568

DomainStartEndE-ValueType
RRM 8 80 3.85e-25 SMART
RRM 93 165 7.76e-21 SMART
low complexity region 172 178 N/A INTRINSIC
low complexity region 180 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171786
SMART Domains Protein: ENSMUSP00000125984
Gene: ENSMUSG00000000568

DomainStartEndE-ValueType
RRM 1 72 8.44e-22 SMART
internal_repeat_1 86 107 2.75e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000172361
SMART Domains Protein: ENSMUSP00000132735
Gene: ENSMUSG00000000568

DomainStartEndE-ValueType
Pfam:CBFNT 1 78 9.6e-16 PFAM
RRM 98 170 3.85e-25 SMART
RRM 183 255 7.76e-21 SMART
low complexity region 262 268 N/A INTRINSIC
low complexity region 270 285 N/A INTRINSIC
low complexity region 291 340 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,261,500 A893T probably damaging Het
Adtrp A T 13: 41,828,206 N30K probably benign Het
Alms1 T A 6: 85,620,903 S904T probably damaging Het
Cep170 T A 1: 176,755,387 probably null Het
Cntnap3 A G 13: 64,799,180 V145A probably damaging Het
Dclre1a T C 19: 56,547,140 E4G probably benign Het
Depdc1a G C 3: 159,526,669 A686P probably damaging Het
Dnah7b T C 1: 46,337,593 probably null Het
Enox1 A G 14: 77,486,017 probably benign Het
Fam107b A G 2: 3,778,564 E268G probably damaging Het
Fer1l6 A G 15: 58,564,068 S437G probably benign Het
Flnb C A 14: 7,907,183 T1252K probably damaging Het
Fubp1 A G 3: 152,218,314 probably benign Het
Gm20402 G A 3: 52,268,949 A50T probably benign Het
Gpr137b T C 13: 13,359,406 Y355C probably damaging Het
Gzmk C T 13: 113,173,922 probably null Het
Ino80 A T 2: 119,439,547 probably benign Het
Ints8 T C 4: 11,223,813 T677A probably damaging Het
Kat6a A G 8: 22,938,289 E1220G probably damaging Het
Lrfn5 A G 12: 61,843,418 T498A probably damaging Het
Lrp2 T A 2: 69,442,776 T4043S probably benign Het
Malrd1 A G 2: 15,614,267 N314S probably benign Het
Mfsd1 A G 3: 67,589,829 probably null Het
Muc1 C T 3: 89,230,993 P381S probably benign Het
Myh2 A T 11: 67,185,176 K730* probably null Het
Nat3 T A 8: 67,547,938 N156K probably benign Het
Nelfe T C 17: 34,854,669 probably benign Het
Nlrp1a A T 11: 71,099,645 L927Q probably damaging Het
P4ha2 A G 11: 54,120,188 Y343C probably damaging Het
Pclo A T 5: 14,521,171 Q190L probably damaging Het
Pde8a A G 7: 81,295,691 N183S probably damaging Het
Plekha2 C T 8: 25,052,365 V278I probably benign Het
Plekha6 G C 1: 133,272,307 R208P possibly damaging Het
Plxnb1 T C 9: 109,111,707 L1550P probably damaging Het
Ppox C T 1: 171,277,461 V385I probably damaging Het
Prdm16 T C 4: 154,323,259 D1170G possibly damaging Het
Prmt5 A T 14: 54,509,911 S470T probably damaging Het
Robo2 T A 16: 73,895,780 probably benign Het
Siglecg G A 7: 43,412,204 probably benign Het
Slc30a5 T C 13: 100,813,302 N367S probably damaging Het
Tex29 C T 8: 11,854,288 probably benign Het
Tmem117 T A 15: 94,638,139 V18E probably damaging Het
Tmtc2 C T 10: 105,413,505 M122I probably benign Het
Tpr T A 1: 150,407,400 N287K probably benign Het
Unc93b1 A T 19: 3,943,632 D358V probably damaging Het
Vrk2 A T 11: 26,534,372 probably benign Het
Wdr24 A T 17: 25,827,986 Q671L probably benign Het
Zfp110 C T 7: 12,848,478 T351I probably benign Het
Zfp963 T C 8: 69,743,377 D142G probably benign Het
Other mutations in 4930524J08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1103:4930524J08Rik UTSW 5 99979121 unclassified probably benign
R5666:4930524J08Rik UTSW 5 99979209 unclassified probably benign
R5670:4930524J08Rik UTSW 5 99979209 unclassified probably benign
R7323:4930524J08Rik UTSW 5 99979086 missense unknown
R7422:4930524J08Rik UTSW 5 99979209 unclassified probably benign
X0024:4930524J08Rik UTSW 5 99979295 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CCTTTAAAGAGGACCGGAAGTG -3'
(R):5'- CTCTTGTAATAACGGAGGCAAAGC -3'

Sequencing Primer
(F):5'- GAAGTGGCGTGCGCAAG -3'
(R):5'- AAAGCCGCCTTTGGACAG -3'
Posted On2018-02-19