Incidental Mutation 'IGL01138:Shroom4'
ID 53357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shroom4
Ensembl Gene ENSMUSG00000068270
Gene Name shroom family member 4
Synonyms D430043L16Rik, Shrm4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01138
Quality Score
Status
Chromosome X
Chromosomal Location 6312012-6549508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6497257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 806 (S806P)
Ref Sequence ENSEMBL: ENSMUSP00000100070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089520] [ENSMUST00000103005] [ENSMUST00000143641]
AlphaFold Q1W617
Predicted Effect probably damaging
Transcript: ENSMUST00000089520
AA Change: S690P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086949
Gene: ENSMUSG00000068270
AA Change: S690P

DomainStartEndE-ValueType
low complexity region 72 84 N/A INTRINSIC
low complexity region 118 128 N/A INTRINSIC
low complexity region 441 454 N/A INTRINSIC
low complexity region 502 519 N/A INTRINSIC
low complexity region 541 552 N/A INTRINSIC
Pfam:ASD2 912 1352 8.9e-91 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103005
AA Change: S806P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100070
Gene: ENSMUSG00000068270
AA Change: S806P

DomainStartEndE-ValueType
PDZ 19 92 1.47e-12 SMART
low complexity region 188 200 N/A INTRINSIC
low complexity region 234 244 N/A INTRINSIC
low complexity region 557 570 N/A INTRINSIC
low complexity region 618 635 N/A INTRINSIC
low complexity region 657 668 N/A INTRINSIC
low complexity region 1091 1098 N/A INTRINSIC
coiled coil region 1107 1145 N/A INTRINSIC
Pfam:ASD2 1217 1468 9.4e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143641
SMART Domains Protein: ENSMUSP00000131806
Gene: ENSMUSG00000068270

DomainStartEndE-ValueType
SCOP:d1qava_ 1 40 6e-6 SMART
Blast:PDZ 1 41 8e-23 BLAST
PDB:2EDP|A 1 42 8e-23 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to Stocco dos Santos X-linked mental retardation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 61,002,673 (GRCm39) V27A probably benign Het
Abcg5 T A 17: 84,972,275 (GRCm39) R499S possibly damaging Het
Adamts13 T C 2: 26,873,054 (GRCm39) S341P probably damaging Het
Adgrg1 T A 8: 95,730,085 (GRCm39) C96S probably damaging Het
Arhgap44 A G 11: 64,932,275 (GRCm39) F215S probably damaging Het
Arhgef25 A G 10: 127,020,039 (GRCm39) F400L probably damaging Het
Baz1a T C 12: 54,977,110 (GRCm39) E384G probably damaging Het
Col12a1 T C 9: 79,585,335 (GRCm39) D1314G probably damaging Het
Col6a3 T A 1: 90,735,232 (GRCm39) I806F probably damaging Het
Coro1c G A 5: 113,990,222 (GRCm39) probably benign Het
Dnmt3b A T 2: 153,503,361 (GRCm39) D4V probably benign Het
Ermn G T 2: 57,942,707 (GRCm39) L8M possibly damaging Het
F13b T A 1: 139,444,950 (GRCm39) N533K probably damaging Het
Fam171a1 T C 2: 3,203,657 (GRCm39) V93A possibly damaging Het
Gpr107 T A 2: 31,062,028 (GRCm39) L152Q probably benign Het
Guca1a C A 17: 47,711,309 (GRCm39) E12D probably damaging Het
Igtp A G 11: 58,096,970 (GRCm39) N47S possibly damaging Het
Lratd2 T A 15: 60,694,967 (GRCm39) I260F probably damaging Het
Lrrc8e A G 8: 4,284,084 (GRCm39) N103S probably damaging Het
Lsmem1 A G 12: 40,230,698 (GRCm39) L68P probably damaging Het
Maml3 A G 3: 51,597,979 (GRCm39) S902P possibly damaging Het
Mkln1 A T 6: 31,409,925 (GRCm39) N188Y probably damaging Het
Mlxip C T 5: 123,588,219 (GRCm39) R771W probably damaging Het
Myf6 T C 10: 107,330,259 (GRCm39) R103G probably damaging Het
Ncam2 T A 16: 81,314,467 (GRCm39) I481K probably damaging Het
Nrap T A 19: 56,343,970 (GRCm39) S645C probably damaging Het
Nup205 G T 6: 35,185,019 (GRCm39) E813* probably null Het
Or13c7c A G 4: 43,835,617 (GRCm39) L291P probably damaging Het
Plekhg5 C T 4: 152,191,435 (GRCm39) R410W probably damaging Het
Pnma8b C A 7: 16,679,088 (GRCm39) T24K unknown Het
Polq A T 16: 36,866,231 (GRCm39) Y476F possibly damaging Het
Prkd2 T C 7: 16,582,736 (GRCm39) S200P probably damaging Het
Rif1 C A 2: 52,001,534 (GRCm39) L1663I probably damaging Het
Serpina5 A G 12: 104,070,003 (GRCm39) Y300C possibly damaging Het
Sirpa T C 2: 129,472,085 (GRCm39) V290A probably damaging Het
Slc25a47 C T 12: 108,821,948 (GRCm39) R246C probably damaging Het
Slc9a6 A G X: 55,668,791 (GRCm39) D199G probably damaging Het
Smarca5 T A 8: 81,427,705 (GRCm39) K1048M possibly damaging Het
Sos2 C T 12: 69,663,623 (GRCm39) probably benign Het
Trpm5 T A 7: 142,628,306 (GRCm39) M990L probably benign Het
Vmn2r99 A T 17: 19,602,885 (GRCm39) T547S probably damaging Het
Vps13b T C 15: 35,446,916 (GRCm39) probably benign Het
Zfp994 G A 17: 22,421,649 (GRCm39) probably benign Het
Other mutations in Shroom4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02501:Shroom4 APN X 6,495,998 (GRCm39) missense possibly damaging 0.71
IGL02978:Shroom4 APN X 6,497,244 (GRCm39) missense probably benign 0.08
FR4548:Shroom4 UTSW X 6,536,128 (GRCm39) small deletion probably benign
FR4589:Shroom4 UTSW X 6,536,115 (GRCm39) small deletion probably benign
FR4976:Shroom4 UTSW X 6,536,128 (GRCm39) small deletion probably benign
R3821:Shroom4 UTSW X 6,536,276 (GRCm39) nonsense probably null
R4812:Shroom4 UTSW X 6,536,180 (GRCm39) missense probably benign
R5384:Shroom4 UTSW X 6,497,523 (GRCm39) nonsense probably null
R5385:Shroom4 UTSW X 6,497,523 (GRCm39) nonsense probably null
R5386:Shroom4 UTSW X 6,497,523 (GRCm39) nonsense probably null
R9416:Shroom4 UTSW X 6,536,131 (GRCm39) small deletion probably benign
X0023:Shroom4 UTSW X 6,541,205 (GRCm39) missense probably damaging 1.00
X0028:Shroom4 UTSW X 6,496,556 (GRCm39) missense probably benign 0.07
Posted On 2013-06-21