Incidental Mutation 'R9762:Sox5'
ID 733069
Institutional Source Beutler Lab
Gene Symbol Sox5
Ensembl Gene ENSMUSG00000041540
Gene Name SRY (sex determining region Y)-box 5
Synonyms A730017D01Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9762 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 143774151-144727703 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143819842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 400 (K400R)
Ref Sequence ENSEMBL: ENSMUSP00000047567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038815] [ENSMUST00000077160] [ENSMUST00000111748] [ENSMUST00000111749] [ENSMUST00000124233] [ENSMUST00000144289] [ENSMUST00000170367]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000038815
AA Change: K400R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047567
Gene: ENSMUSG00000041540
AA Change: K400R

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 damaging
Transcript: ENSMUST00000077160
AA Change: K352R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000076403
Gene: ENSMUSG00000041540
AA Change: K352R

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 probably damaging
Transcript: ENSMUST00000111748
AA Change: K29R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107377
Gene: ENSMUSG00000041540
AA Change: K29R

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 possibly damaging
Transcript: ENSMUST00000111749
AA Change: K316R

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107378
Gene: ENSMUSG00000041540
AA Change: K316R

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 damaging
Transcript: ENSMUST00000124233
AA Change: K58R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114602
Gene: ENSMUSG00000041540
AA Change: K58R

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 probably damaging
Transcript: ENSMUST00000144289
AA Change: K78R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122786
Gene: ENSMUSG00000041540
AA Change: K78R

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 damaging
Transcript: ENSMUST00000170367
AA Change: K351R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133041
Gene: ENSMUSG00000041540
AA Change: K351R

