Incidental Mutation 'R1240:Dbr1'
| ID |
151942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dbr1
|
| Ensembl Gene |
ENSMUSG00000032469 |
| Gene Name |
debranching RNA lariats 1 |
| Synonyms |
|
| MMRRC Submission |
039307-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1240 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
99457852-99466554 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 99466073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 550
(E550D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066650]
[ENSMUST00000139796]
[ENSMUST00000148987]
|
| AlphaFold |
Q923B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066650
AA Change: E550D
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070991
Gene: ENSMUSG00000032469
AA Change: E550D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
1 |
230 |
1.8e-11 |
PFAM |
|
DBR1
|
235 |
380 |
8.27e-85 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136884
|
| SMART Domains |
Protein: ENSMUSP00000114670
Gene: ENSMUSG00000032469
| Domain | Start | End | E-Value | Type |
|---|
|
DBR1
|
20 |
128 |
4.22e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138002
|
| SMART Domains |
Protein: ENSMUSP00000119924
Gene: ENSMUSG00000032469
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
2 |
144 |
5.5e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139796
|
| SMART Domains |
Protein: ENSMUSP00000115203
Gene: ENSMUSG00000032469
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DBR1
|
52 |
82 |
1.8e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148987
|
| SMART Domains |
Protein: ENSMUSP00000115074
Gene: ENSMUSG00000032469
| Domain | Start | End | E-Value | Type |
|---|
|
DBR1
|
162 |
231 |
1.34e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156035
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an RNA lariat debranching enzyme that hydrolyzes 2'-5' prime branched phosphodiester bonds. The encoded protein specifically targets the bonds at the branch point of excised lariat intron RNA, converting them to linear molecules that are then degraded. This protein may also be involved in retroviral replication. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit prenatal lethality. Mice heterozygous for this allele exhibit impaired class switch recombination in B cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
G |
5: 124,227,984 (GRCm39) |
I86L |
probably benign |
Het |
| Ankfn1 |
A |
G |
11: 89,282,960 (GRCm39) |
L229P |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,549 (GRCm39) |
S164P |
probably benign |
Het |
| Arhgef28 |
C |
T |
13: 98,066,000 (GRCm39) |
V1618I |
probably benign |
Het |
| Arpc3 |
T |
C |
5: 122,542,242 (GRCm39) |
F88S |
probably damaging |
Het |
| Asgr2 |
G |
T |
11: 69,987,676 (GRCm39) |
R58L |
possibly damaging |
Het |
| Bach2 |
T |
C |
4: 32,563,198 (GRCm39) |
F432S |
probably damaging |
Het |
| Brms1l |
C |
A |
12: 55,891,293 (GRCm39) |
R116S |
probably damaging |
Het |
| Casp2 |
T |
A |
6: 42,245,879 (GRCm39) |
C179S |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,821,906 (GRCm39) |
E618D |
probably benign |
Het |
| Cdh6 |
T |
A |
15: 13,057,541 (GRCm39) |
D260V |
possibly damaging |
Het |
| Cenpc1 |
G |
T |
5: 86,183,369 (GRCm39) |
N473K |
probably benign |
Het |
| Chst2 |
T |
C |
9: 95,287,536 (GRCm39) |
E270G |
possibly damaging |
Het |
| Chst9 |
C |
T |
18: 15,586,231 (GRCm39) |
E111K |
probably benign |
Het |
| Cyp3a44 |
T |
G |
5: 145,711,250 (GRCm39) |
I474L |
probably benign |
Het |
| Dph6 |
