Incidental Mutation 'R8110:Sanbr'
ID 630819
Institutional Source Beutler Lab
Gene Symbol Sanbr
Ensembl Gene ENSMUSG00000042208
Gene Name SANT and BTB domain regulator of CSR
Synonyms 0610010F05Rik
MMRRC Submission 067539-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R8110 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 23514961-23583639 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 23526764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 696 (T696N)
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: T696N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208
AA Change: T696N

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: T550N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208
AA Change: T550N

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: T696N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208
AA Change: T696N

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
AA Change: T202N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117103
Gene: ENSMUSG00000042208
AA Change: T202N

DomainStartEndE-ValueType
low complexity region 71 82 N/A INTRINSIC
low complexity region 85 102 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155903
AA Change: T696N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208
AA Change: T696N

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: T696N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208
AA Change: T696N

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: 98.6%
  • 20x: 93.1%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd45 T C 1: 160,978,889 (GRCm39) probably null Het
Appl1 C A 14: 26,649,751 (GRCm39) G592* probably null Het
Arfgef2 T A 2: 166,720,464 (GRCm39) M1501K probably benign Het
Calcrl C T 2: 84,169,683 (GRCm39) A333T probably damaging Het
Cd200r3 T A 16: 44,771,835 (GRCm39) I33N probably benign Het
Ceacam15 A G 7: 16,407,334 (GRCm39) L61P probably benign Het
Cfap69 T A 5: 5,632,515 (GRCm39) H827L possibly damaging Het
Csmd3 T A 15: 47,507,666 (GRCm39) E2780V probably damaging Het
Cyp2u1 G A 3: 131,087,303 (GRCm39) T426I probably damaging Het
Eefsec A C 6: 88,353,312 (GRCm39) I119S probably damaging Het
Fem1b T C 9: 62,703,550 (GRCm39) N570S probably damaging Het
Fmo9 A G 1: 166,491,095 (GRCm39) M461T probably benign Het
Fryl A G 5: 73,290,620 (GRCm39) Y95H probably benign Het
Fsip2 T C 2: 82,789,017 (GRCm39) I346T probably benign Het
Fto T C 8: 92,211,818 (GRCm39) F381S probably damaging Het
Gabbr1 G C 17: 37,359,475 (GRCm39) S150T probably benign Het
Galnt9 G T 5: 110,763,339 (GRCm39) W448L probably damaging Het
Gcnt2 G T 13: 41,071,198 (GRCm39) probably benign Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Hectd4 A G 5: 121,471,012 (GRCm39) Y2633C possibly damaging Het
Hsd11b2 A G 8: 106,249,266 (GRCm39) I214V probably damaging Het
Hspa12a T A 19: 58,809,445 (GRCm39) E217V possibly damaging Het
Itih2 A G 2: 10,101,948 (GRCm39) F845L probably damaging Het
Kcnn3 T A 3: 89,568,540 (GRCm39) L606H probably damaging Het
Krt6b G A 15: 101,588,577 (GRCm39) R28C probably damaging Het
Lama2 T A 10: 26,866,866 (GRCm39) D2876V probably damaging Het
Lmbrd2 T C 15: 9,175,279 (GRCm39) S397P probably damaging Het
Lmf2 C T 15: 89,236,561 (GRCm39) probably null Het
Lrp2 A G 2: 69,336,797 (GRCm39) I1325T probably benign Het
Ltbp2 A T 12: 84,850,676 (GRCm39) C879* probably null Het
Map3k1 A G 13: 111,891,847 (GRCm39) V1136A probably damaging Het
Mettl3 G T 14: 52,537,709 (GRCm39) H84N probably benign Het
Mia2 A G 12: 59,155,873 (GRCm39) probably null Het
Mlip G T 9: 77,146,861 (GRCm39) T92K probably damaging Het
Nalcn T A 14: 123,702,113 (GRCm39) Y466F probably benign Het
Nav2 T A 7: 49,201,698 (GRCm39) L235* probably null Het
Nbn T C 4: 15,981,588 (GRCm39) V560A probably benign Het
Ncln A T 10: 81,328,987 (GRCm39) Y144N possibly damaging Het
Nfe2l2 A C 2: 75,509,765 (GRCm39) D18E probably benign Het
Or10aa3 G A 1: 173,878,091 (GRCm39) A51T probably benign Het
Or12d2 A G 17: 37,624,604 (GRCm39) F224L probably benign Het
Or1ak2 T C 2: 36,827,721 (GRCm39) C197R possibly damaging Het
Or5w11 T C 2: 87,458,951 (GRCm39) I48T possibly damaging Het
Otop3 A T 11: 115,230,221 (GRCm39) M33L probably benign Het
Pate7 T C 9: 35,689,329 (GRCm39) *84W probably null Het
Pdzd2 G A 15: 12,373,592 (GRCm39) S2181L probably benign Het
Phf14 T C 6: 11,953,422 (GRCm39) I387T possibly damaging Het
Prb1c C T 6: 132,338,531 (GRCm39) G229D unknown Het
Prdm9 T A 17: 15,774,960 (GRCm39) N318Y probably damaging Het
Proca1 A G 11: 78,095,737 (GRCm39) D123G probably damaging Het
Prune2 G A 19: 17,098,083 (GRCm39) G1196S probably benign Het
Psd3 T A 8: 68,573,708 (GRCm39) S158C probably damaging Het
Rps18 A G 17: 34,174,110 (GRCm39) V15A probably benign Het
Sharpin C A 15: 76,231,965 (GRCm39) R271L possibly damaging Het
Smad5 C A 13: 56,871,701 (GRCm39) Q99K probably damaging Het
Sox5 T C 6: 144,062,200 (GRCm39) M151V possibly damaging Het
Sphkap A T 1: 83,256,492 (GRCm39) F419Y possibly damaging Het
Tbx20 T A 9: 24,636,821 (GRCm39) Y422F probably damaging Het
Tcirg1 A C 19: 3,949,099 (GRCm39) F397V probably damaging Het
Tex36 G A 7: 133,197,012 (GRCm39) S35F possibly damaging Het
Tsen54 G T 11: 115,705,760 (GRCm39) A26S unknown Het
Usp50 T A 2: 126,622,250 (GRCm39) probably null Het
Vmn2r5 A T 3: 64,398,709 (GRCm39) F757I probably benign Het
Zbbx T C 3: 75,062,749 (GRCm39) T3A possibly damaging Het
Zfp28 T A 7: 6,392,828 (GRCm39) M168K probably benign Het
Zfp568 G T 7: 29,722,551 (GRCm39) G499W probably damaging Het
Zfp7 C G 15: 76,775,131 (GRCm39) P391R possibly 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
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
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'- ATGAAAGTTTGTGCCCATTACC -3'
(R):5'- TAGATGGTTGGCCTCAGACAG -3'

Sequencing Primer
(F):5'- TTGTGCCCATTACCTTTTAAAAATG -3'
(R):5'- TTGGCCTCAGACAGACTGG -3'
Posted On 2020-06-30