Incidental Mutation 'R4257:4930451I11Rik'
ID 321862
Institutional Source Beutler Lab
Gene Symbol 4930451I11Rik
Ensembl Gene ENSMUSG00000045989
Gene Name RIKEN cDNA 4930451I11 gene
Synonyms
MMRRC Submission 041070-MU
Accession Numbers
Essential gene? Not available question?
Stock # R4257 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 126429640-126430712 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 126430662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061695] [ENSMUST00000079423] [ENSMUST00000098032] [ENSMUST00000205324] [ENSMUST00000205722] [ENSMUST00000207020]
AlphaFold E9Q9R3
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 probably benign
Transcript: ENSMUST00000207020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205907
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: 64,210,658 (GRCm39) R190H probably benign Het
Akap13 T A 7: 75,261,033 (GRCm39) I1219K probably damaging Het
Arfgef1 T C 1: 10,229,771 (GRCm39) probably benign Het
Arhgap24 A G 5: 102,811,983 (GRCm39) E70G probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Babam2 T C 5: 31,859,414 (GRCm39) S40P possibly damaging Het
Brwd1 A G 16: 95,824,696 (GRCm39) V1190A probably damaging Het
Ccpg1 A G 9: 72,919,909 (GRCm39) E508G probably damaging Het
Ckm T C 7: 19,155,279 (GRCm39) S372P probably benign Het
Egflam T A 15: 7,283,907 (GRCm39) probably null Het
Farp1 G A 14: 121,492,891 (GRCm39) V498M probably benign Het
Galnt14 T A 17: 73,811,899 (GRCm39) I441F probably benign Het
Gm5414 A G 15: 101,533,107 (GRCm39) L440P probably damaging Het
Gm6563 A G 19: 23,653,339 (GRCm39) E43G possibly damaging Het
Gm9755 A T 8: 67,967,129 (GRCm39) noncoding transcript Het
Gmds A G 13: 32,004,172 (GRCm39) S337P possibly damaging Het
L3mbtl3 T A 10: 26,156,020 (GRCm39) Q754L unknown Het
Ltk G A 2: 119,583,485 (GRCm39) T300I possibly damaging Het
Or5d46 A C 2: 88,170,621 (GRCm39) K237N probably damaging Het
Pbx2 C A 17: 34,813,619 (GRCm39) H184Q probably damaging Het
Plxna2 T C 1: 194,327,083 (GRCm39) F339S probably damaging Het
Prkaa2 A T 4: 104,897,153 (GRCm39) D353E probably benign Het
Prss36 G A 7: 127,532,010 (GRCm39) probably benign Het
Rimbp2 A G 5: 128,851,324 (GRCm39) V874A probably damaging Het
Rspo2 C A 15: 42,939,307 (GRCm39) R161L probably benign Het
Ryr1 T C 7: 28,781,875 (GRCm39) D2038G possibly damaging Het
Stkld1 A G 2: 26,833,146 (GRCm39) M111V probably benign Het
Tprn A G 2: 25,154,494 (GRCm39) I599V probably damaging Het
Upp2 A T 2: 58,670,106 (GRCm39) I219F probably damaging Het
Vmn2r94 A T 17: 18,464,433 (GRCm39) F619Y probably damaging Het
Xirp2 A G 2: 67,346,383 (GRCm39) T2875A probably benign Het
Zfp64 A G 2: 168,768,298 (GRCm39) L438P probably damaging Het
Other mutations in 4930451I11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02273:4930451I11Rik APN 7 126,429,931 (GRCm39) missense probably benign 0.00
R2848:4930451I11Rik UTSW 7 126,429,894 (GRCm39) missense possibly damaging 0.96
R6207:4930451I11Rik UTSW 7 126,430,065 (GRCm39) missense probably damaging 1.00
R6954:4930451I11Rik UTSW 7 126,429,809 (GRCm39) splice site probably null
R8087:4930451I11Rik UTSW 7 126,430,052 (GRCm39) missense possibly damaging 0.81
Predicted Primers
Posted On 2015-06-20