Incidental Mutation 'R6758:Sanbr'
ID 531109
Institutional Source Beutler Lab
Gene Symbol Sanbr
Ensembl Gene ENSMUSG00000042208
Gene Name SANT and BTB domain regulator of CSR
Synonyms 0610010F05Rik
MMRRC Submission 044874-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R6758 (G1)
Quality Score 97.0078
Status Not validated
Chromosome 11
Chromosomal Location 23514961-23583639 bp(-) (GRCm39)
Type of Mutation splice site (160 bp from exon)
DNA Base Change (assembly) T to C at 23538475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000123909] [ENSMUST00000155903] [ENSMUST00000180260]
AlphaFold Q68FF0
Predicted Effect probably null
Transcript: ENSMUST00000043356
SMART Domains Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208

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
SMART Domains Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208

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
SMART Domains Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208

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: ENSMUST00000123909
SMART Domains Protein: ENSMUSP00000117103
Gene: ENSMUSG00000042208

DomainStartEndE-ValueType
low complexity region 71 82 N/A INTRINSIC
low complexity region 85 102 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155903
SMART Domains Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208

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
SMART Domains Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 A T 5: 90,411,172 (GRCm39) D1374E probably damaging Het
Cd96 C A 16: 45,938,367 (GRCm39) V33L possibly damaging Het
Drd1 T C 13: 54,207,308 (GRCm39) E295G probably benign Het
Fzd8 T A 18: 9,213,238 (GRCm39) C107S possibly damaging Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Gm11595 C A 11: 99,663,366 (GRCm39) V105L unknown Het
Gm11595 A T 11: 99,663,367 (GRCm39) C104* probably null Het
Igsf3 T C 3: 101,332,814 (GRCm39) Y31H probably damaging Het
Ikzf2 A T 1: 69,578,059 (GRCm39) H483Q probably damaging Het
Itgbl1 A G 14: 124,094,901 (GRCm39) K309E probably benign Het
Myt1l T G 12: 29,892,599 (GRCm39) Y79D possibly damaging Het
Nid2 T A 14: 19,852,551 (GRCm39) S1086R probably damaging Het
Or1o1 A G 17: 37,716,586 (GRCm39) D49G probably damaging Het
Or5h24 T C 16: 58,919,328 (GRCm39) E9G probably damaging Het
Or6c65 T C 10: 129,603,920 (GRCm39) I185T probably damaging Het
Rorc A G 3: 94,294,825 (GRCm39) N51S possibly damaging Het
Simc1 C T 13: 54,673,361 (GRCm39) P570S possibly damaging Het
Smn1 T A 13: 100,268,946 (GRCm39) M264K possibly damaging Het
Tiam2 A G 17: 3,568,678 (GRCm39) D1608G probably benign Het
Tll1 C A 8: 64,494,439 (GRCm39) probably null Het
Trim15 A G 17: 37,173,233 (GRCm39) L284P probably benign 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
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
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'- TGTACACACAGAGCACCAGG -3'
(R):5'- TTCTCAGAAGAGGAAGAGTATACCACG -3'

Sequencing Primer
(F):5'- CACACAGAGCACCAGGGTTTATTTTC -3'
(R):5'- TCTGAGGTCACTGAAGATGAAGTC -3'
Posted On 2018-08-01