Incidental Mutation 'IGL01724:2200002D01Rik'
ID 105226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2200002D01Rik
Ensembl Gene ENSMUSG00000030587
Gene Name RIKEN cDNA 2200002D01 gene
Synonyms H2RSP, HAI-2 related small protein
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # IGL01724
Quality Score
Status
Chromosome 7
Chromosomal Location 28946946-28947892 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 28947321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032808] [ENSMUST00000032809] [ENSMUST00000108237] [ENSMUST00000108238] [ENSMUST00000138128] [ENSMUST00000142519]
AlphaFold Q9D809
Predicted Effect probably null
Transcript: ENSMUST00000032808
SMART Domains Protein: ENSMUSP00000032808
Gene: ENSMUSG00000030587

DomainStartEndE-ValueType
Pfam:IMUP 1 114 1.8e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000032809
SMART Domains Protein: ENSMUSP00000032809
Gene: ENSMUSG00000030588

DomainStartEndE-ValueType
low complexity region 45 65 N/A INTRINSIC
Pfam:YIF1 72 304 5.7e-86 PFAM
Pfam:Yip1 110 282 7.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108237
SMART Domains Protein: ENSMUSP00000103872
Gene: ENSMUSG00000030588

DomainStartEndE-ValueType
low complexity region 37 57 N/A INTRINSIC
Pfam:YIF1 64 176 3.9e-48 PFAM
Pfam:YIF1 169 244 2.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108238
SMART Domains Protein: ENSMUSP00000103873
Gene: ENSMUSG00000030588

DomainStartEndE-ValueType
low complexity region 42 62 N/A INTRINSIC
Pfam:YIF1 66 303 5.4e-107 PFAM
Pfam:Yip1 107 279 7.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138128
SMART Domains Protein: ENSMUSP00000117224
Gene: ENSMUSG00000030588

DomainStartEndE-ValueType
low complexity region 42 62 N/A INTRINSIC
low complexity region 100 110 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151339
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,610,259 (GRCm39) V635A probably benign Het
Adgre1 T A 17: 57,751,064 (GRCm39) Y579* probably null Het
Adgrg3 T C 8: 95,766,053 (GRCm39) F295L probably benign Het
Arhgap42 A T 9: 8,998,254 (GRCm39) probably benign Het
Brd2 T A 17: 34,335,976 (GRCm39) Q79L probably damaging Het
Brd2 C A 17: 34,335,975 (GRCm39) Q79H probably damaging Het
Capn15 A G 17: 26,181,037 (GRCm39) S705P probably damaging Het
Cebpz T A 17: 79,243,342 (GRCm39) D104V probably benign Het
Chl1 T C 6: 103,626,534 (GRCm39) I94T probably damaging Het
Csf2rb C T 15: 78,220,614 (GRCm39) A52V probably damaging Het
Ddx27 T C 2: 166,870,309 (GRCm39) L459P probably damaging Het
Dhtkd1 T C 2: 5,919,651 (GRCm39) T577A probably benign Het
Dync2h1 G A 9: 7,081,077 (GRCm39) T2873I probably benign Het
Emg1 A G 6: 124,688,984 (GRCm39) F8S possibly damaging Het
Fermt3 A G 19: 6,979,143 (GRCm39) I553T probably damaging Het
Gaa A G 11: 119,165,947 (GRCm39) D419G possibly damaging Het
Hdac10 T C 15: 89,008,912 (GRCm39) probably benign Het
Hsf1 T A 15: 76,381,037 (GRCm39) V122E possibly damaging Het
Lig3 C A 11: 82,681,448 (GRCm39) T480K possibly damaging Het
Magi1 T C 6: 93,769,381 (GRCm39) probably null Het
Mcm2 G T 6: 88,863,044 (GRCm39) H683N probably damaging Het
Ncapg2 G T 12: 116,390,331 (GRCm39) A427S probably damaging Het
Nkd1 T C 8: 89,248,923 (GRCm39) F23L probably damaging Het
Or9i2 G A 19: 13,816,225 (GRCm39) T104M probably damaging Het
Pcdhb5 T G 18: 37,454,075 (GRCm39) S152A probably benign Het
Pdx1 A T 5: 147,211,217 (GRCm39) E146V probably damaging Het
Qrsl1 T C 10: 43,750,604 (GRCm39) T485A probably benign Het
Slc17a4 A G 13: 24,089,516 (GRCm39) Y134H probably benign Het
Slc24a4 A T 12: 102,185,219 (GRCm39) M110L possibly damaging Het
Tent5a A G 9: 85,207,103 (GRCm39) C232R probably damaging Het
Tnni3k T A 3: 154,645,263 (GRCm39) I541F possibly damaging Het
Uhrf2 T C 19: 30,052,652 (GRCm39) V382A probably benign Het
Vac14 T A 8: 111,345,523 (GRCm39) M1K probably null Het
Virma A G 4: 11,528,672 (GRCm39) E1303G probably damaging Het
Xirp2 T C 2: 67,356,411 (GRCm39) V3724A probably benign Het
Other mutations in 2200002D01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02532:2200002D01Rik APN 7 28,947,645 (GRCm39) missense possibly damaging 0.95
R4362:2200002D01Rik UTSW 7 28,947,687 (GRCm39) unclassified probably benign
R8986:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9364:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9365:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9367:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9368:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9369:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9371:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9372:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9373:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9381:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9448:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9449:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9450:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9495:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9498:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9513:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9514:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9515:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9551:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
R9552:2200002D01Rik UTSW 7 28,947,048 (GRCm39) unclassified probably benign
Z1186:2200002D01Rik UTSW 7 28,947,029 (GRCm39) unclassified probably benign
Posted On 2014-01-21