Incidental Mutation 'IGL02710:Dtnb'
ID 304521
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dtnb
Ensembl Gene ENSMUSG00000071454
Gene Name dystrobrevin, beta
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02710
Quality Score
Status
Chromosome 12
Chromosomal Location 3622381-3831796 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3698380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 289 (H289Q)
Ref Sequence ENSEMBL: ENSMUSP00000134519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077930] [ENSMUST00000101637] [ENSMUST00000164578] [ENSMUST00000164607] [ENSMUST00000173240] [ENSMUST00000174663] [ENSMUST00000173199] [ENSMUST00000174547] [ENSMUST00000173736] [ENSMUST00000174479] [ENSMUST00000173483] [ENSMUST00000174109] [ENSMUST00000174290] [ENSMUST00000174639]
AlphaFold O70585
Predicted Effect probably benign
Transcript: ENSMUST00000077930
AA Change: H289Q

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000077085
Gene: ENSMUSG00000071454
AA Change: H289Q

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 possibly damaging
Transcript: ENSMUST00000101637
AA Change: H289Q

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099161
Gene: ENSMUSG00000071454
AA Change: H289Q

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 possibly damaging
Transcript: ENSMUST00000164578
AA Change: H289Q

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126194
Gene: ENSMUSG00000071454
AA Change: H289Q

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 benign
Transcript: ENSMUST00000164607
AA Change: H289Q

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128230
Gene: ENSMUSG00000071454
AA Change: H289Q

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 unknown
Transcript: ENSMUST00000172598
AA Change: H102Q
SMART Domains Protein: ENSMUSP00000134124
Gene: ENSMUSG00000071454
AA Change: H102Q

DomainStartEndE-ValueType
Pfam:EF-hand_3 1 46 7.7e-15 PFAM
ZnF_ZZ 51 96 3.29e-15 SMART
low complexity region 217 230 N/A INTRINSIC
coiled coil region 242 332 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000173240
AA Change: H289Q

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133722
Gene: ENSMUSG00000071454
AA Change: H289Q

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 benign
Transcript: ENSMUST00000174663
AA Change: H289Q

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134146
Gene: ENSMUSG00000071454
AA Change: H289Q

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 benign
Transcript: ENSMUST00000173199
AA Change: H289Q

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000134392
Gene: ENSMUSG00000071454
AA Change: H289Q

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 benign
Transcript: ENSMUST00000174547
AA Change: H289Q

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133927
Gene: ENSMUSG00000071454
AA Change: H289Q

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 possibly damaging
Transcript: ENSMUST00000173736
AA Change: H289Q

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134519
Gene: ENSMUSG00000071454
AA Change: H289Q

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 noncoding transcript
Transcript: ENSMUST00000173524
Predicted Effect probably benign
Transcript: ENSMUST00000174479
SMART Domains Protein: ENSMUSP00000133702
Gene: ENSMUSG00000071454

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 140 3.9e-41 PFAM
Pfam:EF-hand_3 144 232 3.5e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173483
SMART Domains Protein: ENSMUSP00000134390
Gene: ENSMUSG00000071454

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 61 7.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174109
SMART Domains Protein: ENSMUSP00000134151
Gene: ENSMUSG00000071454

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

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 140 6e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174639
SMART Domains Protein: ENSMUSP00000133601
Gene: ENSMUSG00000071454

DomainStartEndE-ValueType
Pfam:EF-hand_2 14 123 6.9e-35 PFAM
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 T G 1: 58,373,928 (GRCm39) probably null Het
Col18a1 G A 10: 76,949,146 (GRCm39) A122V possibly damaging Het
Dnai3 A T 3: 145,753,903 (GRCm39) I719N possibly damaging Het
Fat4 A T 3: 38,944,744 (GRCm39) K1212N probably damaging Het
Gm10392 T C 11: 77,409,294 (GRCm39) H44R possibly damaging Het
Herc2 G A 7: 55,787,562 (GRCm39) A1740T possibly damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Knl1 A C 2: 118,901,411 (GRCm39) E1037D probably damaging Het
Lsg1 A T 16: 30,390,292 (GRCm39) D274E probably benign Het
Msantd3 A G 4: 48,552,686 (GRCm39) K92E probably damaging Het
Nap1l4 G A 7: 143,077,998 (GRCm39) T312I probably benign Het
Nlrp3 A G 11: 59,456,802 (GRCm39) E988G probably damaging Het
Or11g2 C T 14: 50,856,255 (GRCm39) T192I probably benign Het
Palm3 C T 8: 84,754,941 (GRCm39) T151I possibly damaging Het
Pde1b T C 15: 103,430,484 (GRCm39) W144R probably damaging Het
Piezo2 A G 18: 63,207,730 (GRCm39) L1427P probably damaging Het
Rasal1 A T 5: 120,804,496 (GRCm39) H456L possibly damaging Het
Sec16a C T 2: 26,320,142 (GRCm39) G1432D possibly damaging Het
Shc1 A G 3: 89,331,917 (GRCm39) probably null Het
Skint5 T A 4: 113,335,156 (GRCm39) I1452F unknown Het
Slc35b4 C A 6: 34,135,476 (GRCm39) V279L probably benign Het
Snx9 T C 17: 5,958,873 (GRCm39) V283A probably damaging Het
Stra6l T C 4: 45,882,728 (GRCm39) F480L possibly damaging Het
Stt3a A G 9: 36,670,041 (GRCm39) Y132H probably damaging Het
Sv2c T A 13: 96,125,649 (GRCm39) I363F probably damaging Het
Tnfrsf21 C T 17: 43,398,820 (GRCm39) T642I probably damaging Het
Tubgcp2 G A 7: 139,584,897 (GRCm39) probably benign Het
Usp47 A G 7: 111,692,132 (GRCm39) N845D probably benign Het
Wdr20 A T 12: 110,759,544 (GRCm39) probably benign Het
Zfp518b A G 5: 38,830,061 (GRCm39) V648A probably damaging Het
Zfp687 A T 3: 94,916,084 (GRCm39) S927T probably benign 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
R0004:Dtnb UTSW 12 3,646,635 (GRCm39) splice site probably benign
R0449:Dtnb UTSW 12 3,641,971 (GRCm39) nonsense probably null
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
Posted On 2015-04-16