Incidental Mutation 'R8329:4933430I17Rik'
ID644243
Institutional Source Beutler Lab
Gene Symbol 4933430I17Rik
Ensembl Gene ENSMUSG00000058046
Gene NameRIKEN cDNA 4933430I17 gene
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8329 (G1)
Quality Score225.009
Status Validated
Chromosome4
Chromosomal Location62525369-62547993 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 62543741 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000050465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062145]
Predicted Effect probably null
Transcript: ENSMUST00000062145
SMART Domains Protein: ENSMUSP00000050465
Gene: ENSMUSG00000058046

DomainStartEndE-ValueType
Pfam:DUF4647 22 481 7.3e-182 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 104,099,461 F96L possibly damaging Het
Aco1 T C 4: 40,186,376 I596T possibly damaging Het
Aff3 G A 1: 38,205,054 R879W probably benign Het
Apob A G 12: 8,011,135 R3206G probably damaging Het
Atg7 T A 6: 114,686,096 D224E possibly damaging Het
Capn12 T C 7: 28,883,201 F167S probably damaging Het
Ccdc3 T G 2: 5,229,037 V224G probably damaging Het
Ces4a G A 8: 105,148,082 V452I probably damaging Het
Cherp G A 8: 72,462,008 R834C Het
Clptm1l T A 13: 73,612,428 I310N probably damaging Het
Cog3 A T 14: 75,740,563 D230E probably damaging Het
Crb1 T A 1: 139,237,267 I1101F probably damaging Het
Cts6 A T 13: 61,195,468 M313K probably damaging Het
Cyp2c66 T A 19: 39,186,462 C435* probably null Het
Defb13 A G 8: 21,948,546 E40G probably benign Het
Dis3l T C 9: 64,311,830 D606G possibly damaging Het
Dopey2 T C 16: 93,771,787 L1579P probably damaging Het
Foxa3 A G 7: 19,014,184 V339A probably benign Het
Gcn1l1 G A 5: 115,609,862 G1776E probably damaging Het
Gls2 A G 10: 128,201,285 T232A probably benign Het
Gm853 C T 4: 130,215,363 V295M possibly damaging Het
Gprc6a A T 10: 51,627,259 Y169* probably null Het
Guca2b T C 4: 119,658,804 S18G unknown Het
Hars2 A G 18: 36,789,235 D301G possibly damaging Het
Haus5 T A 7: 30,659,559 Q226L possibly damaging Het
Hc G A 2: 35,012,898 probably null Het
Hivep2 T C 10: 14,128,267 V203A probably damaging Het
Hoxc8 A G 15: 102,991,111 Y111C probably damaging Het
Hoxd13 G T 2: 74,668,317 R3L probably benign Het
Hspa8 T G 9: 40,802,601 I130S probably damaging Het
Ier5l C A 2: 30,472,849 C388F possibly damaging Het
Lmx1a A G 1: 167,689,803 N10S probably benign Het
Map2 T C 1: 66,415,113 I1054T probably benign Het
Me1 C T 9: 86,619,737 D268N probably damaging Het
Muc6 G A 7: 141,640,258 P1501S unknown Het
Myo1d T C 11: 80,638,074 M641V probably benign Het
Nuggc G A 14: 65,641,282 R667K probably benign Het
Olfr62 A C 4: 118,666,407 N297H probably damaging Het
Olfr742 T C 14: 50,515,558 F118S probably damaging Het
Oprl1 T A 2: 181,718,924 C231S probably damaging Het
Pard3b C A 1: 62,637,798 Q1163K probably benign Het
Pik3c2a T C 7: 116,418,048 Y158C probably damaging Het
Prune2 T G 19: 17,121,265 S1378A probably benign Het
Ralgps2 G T 1: 156,884,540 T158K probably damaging Het
Rbm42 T A 7: 30,645,157 E227V unknown Het
Ripor3 T C 2: 167,983,199 R797G possibly damaging Het
Ryr3 T A 2: 112,662,510 H3764L possibly damaging Het
Sbno2 T C 10: 80,064,387 Y541C probably damaging Het
Scn5a A G 9: 119,535,964 V396A probably damaging Het
Slc36a3 A G 11: 55,148,583 L73P probably damaging Het
Spag16 T C 1: 69,895,248 I278T probably benign Het
Stx18 T A 5: 38,128,106 L274* probably null Het
Terb1 A T 8: 104,484,371 N341K probably damaging Het
Timm29 A G 9: 21,593,705 Y223C probably damaging Het
Tmprss2 T A 16: 97,568,465 M370L probably benign Het
Tmtc3 T A 10: 100,447,434 N753I probably damaging Het
Tnpo3 A T 6: 29,558,833 C699* probably null Het
Trav5d-4 G A 14: 53,001,751 W13* probably null Het
Trdn A G 10: 33,444,078 probably null Het
Tsg101 A T 7: 46,909,060 Y68N probably damaging Het
Ttn A G 2: 76,833,718 V11649A unknown Het
Wnk2 A T 13: 49,095,438 V379D probably damaging Het
Xpnpep1 A G 19: 53,002,472 probably null Het
Yme1l1 C T 2: 23,164,585 Q139* probably null Het
Other mutations in 4933430I17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:4933430I17Rik APN 4 62532666 splice site probably benign
IGL00326:4933430I17Rik APN 4 62543744 splice site probably null
IGL01526:4933430I17Rik APN 4 62532621 missense possibly damaging 0.71
IGL02152:4933430I17Rik APN 4 62542754 missense possibly damaging 0.93
IGL03153:4933430I17Rik APN 4 62547326 missense possibly damaging 0.85
R0281:4933430I17Rik UTSW 4 62546067 nonsense probably null
R0436:4933430I17Rik UTSW 4 62543445 splice site probably benign
R1459:4933430I17Rik UTSW 4 62532341 missense probably damaging 0.99
R1807:4933430I17Rik UTSW 4 62542756 nonsense probably null
R1930:4933430I17Rik UTSW 4 62532282 missense possibly damaging 0.83
R1958:4933430I17Rik UTSW 4 62538909 missense probably benign 0.09
R2118:4933430I17Rik UTSW 4 62538872 missense possibly damaging 0.93
R2119:4933430I17Rik UTSW 4 62538872 missense possibly damaging 0.93
R2124:4933430I17Rik UTSW 4 62538872 missense possibly damaging 0.93
R4323:4933430I17Rik UTSW 4 62547311 missense probably damaging 0.98
R4592:4933430I17Rik UTSW 4 62538927 missense possibly damaging 0.93
R5708:4933430I17Rik UTSW 4 62525869 missense probably benign 0.01
R6576:4933430I17Rik UTSW 4 62532605 missense possibly damaging 0.71
R7506:4933430I17Rik UTSW 4 62532261 missense possibly damaging 0.51
R7953:4933430I17Rik UTSW 4 62532659 missense probably null 0.71
R8348:4933430I17Rik UTSW 4 62542785 critical splice donor site probably null
R8448:4933430I17Rik UTSW 4 62542785 critical splice donor site probably null
R8699:4933430I17Rik UTSW 4 62532278 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GTAGAGTCTTGAGGGAAGCCTG -3'
(R):5'- CTATCCAGTTTGAGGATGACCCG -3'

Sequencing Primer
(F):5'- GTACCTAGGAGGAGGGTTCTC -3'
(R):5'- TGAGGATGACCCGGGGTG -3'
Posted On2020-09-02