Incidental Mutation 'R1263:Sanbr'
ID 151669
Institutional Source Beutler Lab
Gene Symbol Sanbr
Ensembl Gene ENSMUSG00000042208
Gene Name SANT and BTB domain regulator of CSR
Synonyms 0610010F05Rik
MMRRC Submission 039330-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R1263 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 23514961-23583639 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 23570278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 207 (Y207*)
Ref Sequence ENSEMBL: ENSMUSP00000136118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000141353] [ENSMUST00000155903] [ENSMUST00000180260]
AlphaFold Q68FF0
Predicted Effect probably null
Transcript: ENSMUST00000043356
AA Change: Y207*
SMART Domains Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208
AA Change: Y207*

DomainStartEndE-ValueType
low complexity region 8 16 N/A INTRINSIC
Pfam:DUF3342 147 449 5.1e-107 PFAM
low complexity region 565 576 N/A INTRINSIC
low complexity region 579 596 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000093267
AA Change: Y61*
SMART Domains Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208
AA Change: Y61*

DomainStartEndE-ValueType
Pfam:DUF3342 1 303 7.7e-107 PFAM
low complexity region 419 430 N/A INTRINSIC
low complexity region 433 450 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000109532
AA Change: Y207*
SMART Domains Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208
AA Change: Y207*

DomainStartEndE-ValueType
low complexity region 8 16 N/A INTRINSIC
Pfam:DUF3342 147 449 5.1e-107 PFAM
low complexity region 565 576 N/A INTRINSIC
low complexity region 579 596 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000141353
AA Change: Y61*
SMART Domains Protein: ENSMUSP00000121553
Gene: ENSMUSG00000042208
AA Change: Y61*

DomainStartEndE-ValueType
Pfam:DUF3342 1 189 7.1e-75 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000155903
AA Change: Y207*
SMART Domains Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208
AA Change: Y207*

DomainStartEndE-ValueType
low complexity region 8 16 N/A INTRINSIC
Pfam:DUF3342 147 449 1e-106 PFAM
low complexity region 565 576 N/A INTRINSIC
low complexity region 579 596 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000180260
AA Change: Y207*
SMART Domains Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208
AA Change: Y207*

