Incidental Mutation 'R1127:Rd3l'
ID96333
Institutional Source Beutler Lab
Gene Symbol Rd3l
Ensembl Gene ENSMUSG00000091402
Gene Nameretinal degeneration 3-like
Synonyms
MMRRC Submission 039200-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #R1127 (G1)
Quality Score225
Status Not validated
Chromosome12
Chromosomal Location111979111-111981317 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 111980283 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 20 (Y20H)
Ref Sequence ENSEMBL: ENSMUSP00000140410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079009] [ENSMUST00000170525] [ENSMUST00000185354] [ENSMUST00000189759] [ENSMUST00000190536]
Predicted Effect probably benign
Transcript: ENSMUST00000079009
SMART Domains Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
low complexity region 70 81 N/A INTRINSIC
DEXDc 132 327 5.64e-21 SMART
HELICc 404 502 3.22e-16 SMART
low complexity region 547 561 N/A INTRINSIC
HA2 565 666 1.9e-20 SMART
TUDOR 944 1003 1.52e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170525
AA Change: Y20H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000130014
Gene: ENSMUSG00000091402
AA Change: Y20H

DomainStartEndE-ValueType
Pfam:RD3 5 133 5.3e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185354
AA Change: Y20H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000140987
Gene: ENSMUSG00000091402
AA Change: Y20H

DomainStartEndE-ValueType
Pfam:RD3 4 100 2.9e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189759
AA Change: Y20H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000140454
Gene: ENSMUSG00000091402
AA Change: Y20H

DomainStartEndE-ValueType
Pfam:RD3 4 135 2.4e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190536
AA Change: Y20H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000140410
Gene: ENSMUSG00000091402
AA Change: Y20H

DomainStartEndE-ValueType
Pfam:RD3 4 135 2.4e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190680
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.1%
  • 20x: 80.6%
Validation Efficiency
MGI Phenotype Male homozygous mice are sterile, displaying small testis, arrest of male meiosis and abnormal spermatocyte morphology. Females are fertile.,NO_PHENOTYPE
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,135,203 D179G probably benign Het
Adh7 C T 3: 138,221,729 A12V probably benign Het
Ankhd1 T A 18: 36,634,346 N1179K probably damaging Het
Ankrd50 T C 3: 38,457,187 T344A probably benign Het
Aplf T C 6: 87,646,291 T269A probably benign Het
C87977 G A 4: 144,207,124 T471I probably damaging Het
Cavin4 T C 4: 48,663,637 S6P probably damaging Het
Ces2g T C 8: 104,967,462 probably null Het
Cyp2c66 A T 19: 39,163,368 N176Y probably damaging Het
Dnah3 T A 7: 119,923,030 D3980V probably damaging Het
Drc7 G T 8: 95,072,788 E530D probably damaging Het
Dst A G 1: 34,275,277 T6434A probably damaging Het
Dtx3l A G 16: 35,938,757 S41P possibly damaging Het
Eef1b2 G A 1: 63,179,457 probably null Het
Eml3 C T 19: 8,936,308 T43I probably damaging Het
Fam110b T A 4: 5,799,434 L284Q probably damaging Het
Gm5538 G A 3: 59,751,893 E256K probably benign Het
Gpr33 A C 12: 52,023,469 H262Q probably damaging Het
Igfals T G 17: 24,880,481 L182R probably damaging Het
Lamc1 A G 1: 153,250,459 F496L possibly damaging Het
Mgea5 G A 19: 45,752,155 R914* probably null Het
Muc4 T A 16: 32,750,525 H134Q possibly damaging Het
Nckap1 C T 2: 80,517,942 S889N probably benign Het
Nxn A T 11: 76,274,069 C205* probably null Het
Olfr323 T C 11: 58,625,458 E196G probably damaging Het
Olfr651 C A 7: 104,553,086 H56N possibly damaging Het
Pamr1 A T 2: 102,639,353 I415F possibly damaging Het
Ppp4r4 G A 12: 103,579,068 G200E probably damaging Het
Prdm16 C A 4: 154,528,799 S57I probably damaging Het
Psmd11 A G 11: 80,471,584 K157R possibly damaging Het
Ptprn2 G A 12: 117,212,008 probably null Het
Pus7 G A 5: 23,768,795 H234Y probably benign Het
Stk31 A G 6: 49,409,207 D160G probably damaging Het
Sycp2 C T 2: 178,374,366 E768K possibly damaging Het
Tango6 T C 8: 106,688,895 V116A probably benign Het
Ttn C T 2: 76,867,230 probably benign Het
Vmn2r114 ATTT ATT 17: 23,290,932 probably null Het
Xylb T C 9: 119,383,377 I427T probably damaging Het
Zc3h7a T G 16: 11,139,075 D890A probably damaging Het
Other mutations in Rd3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02186:Rd3l APN 12 111979467 missense probably benign 0.04
IGL02928:Rd3l APN 12 111979578 missense probably benign 0.01
R0675:Rd3l UTSW 12 111980162 missense probably benign 0.34
R0907:Rd3l UTSW 12 111980140 nonsense probably null
R4066:Rd3l UTSW 12 111979511 missense probably benign 0.35
R4067:Rd3l UTSW 12 111979511 missense probably benign 0.35
R4439:Rd3l UTSW 12 111979658 missense possibly damaging 0.95
R4959:Rd3l UTSW 12 111980144 unclassified probably null
R7465:Rd3l UTSW 12 111979482 missense probably damaging 1.00
R8030:Rd3l UTSW 12 111980150 missense possibly damaging 0.48
Predicted Primers PCR Primer
(F):5'- AGAACGGTTCCAGCTTGACAAGG -3'
(R):5'- ACTTGGGCAAACTCTGGCAACAC -3'

Sequencing Primer
(F):5'- GTACTTGTGAGCACAGAACTTCC -3'
(R):5'- CTGTGGACAGCACTTTTCAAG -3'
Posted On2014-01-05