Incidental Mutation 'IGL02953:Srpx'
ID 365000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srpx
Ensembl Gene ENSMUSG00000090084
Gene Name sushi-repeat-containing protein
Synonyms drs-1, drs-2
Accession Numbers
Essential gene? Not available question?
Stock # IGL02953
Quality Score
Status
Chromosome X
Chromosomal Location 9904216-9983879 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 9983706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000072229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044789] [ENSMUST00000072393] [ENSMUST00000115543] [ENSMUST00000115544]
AlphaFold Q9R0M3
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: 88,570,534 (GRCm39) S169P possibly damaging Het
Adap2 G A 11: 80,045,126 (GRCm39) G29R probably damaging Het
Adcy2 A T 13: 68,877,447 (GRCm39) I431N probably damaging Het
Amer3 T C 1: 34,626,877 (GRCm39) V372A probably damaging Het
Aspm T A 1: 139,385,157 (GRCm39) V267D probably benign Het
Atp6v0b A T 4: 117,742,419 (GRCm39) V111E probably damaging Het
Cep20 T C 16: 14,122,339 (GRCm39) K142E probably benign Het
Clmp T A 9: 40,685,683 (GRCm39) L193Q probably damaging Het
Dcaf7 T G 11: 105,942,702 (GRCm39) Y216* probably null Het
Dcbld2 T A 16: 58,272,100 (GRCm39) D385E probably benign Het
Des T A 1: 75,340,288 (GRCm39) D398E possibly damaging Het
Fancm C T 12: 65,168,740 (GRCm39) T1701I probably benign Het
Fat1 C A 8: 45,477,351 (GRCm39) D2132E probably damaging Het
Fkbp14 T C 6: 54,556,667 (GRCm39) K161R probably damaging Het
Fuca2 C T 10: 13,383,173 (GRCm39) probably benign Het
Habp2 T A 19: 56,302,664 (GRCm39) probably null Het
Hectd4 T A 5: 121,503,116 (GRCm39) Y4362N possibly damaging Het
Herc3 C T 6: 58,834,718 (GRCm39) Q242* probably null Het
Igkv4-81 T C 6: 68,967,981 (GRCm39) K40R probably benign Het
Irf5 C A 6: 29,536,671 (GRCm39) H461N possibly damaging Het
Lypd11 C T 7: 24,422,991 (GRCm39) C109Y probably damaging Het
Nav2 G A 7: 49,198,171 (GRCm39) V1267M probably damaging Het
Nlk A G 11: 78,517,527 (GRCm39) V155A probably benign Het
Nup214 C T 2: 31,878,241 (GRCm39) H303Y possibly damaging Het
Pld1 A C 3: 28,166,396 (GRCm39) M812L probably benign Het
Rab11fip3 C A 17: 26,286,653 (GRCm39) R500L possibly damaging Het
Secisbp2l C T 2: 125,602,194 (GRCm39) E389K probably benign Het
Serpina3a C T 12: 104,082,748 (GRCm39) R174C probably benign Het
Spef2 T C 15: 9,713,329 (GRCm39) R405G possibly damaging Het
St18 T A 1: 6,914,337 (GRCm39) probably benign Het
Tcerg1 C T 18: 42,681,535 (GRCm39) P561S probably damaging Het
Topbp1 T A 9: 103,205,634 (GRCm39) N757K probably benign Het
Trrap G T 5: 144,752,774 (GRCm39) L1782F probably damaging Het
Tut1 G T 19: 8,940,056 (GRCm39) V347L probably damaging Het
Txnip T A 3: 96,465,682 (GRCm39) V44D probably damaging Het
Usp8 C T 2: 126,579,857 (GRCm39) T369I probably benign Het
Zzef1 A G 11: 72,746,224 (GRCm39) N842S probably benign Het
Other mutations in Srpx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Srpx APN X 9,905,298 (GRCm39) missense probably damaging 0.97
IGL02138:Srpx APN X 9,933,662 (GRCm39) critical splice donor site probably null
IGL03260:Srpx APN X 9,921,987 (GRCm39) nonsense probably null
Posted On 2015-12-18