Incidental Mutation 'R7618:Sanbr'
ID 589008
Institutional Source Beutler Lab
Gene Symbol Sanbr
Ensembl Gene ENSMUSG00000042208
Gene Name SANT and BTB domain regulator of CSR
Synonyms 0610010F05Rik
MMRRC Submission 045685-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R7618 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 23514961-23583639 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 23534550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 602 (C602W)
Ref Sequence ENSEMBL: ENSMUSP00000136118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000123909] [ENSMUST00000155903] [ENSMUST00000180260]
AlphaFold Q68FF0
Predicted Effect possibly damaging
Transcript: ENSMUST00000043356
AA Change: C602W

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208
AA Change: C602W

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 possibly damaging
Transcript: ENSMUST00000093267
AA Change: C456W

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208
AA Change: C456W

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 possibly damaging
Transcript: ENSMUST00000109532
AA Change: C602W

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208
AA Change: C602W

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 possibly damaging
Transcript: ENSMUST00000123909
AA Change: C108W

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117103
Gene: ENSMUSG00000042208
AA Change: C108W

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: C602W

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208
AA Change: C602W

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 possibly damaging
Transcript: ENSMUST00000180260
AA Change: C602W

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208
AA Change: C602W

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: 99.5%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T C 14: 78,736,300 (GRCm39) D1830G Het
Alms1 A G 6: 85,655,399 (GRCm39) N2846S probably benign Het
Amt A C 9: 108,177,077 (GRCm39) E228D probably damaging Het
Ankar T C 1: 72,714,925 (GRCm39) M618V probably benign Het
Ankrd60 T C 2: 173,412,834 (GRCm39) probably null Het
Aoc1 A G 6: 48,883,320 (GRCm39) T399A possibly damaging Het
Aqp11 T A 7: 97,386,873 (GRCm39) I108F probably benign Het
Arfgef3 G T 10: 18,522,029 (GRCm39) Q666K probably damaging Het
Bin2 T A 15: 100,542,894 (GRCm39) R430W probably damaging Het
Brme1 A G 8: 84,893,499 (GRCm39) Q222R possibly damaging Het
Cdh18 T A 15: 23,367,056 (GRCm39) V254D probably damaging Het
Cfap46 A T 7: 139,183,155 (GRCm39) S159R Het
Clnk A T 5: 38,893,698 (GRCm39) S220T probably benign Het
Col19a1 G T 1: 24,361,165 (GRCm39) H608Q probably benign Het
Cplx1 C T 5: 108,673,395 (GRCm39) E24K possibly damaging Het
Dnah3 A T 7: 119,577,601 (GRCm39) L2031Q probably damaging Het
Dok1 T C 6: 83,009,872 (GRCm39) E79G probably benign Het
Eif4g3 T C 4: 137,898,429 (GRCm39) S902P probably damaging Het
Emilin3 T A 2: 160,751,199 (GRCm39) E183D probably benign Het
Fam124b G A 1: 80,191,554 (GRCm39) probably benign Het
Gm9195 T C 14: 72,690,275 (GRCm39) Y1816C probably damaging Het
Ighv5-9-1 T A 12: 113,699,819 (GRCm39) I98F probably damaging Het
Il31ra G A 13: 112,688,514 (GRCm39) P21L possibly damaging Het
Kat6a A G 8: 23,352,578 (GRCm39) I121V possibly damaging Het
Kif11 T C 19: 37,400,008 (GRCm39) W832R probably benign Het
Klhl9 T C 4: 88,638,772 (GRCm39) T490A possibly damaging Het
Lars1 G T 18: 42,377,956 (GRCm39) A153E probably benign Het
Muc5b A T 7: 141,421,334 (GRCm39) I4275L probably benign Het
Myo10 T A 15: 25,726,561 (GRCm39) C294* probably null Het
Nceh1 T A 3: 27,237,366 (GRCm39) probably null Het
Ncf1 T A 5: 134,256,121 (GRCm39) T93S probably benign Het
Nfatc2 G A 2: 168,376,919 (GRCm39) R545C probably damaging Het
Nos1 C T 5: 118,042,009 (GRCm39) P545S probably benign Het
Ogfod3 C A 11: 121,093,804 (GRCm39) V69F probably damaging Het
Or4a27 A T 2: 88,559,180 (GRCm39) Y254* probably null Het
Phf12 A G 11: 77,916,960 (GRCm39) N272S unknown Het
Prkcz T A 4: 155,346,939 (GRCm39) I581F probably damaging Het
Rasgrf2 T C 13: 92,136,085 (GRCm39) H8R Het
Rb1cc1 T A 1: 6,335,782 (GRCm39) probably null Het
Rcor2 T A 19: 7,248,411 (GRCm39) M186K possibly damaging Het
Rnf111 C A 9: 70,410,614 (GRCm39) probably benign Het
Serinc3 A T 2: 163,472,889 (GRCm39) F247Y possibly damaging Het
Serpina1c T A 12: 103,865,029 (GRCm39) I206F probably damaging Het
Slc25a10 G A 11: 120,387,797 (GRCm39) probably null Het
Syne2 T G 12: 75,992,108 (GRCm39) H1993Q probably benign Het
Tap1 A G 17: 34,407,212 (GRCm39) Y120C possibly damaging Het
Tex30 A T 1: 44,127,410 (GRCm39) probably null Het
Ube2ql1 G T 13: 69,887,066 (GRCm39) Q132K probably benign Het
Unc13d T C 11: 115,957,547 (GRCm39) N803D probably damaging Het
Vcan G A 13: 89,840,342 (GRCm39) S1734F probably damaging Het
Wdfy4 T C 14: 32,707,696 (GRCm39) Y2630C Het
Wdr93 A G 7: 79,435,474 (GRCm39) T668A 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
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'- TCCAAAGGTCCCACATCTTC -3'
(R):5'- ATTAGAACAAGCCCTGTGCAG -3'

Sequencing Primer
(F):5'- AGGTCCCACATCTTCCAGAGTC -3'
(R):5'- GTGCAGCAGCTTCATTCTGAC -3'
Posted On 2019-10-24