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
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.6%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 G T 19: 57,025,691 (GRCm39) R851S probably damaging Het
Acap2 C A 16: 30,929,763 (GRCm39) A407S probably damaging Het
Adam26a A T 8: 44,021,635 (GRCm39) S618R probably benign Het
Adamtsl5 T C 10: 80,180,896 (GRCm39) Y89C probably damaging Het
Aebp2 T A 6: 140,588,021 (GRCm39) S364T probably damaging Het
Ankfy1 A G 11: 72,621,401 (GRCm39) E229G probably benign Het
Arhgap27 G T 11: 103,251,511 (GRCm39) D72E probably benign Het
Arhgap33 T C 7: 30,230,950 (GRCm39) E191G probably null Het
Atp6v0a1 C T 11: 100,946,427 (GRCm39) H807Y possibly damaging Het
Ccdc113 A C 8: 96,272,605 (GRCm39) E237D probably benign Het
Cd200r2 T A 16: 44,729,420 (GRCm39) I25K probably benign Het
Cd300c2 A G 11: 114,887,775 (GRCm39) V209A probably damaging Het
Cdkn2d T A 9: 21,200,383 (GRCm39) E129D probably benign Het
Cfap251 A G 5: 123,460,533 (GRCm39) Y1165C probably damaging Het
Chd9 A T 8: 91,712,741 (GRCm39) N855Y unknown Het
Cntn3 A G 6: 102,254,196 (GRCm39) C249R probably damaging Het
Col12a1 T C 9: 79,527,266 (GRCm39) E2688G possibly damaging Het
Copb2 C T 9: 98,464,901 (GRCm39) T612I probably benign Het
Cplx1 A T 5: 108,673,378 (GRCm39) D29E possibly damaging Het
Cracd A G 5: 77,006,555 (GRCm39) K972R unknown Het
Cstf3 A T 2: 104,494,684 (GRCm39) R645* probably null Het
Ctdp1 A T 18: 80,492,550 (GRCm39) Y648* probably null Het
Daam1 T A 12: 71,990,855 (GRCm39) D156E unknown Het
Dbn1 G A 13: 55,622,824 (GRCm39) P599L probably damaging Het
Diaph1 C A 18: 37,987,589 (GRCm39) V1056F probably damaging Het
Dzip3 A T 16: 48,748,707 (GRCm39) D870E probably damaging Het
Efcab12 T C 6: 115,800,331 (GRCm39) T231A possibly damaging Het
Efl1 A C 7: 82,412,596 (GRCm39) D995A probably benign Het
Fam186a T C 15: 99,842,393 (GRCm39) T1284A possibly damaging Het
Fbxo33 T C 12: 59,251,708 (GRCm39) E269G probably benign Het
Foxj3 T A 4: 119,483,540 (GRCm39) M604K unknown Het
Gabra4 A G 5: 71,814,463 (GRCm39) S86P unknown Het
Gnas G A 2: 174,140,639 (GRCm39) W269* probably null Het
Gpc6 T G 14: 118,202,258 (GRCm39) N489K probably damaging Het
Gprin3 T C 6: 59,331,236 (GRCm39) K357R possibly damaging Het
Grip1 G T 10: 119,811,906 (GRCm39) A286S possibly damaging Het
Grm4 A T 17: 27,721,688 (GRCm39) V151E probably damaging Het
Gucy1b1 A T 3: 81,942,065 (GRCm39) S565T possibly damaging Het
Hace1 T C 10: 45,525,014 (GRCm39) V260A probably benign Het
Hepacam2 A G 6: 3,486,940 (GRCm39) I139T probably damaging Het
Hspa4l T C 3: 40,727,057 (GRCm39) I486T probably benign Het
Igkv8-19 T C 6: 70,317,866 (GRCm39) Y120C probably damaging Het
Iglv2 C T 16: 19,079,548 (GRCm39) probably benign Het
Igsf10 A T 3: 59,237,106 (GRCm39) L1025H probably damaging Het
Itpkb A G 1: 180,161,752 (GRCm39) N626S probably benign Het
Jarid2 C T 13: 45,068,253 (GRCm39) R1092W possibly damaging Het
Klc3 C T 7: 19,132,023 (GRCm39) W118* probably null Het
Klhl25 C T 7: 75,516,741 (GRCm39) T549I probably damaging Het
Krtap6-2 T A 16: 89,216,763 (GRCm39) Y68F unknown Het
Mtcl1 T C 17: 66,673,347 (GRCm39) N1121D probably benign Het
Ncbp3 A G 11: 72,961,668 (GRCm39) K314R probably benign Het
Nop2 T C 6: 125,121,272 (GRCm39) W685R probably benign Het
Orc1 T A 4: 108,447,874 (GRCm39) D40E probably benign Het
Pappa2 G T 1: 158,684,948 (GRCm39) N730K probably damaging Het
Parpbp A G 10: 87,960,815 (GRCm39) S224P possibly damaging Het
Pdgfc A G 3: 80,944,792 (GRCm39) R17G probably benign Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Pik3r6 T A 11: 68,424,358 (GRCm39) L321* probably null Het
Pnp2 T C 14: 51,197,006 (GRCm39) W31R probably damaging Het
Prr12 T C 7: 44,696,954 (GRCm39) Y987C unknown Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Prss23 T C 7: 89,159,683 (GRCm39) I129V probably damaging Het
Rhno1 T C 6: 128,336,119 (GRCm39) T39A probably damaging Het
Rps2 A T 17: 24,940,810 (GRCm39) R279* probably null Het