DomainStartEndE-ValueType
low complexity region 8 16 N/A INTRINSIC
Pfam:DUF3342 147 449 4.5e-107 PFAM
low complexity region 565 576 N/A INTRINSIC
low complexity region 579 596 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A C 11: 109,832,433 (GRCm39) H1231Q possibly damaging Het
Acbd4 T A 11: 102,994,677 (GRCm39) probably null Het
Atp13a4 T A 16: 29,290,771 (GRCm39) Y226F possibly damaging Het
Brd3 A C 2: 27,352,534 (GRCm39) F132C probably damaging Het
Btaf1 A T 19: 36,933,924 (GRCm39) N184I probably benign Het
Ccdc180 A G 4: 45,903,887 (GRCm39) E351G possibly damaging Het
Ccdc185 A T 1: 182,574,918 (GRCm39) Y590* probably null Het
Chi3l1 G A 1: 134,116,980 (GRCm39) E315K probably benign Het
Col6a6 T A 9: 105,586,688 (GRCm39) M1778L probably benign Het
Cyp3a59 A C 5: 146,041,521 (GRCm39) Y355S probably damaging Het
Cyp4a31 A G 4: 115,431,908 (GRCm39) T396A probably benign Het
Dnaaf6rt A T 1: 31,262,296 (GRCm39) I93F probably damaging Het
Dnah6 A T 6: 73,121,948 (GRCm39) I1373N probably damaging Het
Dop1b C A 16: 93,574,274 (GRCm39) H1598N probably benign Het
Erich4 T A 7: 25,314,559 (GRCm39) K118M probably damaging Het
Gkap1 A T 13: 58,403,587 (GRCm39) V179E probably benign Het
Gpr107 T G 2: 31,068,267 (GRCm39) I243S possibly damaging Het
Hs3st6 A G 17: 24,977,504 (GRCm39) N328S probably damaging Het
Kcnq5 A T 1: 21,549,602 (GRCm39) I375N probably damaging Het
Klhdc3 A T 17: 46,987,892 (GRCm39) H266Q probably benign Het
Krt71 C T 15: 101,643,901 (GRCm39) G446R probably damaging Het
L3mbtl2 A G 15: 81,567,169 (GRCm39) T423A probably benign Het
Mical3 T C 6: 120,929,430 (GRCm39) E1812G probably damaging Het
Nlrp1a A G 11: 70,987,948 (GRCm39) I1174T probably benign Het
Npas2 C A 1: 39,373,849 (GRCm39) Q450K possibly damaging Het
Nrp1 T A 8: 129,194,870 (GRCm39) I442N probably damaging Het
Or1j10 T A 2: 36,267,006 (GRCm39) S73T probably damaging Het
Or2y1 A T 11: 49,385,848 (GRCm39) M163L probably benign Het
Palld TGCGTAGCG TGCG 8: 61,966,491 (GRCm39) probably null Het
Pold3 T A 7: 99,768,890 (GRCm39) Q36L possibly damaging Het
Polg T C 7: 79,109,534 (GRCm39) T428A probably benign Het
Rfx7 T A 9: 72,484,329 (GRCm39) V57E possibly damaging Het
Rnf122 T G 8: 31,602,177 (GRCm39) M1R probably null Het
Scn10a T A 9: 119,446,799 (GRCm39) T1410S probably damaging Het
Serpinb13 T A 1: 106,928,466 (GRCm39) V362E probably damaging Het
Setdb1 T C 3: 95,234,922 (GRCm39) N927S probably damaging Het
Sft2d1 A G 17: 8,539,470 (GRCm39) K91R probably benign Het
Shprh A G 10: 11,035,274 (GRCm39) H327R probably damaging Het
Slc9b2 C A 3: 135,042,156 (GRCm39) H478Q probably benign Het
Styxl1 G T 5: 135,782,737 (GRCm39) S117R probably damaging Het
Synj2 T C 17: 6,069,634 (GRCm39) F150L probably damaging Het
Tep1 C A 14: 51,082,970 (GRCm39) V1013L possibly damaging Het
Tgfbi T A 13: 56,778,468 (GRCm39) L413Q probably damaging Het
Tmc5 G A 7: 118,266,093 (GRCm39) R789Q probably damaging Het
Tonsl T A 15: 76,506,762 (GRCm39) I115F possibly damaging Het
Trim38 A G 13: 23,975,117 (GRCm39) Y352C probably damaging Het
Txnl4a T A 18: 80,250,536 (GRCm39) V44D probably benign Het
Vars2 A G 17: 35,972,501 (GRCm39) V39A probably damaging Het
Vmn2r105 A G 17: 20,428,584 (GRCm39) C831R probably damaging Het
Vmn2r26 T A 6: 124,027,667 (GRCm39) I469N probably benign Het
Vmn2r53 T C 7: 12,315,533 (GRCm39) Y762C probably benign Het
Vps13d T A 4: 144,896,918 (GRCm39) Q334L probably benign Het
Zfp277 A T 12: 40,414,164 (GRCm39) I227N probably damaging Het
Other mutations in Sanbr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Sanbr APN 11 23,545,434 (GRCm39) missense probably damaging 1.00
IGL01444:Sanbr APN 11 23,570,225 (GRCm39) splice site probably benign
IGL01522:Sanbr APN 11 23,532,865 (GRCm39) critical splice donor site probably null
IGL01819:Sanbr APN 11 23,534,561 (GRCm39) missense probably benign 0.29
IGL02470:Sanbr APN 11 23,565,222 (GRCm39) missense probably damaging 0.99
IGL03046:Sanbr UTSW 11 23,565,150 (GRCm39) missense possibly damaging 0.77
R0139:Sanbr UTSW 11 23,570,214 (GRCm39) splice site probably benign
R0334:Sanbr UTSW 11 23,567,129 (GRCm39) splice site probably benign
R0646:Sanbr UTSW 11 23,525,491 (GRCm39) missense probably damaging 0.99
R1078:Sanbr UTSW 11 23,561,762 (GRCm39) missense probably benign 0.45
R1471:Sanbr UTSW 11 23,565,222 (GRCm39) missense probably damaging 0.99
R1568:Sanbr UTSW 11 23,539,971 (GRCm39) missense probably damaging 1.00
R2163:Sanbr UTSW 11 23,526,826 (GRCm39) splice site probably benign
R2318:Sanbr UTSW 11 23,538,701 (GRCm39) missense probably damaging 1.00
R2426:Sanbr UTSW 11 23,526,801 (GRCm39) missense probably damaging 1.00
R4373:Sanbr UTSW 11 23,565,265 (GRCm39) splice site probably null
R4688:Sanbr UTSW 11 23,543,449 (GRCm39) missense probably benign
R4816:Sanbr UTSW 11 23,565,243 (GRCm39) missense possibly damaging 0.67
R5046:Sanbr UTSW 11 23,570,354 (GRCm39) missense probably benign 0.23
R5156:Sanbr UTSW 11 23,543,424 (GRCm39) critical splice donor site probably null
R5249:Sanbr UTSW 11 23,525,483 (GRCm39) makesense probably null
R5615:Sanbr UTSW 11 23,556,759 (GRCm39) missense probably damaging 0.96
R6758:Sanbr UTSW 11 23,538,475 (GRCm39) splice site probably null
R6860:Sanbr UTSW 11 23,575,100 (GRCm39) missense probably damaging 1.00
R6910:Sanbr UTSW 11 23,570,447 (GRCm39) missense probably damaging 0.99
R7255:Sanbr UTSW 11 23,570,465 (GRCm39) missense probably benign 0.41
R7286:Sanbr UTSW 11 23,572,479 (GRCm39) missense probably benign 0.07
R7603:Sanbr UTSW 11 23,516,191 (GRCm39) missense probably benign
R7618:Sanbr UTSW 11 23,534,550 (GRCm39) missense possibly damaging 0.91
R7717:Sanbr UTSW 11 23,556,757 (GRCm39) missense probably benign 0.05
R8110:Sanbr UTSW 11 23,526,764 (GRCm39) missense probably benign
R8677:Sanbr UTSW 11 23,545,471 (GRCm39) missense probably benign 0.24
R9165:Sanbr UTSW 11 23,565,244 (GRCm39) missense probably benign 0.00
R9175:Sanbr UTSW 11 23,534,518 (GRCm39) critical splice donor site probably null
R9526:Sanbr UTSW 11 23,559,098 (GRCm39) missense probably damaging 1.00
R9583:Sanbr UTSW 11 23,531,642 (GRCm39) missense possibly damaging 0.69
R9622:Sanbr UTSW 11 23,534,590 (GRCm39) missense probably damaging 0.99
X0026:Sanbr UTSW 11 23,526,767 (GRCm39) missense probably benign 0.00
X0067:Sanbr UTSW 11 23,543,420 (GRCm39) splice site probably null
Z1177:Sanbr UTSW 11 23,574,960 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- TCCAAACAAACCTTGTGAGAATTTTGTTAACC -3'
(R):5'- CCTGGACCCAAACTCTACTGATGCTAAA -3'

Sequencing Primer
(F):5'- TGAGAATTTTGTTAACCTTGTAGGC -3'
(R):5'- TCTTATGAAGGCCAAACATGGTG -3'
Posted On 2014-01-29