Incidental Mutation 'R0449:Dtnb'
ID 39545
Institutional Source Beutler Lab
Gene Symbol Dtnb
Ensembl Gene ENSMUSG00000071454
Gene Name dystrobrevin, beta
Synonyms
MMRRC Submission 038649-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0449 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 3622381-3831796 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 3641971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 45 (Q45*)
Ref Sequence ENSEMBL: ENSMUSP00000134146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077930] [ENSMUST00000101637] [ENSMUST00000164578] [ENSMUST00000164607] [ENSMUST00000173199] [ENSMUST00000174109] [ENSMUST00000174290] [ENSMUST00000174547] [ENSMUST00000174639] [ENSMUST00000173736] [ENSMUST00000174663] [ENSMUST00000173240] [ENSMUST00000173483] [ENSMUST00000174479] [ENSMUST00000173998]
AlphaFold O70585
Predicted Effect probably null
Transcript: ENSMUST00000077930
AA Change: Q45*
SMART Domains Protein: ENSMUSP00000077085
Gene: ENSMUSG00000071454
AA Change: Q45*

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 140 1.7e-40 PFAM
Pfam:EF-hand_3 144 232 1.1e-38 PFAM
ZnF_ZZ 237 282 3.29e-15 SMART
low complexity region 403 416 N/A INTRINSIC
coiled coil region 429 519 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000101637
AA Change: Q45*
SMART Domains Protein: ENSMUSP00000099161
Gene: ENSMUSG00000071454
AA Change: Q45*

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 140 1.8e-40 PFAM
Pfam:EF-hand_3 144 232 1.1e-38 PFAM
ZnF_ZZ 237 282 3.29e-15 SMART
SCOP:d1eq1a_ 364 524 8e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000164578
AA Change: Q45*
SMART Domains Protein: ENSMUSP00000126194
Gene: ENSMUSG00000071454
AA Change: Q45*

DomainStartEndE-ValueType
Pfam:EF-hand_2 16 140 7.9e-38 PFAM
Pfam:EF-hand_3 144 232 2.1e-33 PFAM
ZnF_ZZ 237 282 3.29e-15 SMART
low complexity region 403 416 N/A INTRINSIC
coiled coil region 429 519 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000164607
AA Change: Q45*
SMART Domains Protein: ENSMUSP00000128230
Gene: ENSMUSG00000071454
AA Change: Q45*

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 140 2.1e-40 PFAM
Pfam:EF-hand_3 144 232 1.5e-38 PFAM
ZnF_ZZ 237 282 3.29e-15 SMART
low complexity region 403 416 N/A INTRINSIC
coiled coil region 429 519 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168806
Predicted Effect probably null
Transcript: ENSMUST00000173199
AA Change: Q45*
SMART Domains Protein: ENSMUSP00000134392
Gene: ENSMUSG00000071454
AA Change: Q45*

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 140 2e-40 PFAM
Pfam:EF-hand_3 144 232 1.6e-38 PFAM
ZnF_ZZ 237 282 3.29e-15 SMART
SCOP:d1eq1a_ 364 524 9e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000174109
AA Change: Q45*
SMART Domains Protein: ENSMUSP00000134151
Gene: ENSMUSG00000071454
AA Change: Q45*

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 132 1.1e-34 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000174290
AA Change: Q45*
SMART Domains Protein: ENSMUSP00000133697
Gene: ENSMUSG00000071454
AA Change: Q45*

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 140 6e-42 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000174547
AA Change: Q45*
SMART Domains Protein: ENSMUSP00000133927
Gene: ENSMUSG00000071454
AA Change: Q45*

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 140 2e-40 PFAM
Pfam:EF-hand_3 144 232 1.4e-38 PFAM
ZnF_ZZ 237 282 3.29e-15 SMART
SCOP:d1eq1a_ 364 524 5e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000174639
AA Change: Q45*
SMART Domains Protein: ENSMUSP00000133601
Gene: ENSMUSG00000071454
AA Change: Q45*

