Incidental Mutation 'R4482:4921536K21Rik'
ID 331467
Institutional Source Beutler Lab
Gene Symbol 4921536K21Rik
Ensembl Gene ENSMUSG00000020434
Gene Name RIKEN cDNA 4921536K21 gene
Synonyms
MMRRC Submission 041738-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4482 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 3836088-3845098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3845008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 27 (V27A)
Ref Sequence ENSEMBL: ENSMUSP00000020712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020712] [ENSMUST00000055931] [ENSMUST00000109996]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000020712
AA Change: V27A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000055931
SMART Domains Protein: ENSMUSP00000057346
Gene: ENSMUSG00000047205

DomainStartEndE-ValueType
DSPc 19 157 2.75e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109996
SMART Domains Protein: ENSMUSP00000105624
Gene: ENSMUSG00000047205

DomainStartEndE-ValueType
DSPc 19 157 2.75e-42 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 A T 19: 4,913,436 (GRCm39) probably null Het
Adamts20 T C 15: 94,243,801 (GRCm39) Y642C probably damaging Het
Ankrd11 T C 8: 123,620,228 (GRCm39) D1187G probably damaging Het
Bag4 T C 8: 26,275,072 (GRCm39) probably benign Het
Bsn C A 9: 107,991,863 (GRCm39) K1296N probably damaging Het
Cct5 T C 15: 31,597,715 (GRCm39) D58G probably damaging Het
Cyp4a10 T C 4: 115,389,795 (GRCm39) F467L probably damaging Het
Dicer1 A G 12: 104,672,536 (GRCm39) Y904H probably damaging Het
Fbn1 A T 2: 125,205,530 (GRCm39) probably null Het
Fhip1b A T 7: 105,038,881 (GRCm39) F119L probably benign Het
Git1 T A 11: 77,391,333 (GRCm39) Y189N possibly damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Itga6 T A 2: 71,686,259 (GRCm39) I1059N probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kbtbd3 A T 9: 4,331,051 (GRCm39) Y475F probably damaging Het
Map3k6 T C 4: 132,970,710 (GRCm39) I199T probably benign Het
Mtmr7 T C 8: 41,007,425 (GRCm39) M503V probably benign Het
Muc4 A G 16: 32,577,075 (GRCm39) T2192A unknown Het
Nexn T C 3: 151,948,390 (GRCm39) E391G probably damaging Het
Or5h22 G T 16: 58,895,286 (GRCm39) H52Q probably benign Het
Parg A G 14: 31,984,731 (GRCm39) I254V probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pomt2 G A 12: 87,178,604 (GRCm39) P290S probably benign Het
Rasl10a T A 11: 5,008,429 (GRCm39) Y42N probably damaging Het
Slc4a8 C A 15: 100,708,480 (GRCm39) F871L probably damaging Het
Tdrd9 T C 12: 111,980,935 (GRCm39) probably null Het
Trim21 G A 7: 102,213,140 (GRCm39) Q53* probably null Het
Triobp T C 15: 78,850,763 (GRCm39) S306P possibly damaging Het
Vasn A T 16: 4,466,190 (GRCm39) T46S possibly damaging Het
Wmp T A X: 106,990,237 (GRCm39) L225F possibly damaging Het
Zfp236 A T 18: 82,662,346 (GRCm39) F529Y probably benign Het
Other mutations in 4921536K21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0348:4921536K21Rik UTSW 11 3,844,987 (GRCm39) missense probably benign 0.19
R1869:4921536K21Rik UTSW 11 3,840,067 (GRCm39) missense probably damaging 0.99
R2297:4921536K21Rik UTSW 11 3,840,127 (GRCm39) missense probably damaging 0.99
R4347:4921536K21Rik UTSW 11 3,840,122 (GRCm39) missense probably damaging 0.99
R4595:4921536K21Rik UTSW 11 3,840,052 (GRCm39) missense probably benign 0.09
R6989:4921536K21Rik UTSW 11 3,840,076 (GRCm39) missense probably damaging 0.99
R7772:4921536K21Rik UTSW 11 3,839,784 (GRCm39) splice site probably null
R8274:4921536K21Rik UTSW 11 3,844,964 (GRCm39) missense possibly damaging 0.94
R8921:4921536K21Rik UTSW 11 3,844,933 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- GTGAGTCGGATTCCCTTACG -3'
(R):5'- ACGCCTAAAGACTGTCACGC -3'

Sequencing Primer
(F):5'- AACTGCTTTGTATACCCGAGC -3'
(R):5'- CTGTCACGCGGTCTGCTTG -3'
Posted On 2015-07-21