Incidental Mutation 'R6634:4921539E11Rik'
ID 525369
Institutional Source Beutler Lab
Gene Symbol 4921539E11Rik
Ensembl Gene ENSMUSG00000028520
Gene Name RIKEN cDNA 4921539E11 gene
Synonyms
MMRRC Submission 044756-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R6634 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 103087642-103148060 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 103094127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030245] [ENSMUST00000097944] [ENSMUST00000168664]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000030245
SMART Domains Protein: ENSMUSP00000030245
Gene: ENSMUSG00000028520

DomainStartEndE-ValueType
Pfam:DUF4545 1 443 6.1e-206 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000097944
SMART Domains Protein: ENSMUSP00000095557
Gene: ENSMUSG00000028520

DomainStartEndE-ValueType
Pfam:DUF4545 1 270 7.3e-116 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000168664
SMART Domains Protein: ENSMUSP00000131846
Gene: ENSMUSG00000028520

DomainStartEndE-ValueType
Pfam:DUF4545 1 342 4.4e-183 PFAM
Meta Mutation Damage Score 0.9378 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 97% (31/32)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b C A 11: 69,059,647 (GRCm39) Y566* probably null Het
Chl1 T A 6: 103,667,220 (GRCm39) S403R probably damaging Het
Cpa5 T A 6: 30,626,363 (GRCm39) D241E probably damaging Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Cyp2t4 C A 7: 26,855,213 (GRCm39) C121* probably null Het
Dkkl1 C A 7: 44,859,882 (GRCm39) R56L possibly damaging Het
Ebf3 A G 7: 136,802,889 (GRCm39) V387A probably damaging Het
Efcab3 T C 11: 104,784,609 (GRCm39) M2797T probably benign Het
Fer1l5 A G 1: 36,450,466 (GRCm39) T1212A probably damaging Het
Galnt16 T A 12: 80,565,944 (GRCm39) M1K probably null Het
Gm5800 A G 14: 51,953,595 (GRCm39) S7P possibly damaging Het
Gstp1 T A 19: 4,085,510 (GRCm39) H199L probably benign Het
Herc1 T C 9: 66,345,026 (GRCm39) S1940P probably benign Het
Igkv8-24 C T 6: 70,194,365 (GRCm39) W14* probably null Het
Iqcd C A 5: 120,738,556 (GRCm39) Q125K probably benign Het
Lpin2 T A 17: 71,553,413 (GRCm39) D812E probably damaging Het
Ltb4r2 T A 14: 55,999,962 (GRCm39) probably null Het
Morc2a T C 11: 3,622,376 (GRCm39) probably null Het
Myh1 A T 11: 67,099,890 (GRCm39) N600I possibly damaging Het
Nedd9 T A 13: 41,465,584 (GRCm39) K685N probably damaging Het
Or10aa3 A G 1: 173,878,535 (GRCm39) I199V probably benign Het
Otogl A C 10: 107,698,165 (GRCm39) V735G probably damaging Het
Pcnx1 T A 12: 81,964,656 (GRCm39) Y274* probably null Het
Pias1 A T 9: 62,826,706 (GRCm39) I252N probably damaging Het
Pitpnm3 T C 11: 71,942,755 (GRCm39) D844G probably null Het
Satb2 G T 1: 56,884,880 (GRCm39) S348* probably null Het
Sfxn1 T A 13: 54,247,048 (GRCm39) V180D probably damaging Het
Slc35g3 A T 11: 69,651,109 (GRCm39) V314D probably damaging Het
Tmem200c C A 17: 69,149,101 (GRCm39) D561E probably benign Het
Usp53 T A 3: 122,757,935 (GRCm39) Q69L probably benign Het
Other mutations in 4921539E11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:4921539E11Rik APN 4 103,092,983 (GRCm39) missense possibly damaging 0.95
