Incidental Mutation 'R8677:Sanbr'
ID 661462
Institutional Source Beutler Lab
Gene Symbol Sanbr
Ensembl Gene ENSMUSG00000042208
Gene Name SANT and BTB domain regulator of CSR
Synonyms 0610010F05Rik
MMRRC Submission 068532-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R8677 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 23514961-23583639 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23545471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 474 (D474G)
Ref Sequence ENSEMBL: ENSMUSP00000136118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000123909] [ENSMUST00000155903] [ENSMUST00000180260]
AlphaFold Q68FF0
Predicted Effect probably benign
Transcript: ENSMUST00000043356
AA Change: D474G

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208
AA Change: D474G

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 benign
Transcript: ENSMUST00000093267
AA Change: D328G

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208
AA Change: D328G

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 benign
Transcript: ENSMUST00000109532
AA Change: D474G

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208
AA Change: D474G

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 benign
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 possibly damaging
Transcript: ENSMUST00000155903
AA Change: D474G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208
AA Change: D474G

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 benign
Transcript: ENSMUST00000180260
AA Change: D474G

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208
AA Change: D474G

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd A C 8: 106,427,576 (GRCm39) S25R probably damaging Het
Acly A T 11: 100,410,569 (GRCm39) H136Q probably damaging Het
Adrm1 C T 2: 179,813,832 (GRCm39) T2M probably benign Het
Ankrd12 A T 17: 66,331,209 (GRCm39) L246M probably damaging Het
Bltp2 C T 11: 78,174,982 (GRCm39) R1706C probably damaging Het
Cacnb3 T C 15: 98,539,931 (GRCm39) L258P probably damaging Het
Cd36 C T 5: 18,025,493 (GRCm39) V76M probably damaging Het
Cep120 A G 18: 53,871,633 (GRCm39) F80L possibly damaging Het
Clcn1 A T 6: 42,267,519 (GRCm39) probably null Het
Col17a1 T C 19: 47,640,240 (GRCm39) T1042A probably benign Het
Comp A T 8: 70,832,910 (GRCm39) N623Y probably damaging Het
Ctnnal1 A G 4: 56,813,272 (GRCm39) L653P probably benign Het
Cx3cl1 G T 8: 95,506,443 (GRCm39) R149S probably benign Het
Dbndd2 T A 2: 164,330,522 (GRCm39) N58K probably damaging Het
Dclk1 A G 3: 55,409,840 (GRCm39) I595V probably damaging Het
Dhx15 T C 5: 52,341,886 (GRCm39) D144G probably benign Het
Dlat T C 9: 50,570,007 (GRCm39) E120G probably damaging Het
Fam171a1 T A 2: 3,221,352 (GRCm39) Y273N probably damaging Het
Fndc3b A T 3: 27,511,176 (GRCm39) V778D probably benign Het
Grn T C 11: 102,324,393 (GRCm39) S129P possibly damaging Het
Grxcr1 T C 5: 68,267,757 (GRCm39) F169L possibly damaging Het
Hcn2 A G 10: 79,560,619 (GRCm39) I317V probably benign Het
Heca T C 10: 17,791,424 (GRCm39) N211D probably benign Het
Htr1f T C 16: 64,746,414 (GRCm39) T293A possibly damaging Het
Ifitm10 T A 7: 141,909,749 (GRCm39) I116F probably benign Het
Itprid1 A G 6: 55,849,579 (GRCm39) H37R probably benign Het
Ivl A T 3: 92,479,986 (GRCm39) D26E probably benign Het
Kcnma1 T A 14: 23,436,418 (GRCm39) E761V probably benign Het
Ltbp1 G T 17: 75,655,753 (GRCm39) V923F probably benign Het
Mfsd4b2 A T 10: 39,799,805 (GRCm39) F32L probably benign Het
Micu2 T C 14: 58,161,420 (GRCm39) R301G possibly damaging Het
Miip C T 4: 147,947,503 (GRCm39) C219Y probably damaging Het
Mn1 T A 5: 111,566,885 (GRCm39) L285* probably null Het
Mthfd1l T A 10: 3,998,250 (GRCm39) N664K possibly damaging Het
Mttp A T 3: 137,810,437 (GRCm39) H659Q probably benign Het
Myadml2 G A 11: 120,538,815 (GRCm39) P7S probably benign Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Nlrp4c C T 7: 6,075,644 (GRCm39) T645I probably damaging Het
Notch1 C T 2: 26,359,936 (GRCm39) V1260I probably damaging Het
Numa1 T C 7: 101,650,148 (GRCm39) L1293P probably damaging Het
Or1a1 A T 11: 74,086,415 (GRCm39) I29F probably benign Het
Or56a4 A G 7: 104,806,775 (GRCm39) L38P probably benign Het
Pcdh12 G T 18: 38,415,191 (GRCm39) H645N probably benign Het
Pdcd1 A T 1: 93,968,952 (GRCm39) L122H probably damaging Het
Pknox2 G A 9: 36,821,887 (GRCm39) P246L probably damaging Het
Polr2a A T 11: 69,626,381 (GRCm39) S1590T possibly damaging Het
Ppp1r16b G A 2: 158,593,098 (GRCm39) D226N probably damaging Het
Proser1 A G 3: 53,385,122 (GRCm39) T335A probably benign Het
Ptprc A G 1: 138,011,335 (GRCm39) I598T probably damaging Het
Rasal3 T C 17: 32,615,828 (GRCm39) T337A probably benign Het
Rasgrp3 A T 17: 75,819,055 (GRCm39) T415S probably benign Het
Rbm7 T A 9: 48,401,273 (GRCm39) R152* probably null Het
Sf3b2 C T 19: 5,336,257 (GRCm39) R513H probably damaging Het
Slc22a30 A G 19: 8,364,035 (GRCm39) S214P probably benign Het
Spam1 A G 6: 24,796,984 (GRCm39) T312A probably benign Het
Ssh2 A G 11: 77,346,019 (GRCm39) T1335A possibly damaging Het
Tef T A 15: 81,699,169 (GRCm39) L59Q probably damaging Het
Tmem131l A C 3: 83,836,009 (GRCm39) V700G probably damaging Het
Twsg1 A G 17: 66,233,402 (GRCm39) S183P probably damaging Het
Unc13c T C 9: 73,840,243 (GRCm39) T203A probably benign Het
Uqcc6 G T 10: 82,456,050 (GRCm39) T37K possibly damaging Het
Vmn2r75 G T 7: 85,814,410 (GRCm39) P361Q possibly damaging Het
Xirp2 A T 2: 67,346,978 (GRCm39) N3073I probably damaging Het
Zfp114 A G 7: 23,880,070 (GRCm39) N140D 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
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
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'- CAGTCCAGCTCTGAAATTGTAAC -3'
(R):5'- TACTATTCCCTGAGCTTTGGTG -3'

Sequencing Primer
(F):5'- TTGTAACTATCTGAGGACTGCC -3'
(R):5'- ATTCCCTGAGCTTTGGTGTGTATATG -3'
Posted On 2021-03-08