Incidental Mutation 'R3931:A730049H05Rik'
ID 308466
Institutional Source Beutler Lab
Gene Symbol A730049H05Rik
Ensembl Gene ENSMUSG00000048636
Gene Name RIKEN cDNA A730049H05 gene
Synonyms
MMRRC Submission 040918-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3931 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 92793424-92820449 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to C at 92811420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057977] [ENSMUST00000113438] [ENSMUST00000167391]
AlphaFold Q8C940
Predicted Effect unknown
Transcript: ENSMUST00000057977
AA Change: R124S
SMART Domains Protein: ENSMUSP00000051623
Gene: ENSMUSG00000048636
AA Change: R124S

DomainStartEndE-ValueType
low complexity region 72 87 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113438
SMART Domains Protein: ENSMUSP00000109065
Gene: ENSMUSG00000030022

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Pep_M12B_propep 49 207 1.8e-37 PFAM
low complexity region 234 247 N/A INTRINSIC
Pfam:Reprolysin_5 291 476 7.6e-17 PFAM
Pfam:Reprolysin_4 291 495 2e-11 PFAM
Pfam:Reprolysin 293 499 7.4e-29 PFAM
Pfam:Reprolysin_2 310 489 1e-13 PFAM
Pfam:Reprolysin_3 314 445 1.7e-14 PFAM
TSP1 591 643 2.15e-9 SMART
Pfam:ADAM_spacer1 753 871 7.3e-35 PFAM
TSP1 881 936 1.14e0 SMART
Blast:TSP1 938 993 2e-28 BLAST
TSP1 1000 1054 3.78e-5 SMART
TSP1 1055 1109 5.64e-4 SMART
TSP1 1110 1166 1.25e-5 SMART
TSP1 1186 1240 1.45e-6 SMART
TSP1 1242 1296 4.41e-6 SMART
TSP1 1328 1380 7.06e-5 SMART
TSP1 1381 1436 4.24e-8 SMART
TSP1 1440 1495 8.23e-6 SMART
TSP1 1496 1551 1.23e-4 SMART
TSP1 1552 1609 2e-4 SMART
TSP1 1611 1672 1.25e-5 SMART
TSP1 1676 1730 3.47e-4 SMART
Pfam:GON 1732 1930 1.6e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133858
Predicted Effect probably benign
Transcript: ENSMUST00000167391
SMART Domains Protein: ENSMUSP00000126498
Gene: ENSMUSG00000030022

DomainStartEndE-ValueType
TSP1 10 62 2.15e-9 SMART
Pfam:ADAM_spacer1 172 290 6.1e-35 PFAM
TSP1 300 355 1.14e0 SMART
Blast:TSP1 357 412 3e-28 BLAST
TSP1 419 473 3.78e-5 SMART
TSP1 474 528 5.64e-4 SMART
TSP1 529 585 1.25e-5 SMART
TSP1 605 659 1.45e-6 SMART
TSP1 661 715 4.41e-6 SMART
TSP1 747 799 7.06e-5 SMART
TSP1 800 855 4.24e-8 SMART
TSP1 859 914 8.23e-6 SMART
TSP1 915 970 1.23e-4 SMART
TSP1 971 1028 2e-4 SMART
TSP1 1030 1091 1.25e-5 SMART
TSP1 1095 1149 3.47e-4 SMART
Pfam:GON 1150 1350 2.1e-86 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 100% (30/30)
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cbarp A G 10: 79,971,348 (GRCm39) L159P probably damaging Het
Ccnd2 A G 6: 127,107,422 (GRCm39) I249T probably damaging Het
Cerk G T 15: 86,039,311 (GRCm39) C193* probably null Het
Chrna2 A G 14: 66,387,216 (GRCm39) E454G probably benign Het
Clnk T C 5: 38,925,412 (GRCm39) T130A probably benign Het
Dcbld2 T C 16: 58,285,701 (GRCm39) L620P probably damaging Het
Dhx29 T A 13: 113,095,499 (GRCm39) V942E probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnai1 G A 4: 41,604,229 (GRCm39) C212Y probably damaging Het
Dpep1 A G 8: 123,925,518 (GRCm39) D57G possibly damaging Het
Gfm2 G A 13: 97,311,532 (GRCm39) V701I probably benign Het
Grm1 C T 10: 10,595,622 (GRCm39) A669T probably benign Het
Hsd3b3 C T 3: 98,649,492 (GRCm39) G277D probably damaging Het
Hsf5 A G 11: 87,522,508 (GRCm39) Y367C probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lipo4 C T 19: 33,480,619 (GRCm39) V250I probably benign Het
Lrrc14 T C 15: 76,597,765 (GRCm39) V165A probably benign Het
Map3k9 A G 12: 81,819,691 (GRCm39) F188L probably damaging Het
Mpo A G 11: 87,691,866 (GRCm39) Y433C probably damaging Het
Nsd2 A G 5: 34,003,461 (GRCm39) K185E probably benign Het
Or6n2 T A 1: 173,897,147 (GRCm39) F94L probably damaging Het
Oxct1 T A 15: 4,066,601 (GRCm39) N72K possibly damaging Het
Ptpn12 A G 5: 21,206,321 (GRCm39) I324T probably benign Het
Sez6 T C 11: 77,867,708 (GRCm39) I875T probably damaging Het
Tpr T A 1: 150,311,655 (GRCm39) V1811E probably damaging Het
Trpc4 A G 3: 54,225,516 (GRCm39) D871G probably damaging Het
Upf2 A G 2: 6,051,821 (GRCm39) E1161G unknown Het
Zp2 T C 7: 119,731,580 (GRCm39) probably benign Het
Other mutations in A730049H05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01889:A730049H05Rik APN 6 92,804,981 (GRCm39) intron probably benign
IGL02037:A730049H05Rik APN 6 92,804,997 (GRCm39) intron probably benign
IGL02047:A730049H05Rik APN 6 92,808,909 (GRCm39) intron probably benign
R1083:A730049H05Rik UTSW 6 92,805,046 (GRCm39) intron probably benign
R6992:A730049H05Rik UTSW 6 92,804,975 (GRCm39) intron probably benign
R7653:A730049H05Rik UTSW 6 92,805,050 (GRCm39) missense unknown
R7886:A730049H05Rik UTSW 6 92,811,437 (GRCm39) missense unknown
R8801:A730049H05Rik UTSW 6 92,808,972 (GRCm39) missense unknown
R9033:A730049H05Rik UTSW 6 92,808,934 (GRCm39) missense unknown
R9217:A730049H05Rik UTSW 6 92,808,967 (GRCm39) missense unknown
X0065:A730049H05Rik UTSW 6 92,808,916 (GRCm39) critical splice acceptor site probably null
Z1176:A730049H05Rik UTSW 6 92,805,047 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCTTCTGCCCACATTTCAGTTAA -3'
(R):5'- TCATTTGAACAAAGATAAGGGGACA -3'

Sequencing Primer
(F):5'- CACAGAATTAATGGTGTGAC -3'
(R):5'- CACAGAGGGTTCCTGAGAAATTCTTG -3'
Posted On 2015-04-17