Incidental Mutation 'R8468:Son'
ID 656930
Institutional Source Beutler Lab
Gene Symbol Son
Ensembl Gene ENSMUSG00000022961
Gene Name Son DNA binding protein
Synonyms 2900011L12Rik
MMRRC Submission 067912-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R8468 (G1)
Quality Score 101.465
Status Not validated
Chromosome 16
Chromosomal Location 91444712-91476080 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC to CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC at 91453579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000114036] [ENSMUST00000114037] [ENSMUST00000117633] [ENSMUST00000119368] [ENSMUST00000122302] [ENSMUST00000140312]
AlphaFold Q9QX47
Predicted Effect probably benign
Transcript: ENSMUST00000114036
SMART Domains Protein: ENSMUSP00000109670
Gene: ENSMUSG00000022961

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 benign
Transcript: ENSMUST00000114037
SMART Domains Protein: ENSMUSP00000109671
Gene: ENSMUSG00000022961

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 benign
Transcript: ENSMUST00000117633
SMART Domains Protein: ENSMUSP00000112453
Gene: ENSMUSG00000022961

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 probably benign
Transcript: ENSMUST00000119368
SMART Domains Protein: ENSMUSP00000113129
Gene: ENSMUSG00000022961

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 benign
Transcript: ENSMUST00000140312
SMART Domains Protein: ENSMUSP00000122320
Gene: ENSMUSG00000022961

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 A G 16: 85,592,444 (GRCm39) W655R possibly damaging Het
Adamts3 C T 5: 89,842,627 (GRCm39) A748T probably benign Het
Ano1 A C 7: 144,209,357 (GRCm39) F248C probably damaging Het
Ap2b1 T A 11: 83,241,891 (GRCm39) L628Q probably damaging Het
BC035947 C A 1: 78,474,967 (GRCm39) A522S probably damaging Het
Bdp1 A G 13: 100,197,076 (GRCm39) V1103A probably benign Het
Cd248 T A 19: 5,119,910 (GRCm39) I586N possibly damaging Het
Dnah9 C A 11: 65,722,556 (GRCm39) M4428I probably benign Het
Epha5 T C 5: 84,290,275 (GRCm39) probably null Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fastkd2 T A 1: 63,770,923 (GRCm39) L93Q probably benign Het
Gm6665 T C 18: 31,953,453 (GRCm39) D5G possibly damaging Het
Gphn T C 12: 78,273,601 (GRCm39) V17A probably benign Het
Gpr85 A T 6: 13,836,295 (GRCm39) L203H probably damaging Het
Grk6 A G 13: 55,599,198 (GRCm39) Y166C probably damaging Het
Ints3 A G 3: 90,313,560 (GRCm39) V356A probably damaging Het
Krt33b G A 11: 99,920,615 (GRCm39) R13C probably damaging Het
Lgals3 A G 14: 47,619,104 (GRCm39) I146V possibly damaging Het
Lrp1 G A 10: 127,394,519 (GRCm39) R2565C probably damaging Het
Miip G T 4: 147,945,928 (GRCm39) D325E probably damaging Het
Naaladl1 T A 19: 6,158,615 (GRCm39) V249E probably damaging Het
Nfxl1 C T 5: 72,675,548 (GRCm39) R811K possibly damaging Het
Or12e10 T C 2: 87,641,082 (GRCm39) I306T possibly damaging Het
Or2ag2b A G 7: 106,418,046 (GRCm39) Y252C possibly damaging Het
Or52e7 A T 7: 104,684,953 (GRCm39) I183F probably damaging Het
Or56a3b A G 7: 104,770,685 (GRCm39) D7G probably benign Het
Or5ak24 T A 2: 85,260,522 (GRCm39) Y217F probably damaging Het
Or6c69c C T 10: 129,910,303 (GRCm39) T8I probably benign Het
Pkd2l2 A G 18: 34,560,464 (GRCm39) D357G possibly damaging Het
Ppp1r36 A G 12: 76,482,979 (GRCm39) Y189C probably damaging Het
Rev3l A G 10: 39,703,987 (GRCm39) E2011G probably damaging Het
Sestd1 T A 2: 77,022,090 (GRCm39) T534S probably benign Het
Sfmbt1 G A 14: 30,495,941 (GRCm39) A75T probably benign Het
Smarcc2 G A 10: 128,320,262 (GRCm39) R882H probably benign Het
Speg C T 1: 75,407,953 (GRCm39) A3216V probably damaging Het
Vmn1r12 A G 6: 57,136,370 (GRCm39) T112A probably benign Het
Zfp937 T G 2: 150,080,634 (GRCm39) D221E 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
R7856:Son UTSW 16 91,456,146 (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
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'- AGCTTCTAACACCATGGAGACC -3'
(R):5'- GCTGGTTGCTAACATCTGGG -3'

Sequencing Primer
(F):5'- TGGAGACCCATATGTTAGCATCC -3'
(R):5'- GCTAACATCTGGGAGTCCATACTG -3'
Posted On 2021-01-18