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 123 6.9e-35 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000173736
AA Change: Q45*
SMART Domains Protein: ENSMUSP00000134519
Gene: ENSMUSG00000071454
AA Change: Q45*

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 140 1.8e-40 PFAM
Pfam:EF-hand_3 144 232 1.3e-38 PFAM
ZnF_ZZ 237 282 3.29e-15 SMART
low complexity region 373 386 N/A INTRINSIC
coiled coil region 399 489 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000174663
AA Change: Q45*
SMART Domains Protein: ENSMUSP00000134146
Gene: ENSMUSG00000071454
AA Change: Q45*

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 140 2.2e-40 PFAM
Pfam:EF-hand_3 144 232 1.5e-38 PFAM
ZnF_ZZ 237 282 3.29e-15 SMART
SCOP:d1eq1a_ 364 524 4e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000173240
AA Change: Q45*
SMART Domains Protein: ENSMUSP00000133722
Gene: ENSMUSG00000071454
AA Change: Q45*

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 140 1.8e-40 PFAM
Pfam:EF-hand_3 144 232 1.3e-38 PFAM
ZnF_ZZ 237 282 3.29e-15 SMART
low complexity region 373 386 N/A INTRINSIC
SCOP:d1eq1a_ 404 494 8e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000173483
AA Change: Q45*
SMART Domains Protein: ENSMUSP00000134390
Gene: ENSMUSG00000071454
AA Change: Q45*

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 61 7.9e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000174479
AA Change: Q45*
SMART Domains Protein: ENSMUSP00000133702
Gene: ENSMUSG00000071454
AA Change: Q45*

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 140 3.9e-41 PFAM
Pfam:EF-hand_3 144 232 3.5e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173524
Predicted Effect probably benign
Transcript: ENSMUST00000173998
SMART Domains Protein: ENSMUSP00000133774
Gene: ENSMUSG00000071454

