Incidental Mutation 'R7856:Son'
ID 607250
Institutional Source Beutler Lab
Gene Symbol Son
Ensembl Gene ENSMUSG00000022961
Gene Name Son DNA binding protein
Synonyms 2900011L12Rik
MMRRC Submission 045909-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R7856 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 91444712-91476080 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91456146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1631 (D1631G)
Ref Sequence ENSEMBL: ENSMUSP00000109671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114036] [ENSMUST00000114037] [ENSMUST00000117633] [ENSMUST00000119368] [ENSMUST00000122302] [ENSMUST00000140312]
AlphaFold Q9QX47
Predicted Effect possibly damaging
Transcript: ENSMUST00000114036
AA Change: D1631G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109670
Gene: ENSMUSG00000022961
AA Change: D1631G

DomainStartEndE-ValueType
coiled coil region 106 132 N/A INTRINSIC
internal_repeat_1 155 350 1.65e-7 PROSPERO
internal_repeat_2 214 362 6.55e-6 PROSPERO
low complexity region 391 403 N/A INTRINSIC
low complexity region 459 469 N/A INTRINSIC
internal_repeat_1 507 750 1.65e-7 PROSPERO
low complexity region 975 1021 N/A INTRINSIC
low complexity region 1124 1135 N/A INTRINSIC
low complexity region 1141 1172 N/A INTRINSIC
internal_repeat_2 1208 1347 6.55e-6 PROSPERO
low complexity region 1354 1376 N/A INTRINSIC
low complexity region 1386 1407 N/A INTRINSIC
low complexity region 1805 1811 N/A INTRINSIC
low complexity region 1838 2067 N/A INTRINSIC
low complexity region 2080 2091 N/A INTRINSIC
low complexity region 2094 2105 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114037
AA Change: D1631G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109671
Gene: ENSMUSG00000022961
AA Change: D1631G

DomainStartEndE-ValueType
coiled coil region 106 132 N/A INTRINSIC
internal_repeat_1 155 350 1.71e-7 PROSPERO
internal_repeat_2 214 362 7.05e-6 PROSPERO
low complexity region 391 403 N/A INTRINSIC
low complexity region 459 469 N/A INTRINSIC
internal_repeat_1 507 750 1.71e-7 PROSPERO
low complexity region 975 1021 N/A INTRINSIC
low complexity region 1124 1135 N/A INTRINSIC
low complexity region 1141 1172 N/A INTRINSIC
internal_repeat_2 1208 1347 7.05e-6 PROSPERO
low complexity region 1354 1376 N/A INTRINSIC
low complexity region 1386 1407 N/A INTRINSIC
low complexity region 1805 1811 N/A INTRINSIC
low complexity region 1838 2067 N/A INTRINSIC
low complexity region 2080 2091 N/A INTRINSIC
low complexity region 2094 2105 N/A INTRINSIC
low complexity region 2149 2155 N/A INTRINSIC
G_patch 2321 2367 1.15e-17 SMART
Pfam:DND1_DSRM 2388 2442 5.7e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117633
AA Change: D1631G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112453
Gene: ENSMUSG00000022961
AA Change: D1631G

DomainStartEndE-ValueType
coiled coil region 106 132 N/A INTRINSIC
internal_repeat_1 155 350 1.59e-7 PROSPERO
internal_repeat_2 214 362 6.63e-6 PROSPERO
low complexity region 391 403 N/A INTRINSIC
low complexity region 459 469 N/A INTRINSIC
internal_repeat_1 507 750 1.59e-7 PROSPERO
low complexity region 975 1021 N/A INTRINSIC
low complexity region 1124 1135 N/A INTRINSIC
low complexity region 1141 1172 N/A INTRINSIC
internal_repeat_2 1208 1347 6.63e-6 PROSPERO
low complexity region 1354 1376 N/A INTRINSIC
low complexity region 1386 1407 N/A INTRINSIC
low complexity region 1805 1811 N/A INTRINSIC
Pfam:RSRP 1909 2216 1e-12 PFAM
G_patch 2321 2367 1.15e-17 SMART
