Incidental Mutation 'R2318:Sanbr'
ID 245564
Institutional Source Beutler Lab
Gene Symbol Sanbr
Ensembl Gene ENSMUSG00000042208
Gene Name SANT and BTB domain regulator of CSR
Synonyms 0610010F05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R2318 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 23514961-23583639 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23538701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 66 (Y66H)
Ref Sequence ENSEMBL: ENSMUSP00000117103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000123909] [ENSMUST00000155903] [ENSMUST00000180260]
AlphaFold Q68FF0
Predicted Effect probably damaging
Transcript: ENSMUST00000043356
AA Change: Y560H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208
AA Change: Y560H

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 damaging
Transcript: ENSMUST00000093267
AA Change: Y414H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208
AA Change: Y414H

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 damaging
Transcript: ENSMUST00000109532
AA Change: Y560H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208
AA Change: Y560H

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 damaging
Transcript: ENSMUST00000123909
AA Change: Y66H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117103
Gene: ENSMUSG00000042208
AA Change: Y66H

DomainStartEndE-ValueType
low complexity region 71 82 N/A INTRINSIC
low complexity region 85 102 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000155903
AA Change: Y560H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208
AA Change: Y560H

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 damaging
Transcript: ENSMUST00000180260
AA Change: Y560H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208
AA Change: Y560H

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10 G A 8: 14,978,855 (GRCm39) A41T probably damaging Het
Car15 T C 16: 17,654,463 (GRCm39) M158V probably benign Het
Cinp C A 12: 110,840,443 (GRCm39) W113L probably damaging Het
Col4a3 T A 1: 82,626,290 (GRCm39) probably null Het
Csnk2b T C 17: 35,337,037 (GRCm39) Y101C possibly damaging Het
Ddb1 C T 19: 10,603,992 (GRCm39) R900C probably damaging Het
Eif4g2 A G 7: 110,673,065 (GRCm39) F876L possibly damaging Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
H4c4 A G 13: 23,765,739 (GRCm39) Y52C probably damaging Het
Mast1 T C 8: 85,647,754 (GRCm39) D540G probably damaging Het
Mis18bp1 C T 12: 65,187,617 (GRCm39) V829M possibly damaging Het
Mtus2 C T 5: 148,043,892 (GRCm39) R827* probably null Het
Nlrp9a G A 7: 26,273,277 (GRCm39) V860M probably damaging Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prr14l T C 5: 32,987,422 (GRCm39) E691G probably benign Het
Rad1 A G 15: 10,490,495 (GRCm39) N154S probably benign Het
Slc10a4-ps T C 5: 72,743,638 (GRCm39) T27A probably benign Het
Smc2 T C 4: 52,446,030 (GRCm39) S133P probably damaging Het
Sstr1 T A 12: 58,259,562 (GRCm39) S62T possibly damaging Het
Thsd7a T C 6: 12,405,146 (GRCm39) Y766C probably damaging Het
Timm44 A G 8: 4,318,307 (GRCm39) V129A probably benign Het
Tinag T C 9: 76,952,693 (GRCm39) Y97C probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ubap2 A G 4: 41,251,542 (GRCm39) V30A 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
R1263:Sanbr UTSW 11 23,570,278 (GRCm39) nonsense probably null
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
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'- GAGCACCAGGGTTTATTTTCTC -3'
(R):5'- AGCCTCAAGTTTACCATACTTCTG -3'

Sequencing Primer
(F):5'- GCAAGCACCTTTACCTGATG -3'
(R):5'- ATGTGGATGCTGGCAATCCAC -3'
Posted On 2014-10-30