Incidental Mutation 'R4734:Helb'
ID |
359176 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Helb
|
Ensembl Gene |
ENSMUSG00000020228 |
Gene Name |
helicase (DNA) B |
Synonyms |
D10Ertd664e |
MMRRC Submission |
041961-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R4734 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
119919513-119948892 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119920754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1063
(D1063G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020449]
[ENSMUST00000081260]
[ENSMUST00000130387]
[ENSMUST00000144959]
[ENSMUST00000147356]
[ENSMUST00000154501]
|
AlphaFold |
Q6NVF4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020449
AA Change: D1063G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020449 Gene: ENSMUSG00000020228 AA Change: D1063G
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
43 |
N/A |
INTRINSIC |
Pfam:AAA_30
|
434 |
661 |
4.8e-24 |
PFAM |
Pfam:UvrD_C_2
|
855 |
901 |
2.3e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000081260
|
SMART Domains |
Protein: ENSMUSP00000080016 Gene: ENSMUSG00000034813
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
PDZ
|
65 |
145 |
3e-19 |
SMART |
PDZ
|
166 |
242 |
5.2e-19 |
SMART |
PDZ
|
265 |
339 |
8.4e-21 |
SMART |
PDZ
|
518 |
590 |
1.4e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130387
|
SMART Domains |
Protein: ENSMUSP00000123288 Gene: ENSMUSG00000034813
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
PDZ
|
65 |
145 |
6.36e-17 |
SMART |
PDZ
|
166 |
242 |
1.11e-16 |
SMART |
PDZ
|
265 |
339 |
1.73e-18 |
SMART |
PDZ
|
583 |
655 |
2.79e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144959
|
SMART Domains |
Protein: ENSMUSP00000122323 Gene: ENSMUSG00000034813
Domain | Start | End | E-Value | Type |
PDZ
|
62 |
136 |
4.86e-13 |
SMART |
PDZ
|
160 |
238 |
6.4e-22 |
SMART |
PDZ
|
261 |
336 |
1.97e-13 |
SMART |
low complexity region
|
393 |
421 |
N/A |
INTRINSIC |
low complexity region
|
439 |
456 |
N/A |
INTRINSIC |
low complexity region
|
464 |
475 |
N/A |
INTRINSIC |
PDZ
|
480 |
560 |
6.36e-17 |
SMART |
PDZ
|
581 |
657 |
1.11e-16 |
SMART |
PDZ
|
680 |
754 |
1.73e-18 |
SMART |
PDZ
|
998 |
1070 |
2.79e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147356
|
SMART Domains |
Protein: ENSMUSP00000115478 Gene: ENSMUSG00000034813
Domain | Start | End | E-Value | Type |
PDZ
|
63 |
137 |
4.86e-13 |
SMART |
PDZ
|
161 |
239 |
6.4e-22 |
SMART |
PDZ
|
262 |
337 |
1.97e-13 |
SMART |
low complexity region
|
394 |
422 |
N/A |
INTRINSIC |
low complexity region
|
440 |
457 |
N/A |
INTRINSIC |
low complexity region
|
465 |
476 |
N/A |
INTRINSIC |
PDZ
|
481 |
561 |
6.36e-17 |
SMART |
PDZ
|
582 |
658 |
1.11e-16 |
SMART |
PDZ
|
681 |
755 |
1.73e-18 |
SMART |
PDZ
|
999 |
1071 |
2.79e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148241
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154501
|
SMART Domains |
Protein: ENSMUSP00000116954 Gene: ENSMUSG00000020228
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
43 |
N/A |
INTRINSIC |
Pfam:AAA_30
|
434 |
546 |
1.2e-8 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] PHENOTYPE: Homozygous knockout MEFs display increased DNA end resection, resulting in increased level of single-strand DNA formation at double-strand DNA breaks. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700062C07Rik |