DomainStartEndE-ValueType
Pfam:EF-hand_2 11 90 3.3e-15 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and show no obvious histological or functional abnormalities in liver and kidney. Mice homozygous for a gene trapped allele are viable, fertile and overtly normal with no significant synaptic or behavioral defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,989,885 (GRCm39) R813* probably null Het
Accsl T A 2: 93,696,419 (GRCm39) I60F probably benign Het
Adam29 C T 8: 56,325,716 (GRCm39) G246D probably benign Het
Ankrd13c A G 3: 157,697,351 (GRCm39) I319V probably benign Het
Bag6 T G 17: 35,360,442 (GRCm39) V327G probably damaging Het
Barhl1 C T 2: 28,805,304 (GRCm39) A130T probably benign Het
Bend4 T C 5: 67,555,583 (GRCm39) D541G probably damaging Het
Birc6 A C 17: 74,999,290 (GRCm39) T4673P probably damaging Het
Ccdc81 T C 7: 89,539,679 (GRCm39) R186G probably damaging Het
Cdyl2 A G 8: 117,309,931 (GRCm39) F342L probably damaging Het
Chd3 C A 11: 69,248,367 (GRCm39) V748L probably damaging Het
CN725425 G T 15: 91,123,147 (GRCm39) R72I possibly damaging Het
Col22a1 A G 15: 71,834,520 (GRCm39) probably null Het
Cops3 A G 11: 59,709,243 (GRCm39) probably null Het
Ctnnd1 G T 2: 84,433,606 (GRCm39) Q940K possibly damaging Het
Efr3a T A 15: 65,714,553 (GRCm39) I280K probably damaging Het
Eml6 A C 11: 29,843,213 (GRCm39) V167G probably benign Het
Fam83c T A 2: 155,672,215 (GRCm39) M407L probably benign Het
Fasn T C 11: 120,701,894 (GRCm39) T1862A probably benign Het
Fbxl6 A G 15: 76,420,155 (GRCm39) I486T probably damaging Het
Gpr182 A G 10: 127,586,565 (GRCm39) Y129H probably damaging Het
Gpr75 A G 11: 30,842,456 (GRCm39) S454G probably damaging Het
Hectd4 G A 5: 121,502,653 (GRCm39) probably null Het
Hsf4 A G 8: 106,002,222 (GRCm39) T411A probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il4 A T 11: 53,509,432 (GRCm39) M1K probably null Het
Ints11 G T 4: 155,972,405 (GRCm39) R463L probably benign Het
Ints4 G A 7: 97,178,430 (GRCm39) E677K probably damaging Het
Klk1b11 G A 7: 43,647,216 (GRCm39) C50Y probably damaging Het
Krt14 C A 11: 100,098,221 (GRCm39) G21C unknown Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
L3mbtl2 C T 15: 81,552,942 (GRCm39) A125V probably damaging Het
Lama3 A G 18: 12,633,569 (GRCm39) probably null Het
Lrrk2 T C 15: 91,634,478 (GRCm39) L1414P probably damaging Het
Matn2 T C 15: 34,428,687 (GRCm39) S684P probably damaging Het
Mga T A 2: 119,771,862 (GRCm39) V1574D probably damaging Het
Mia2 T C 12: 59,219,380 (GRCm39) probably null Het
Mrpl21 T A 19: 3,342,459 (GRCm39) probably benign Het
Msh5 T A 17: 35,260,458 (GRCm39) Q266L probably benign Het
Mybpc1 C A 10: 88,376,822 (GRCm39) C758F probably damaging Het
Myo15a G A 11: 60,400,422 (GRCm39) A2932T possibly damaging Het
Nbas T A 12: 13,569,109 (GRCm39) I2021K probably benign Het
Neurl4 T C 11: 69,796,393 (GRCm39) S424P probably damaging Het
Or10j5 T A 1: 172,784,965 (GRCm39) V201E probably damaging Het
Or2w3 A C 11: 58,556,789 (GRCm39) I135L probably benign Het
Or6c6 A G 10: 129,187,103 (GRCm39) M224V probably benign Het
Or7g17 T C 9: 18,767,945 (GRCm39) M8T probably benign Het
Or7g32 T A 9: 19,389,388 (GRCm39) I53F possibly damaging Het
Phlpp1 C T 1: 106,278,308 (GRCm39) R907W probably damaging Het
Pigg T C 5: 108,484,277 (GRCm39) V508A probably benign Het
Pkhd1l1 T G 15: 44,364,915 (GRCm39) Y685D probably damaging Het
Polr3a A T 14: 24,534,534 (GRCm39) I34N probably damaging Het
Pramel17 T C 4: 101,694,158 (GRCm39) S242G probably benign Het
Prex1 A G 2: 166,411,297 (GRCm39) V1434A probably benign Het
