Incidental Mutation 'R5046:Sanbr'
ID 394384
Institutional Source Beutler Lab
Gene Symbol Sanbr
Ensembl Gene ENSMUSG00000042208
Gene Name SANT and BTB domain regulator of CSR
Synonyms 0610010F05Rik
MMRRC Submission 042636-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R5046 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 23514961-23583639 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 23570354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 182 (M182R)
Ref Sequence ENSEMBL: ENSMUSP00000137799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000141353] [ENSMUST00000155903] [ENSMUST00000180260]
AlphaFold Q68FF0
Predicted Effect probably benign
Transcript: ENSMUST00000043356
AA Change: M182R

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208
AA Change: M182R

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: M36R

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208
AA Change: M36R

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: M182R

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208
AA Change: M182R

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: ENSMUST00000141353
AA Change: M36R

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000121553
Gene: ENSMUSG00000042208
AA Change: M36R

DomainStartEndE-ValueType
Pfam:DUF3342 1 189 7.1e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155903
AA Change: M182R

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208
AA Change: M182R

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: M182R

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208
AA Change: M182R

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
Meta Mutation Damage Score 0.0617 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C A 7: 119,302,597 (GRCm39) H241N probably damaging Het
Arhgap32 G A 9: 32,168,095 (GRCm39) A693T probably damaging Het
B4galnt3 G T 6: 120,191,759 (GRCm39) A658D probably damaging Het
Car12 G A 9: 66,653,895 (GRCm39) E84K probably benign Het
Crocc2 T A 1: 93,133,624 (GRCm39) S969T probably damaging Het
Crym A G 7: 119,794,667 (GRCm39) V184A possibly damaging Het
Cryzl2 T C 1: 157,292,583 (GRCm39) C122R probably damaging Het
Defb30 T C 14: 63,273,463 (GRCm39) E49G probably benign Het
Dnah3 A G 7: 119,550,803 (GRCm39) L3161P probably damaging Het
Dnajc5g A G 5: 31,267,036 (GRCm39) N104S probably benign Het
Fcgr1 T G 3: 96,194,302 (GRCm39) K195T probably damaging Het
Gal C T 19: 3,461,167 (GRCm39) R89H probably damaging Het
Gcfc2 C T 6: 81,925,316 (GRCm39) A577V probably benign Het
Gm5116 A C 7: 32,195,379 (GRCm39) noncoding transcript Het
Golga3 A T 5: 110,340,806 (GRCm39) Q540L probably damaging Het
Hectd1 T C 12: 51,797,171 (GRCm39) E2184G probably damaging Het
Hspa12a T C 19: 58,787,977 (GRCm39) D615G probably damaging Het
Igkv14-130 A T 6: 67,768,465 (GRCm39) Y107F probably damaging Het
Ldlr T A 9: 21,657,203 (GRCm39) probably null Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lrrc37a A T 11: 103,389,066 (GRCm39) S2120T unknown Het
Mtfmt G T 9: 65,346,897 (GRCm39) V164F probably damaging Het
Nampt T C 12: 32,883,037 (GRCm39) V74A probably damaging Het
Ndufc2 G T 7: 97,056,871 (GRCm39) R120L probably damaging Het
Neo1 A T 9: 58,801,194 (GRCm39) V1156D possibly damaging Het
Nlrp1b G A 11: 71,050,898 (GRCm39) P1065S possibly damaging Het
Nop9 A G 14: 55,983,397 (GRCm39) H56R possibly damaging Het
Or4k41 A T 2: 111,279,934 (GRCm39) T150S probably benign Het
Or6c75 A T 10: 129,337,178 (GRCm39) M142L possibly damaging Het
Pign A T 1: 105,449,798 (GRCm39) N909K possibly damaging Het
Prex1 A G 2: 166,414,883 (GRCm39) V304A probably benign Het
Racgap1 G A 15: 99,526,643 (GRCm39) R307W probably damaging Het
Rap1gds1 C A 3: 138,661,181 (GRCm39) E399* probably null Het
Rwdd4a G A 8: 47,995,837 (GRCm39) probably null Het
Scp2 T C 4: 107,928,488 (GRCm39) T401A probably benign Het
Sdha A G 13: 74,475,452 (GRCm39) F526S probably damaging Het
Shroom1 T A 11: 53,354,872 (GRCm39) L264Q probably benign Het
Sorl1 T C 9: 41,907,590 (GRCm39) T1466A probably benign Het
Trpm2 C T 10: 77,801,852 (GRCm39) C71Y probably damaging Het
Ugt2b34 G A 5: 87,052,246 (GRCm39) S250L probably benign Het
Vmn2r88 A G 14: 51,650,638 (GRCm39) D117G probably benign Het
Wdr73 A T 7: 80,542,173 (GRCm39) 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
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'- AGTTTAGGCCTGAAGCAGCC -3'
(R):5'- TGTGGTCCAACTCTTCAAATCC -3'

Sequencing Primer
(F):5'- TGAAGCAGCCACCAGATG -3'
(R):5'- GTCTAACCTCCACTAAATGTCAGTG -3'
Posted On 2016-06-15