Incidental Mutation 'R6604:4930447A16Rik'
ID 525559
Institutional Source Beutler Lab
Gene Symbol 4930447A16Rik
Ensembl Gene ENSMUSG00000022288
Gene Name RIKEN cDNA 4930447A16 gene
Synonyms
MMRRC Submission 044727-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6604 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 37425835-37440897 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 37439823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022897] [ENSMUST00000090150] [ENSMUST00000116445] [ENSMUST00000119730] [ENSMUST00000120746] [ENSMUST00000148652] [ENSMUST00000150453] [ENSMUST00000153775] [ENSMUST00000168992]
AlphaFold Q9D5F6
Predicted Effect unknown
Transcript: ENSMUST00000022897
AA Change: E107G
Predicted Effect probably benign
Transcript: ENSMUST00000090150
SMART Domains Protein: ENSMUSP00000087611
Gene: ENSMUSG00000051359

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 176 1.95e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116445
SMART Domains Protein: ENSMUSP00000112146
Gene: ENSMUSG00000051359

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 176 1.95e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119730
SMART Domains Protein: ENSMUSP00000113858
Gene: ENSMUSG00000051359

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 176 1.95e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120746
SMART Domains Protein: ENSMUSP00000112898
Gene: ENSMUSG00000051359

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 176 1.95e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132423
Predicted Effect probably benign
Transcript: ENSMUST00000148652
SMART Domains Protein: ENSMUSP00000121460
Gene: ENSMUSG00000051359

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
Pfam:EF-hand_5 149 163 1.2e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150453
SMART Domains Protein: ENSMUSP00000119726
Gene: ENSMUSG00000051359

DomainStartEndE-ValueType
Pfam:EF-hand_7 3 88 3.9e-8 PFAM
Pfam:EF-hand_8 39 88 8.2e-8 PFAM
Pfam:EF-hand_1 64 88 5e-8 PFAM
Pfam:EF-hand_6 64 88 1.6e-6 PFAM
Pfam:EF-hand_5 65 86 2.5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153775
SMART Domains Protein: ENSMUSP00000114576
Gene: ENSMUSG00000051359

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 174 1.4e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168992
SMART Domains Protein: ENSMUSP00000130126
Gene: ENSMUSG00000051359

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 176 1.95e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145909
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,328,384 (GRCm39) F3486V probably damaging Het
Adcy9 A G 16: 4,122,271 (GRCm39) L830P probably damaging Het
Aurkb T A 11: 68,939,388 (GRCm39) L157* probably null Het
Bbs10 T G 10: 111,136,965 (GRCm39) L693V possibly damaging Het
Dna2 G T 10: 62,803,522 (GRCm39) probably null Het
Efcab3 T A 11: 104,589,772 (GRCm39) L123* probably null Het
Ext1 A G 15: 52,946,555 (GRCm39) F550L probably damaging Het
Gm5129 A G 5: 29,940,765 (GRCm39) probably benign Het
Golm1 A G 13: 59,786,197 (GRCm39) Y332H probably damaging Het
Gpbp1l1 C T 4: 116,430,702 (GRCm39) P58S probably benign Het
Grk4 A T 5: 34,877,208 (GRCm39) D301V probably damaging Het
Haus1 T C 18: 77,851,797 (GRCm39) E106G probably damaging Het
Hpd T C 5: 123,318,964 (GRCm39) probably null Het
Kcnj6 C A 16: 94,563,504 (GRCm39) E313D probably damaging Het
Lmna A G 3: 88,395,589 (GRCm39) V57A probably damaging Het
Lrrtm1 T C 6: 77,221,221 (GRCm39) F226S possibly damaging Het
Otogl T C 10: 107,657,895 (GRCm39) probably null Het
Pgr A C 9: 8,946,867 (GRCm39) T703P possibly damaging Het
Ppig T C 2: 69,571,925 (GRCm39) S215P unknown Het
Pramel28 T C 4: 143,692,567 (GRCm39) R145G probably benign Het
Rasgrp3 A C 17: 75,810,110 (GRCm39) N270T probably benign Het
Rp1 C A 1: 4,089,351 (GRCm39) K1305N unknown Het
Shc1 A G 3: 89,329,186 (GRCm39) Y10C probably damaging Het
Slc12a1 G T 2: 125,026,735 (GRCm39) D457Y probably damaging Het
Sncaip A G 18: 53,038,918 (GRCm39) Q544R possibly damaging Het
Socs5 T C 17: 87,442,553 (GRCm39) Y498H probably damaging Het
Szt2 T C 4: 118,242,671 (GRCm39) D1472G probably benign Het
Tmem163 A G 1: 127,419,347 (GRCm39) M286T possibly damaging Het
Tmem236 A G 2: 14,179,512 (GRCm39) T38A probably benign Het
Vmn2r29 A T 7: 7,234,858 (GRCm39) V676E probably damaging Het
Vps13d A G 4: 144,907,694 (GRCm39) V56A probably damaging Het
Xirp2 T C 2: 67,340,189 (GRCm39) I810T possibly damaging Het
Zfp958 T C 8: 4,678,245 (GRCm39) L90P probably damaging Het
Other mutations in 4930447A16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02163:4930447A16Rik APN 15 37,439,852 (GRCm39) intron probably benign
IGL02639:4930447A16Rik APN 15 37,430,048 (GRCm39) nonsense probably null
R0569:4930447A16Rik UTSW 15 37,425,863 (GRCm39) start codon destroyed probably null
R1596:4930447A16Rik UTSW 15 37,426,018 (GRCm39) intron probably benign
R1728:4930447A16Rik UTSW 15 37,439,844 (GRCm39) intron probably benign
R1729:4930447A16Rik UTSW 15 37,439,844 (GRCm39) intron probably benign
R1967:4930447A16Rik UTSW 15 37,439,842 (GRCm39) intron probably benign
R2018:4930447A16Rik UTSW 15 37,440,742 (GRCm39) intron probably benign
R4811:4930447A16Rik UTSW 15 37,425,952 (GRCm39) intron probably benign
R5760:4930447A16Rik UTSW 15 37,439,835 (GRCm39) intron probably benign
R6572:4930447A16Rik UTSW 15 37,425,961 (GRCm39) nonsense probably null
R8544:4930447A16Rik UTSW 15 37,425,979 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TGCACTGTGCCTCAAGTTAAG -3'
(R):5'- AAGCTCGGATCATTGCTTCTGC -3'

Sequencing Primer
(F):5'- ACTGTGCCTCAAGTTAAGATAATATG -3'
(R):5'- GATCTCTGTGAGTTCAAGACCAGTC -3'
Posted On 2018-06-22