Ptprh T A 7: 4,601,005 (GRCm39) D124V probably damaging Het
Rad54b T A 4: 11,606,131 (GRCm39) I513N probably benign Het
Rbm12b1 A G 4: 12,145,507 (GRCm39) N493S probably benign Het
Rfx7 A T 9: 72,517,586 (GRCm39) probably null Het
Serpini1 A G 3: 75,520,648 (GRCm39) K82E probably benign Het
Slc27a6 T G 18: 58,742,237 (GRCm39) probably null Het
Slc35f2 G T 9: 53,724,201 (GRCm39) L358F probably damaging Het
Slc45a1 A C 4: 150,727,762 (GRCm39) I158M probably damaging Het
Slurp2 G A 15: 74,614,955 (GRCm39) P62L probably damaging Het
Sspo C T 6: 48,443,674 (GRCm39) H1949Y probably damaging Het
Tiam1 A T 16: 89,634,715 (GRCm39) V865E possibly damaging Het
Tlr4 A C 4: 66,757,857 (GRCm39) I217L probably damaging Het
Top1 C T 2: 160,554,628 (GRCm39) R460* probably null Het
Trpm3 T A 19: 22,965,418 (GRCm39) S1638T probably benign Het
Tubgcp5 C T 7: 55,473,315 (GRCm39) R798C probably benign Het
Vars1 T G 17: 35,231,703 (GRCm39) probably null Het
Xylt2 A G 11: 94,557,159 (GRCm39) Y111H probably benign Het
Zbed5 G A 5: 129,930,567 (GRCm39) G172D probably damaging Het
Zfp53 C T 17: 21,729,095 (GRCm39) T376I probably benign Het
Zfp937 G T 2: 150,081,466 (GRCm39) V499L probably benign Het
Zyx T A 6: 42,328,247 (GRCm39) L152Q probably damaging Het
Other mutations in Dtnb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01866:Dtnb APN 12 3,782,626 (GRCm39) missense probably benign 0.00
IGL02269:Dtnb APN 12 3,646,691 (GRCm39) missense probably damaging 1.00
IGL02710:Dtnb APN 12 3,698,380 (GRCm39) missense possibly damaging 0.93
R0004:Dtnb UTSW 12 3,646,635 (GRCm39) splice site probably benign
R0601:Dtnb UTSW 12 3,785,039 (GRCm39) splice site probably benign
R1242:Dtnb UTSW 12 3,782,627 (GRCm39) nonsense probably null
R1582:Dtnb UTSW 12 3,823,554 (GRCm39) missense possibly damaging 0.78
R1719:Dtnb UTSW 12 3,693,936 (GRCm39) nonsense probably null
R1960:Dtnb UTSW 12 3,831,190 (GRCm39) missense probably benign 0.34
R2073:Dtnb UTSW 12 3,831,273 (GRCm39) missense probably benign
R2074:Dtnb UTSW 12 3,831,273 (GRCm39) missense probably benign
R3423:Dtnb UTSW 12 3,641,962 (GRCm39) nonsense probably null
R3708:Dtnb UTSW 12 3,639,156 (GRCm39) splice site probably null
R4788:Dtnb UTSW 12 3,822,699 (GRCm39) missense probably damaging 1.00
R4816:Dtnb UTSW 12 3,799,505 (GRCm39) missense probably damaging 0.99
R5086:Dtnb UTSW 12 3,682,942 (GRCm39) missense probably benign 0.19
R5725:Dtnb UTSW 12 3,823,566 (GRCm39) missense probably damaging 1.00
R6724:Dtnb UTSW 12 3,736,817 (GRCm39) missense probably damaging 1.00
R6835:Dtnb UTSW 12 3,682,841 (GRCm39) intron probably benign
R6912:Dtnb UTSW 12 3,698,221 (GRCm39) critical splice acceptor site probably null
R7078:Dtnb UTSW 12 3,798,480 (GRCm39) missense possibly damaging 0.80
R7105:Dtnb UTSW 12 3,698,391 (GRCm39) critical splice donor site probably null
R7408:Dtnb UTSW 12 3,694,272 (GRCm39) splice site probably null
R7538:Dtnb UTSW 12 3,823,611 (GRCm39) missense possibly damaging 0.80
R8239:Dtnb UTSW 12 3,694,056 (GRCm39) missense unknown
R9082:Dtnb UTSW 12 3,822,740 (GRCm39) missense possibly damaging 0.49
R9550:Dtnb UTSW 12 3,768,437 (GRCm39) missense possibly damaging 0.80
R9742:Dtnb UTSW 12 3,736,740 (GRCm39) missense possibly damaging 0.95
X0026:Dtnb UTSW 12 3,736,814 (GRCm39) missense probably damaging 1.00
X0060:Dtnb UTSW 12 3,646,690 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCTTGCTTAGCAGAAGGCAAAACT -3'
(R):5'- GGTCATCTCAGAACCTGTCACTAATCAC -3'

Sequencing Primer
(F):5'- TGGCAGCATCTTGGCGG -3'
(R):5'- actgctcttccacacgac -3'
Posted On 2013-05-23