Ski T C 4: 155,244,344 (GRCm39) K427R probably damaging Het
Slc23a3 ATT ATTT 1: 75,109,925 (GRCm39) probably null Het
Slc26a7 C T 4: 14,546,372 (GRCm39) G319D probably damaging Het
Slc7a6os A G 8: 106,937,523 (GRCm39) V8A probably damaging Het
Smim8 A C 4: 34,771,265 (GRCm39) I43S probably damaging Het
Tab1 G A 15: 80,032,943 (GRCm39) V76M probably damaging Het
Taf2 A C 15: 54,894,440 (GRCm39) probably null Het
Taf5 G A 19: 47,059,434 (GRCm39) V193M probably damaging Het
Tm2d1 A T 4: 98,246,261 (GRCm39) S180R probably damaging Het
Ttc12 A G 9: 49,368,166 (GRCm39) F287S probably damaging Het
Ubqln4 G A 3: 88,473,185 (GRCm39) probably null Het
Ubr3 T C 2: 69,839,497 (GRCm39) V1537A probably benign Het
Ugt8a A G 3: 125,708,900 (GRCm39) L70P probably damaging Het
Vps26a A T 10: 62,316,433 (GRCm39) N51K probably benign Het
Xkr5 T A 8: 18,990,749 (GRCm39) T173S probably benign Het
Zfp354c A G 11: 50,706,239 (GRCm39) C279R probably damaging Het
Zfp65 T A 13: 67,856,478 (GRCm39) H267L probably damaging Het
Other mutations in Sox5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Sox5 APN 6 144,062,198 (GRCm39) missense probably damaging 0.96
IGL03217:Sox5 APN 6 143,853,223 (GRCm39) missense probably damaging 1.00
Stocking UTSW 6 144,062,169 (GRCm39) critical splice donor site probably null
R0230:Sox5 UTSW 6 144,155,064 (GRCm39) missense probably benign 0.02
R0610:Sox5 UTSW 6 143,779,165 (GRCm39) missense possibly damaging 0.56
R1162:Sox5 UTSW 6 143,906,538 (GRCm39) missense probably damaging 1.00
R1857:Sox5 UTSW 6 143,906,541 (GRCm39) missense probably damaging 1.00
R1959:Sox5 UTSW 6 143,819,831 (GRCm39) missense possibly damaging 0.94
R4057:Sox5 UTSW 6 144,062,248 (GRCm39) missense probably damaging 1.00
R4164:Sox5 UTSW 6 144,062,206 (GRCm39) missense probably damaging 1.00
R4284:Sox5 UTSW 6 143,781,055 (GRCm39) missense probably damaging 1.00
R4430:Sox5 UTSW 6 143,987,000 (GRCm39) missense possibly damaging 0.57
R4470:Sox5 UTSW 6 143,790,491 (GRCm39) missense possibly damaging 0.54
R4471:Sox5 UTSW 6 143,790,491 (GRCm39) missense possibly damaging 0.54
R4672:Sox5 UTSW 6 143,779,075 (GRCm39) missense probably damaging 1.00
R4683:Sox5 UTSW 6 143,779,193 (GRCm39) missense probably damaging 0.99
R4693:Sox5 UTSW 6 143,781,042 (GRCm39) missense probably damaging 1.00
R4735:Sox5 UTSW 6 143,906,561 (GRCm39) missense probably damaging 1.00
R4745:Sox5 UTSW 6 143,779,214 (GRCm39) missense possibly damaging 0.53
R4762:Sox5 UTSW 6 143,807,109 (GRCm39) critical splice donor site probably null
R4996:Sox5 UTSW 6 143,974,070 (GRCm39) nonsense probably null
R5218:Sox5 UTSW 6 143,906,616 (GRCm39) missense possibly damaging 0.93
R5673:Sox5 UTSW 6 144,062,206 (GRCm39) missense probably damaging 1.00
R5856:Sox5 UTSW 6 144,155,088 (GRCm39) missense probably damaging 1.00
R6249:Sox5 UTSW 6 143,779,009 (GRCm39) missense probably benign 0.33
R6394:Sox5 UTSW 6 143,987,039 (GRCm39) missense probably damaging 1.00
R6703:Sox5 UTSW 6 143,779,191 (GRCm39) missense probably damaging 1.00
R6812:Sox5 UTSW 6 144,062,169 (GRCm39) critical splice donor site probably null
R7312:Sox5 UTSW 6 144,100,759 (GRCm39) missense probably benign
R7543:Sox5 UTSW 6 143,786,905 (GRCm39) missense probably damaging 0.96
R8110:Sox5 UTSW 6 144,062,200 (GRCm39) missense possibly damaging 0.92
R8231:Sox5 UTSW 6 143,974,014 (GRCm39) missense probably damaging 0.98
R8250:Sox5 UTSW 6 144,100,777 (GRCm39) missense possibly damaging 0.85
R8705:Sox5 UTSW 6 143,987,012 (GRCm39) missense possibly damaging 0.50
R8937:Sox5 UTSW 6 143,853,169 (GRCm39) missense probably benign 0.00
R9182:Sox5 UTSW 6 143,779,118 (GRCm39) missense possibly damaging 0.51
R9193:Sox5 UTSW 6 143,790,570 (GRCm39) missense probably benign 0.27
R9740:Sox5 UTSW 6 144,100,947 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACATGATGTCATCCAAATGCCG -3'
(R):5'- ACAACCAGGGCTCTGTAGAATG -3'

Sequencing Primer
(F):5'- TGTCATCCAAATGCCGTGAATGG -3'
(R):5'- AACCAGGGCTCTGTAGAATGTAGTTG -3'
Posted On 2022-11-14