T |
C |
2: 114,475,199 (GRCm39) |
|
probably null |
Het |
| Fam227b |
T |
A |
2: 125,966,505 (GRCm39) |
I136L |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,819,950 (GRCm39) |
N2559S |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,431,581 (GRCm39) |
I435N |
probably damaging |
Het |
| Gab1 |
A |
C |
8: 81,515,159 (GRCm39) |
S386R |
probably damaging |
Het |
| Gkn1 |
T |
A |
6: 87,326,098 (GRCm39) |
N31Y |
probably damaging |
Het |
| Grk2 |
A |
G |
19: 4,340,707 (GRCm39) |
C251R |
probably damaging |
Het |
| H2-DMa |
G |
T |
17: 34,357,380 (GRCm39) |
|
probably null |
Het |
| Hp1bp3 |
T |
C |
4: 137,957,009 (GRCm39) |
S63P |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,581,174 (GRCm39) |
|
probably null |
Het |
| Inf2 |
G |
A |
12: 112,577,210 (GRCm39) |
R1018Q |
unknown |
Het |
| Kat2b |
A |
G |
17: 53,931,425 (GRCm39) |
D141G |
probably benign |
Het |
| Klhl30 |
T |
C |
1: 91,288,737 (GRCm39) |
S499P |
probably benign |
Het |
| Lama2 |
A |
C |
10: 26,917,120 (GRCm39) |
D2268E |
probably damaging |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Marf1 |
T |
C |
16: 13,964,626 (GRCm39) |
N258S |
possibly damaging |
Het |
| Mc1r |
T |
A |
8: 124,134,999 (GRCm39) |
C251S |
probably damaging |
Het |
| Myo15b |
C |
A |
11: 115,771,327 (GRCm39) |
Q257K |
possibly damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,456,176 (GRCm39) |
F2431S |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,186,321 (GRCm39) |
H917L |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,004,292 (GRCm39) |
|
probably null |
Het |
| Nr1d2 |
A |
T |
14: 18,211,891 (GRCm38) |
M404K |
probably benign |
Het |
| Or4b1d |
T |
G |
2: 89,969,157 (GRCm39) |
I109L |
possibly damaging |
Het |
| Or8u8 |
T |
G |
2: 86,012,453 (GRCm39) |
M1L |
possibly damaging |
Het |
| Otoa |
T |
C |
7: 120,755,713 (GRCm39) |
S1040P |
probably benign |
Het |
| Pctp |
T |
C |
11: 89,893,640 (GRCm39) |
D10G |
probably benign |
Het |
| Pja2 |
G |
T |
17: 64,616,613 (GRCm39) |
T94K |
probably benign |
Het |
| Plxna1 |
C |
T |
6: 89,298,032 (GRCm39) |
V1749M |
probably damaging |
Het |
| Prdm15 |
C |
T |
16: 97,638,800 (GRCm39) |
E87K |
probably damaging |
Het |
| Rgsl1 |
A |
G |
1: 153,660,937 (GRCm39) |
F1028L |
probably benign |
Het |
| Sepsecs |
T |
C |
5: 52,818,021 (GRCm39) |
N252S |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,574,304 (GRCm39) |
L749Q |
unknown |
Het |
| Slc22a22 |
G |
A |
15: 57,114,268 (GRCm39) |
S353F |
probably benign |
Het |
| Slc49a4 |
A |
G |
16: 35,518,379 (GRCm39) |
F445L |
probably benign |
Het |
| Slc7a13 |
A |
T |
4: 19,819,212 (GRCm39) |
K137N |
probably damaging |
Het |
| Snx13 |
G |
T |
12: 35,141,405 (GRCm39) |
V163L |
probably damaging |
Het |
| Synrg |
A |
T |
11: 83,914,182 (GRCm39) |
T1115S |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,740,928 (GRCm39) |
V1185A |
possibly damaging |
Het |
| Tent5b |
T |
C |
4: 133,213,815 (GRCm39) |
F229L |
probably benign |
Het |
| Tg |
T |
A |
15: 66,700,397 (GRCm39) |
N118K |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,541,916 (GRCm39) |
K153E |
probably damaging |
Het |
| Trmt11 |
T |
C |
10: 30,466,821 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,675,061 (GRCm39) |
D1953G |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,828,864 (GRCm39) |
S137C |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,580,271 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Dbr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01642:Dbr1
|
APN |
9 |
