Incidental Mutation 'R8370:4921530L21Rik'
ID 646355
Institutional Source Beutler Lab
Gene Symbol 4921530L21Rik
Ensembl Gene ENSMUSG00000034689
Gene Name RIKEN cDNA 4921530L21 gene
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R8370 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 95881254-95882780 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95882494 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 229 (L229P)
Ref Sequence ENSEMBL: ENSMUSP00000044028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045892] [ENSMUST00000228913]
AlphaFold Q9CQ47
Predicted Effect probably damaging
Transcript: ENSMUST00000045892
AA Change: L229P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044028
Gene: ENSMUSG00000034689
AA Change: L229P

DomainStartEndE-ValueType
coiled coil region 36 62 N/A INTRINSIC
coiled coil region 127 175 N/A INTRINSIC
coiled coil region 200 245 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000228913
AA Change: L229P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik T C 13: 59,743,952 D18G probably benign Het
Adamts5 A G 16: 85,899,993 V92A possibly damaging Het
Armc2 T A 10: 41,923,837 N675I possibly damaging Het
Cav1 A G 6: 17,339,294 H126R possibly damaging Het
Clca4b A G 3: 144,926,063 F227S probably damaging Het
Clec4a4 G A 6: 122,991,799 G41D probably damaging Het
Commd1 A T 11: 22,982,104 L51Q probably damaging Het
Dhx57 A T 17: 80,245,763 V1245D probably damaging Het
Ephb2 A G 4: 136,655,991 I925T possibly damaging Het
Eprs T A 1: 185,399,257 I700K probably damaging Het
Fry C A 5: 150,395,819 T983K probably damaging Het
Gm14325 T C 2: 177,832,592 I232M probably benign Het
Golgb1 A G 16: 36,912,317 H683R probably benign Het
Kcnq5 G A 1: 21,479,424 R360C probably damaging Het
Kif9 C T 9: 110,488,613 R113C probably damaging Het
Klhl33 C T 14: 50,892,232 R312Q probably damaging Het
Lama5 T C 2: 180,201,487 E489G possibly damaging Het
Lhb A G 7: 45,421,642 D97G probably damaging Het
Lrp1b T C 2: 40,998,105 D2381G Het
Miga2 AAGAG AAG 2: 30,375,743 probably null Het
Mmp17 A G 5: 129,605,578 D427G probably damaging Het
Mrps18b T C 17: 35,912,362 I131V probably benign Het
Nav1 T A 1: 135,471,144 K567* probably null Het
Ncam1 T A 9: 49,557,131 R343* probably null Het
Nfrkb T A 9: 31,405,579 N591K probably damaging Het
Numb A T 12: 83,808,200 C117* probably null Het
Olfr1487 T A 19: 13,619,297 I2N probably damaging Het
Olfr522 A T 7: 140,162,768 Y61N probably damaging Het
Pfpl A T 19: 12,429,911 N509Y probably damaging Het
Prss58 C A 6: 40,895,424 G222C probably damaging Het
Ptx4 C A 17: 25,123,340 P263Q possibly damaging Het
Ribc2 T G 15: 85,143,288 H323Q probably benign Het
Rsf1 CGGCGGC CGGCGGCGGGGGCGGC 7: 97,579,929 probably benign Het
Smchd1 G A 17: 71,394,913 T1028M probably benign Het
Srebf1 T C 11: 60,202,196 I806V probably benign Het
Trim14 A T 4: 46,523,711 L109Q probably damaging Het
Wdfy4 A T 14: 33,093,251 H1602Q Het
Zbtb48 A G 4: 152,021,287 probably null Het
Zranb3 T C 1: 127,967,933 E726G probably benign Het
Other mutations in 4921530L21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0356:4921530L21Rik UTSW 14 95882365 missense possibly damaging 0.92
R0633:4921530L21Rik UTSW 14 95881943 missense probably damaging 1.00
R1396:4921530L21Rik UTSW 14 95882551 missense probably benign 0.01
R5561:4921530L21Rik UTSW 14 95882371 missense probably benign 0.26
R6956:4921530L21Rik UTSW 14 95882433 missense probably damaging 1.00
R7431:4921530L21Rik UTSW 14 95881837 missense probably benign 0.15
R7436:4921530L21Rik UTSW 14 95882591 missense probably benign
R7689:4921530L21Rik UTSW 14 95881816 missense probably benign
R7720:4921530L21Rik UTSW 14 95882112 missense probably benign 0.04
R7724:4921530L21Rik UTSW 14 95882250 missense possibly damaging 0.95
R7821:4921530L21Rik UTSW 14 95882050 missense possibly damaging 0.91
Z1177:4921530L21Rik UTSW 14 95882130 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AATCCCTGTGTGAGGAGACC -3'
(R):5'- CTTCTGAGGCTTCTGACAATAAGG -3'

Sequencing Primer
(F):5'- CTGTGTGAGGAGACCAAGGCTC -3'
(R):5'- GGCTTCTGACAATAAGGTTACACG -3'
Posted On 2020-09-02