Incidental Mutation 'R4257:4930451I11Rik'
ID321862
Institutional Source Beutler Lab
Gene Symbol 4930451I11Rik
Ensembl Gene ENSMUSG00000045989
Gene NameRIKEN cDNA 4930451I11 gene
Synonyms
MMRRC Submission 041070-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R4257 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location126830468-126831639 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 126831490 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061695] [ENSMUST00000079423] [ENSMUST00000098032] [ENSMUST00000205324] [ENSMUST00000205722] [ENSMUST00000207020]
Predicted Effect probably benign
Transcript: ENSMUST00000061695
SMART Domains Protein: ENSMUSP00000049614
Gene: ENSMUSG00000045989

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 85 107 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079423
SMART Domains Protein: ENSMUSP00000078392
Gene: ENSMUSG00000058966

DomainStartEndE-ValueType
TLC 34 261 1.2e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098032
SMART Domains Protein: ENSMUSP00000095640
Gene: ENSMUSG00000058966

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
TLC 34 261 8.37e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205320
Predicted Effect probably benign
Transcript: ENSMUST00000205324
Predicted Effect probably benign
Transcript: ENSMUST00000205722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205907
Predicted Effect probably benign
Transcript: ENSMUST00000207020
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C T 14: 63,973,209 R190H probably benign Het
Akap13 T A 7: 75,611,285 I1219K probably damaging Het
Arfgef1 T C 1: 10,159,546 probably benign Het
Arhgap24 A G 5: 102,664,117 E70G probably benign Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Babam2 T C 5: 31,702,070 S40P possibly damaging Het
Brwd1 A G 16: 96,023,496 V1190A probably damaging Het
Ccpg1 A G 9: 73,012,627 E508G probably damaging Het
Ckm T C 7: 19,421,354 S372P probably benign Het
Egflam T A 15: 7,254,426 probably null Het
Farp1 G A 14: 121,255,479 V498M probably benign Het
Galnt14 T A 17: 73,504,904 I441F probably benign Het
Gm5414 A G 15: 101,624,672 L440P probably damaging Het
Gm6563 A G 19: 23,675,975 E43G possibly damaging Het
Gm9755 A T 8: 67,514,477 noncoding transcript Het
Gmds A G 13: 31,820,189 S337P possibly damaging Het
L3mbtl3 T A 10: 26,280,122 Q754L unknown Het
Ltk G A 2: 119,753,004 T300I possibly damaging Het
Olfr1176 A C 2: 88,340,277 K237N probably damaging Het
Pbx2 C A 17: 34,594,645 H184Q probably damaging Het
Plxna2 T C 1: 194,644,775 F339S probably damaging Het
Prkaa2 A T 4: 105,039,956 D353E probably benign Het
Prss36 G A 7: 127,932,838 probably benign Het
Rimbp2 A G 5: 128,774,260 V874A probably damaging Het
Rspo2 C A 15: 43,075,911 R161L probably benign Het
Ryr1 T C 7: 29,082,450 D2038G possibly damaging Het
Stkld1 A G 2: 26,943,134 M111V probably benign Het
Tprn A G 2: 25,264,482 I599V probably damaging Het
Upp2 A T 2: 58,780,094 I219F probably damaging Het
Vmn2r94 A T 17: 18,244,171 F619Y probably damaging Het
Xirp2 A G 2: 67,516,039 T2875A probably benign Het
Zfp64 A G 2: 168,926,378 L438P probably damaging Het
Other mutations in 4930451I11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02273:4930451I11Rik APN 7 126830759 missense probably benign 0.00
R2848:4930451I11Rik UTSW 7 126830722 missense possibly damaging 0.96
R6207:4930451I11Rik UTSW 7 126830893 missense probably damaging 1.00
R6954:4930451I11Rik UTSW 7 126830637 splice site probably null
R8087:4930451I11Rik UTSW 7 126830880 missense possibly damaging 0.81
Predicted Primers
Posted On2015-06-20