DSRM 2390 2458 5.37e-20 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000119368
AA Change: D1631G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113129
Gene: ENSMUSG00000022961
AA Change: D1631G

DomainStartEndE-ValueType
coiled coil region 106 132 N/A INTRINSIC
internal_repeat_1 155 350 2.22e-7 PROSPERO
internal_repeat_2 214 362 8.67e-6 PROSPERO
low complexity region 391 403 N/A INTRINSIC
low complexity region 459 469 N/A INTRINSIC
internal_repeat_1 507 750 2.22e-7 PROSPERO
low complexity region 975 1021 N/A INTRINSIC
low complexity region 1124 1135 N/A INTRINSIC
low complexity region 1141 1172 N/A INTRINSIC
internal_repeat_2 1208 1347 8.67e-6 PROSPERO
low complexity region 1354 1376 N/A INTRINSIC
low complexity region 1386 1407 N/A INTRINSIC
low complexity region 1805 1811 N/A INTRINSIC
low complexity region 1838 2067 N/A INTRINSIC
low complexity region 2080 2091 N/A INTRINSIC
low complexity region 2094 2105 N/A INTRINSIC
low complexity region 2149 2155 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122302
SMART Domains Protein: ENSMUSP00000113615
Gene: ENSMUSG00000022961

DomainStartEndE-ValueType
low complexity region 90 101 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 159 165 N/A INTRINSIC
G_patch 331 377 1.15e-17 SMART
Pfam:DND1_DSRM 398 452 7.9e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000140312
AA Change: D1631G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122320
Gene: ENSMUSG00000022961
AA Change: D1631G

DomainStartEndE-ValueType
coiled coil region 106 132 N/A INTRINSIC
internal_repeat_1 155 350 2.93e-7 PROSPERO
internal_repeat_2 214 362 1.1e-5 PROSPERO
low complexity region 391 403 N/A INTRINSIC
low complexity region 459 469 N/A INTRINSIC
internal_repeat_1 507 750 2.93e-7 PROSPERO
low complexity region 975 1021 N/A INTRINSIC
low complexity region 1124 1135 N/A INTRINSIC
low complexity region 1141 1172 N/A INTRINSIC
internal_repeat_2 1208 1347 1.1e-5 PROSPERO
low complexity region 1354 1376 N/A INTRINSIC
low complexity region 1386 1407 N/A INTRINSIC
low complexity region 1805 1811 N/A INTRINSIC
low complexity region 1838 2067 N/A INTRINSIC
low complexity region 2080 2091 N/A INTRINSIC
low complexity region 2094 2105 N/A INTRINSIC
low complexity region 2149 2155 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147891
SMART Domains Protein: ENSMUSP00000122544
Gene: ENSMUSG00000022961

DomainStartEndE-ValueType
Pfam:RSRP 61 358 2.9e-13 PFAM
low complexity region 466 477 N/A INTRINSIC
Meta Mutation Damage Score 0.0997 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (36/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1h T C 17: 25,608,451 (GRCm39) T819A probably damaging Het
Ccdc34 T A 2: 109,874,572 (GRCm39) Y310* probably null Het
Ccdc63 A G 5: 122,268,006 (GRCm39) W8R probably benign Het
Ces2g G A 8: 105,693,014 (GRCm39) V351I not run Het
Ces3b A G 8: 105,819,894 (GRCm39) *572W probably null Het
Dgka T C 10: 128,572,533 (GRCm39) N40S probably benign Het
Dnajc13 C A 9: 104,044,684 (GRCm39) R1835L possibly damaging Het
Dusp7 C A 9: 106,246,067 (GRCm39) A24E unknown Het
Ep400 T A 5: 110,814,450 (GRCm39) T2931S probably damaging Het
Gm4847 A T 1: 166,462,395 (GRCm39) L365Q probably damaging Het
Gtse1 C T 15: 85,748,342 (GRCm39) T249M probably benign Het
Hook3 T C 8: 26,525,249 (GRCm39) D619G probably damaging Het
Itsn1 T A 16: 91,705,375 (GRCm39) probably null Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Mx1 A G 16: 97,256,735 (GRCm39) I148T probably damaging Het
Or5m3 T A 2: 85,838,640 (GRCm39) N173K probably damaging Het
