Incidental Mutation 'R6170:4930523C07Rik'
ID490355
Institutional Source Beutler Lab
Gene Symbol 4930523C07Rik
Ensembl Gene ENSMUSG00000090394
Gene NameRIKEN cDNA 4930523C07 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock #R6170 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location160044382-160080208 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 160075173 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 4 (N4K)
Ref Sequence ENSEMBL: ENSMUSP00000137410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097513]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000028061
SMART Domains Protein: ENSMUSP00000028061
Gene: ENSMUSG00000026729

DomainStartEndE-ValueType
low complexity region 60 73 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000060298
Predicted Effect possibly damaging
Transcript: ENSMUST00000097513
AA Change: N4K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137410
Gene: ENSMUSG00000090394
AA Change: N4K

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163892
SMART Domains Protein: ENSMUSP00000127485
Gene: ENSMUSG00000090394

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169600
Meta Mutation Damage Score 0.0648 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (68/71)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T A 6: 72,348,572 S90R probably benign Het
4930430A15Rik A G 2: 111,227,948 Y167H probably benign Het
5430419D17Rik A T 7: 131,174,487 probably null Het
Adgrl2 A G 3: 148,823,009 S1167P probably damaging Het
Akr1e1 T C 13: 4,602,724 D94G possibly damaging Het
Anln T C 9: 22,368,497 N466D probably benign Het
Atp9b T A 18: 80,877,347 I231L probably benign Het
Bpifb3 T A 2: 153,919,637 M2K unknown Het
Btbd3 T C 2: 138,278,942 L12P probably damaging Het
Btnl6 T A 17: 34,515,506 Y94F probably damaging Het
Cab39 T A 1: 85,818,455 L19* probably null Het
Cacna2d2 A G 9: 107,527,334 D1114G probably damaging Het
Cdh11 A G 8: 102,634,810 V632A probably benign Het
Cemip T G 7: 83,947,230 T1109P possibly damaging Het
Col7a1 C A 9: 108,966,443 P1522Q unknown Het
Colgalt1 C T 8: 71,621,870 L409F probably damaging Het
Crtc2 A G 3: 90,259,600 M125V probably benign Het
Cyp2b19 T G 7: 26,759,094 M78R possibly damaging Het
Cyp4a12a A C 4: 115,327,446 D308A possibly damaging Het
D16Ertd472e T C 16: 78,545,267 T242A probably benign Het
Ddah1 A G 3: 145,891,506 D166G probably benign Het
Dmtn T C 14: 70,617,355 D60G probably damaging Het
Dsg1a A T 18: 20,335,986 D607V probably damaging Het
Ebf1 T A 11: 44,883,885 N236K probably damaging Het
Emc1 A G 4: 139,366,378 T600A probably benign Het
Fam205a1 A G 4: 42,849,345 V937A probably benign Het
Fbxo33 T C 12: 59,204,649 N360S probably benign Het
Fbxw5 A G 2: 25,503,603 D72G possibly damaging Het
Fhad1 T A 4: 141,890,952 K1388* probably null Het
Fzd7 A G 1: 59,483,845 M296V probably benign Het
Gdpd3 T C 7: 126,771,164 I257T probably benign Het
Glt28d2 T G 3: 85,871,941 D75A possibly damaging Het
Gm14295 G A 2: 176,811,144 probably benign Het
Gm28729 A G 9: 96,519,441 I98T probably damaging Het
Gm4924 C T 10: 82,377,231 Q288* probably null Het
Gpr150 T C 13: 76,056,557 M90V probably damaging Het
Ireb2 G A 9: 54,887,372 V331I probably benign Het
Kdelc2 T C 9: 53,399,742 V481A possibly damaging Het
Lpcat2b A T 5: 107,433,894 Y363F probably benign Het
Me2 T C 18: 73,785,781 I410V probably benign Het
Naxe T C 3: 88,058,230 E58G probably damaging Het
Nlrp10 T A 7: 108,924,464 D603V probably benign Het
Nlrp1b T A 11: 71,156,079 Y1149F probably damaging Het
Nrg1 A G 8: 31,818,480 Y503H probably damaging Het
Nxpe4 C T 9: 48,392,804 P64S probably benign Het
Pkd1l3 A T 8: 109,623,179 T219S unknown Het
Plagl1 T C 10: 13,127,231 L81P probably damaging Het
Polq A G 16: 37,045,812 Q457R possibly damaging Het
Ppargc1a C A 5: 51,473,911 A459S probably damaging Het
Ppp1r13l A G 7: 19,370,437 D253G probably benign Het
Prl2c2 T A 13: 13,002,172 N55Y probably damaging Het
Prlr T C 15: 10,328,849 F470S probably benign Het
Serpina12 T C 12: 104,038,241 D44G probably benign Het
Sfxn1 T G 13: 54,106,507 S291R probably benign Het
Sipa1l1 A G 12: 82,341,672 D224G probably benign Het
Slc30a7 A G 3: 115,990,743 F123S probably damaging Het
Stox2 T A 8: 47,192,020 M802L probably benign Het
Tmem150a G A 6: 72,356,745 R30H probably benign Het
Tmem210 G A 2: 25,288,764 probably null Het
Tor3a T C 1: 156,656,573 N269S possibly damaging Het
Trp63 A C 16: 25,884,853 N423T probably benign Het
Vmn2r60 A G 7: 42,135,621 I86V possibly damaging Het
Vmn2r74 T C 7: 85,957,140 I333V probably benign Het
Vwa7 C A 17: 35,021,210 H385N possibly damaging Het
Wdr1 T C 5: 38,529,671 probably null Het
Wdr31 A G 4: 62,463,424 Y57H probably damaging Het
Zbtb44 T A 9: 31,053,382 H29Q probably damaging Het
Zfp532 T A 18: 65,624,438 S481T probably damaging Het
Zfp955b G T 17: 33,302,110 R184S probably benign Het
Other mutations in 4930523C07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02545:4930523C07Rik APN 1 160075424 missense probably damaging 0.97
R1023:4930523C07Rik UTSW 1 160077487 unclassified probably benign
R1707:4930523C07Rik UTSW 1 160070802 unclassified probably benign
R2128:4930523C07Rik UTSW 1 160075375 nonsense probably null
R2129:4930523C07Rik UTSW 1 160075375 nonsense probably null
R2147:4930523C07Rik UTSW 1 160075433 missense probably benign 0.04
R4135:4930523C07Rik UTSW 1 160077522 unclassified probably benign
R4418:4930523C07Rik UTSW 1 160044802 unclassified noncoding transcript
R4431:4930523C07Rik UTSW 1 160044579 unclassified noncoding transcript
R5222:4930523C07Rik UTSW 1 160044608 unclassified noncoding transcript
R6248:4930523C07Rik UTSW 1 160075408 missense possibly damaging 0.83
R6612:4930523C07Rik UTSW 1 160075234 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GCATAAAGACACGGACACTATG -3'
(R):5'- GAGCAGAGATCCAGAGGTCTTC -3'

Sequencing Primer
(F):5'- GAAAATAGACAGACCATTGCTATTGC -3'
(R):5'- AGAGATCCAGAGGTCTTCATCTTTC -3'
Posted On2017-10-10