IGL00864:4921539E11Rik APN 4 103,092,895 (GRCm39) missense probably damaging 1.00
IGL01951:4921539E11Rik APN 4 103,092,865 (GRCm39) missense probably damaging 1.00
IGL02477:4921539E11Rik APN 4 103,127,943 (GRCm39) missense probably benign 0.04
IGL02606:4921539E11Rik APN 4 103,099,978 (GRCm39) missense probably benign 0.01
IGL03210:4921539E11Rik APN 4 103,141,635 (GRCm39) missense probably benign 0.01
BB004:4921539E11Rik UTSW 4 103,123,539 (GRCm39) missense probably benign 0.02
BB014:4921539E11Rik UTSW 4 103,123,539 (GRCm39) missense probably benign 0.02
R0441:4921539E11Rik UTSW 4 103,092,689 (GRCm39) intron probably benign
R0455:4921539E11Rik UTSW 4 103,088,180 (GRCm39) missense possibly damaging 0.69
R0504:4921539E11Rik UTSW 4 103,128,057 (GRCm39) splice site probably benign
R0636:4921539E11Rik UTSW 4 103,088,414 (GRCm39) missense probably damaging 1.00
R0766:4921539E11Rik UTSW 4 103,127,994 (GRCm39) missense probably damaging 0.99
R0799:4921539E11Rik UTSW 4 103,100,101 (GRCm39) missense possibly damaging 0.83
R1312:4921539E11Rik UTSW 4 103,127,994 (GRCm39) missense probably damaging 0.99
R1713:4921539E11Rik UTSW 4 103,127,964 (GRCm39) missense possibly damaging 0.92
R1783:4921539E11Rik UTSW 4 103,088,286 (GRCm39) missense probably damaging 0.99
R1978:4921539E11Rik UTSW 4 103,127,961 (GRCm39) missense possibly damaging 0.49
R3735:4921539E11Rik UTSW 4 103,123,603 (GRCm39) missense probably damaging 1.00
R4821:4921539E11Rik UTSW 4 103,092,871 (GRCm39) missense probably damaging 1.00
R5274:4921539E11Rik UTSW 4 103,092,856 (GRCm39) missense probably benign 0.22
R5275:4921539E11Rik UTSW 4 103,092,856 (GRCm39) missense probably benign 0.22
R5431:4921539E11Rik UTSW 4 103,128,045 (GRCm39) missense probably benign 0.00
R5449:4921539E11Rik UTSW 4 103,123,579 (GRCm39) missense probably benign
R6049:4921539E11Rik UTSW 4 103,088,520 (GRCm39) missense probably benign 0.05
R6277:4921539E11Rik UTSW 4 103,088,668 (GRCm39) nonsense probably null
R6518:4921539E11Rik UTSW 4 103,123,608 (GRCm39) missense probably damaging 1.00
R6602:4921539E11Rik UTSW 4 103,112,769 (GRCm39) missense probably benign 0.36
R6992:4921539E11Rik UTSW 4 103,099,990 (GRCm39) missense possibly damaging 0.57
R7575:4921539E11Rik UTSW 4 103,088,192 (GRCm39) missense probably damaging 1.00
R7927:4921539E11Rik UTSW 4 103,123,539 (GRCm39) missense probably benign 0.02
R8130:4921539E11Rik UTSW 4 103,092,895 (GRCm39) missense probably damaging 1.00
R8461:4921539E11Rik UTSW 4 103,112,712 (GRCm39) missense probably benign 0.01
R8714:4921539E11Rik UTSW 4 103,100,093 (GRCm39) missense probably benign 0.10
R8798:4921539E11Rik UTSW 4 103,123,574 (GRCm39) start gained probably benign
R9458:4921539E11Rik UTSW 4 103,141,608 (GRCm39) missense possibly damaging 0.81
R9462:4921539E11Rik UTSW 4 103,092,964 (GRCm39) missense probably benign 0.08
R9598:4921539E11Rik UTSW 4 103,088,604 (GRCm39) missense probably benign 0.03
R9643:4921539E11Rik UTSW 4 103,092,666 (GRCm39) missense unknown
R9709:4921539E11Rik UTSW 4 103,092,678 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TAGGAAGCCCACTAGCTGAC -3'
(R):5'- GCCACTATGCCAGAAGTTTTC -3'

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