Or6c1b A G 10: 129,272,885 (GRCm39) E68G probably damaging Het
Orc3 T C 4: 34,585,647 (GRCm39) I416V probably benign Het
Plcxd3 A T 15: 4,546,581 (GRCm39) Y195F probably damaging Het
Ppp1r3a A T 6: 14,718,025 (GRCm39) I963N probably benign Het
Ppp1r7 A G 1: 93,278,068 (GRCm39) D69G possibly damaging Het
Rars1 A G 11: 35,699,412 (GRCm39) V627A probably benign Het
Sash1 A G 10: 8,605,472 (GRCm39) S973P probably benign Het
Slc22a28 T C 19: 8,040,698 (GRCm39) T518A probably damaging Het
Slc4a9 C T 18: 36,661,751 (GRCm39) H92Y probably benign Het
Stat5a T C 11: 100,774,728 (GRCm39) W746R unknown Het
Thsd4 A T 9: 59,910,144 (GRCm39) L508Q probably damaging Het
Tlx1 C T 19: 45,144,427 (GRCm39) Q292* probably null Het
Ttc34 T C 4: 154,945,743 (GRCm39) V259A probably benign Het
Xrn2 T G 2: 146,910,393 (GRCm39) probably null Het
Yif1b A G 7: 28,944,045 (GRCm39) D137G possibly damaging Het
Zfp850 A G 7: 27,689,899 (GRCm39) I103T probably benign Het
Zfp937 T C 2: 150,081,467 (GRCm39) V499A probably benign Het
Other mutations in Son
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00531:Son APN 16 91,461,210 (GRCm39) missense probably damaging 0.99
IGL01024:Son APN 16 91,452,798 (GRCm39) missense probably damaging 1.00
IGL01066:Son APN 16 91,457,024 (GRCm39) intron probably benign
IGL01083:Son APN 16 91,454,279 (GRCm39) missense probably damaging 1.00
IGL01115:Son APN 16 91,456,346 (GRCm39) missense probably benign 0.31
IGL01467:Son APN 16 91,454,165 (GRCm39) missense possibly damaging 0.93
IGL01506:Son APN 16 91,454,174 (GRCm39) missense possibly damaging 0.67
IGL01933:Son APN 16 91,454,903 (GRCm39) missense probably benign 0.00
IGL02156:Son APN 16 91,452,992 (GRCm39) missense possibly damaging 0.93
IGL02473:Son APN 16 91,455,683 (GRCm39) missense probably damaging 0.99
IGL02498:Son APN 16 91,453,713 (GRCm39) missense probably damaging 0.99
IGL02517:Son APN 16 91,452,099 (GRCm39) missense possibly damaging 0.92
IGL02530:Son APN 16 91,455,359 (GRCm39) missense possibly damaging 0.50
IGL02865:Son APN 16 91,448,640 (GRCm39) missense probably damaging 1.00
IGL03180:Son APN 16 91,453,896 (GRCm39) missense probably damaging 1.00
R0013:Son UTSW 16 91,448,550 (GRCm39) missense probably damaging 1.00
R0036:Son UTSW 16 91,457,054 (GRCm39) intron probably benign
R0037:Son UTSW 16 91,461,616 (GRCm39) missense probably damaging 1.00
R0041:Son UTSW 16 91,456,221 (GRCm39) missense probably damaging 1.00
R0048:Son UTSW 16 91,455,865 (GRCm39) missense possibly damaging 0.94
R0048:Son UTSW 16 91,455,865 (GRCm39) missense possibly damaging 0.94
R0056:Son UTSW 16 91,475,043 (GRCm39) missense possibly damaging 0.86
R0227:Son UTSW 16 91,453,761 (GRCm39) missense probably damaging 0.99
R0256:Son UTSW 16 91,453,472 (GRCm39) missense possibly damaging 0.95
R0302:Son UTSW 16 91,453,032 (GRCm39) missense probably damaging 1.00
R0815:Son UTSW 16 91,452,372 (GRCm39) missense probably damaging 0.98
R1225:Son UTSW 16 91,454,228 (GRCm39) missense probably damaging 1.00
R1255:Son UTSW 16 91,461,583 (GRCm39) missense probably damaging 1.00
R1457:Son UTSW 16 91,453,974 (GRCm39) missense probably damaging 1.00
R1459:Son UTSW 16 91,452,230 (GRCm39) missense possibly damaging 0.93
R1535:Son UTSW 16 91,456,622 (GRCm39) missense probably damaging 0.99
R1587:Son UTSW 16 91,456,606 (GRCm39) missense probably damaging 1.00
R1605:Son UTSW 16 91,454,552 (GRCm39) missense probably damaging 1.00
R1629:Son UTSW 16 91,454,510 (GRCm39) missense probably damaging 1.00