99,458,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01952:Dbr1
|
APN |
9 |
99,464,465 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01995:Dbr1
|
APN |
9 |
99,465,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4340:Dbr1
|
UTSW |
9 |
99,465,754 (GRCm39) |
unclassified |
probably benign |
|
|
FR4342:Dbr1
|
UTSW |
9 |
99,465,733 (GRCm39) |
unclassified |
probably benign |
|
|
FR4449:Dbr1
|
UTSW |
9 |
99,465,749 (GRCm39) |
unclassified |
probably benign |
|
|
FR4449:Dbr1
|
UTSW |
9 |
99,465,727 (GRCm39) |
unclassified |
probably benign |
|
|
FR4449:Dbr1
|
UTSW |
9 |
99,465,739 (GRCm39) |
unclassified |
probably benign |
|
|
FR4548:Dbr1
|
UTSW |
9 |
99,465,726 (GRCm39) |
nonsense |
probably null |
|
|
FR4589:Dbr1
|
UTSW |
9 |
99,465,736 (GRCm39) |
unclassified |
probably benign |
|
|
FR4589:Dbr1
|
UTSW |
9 |
99,465,749 (GRCm39) |
unclassified |
probably benign |
|
|
FR4589:Dbr1
|
UTSW |
9 |
99,465,730 (GRCm39) |
unclassified |
probably benign |
|
|
FR4589:Dbr1
|
UTSW |
9 |
99,465,733 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Dbr1
|
UTSW |
9 |
99,465,752 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Dbr1
|
UTSW |
9 |
99,465,739 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Dbr1
|
UTSW |
9 |
99,465,755 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Dbr1
|
UTSW |
9 |
99,465,742 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Dbr1
|
UTSW |
9 |
99,465,745 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Dbr1
|
UTSW |
9 |
99,465,754 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4131001:Dbr1
|
UTSW |
9 |
99,466,072 (GRCm39) |
splice site |
probably null |
|
|
R0100:Dbr1
|
UTSW |
9 |
99,465,722 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1502:Dbr1
|
UTSW |
9 |
99,464,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2265:Dbr1
|
UTSW |
9 |
99,461,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2279:Dbr1
|
UTSW |
9 |
99,462,200 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5202:Dbr1
|
UTSW |
9 |
99,465,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7012:Dbr1
|
UTSW |
9 |
99,465,374 (GRCm39) |
nonsense |
probably null |
|
|
R7025:Dbr1
|
UTSW |
9 |
99,458,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7037:Dbr1
|
UTSW |
9 |
99,458,621 (GRCm39) |
splice site |
probably null |
|
|
R7192:Dbr1
|
UTSW |
9 |
99,458,755 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7350:Dbr1
|
UTSW |
9 |
99,464,602 (GRCm39) |
missense |
|
|
|
R7396:Dbr1
|
UTSW |
9 |
99,465,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7601:Dbr1
|
UTSW |
9 |
99,464,655 (GRCm39) |
nonsense |
probably null |
|
|
R7659:Dbr1
|
UTSW |
9 |
99,458,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8866:Dbr1
|
UTSW |
9 |
99,460,497 (GRCm39) |
nonsense |
probably null |
|
|
R9629:Dbr1
|
UTSW |
9 |
99,464,523 (GRCm39) |
missense |
|
|
|
RF028:Dbr1
|
UTSW |
9 |
99,465,750 (GRCm39) |
nonsense |
probably null |
|
|
RF033:Dbr1
|
UTSW |
9 |
99,465,750 (GRCm39) |
nonsense |
probably null |
|
|
RF038:Dbr1
|
UTSW |
9 |
99,465,750 (GRCm39) |
unclassified |
probably benign |
|
|
RF040:Dbr1
|
UTSW |
9 |
99,465,750 (GRCm39) |
nonsense |
probably null |
|
|
RF043:Dbr1
|
UTSW |
9 |
99,465,750 (GRCm39) |
unclassified |
probably benign |
|
|
RF045:Dbr1
|
UTSW |
9 |
99,465,724 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGGCTTCTGACCTCTCTACAAG -3'
(R):5'- TGAGCTGTCATGCAGCAGGATG -3'
Sequencing Primer
(F):5'- TTCTGACATCAGGAACTTACCAAG -3'
(R):5'- AGTCCCATCTTAGAGAACAGTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation