Incidental Mutation 'IGL02953:Srpx'
ID365000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srpx
Ensembl Gene ENSMUSG00000090084
Gene Namesushi-repeat-containing protein
Synonymsdrs-2, drs-1
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02953
Quality Score
Status
ChromosomeX
Chromosomal Location10037977-10117709 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to T at 10117467 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000072229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044789] [ENSMUST00000072393] [ENSMUST00000115543] [ENSMUST00000115544]
Predicted Effect unknown
Transcript: ENSMUST00000044789
AA Change: V25D
SMART Domains Protein: ENSMUSP00000047926
Gene: ENSMUSG00000090084
AA Change: V25D

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
CCP 57 115 1.69e-8 SMART
CCP 120 174 2.44e-14 SMART
Pfam:HYR 175 257 1.5e-30 PFAM
CCP 262 317 1.24e-15 SMART
Pfam:DUF4174 332 451 4.3e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072393
SMART Domains Protein: ENSMUSP00000072229
Gene: ENSMUSG00000031174

DomainStartEndE-ValueType
Pfam:RCC1_2 76 104 3e-8 PFAM
Pfam:RCC1 91 140 3.1e-13 PFAM
Pfam:RCC1 143 193 7.5e-9 PFAM
Pfam:RCC1_2 180 209 1.5e-11 PFAM
Pfam:RCC1 196 243 2.6e-13 PFAM
Pfam:RCC1 246 296 4.4e-13 PFAM
Pfam:RCC1 300 348 1.7e-12 PFAM
Pfam:RCC1 352 402 1.3e-9 PFAM
low complexity region 433 460 N/A INTRINSIC
low complexity region 586 604 N/A INTRINSIC
low complexity region 620 631 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000115543
AA Change: V25D
SMART Domains Protein: ENSMUSP00000111205
Gene: ENSMUSG00000090084
AA Change: V25D

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
CCP 36 90 2.44e-14 SMART
Pfam:HYR 91 173 2.5e-28 PFAM
CCP 178 233 1.24e-15 SMART
Pfam:DUF4174 247 368 2.6e-30 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000115544
AA Change: V25D
SMART Domains Protein: ENSMUSP00000111206
Gene: ENSMUSG00000090084
AA Change: V25D

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
CCP 37 95 1.69e-8 SMART
CCP 100 154 2.44e-14 SMART
Pfam:HYR 155 237 2.1e-28 PFAM
CCP 242 297 1.24e-15 SMART
Pfam:DUF4174 311 432 2.1e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147334
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice either heterozygous or homozygous for a knock-out allele display increased sensitivity to malignant tumor formation at 7-12 months of age. In addition, homozygotes exhibit atypical lymphocyte morphhology and splenomegaly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A G 16: 88,773,646 S169P possibly damaging Het
Adap2 G A 11: 80,154,300 G29R probably damaging Het
Adcy2 A T 13: 68,729,328 I431N probably damaging Het
Amer3 T C 1: 34,587,796 V372A probably damaging Het
Aspm T A 1: 139,457,419 V267D probably benign Het
Atp6v0b A T 4: 117,885,222 V111E probably damaging Het
Clmp T A 9: 40,774,387 L193Q probably damaging Het
Dcaf7 T G 11: 106,051,876 Y216* probably null Het
Dcbld2 T A 16: 58,451,737 D385E probably benign Het
Des T A 1: 75,363,644 D398E possibly damaging Het
Fancm C T 12: 65,121,966 T1701I probably benign Het
Fat1 C A 8: 45,024,314 D2132E probably damaging Het
Fkbp14 T C 6: 54,579,682 K161R probably damaging Het
Fopnl T C 16: 14,304,475 K142E probably benign Het
Fuca2 C T 10: 13,507,429 probably benign Het
Gm4763 C T 7: 24,723,566 C109Y probably damaging Het
Habp2 T A 19: 56,314,232 probably null Het
Hectd4 T A 5: 121,365,053 Y4362N possibly damaging Het
Herc3 C T 6: 58,857,733 Q242* probably null Het
Igkv4-81 T C 6: 68,990,997 K40R probably benign Het
Irf5 C A 6: 29,536,672 H461N possibly damaging Het
Nav2 G A 7: 49,548,423 V1267M probably damaging Het
Nlk A G 11: 78,626,701 V155A probably benign Het
Nup214 C T 2: 31,988,229 H303Y possibly damaging Het
Pld1 A C 3: 28,112,247 M812L probably benign Het
Rab11fip3 C A 17: 26,067,679 R500L possibly damaging Het
Secisbp2l C T 2: 125,760,274 E389K probably benign Het
Serpina3a C T 12: 104,116,489 R174C probably benign Het
Spef2 T C 15: 9,713,243 R405G possibly damaging Het
St18 T A 1: 6,844,113 probably benign Het
Tcerg1 C T 18: 42,548,470 P561S probably damaging Het
Topbp1 T A 9: 103,328,435 N757K probably benign Het
Trrap G T 5: 144,815,964 L1782F probably damaging Het
Tut1 G T 19: 8,962,692 V347L probably damaging Het
Txnip T A 3: 96,558,366 V44D probably damaging Het
Usp8 C T 2: 126,737,937 T369I probably benign Het
Zzef1 A G 11: 72,855,398 N842S probably benign Het
Other mutations in Srpx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Srpx APN X 10039059 missense probably damaging 0.97
IGL02138:Srpx APN X 10067423 critical splice donor site probably null
IGL03260:Srpx APN X 10055748 nonsense probably null
Posted On2015-12-18