R1711:Son UTSW 16 91,457,114 (GRCm39) intron probably benign
R2138:Son UTSW 16 91,456,260 (GRCm39) missense possibly damaging 0.95
R2245:Son UTSW 16 91,444,848 (GRCm39) splice site probably null
R2351:Son UTSW 16 91,454,547 (GRCm39) missense probably damaging 0.98
R2434:Son UTSW 16 91,451,575 (GRCm39) missense probably damaging 1.00
R2870:Son UTSW 16 91,461,205 (GRCm39) splice site probably null
R2871:Son UTSW 16 91,461,205 (GRCm39) splice site probably null
R2872:Son UTSW 16 91,461,205 (GRCm39) splice site probably null
R2889:Son UTSW 16 91,456,787 (GRCm39) unclassified probably benign
R3712:Son UTSW 16 91,453,614 (GRCm39) missense probably damaging 0.99
R3913:Son UTSW 16 91,456,999 (GRCm39) intron probably benign
R4172:Son UTSW 16 91,456,250 (GRCm39) missense probably damaging 1.00
R4301:Son UTSW 16 91,455,299 (GRCm39) missense possibly damaging 0.53
R4302:Son UTSW 16 91,455,299 (GRCm39) missense possibly damaging 0.53
R4770:Son UTSW 16 91,455,756 (GRCm39) missense probably damaging 0.96
R4881:Son UTSW 16 91,472,397 (GRCm39) missense probably benign 0.31
R5020:Son UTSW 16 91,453,263 (GRCm39) missense probably damaging 1.00
R5032:Son UTSW 16 91,454,552 (GRCm39) missense probably damaging 1.00
R5151:Son UTSW 16 91,452,587 (GRCm39) missense probably damaging 1.00
R5153:Son UTSW 16 91,451,910 (GRCm39) missense possibly damaging 0.86
R5215:Son UTSW 16 91,453,563 (GRCm39) missense probably damaging 0.99
R5243:Son UTSW 16 91,451,621 (GRCm39) missense probably damaging 1.00
R5354:Son UTSW 16 91,452,627 (GRCm39) missense probably damaging 0.99
R5529:Son UTSW 16 91,452,354 (GRCm39) missense probably damaging 1.00
R5696:Son UTSW 16 91,468,301 (GRCm39) missense possibly damaging 0.67
R5763:Son UTSW 16 91,454,378 (GRCm39) missense probably damaging 1.00
R5766:Son UTSW 16 91,461,875 (GRCm39) intron probably benign
R5788:Son UTSW 16 91,456,940 (GRCm39) intron probably benign
R5992:Son UTSW 16 91,455,792 (GRCm39) missense probably benign 0.04
R6314:Son UTSW 16 91,457,298 (GRCm39) intron probably benign
R6371:Son UTSW 16 91,471,629 (GRCm39)
R6429:Son UTSW 16 91,455,054 (GRCm39) missense probably benign 0.33
R6451:Son UTSW 16 91,454,490 (GRCm39) missense probably damaging 0.99
R6489:Son UTSW 16 91,452,044 (GRCm39) missense possibly damaging 0.70
R6513:Son UTSW 16 91,456,835 (GRCm39) intron probably benign
R6753:Son UTSW 16 91,454,076 (GRCm39) missense probably damaging 0.99
R6916:Son UTSW 16 91,451,673 (GRCm39) missense probably damaging 0.97
R7070:Son UTSW 16 91,453,729 (GRCm39) unclassified probably benign
R7079:Son UTSW 16 91,453,729 (GRCm39) unclassified probably benign
R7110:Son UTSW 16 91,453,406 (GRCm39) missense probably benign 0.01
R7120:Son UTSW 16 91,467,414 (GRCm39) missense unknown
R7120:Son UTSW 16 91,453,579 (GRCm39) unclassified probably benign
R7167:Son UTSW 16 91,457,222 (GRCm39) small deletion probably benign
R7205:Son UTSW 16 91,457,183 (GRCm39) small deletion probably benign
R7208:Son UTSW 16 91,458,990 (GRCm39) missense unknown
R7219:Son UTSW 16 91,461,889 (GRCm39) missense unknown
R7249:Son UTSW 16 91,457,222 (GRCm39) small deletion probably benign
R7328:Son UTSW 16 91,455,278 (GRCm39) missense probably benign 0.33
R7330:Son UTSW 16 91,453,486 (GRCm39) unclassified probably benign
R7374:Son UTSW 16 91,457,222 (GRCm39) small deletion probably benign
R7405:Son UTSW 16 91,453,579 (GRCm39) unclassified probably benign
R7420:Son UTSW 16 91,457,222 (GRCm39) small deletion probably benign
R7424:Son UTSW 16 91,457,222 (GRCm39) small deletion probably benign
