Incidental Mutation 'IGL03217:Sox5'
ID413511
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox5
Ensembl Gene ENSMUSG00000041540
Gene NameSRY (sex determining region Y)-box 5
SynonymsA730017D01Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03217
Quality Score
Status
Chromosome6
Chromosomal Location143828425-144781977 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 143907497 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 352 (S352P)
Ref Sequence ENSEMBL: ENSMUSP00000047567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038815] [ENSMUST00000077160] [ENSMUST00000111748] [ENSMUST00000111749] [ENSMUST00000124233] [ENSMUST00000144289] [ENSMUST00000170367]
Predicted Effect probably damaging
Transcript: ENSMUST00000038815
AA Change: S352P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047567
Gene: ENSMUSG00000041540
AA Change: S352P

DomainStartEndE-ValueType
low complexity region 167 178 N/A INTRINSIC
coiled coil region 193 272 N/A INTRINSIC
low complexity region 336 348 N/A INTRINSIC
low complexity region 431 445 N/A INTRINSIC
coiled coil region 449 483 N/A INTRINSIC
low complexity region 494 505 N/A INTRINSIC
HMG 555 625 2.84e-26 SMART
low complexity region 686 708 N/A INTRINSIC
low complexity region 729 750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000077160
SMART Domains Protein: ENSMUSP00000076403
Gene: ENSMUSG00000041540

DomainStartEndE-ValueType
low complexity region 167 178 N/A INTRINSIC
coiled coil region 193 277 N/A INTRINSIC
low complexity region 383 397 N/A INTRINSIC
coiled coil region 401 435 N/A INTRINSIC
low complexity region 446 457 N/A INTRINSIC
HMG 507 577 2.84e-26 SMART
low complexity region 638 660 N/A INTRINSIC
low complexity region 681 702 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000111746
SMART Domains Protein: ENSMUSP00000107375
Gene: ENSMUSG00000041540

DomainStartEndE-ValueType
low complexity region 60 74 N/A INTRINSIC
coiled coil region 78 112 N/A INTRINSIC
low complexity region 123 134 N/A INTRINSIC
HMG 184 234 1.72e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111748
SMART Domains Protein: ENSMUSP00000107377
Gene: ENSMUSG00000041540

DomainStartEndE-ValueType
low complexity region 60 74 N/A INTRINSIC
coiled coil region 78 112 N/A INTRINSIC
low complexity region 123 134 N/A INTRINSIC
HMG 184 254 2.84e-26 SMART
low complexity region 315 337 N/A INTRINSIC
low complexity region 358 379 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111749
SMART Domains Protein: ENSMUSP00000107378
Gene: ENSMUSG00000041540

DomainStartEndE-ValueType
low complexity region 132 143 N/A INTRINSIC
coiled coil region 158 237 N/A INTRINSIC
low complexity region 347 361 N/A INTRINSIC
coiled coil region 365 399 N/A INTRINSIC
low complexity region 410 421 N/A INTRINSIC
HMG 471 541 2.84e-26 SMART
low complexity region 602 624 N/A INTRINSIC
low complexity region 645 666 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124233
SMART Domains Protein: ENSMUSP00000114602
Gene: ENSMUSG00000041540

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 89 103 N/A INTRINSIC
coiled coil region 107 141 N/A INTRINSIC
low complexity region 152 163 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141102
Predicted Effect possibly damaging
Transcript: ENSMUST00000144289
AA Change: S30P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122786
Gene: ENSMUSG00000041540
AA Change: S30P

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
low complexity region 109 123 N/A INTRINSIC
coiled coil region 127 161 N/A INTRINSIC
low complexity region 172 183 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170367
SMART Domains Protein: ENSMUSP00000133041
Gene: ENSMUSG00000041540