R7464:Son UTSW 16 91,453,579 (GRCm39) unclassified probably benign
R7514:Son UTSW 16 91,451,748 (GRCm39) missense probably damaging 0.99
R7555:Son UTSW 16 91,455,810 (GRCm39) missense probably damaging 0.99
R7645:Son UTSW 16 91,457,183 (GRCm39) small deletion probably benign
R7716:Son UTSW 16 91,453,579 (GRCm39) unclassified probably benign
R7718:Son UTSW 16 91,457,222 (GRCm39) small deletion probably benign
R7778:Son UTSW 16 91,453,416 (GRCm39) missense probably damaging 0.99
R7824:Son UTSW 16 91,453,416 (GRCm39) missense probably damaging 0.99
R7870:Son UTSW 16 91,453,486 (GRCm39) unclassified probably benign
R7928:Son UTSW 16 91,453,729 (GRCm39) unclassified probably benign
R7972:Son UTSW 16 91,457,222 (GRCm39) small deletion probably benign
R7978:Son UTSW 16 91,457,222 (GRCm39) small deletion probably benign
R8000:Son UTSW 16 91,457,222 (GRCm39) small deletion probably benign
R8192:Son UTSW 16 91,452,437 (GRCm39) missense possibly damaging 0.91
R8221:Son UTSW 16 91,453,734 (GRCm39) missense probably damaging 1.00
R8227:Son UTSW 16 91,453,579 (GRCm39) unclassified probably benign
R8233:Son UTSW 16 91,457,222 (GRCm39) small deletion probably benign
R8255:Son UTSW 16 91,461,824 (GRCm39) missense unknown
R8292:Son UTSW 16 91,453,545 (GRCm39) missense possibly damaging 0.93
R8407:Son UTSW 16 91,457,222 (GRCm39) small deletion probably benign
R8468:Son UTSW 16 91,453,579 (GRCm39) unclassified probably benign
R8495:Son UTSW 16 91,457,183 (GRCm39) small deletion probably benign
R8772:Son UTSW 16 91,454,826 (GRCm39) missense possibly damaging 0.65
R8796:Son UTSW 16 91,457,222 (GRCm39) small deletion probably benign
R8862:Son UTSW 16 91,453,734 (GRCm39) missense probably damaging 1.00
R8962:Son UTSW 16 91,455,057 (GRCm39) missense possibly damaging 0.91
R8972:Son UTSW 16 91,457,222 (GRCm39) small deletion probably benign
R8991:Son UTSW 16 91,453,608 (GRCm39) missense possibly damaging 0.95
R8991:Son UTSW 16 91,453,366 (GRCm39) missense probably benign 0.04
R9086:Son UTSW 16 91,467,418 (GRCm39) missense unknown
R9138:Son UTSW 16 91,452,006 (GRCm39) missense possibly damaging 0.80
R9232:Son UTSW 16 91,453,579 (GRCm39) unclassified probably benign
R9241:Son UTSW 16 91,454,122 (GRCm39) missense probably damaging 0.96
R9258:Son UTSW 16 91,474,570 (GRCm39) missense unknown
R9328:Son UTSW 16 91,452,645 (GRCm39) missense possibly damaging 0.67
R9420:Son UTSW 16 91,454,508 (GRCm39) missense probably damaging 0.98
R9468:Son UTSW 16 91,454,439 (GRCm39) missense possibly damaging 0.53
R9500:Son UTSW 16 91,457,222 (GRCm39) small deletion probably benign
R9516:Son UTSW 16 91,453,579 (GRCm39) unclassified probably benign
R9595:Son UTSW 16 91,454,241 (GRCm39) missense possibly damaging 0.73
R9679:Son UTSW 16 91,457,222 (GRCm39) small deletion probably benign
R9719:Son UTSW 16 91,456,440 (GRCm39) missense probably damaging 0.96
R9749:Son UTSW 16 91,453,579 (GRCm39) unclassified probably benign
R9772:Son UTSW 16 91,457,222 (GRCm39) small deletion probably benign
R9782:Son UTSW 16 91,444,838 (GRCm39) missense probably damaging 0.99
R9788:Son UTSW 16 91,453,699 (GRCm39) unclassified probably benign
RF007:Son UTSW 16 91,456,257 (GRCm39) missense possibly damaging 0.53
RF041:Son UTSW 16 91,453,579 (GRCm39) unclassified probably benign
Z1176:Son UTSW 16 91,452,689 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- TGCAGAGCATAACACAGTGTG -3'
(R):5'- CCTGGGCACTCTCTTTGATAG -3'

Sequencing Primer
(F):5'- CACAGTGTGTGCTACTACCG -3'
(R):5'- GCACTCTCTTTGATAGGTAACGAGTC -3'
Posted On 2019-12-20