DomainStartEndE-ValueType
low complexity region 167 178 N/A INTRINSIC
coiled coil region 193 272 N/A INTRINSIC
low complexity region 382 396 N/A INTRINSIC
coiled coil region 400 434 N/A INTRINSIC
low complexity region 445 456 N/A INTRINSIC
HMG 506 576 2.84e-26 SMART
low complexity region 637 659 N/A INTRINSIC
low complexity region 680 701 N/A INTRINSIC
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 SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice fail to breathe and die at birth exhibiting a narrow thoracic cage, irregularly mineralized sternum, cleft secondary palate, and delayed bone mineralization. Homozygotes for a transposon induced insertion die shortly after birth exhibiting cyanosis and respiratory distress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,349,995 I29T probably damaging Het
Adam2 G A 14: 66,034,813 P640L possibly damaging Het
Ccl4 T C 11: 83,662,678 S6P unknown Het
Cd300lf T A 11: 115,124,291 T151S possibly damaging Het
Elk4 A G 1: 132,018,040 T219A probably benign Het
Eml1 G T 12: 108,534,942 E680D probably benign Het
Gm9755 T C 8: 67,514,383 noncoding transcript Het
Hmcn1 A T 1: 150,743,667 I1232N possibly damaging Het
Maml2 T C 9: 13,619,999 S170P probably damaging Het
Mettl16 T A 11: 74,817,703 M536K probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nxf2 T C X: 134,955,532 I287V probably benign Het
Nyap2 A G 1: 81,087,322 D17G probably damaging Het
Pde6b T C 5: 108,419,566 C270R probably damaging Het
Ptchd1 T C X: 155,573,959 D750G probably damaging Het
Rrn3 G A 16: 13,809,011 E490K possibly damaging Het
Slc27a2 G A 2: 126,586,252 G519D possibly damaging Het
Spg20 G T 3: 55,128,491 probably benign Het
Sult1e1 T C 5: 87,590,088 T45A possibly damaging Het
Tat G A 8: 109,995,186 V242I probably benign Het
Zfp442 A G 2: 150,409,794 probably benign Het
Other mutations in Sox5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Sox5 APN 6 144116472 missense probably damaging 0.96
Stocking UTSW 6 144116443 critical splice donor site probably null
R0230:Sox5 UTSW 6 144209338 missense probably benign 0.02
R0610:Sox5 UTSW 6 143833439 missense possibly damaging 0.56
R1162:Sox5 UTSW 6 143960812 missense probably damaging 1.00
R1857:Sox5 UTSW 6 143960815 missense probably damaging 1.00
R1959:Sox5 UTSW 6 143874105 missense possibly damaging 0.94
R4057:Sox5 UTSW 6 144116522 missense probably damaging 1.00
R4164:Sox5 UTSW 6 144116480 missense probably damaging 1.00
R4284:Sox5 UTSW 6 143835329 missense probably damaging 1.00
R4430:Sox5 UTSW 6 144041274 missense possibly damaging 0.57
R4470:Sox5 UTSW 6 143844765 missense possibly damaging 0.54
R4471:Sox5 UTSW 6 143844765 missense possibly damaging 0.54
R4672:Sox5 UTSW 6 143833349 missense probably damaging 1.00
R4683:Sox5 UTSW 6 143833467 missense probably damaging 0.99
R4693:Sox5 UTSW 6 143835316 missense probably damaging 1.00
R4735:Sox5 UTSW 6 143960835 missense probably damaging 1.00
R4745:Sox5 UTSW 6 143833488 missense possibly damaging 0.53
R4762:Sox5 UTSW 6 143861383 critical splice donor site probably null
R4996:Sox5 UTSW 6 144028344 nonsense probably null
R5218:Sox5 UTSW 6 143960890 missense possibly damaging 0.93
R5673:Sox5 UTSW 6 144116480 missense probably damaging 1.00
R5856:Sox5 UTSW 6 144209362 missense probably damaging 1.00
R6249:Sox5 UTSW 6 143833283 missense probably benign 0.33
R6394:Sox5 UTSW 6 144041313 missense probably damaging 1.00
R6703:Sox5 UTSW 6 143833465 missense probably damaging 1.00
R6812:Sox5 UTSW 6 144116443 critical splice donor site probably null
R7312:Sox5 UTSW 6 144155033 missense probably benign
R7543:Sox5 UTSW 6 143841179 missense probably damaging 0.96
R8110:Sox5 UTSW 6 144116474 missense possibly damaging 0.92
R8231:Sox5 UTSW 6 144028288 missense probably damaging 0.98
R8250:Sox5 UTSW 6 144155051 missense possibly damaging 0.85
Posted On2016-08-02