A |
G |
18: 24,603,961 (GRCm39) |
M1V |
probably null |
Het |
Abcb11 |
T |
A |
2: 69,154,306 (GRCm39) |
T87S |
possibly damaging |
Het |
Arap3 |
A |
G |
18: 38,129,328 (GRCm39) |
V210A |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,713,479 (GRCm39) |
S246P |
probably damaging |
Het |
Ccdc88a |
A |
G |
11: 29,432,720 (GRCm39) |
K222R |
probably benign |
Het |
Cdhr18 |
T |
C |
14: 13,845,292 (GRCm38) |
N540S |
probably benign |
Het |
Cfap96 |
A |
T |
8: 46,423,454 (GRCm39) |
M86K |
possibly damaging |
Het |
Chsy3 |
C |
A |
18: 59,312,485 (GRCm39) |
F319L |
probably benign |
Het |
Coro2b |
T |
C |
9: 62,333,860 (GRCm39) |
T345A |
probably benign |
Het |
Cpb1 |
A |
G |
3: 20,317,876 (GRCm39) |
V216A |
probably benign |
Het |
Cyp2c65 |
A |
G |
19: 39,060,778 (GRCm39) |
I213V |
probably benign |
Het |
Dcaf15 |
A |
G |
8: 84,824,357 (GRCm39) |
C586R |
probably benign |
Het |
Ddr2 |
T |
A |
1: 169,825,657 (GRCm39) |
E314D |
probably benign |
Het |
Dennd5a |
C |
T |
7: 109,495,543 (GRCm39) |
R1196H |
probably damaging |
Het |
Dnah9 |
G |
A |
11: 65,724,941 (GRCm39) |
A4404V |
probably damaging |
Het |
Dpf2 |
A |
G |
19: 5,957,027 (GRCm39) |
|
probably null |
Het |
Eif2ak4 |
A |
T |
2: 118,252,568 (GRCm39) |
H302L |
probably damaging |
Het |
Eif2d |
G |
T |
1: 131,092,889 (GRCm39) |
R399L |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,202,294 (GRCm39) |
V260A |
probably benign |
Het |
Fhod3 |
T |
A |
18: 25,161,192 (GRCm39) |
Y575N |
probably benign |
Het |
Fscb |
T |
C |
12: 64,521,244 (GRCm39) |
E74G |
possibly damaging |
Het |
Gdpd2 |
G |
A |
X: 99,777,799 (GRCm39) |
M243I |
possibly damaging |
Het |
Glra1 |
C |
A |
11: 55,427,210 (GRCm39) |
D42Y |
probably damaging |
Het |
Gnl2 |
T |
C |
4: 124,934,811 (GRCm39) |
F156L |
probably benign |
Het |
Gpr37 |
C |
A |
6: 25,689,085 (GRCm39) |
R4L |
possibly damaging |
Het |
Hectd4 |
A |
T |
5: 121,480,040 (GRCm39) |
H2892L |
possibly damaging |
Het |
Htr2c |
A |
G |
X: 145,976,793 (GRCm39) |
T163A |
probably benign |
Het |
Impact |
T |
A |
18: 13,118,346 (GRCm39) |
H188Q |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lnx2 |
C |
T |
5: 146,965,947 (GRCm39) |
G391R |
probably damaging |
Het |
Lrrc19 |
T |
C |
4: 94,526,586 (GRCm39) |
I324V |
probably benign |
Het |
Lrrcc1 |
G |
T |
3: 14,627,345 (GRCm39) |
Q458H |
probably damaging |
Het |
Maml3 |
A |
T |
3: 51,597,296 (GRCm39) |
D483E |
probably damaging |
Het |
Mef2c |
T |
A |
13: 83,810,748 (GRCm39) |
*467R |
probably null |
Het |
Mms19 |
T |
A |
19: 41,932,997 (GRCm39) |
S1031C |
probably damaging |
Het |
Myt1l |
T |
C |
12: 29,969,925 (GRCm39) |
I143T |
possibly damaging |
Het |
Nuggc |
T |
C |
14: 65,860,679 (GRCm39) |
Y426H |
probably damaging |
Het |
Oit3 |
A |
T |
10: 59,259,904 (GRCm39) |
C500S |
probably damaging |
Het |
Oog2 |
T |
C |
4: 143,923,021 (GRCm39) |
S429P |
probably benign |
Het |
Or4d1 |
T |
A |
11: 87,805,016 (GRCm39) |
T239S |
probably damaging |
Het |
Or51f1 |
A |
G |
7: 102,506,186 (GRCm39) |
I101T |
probably damaging |
Het |
Or5p1 |
A |
T |
7: 107,916,959 (GRCm39) |
N286I |
probably damaging |
Het |
Or5p51 |
T |
C |
7: 107,444,635 (GRCm39) |
I102V |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,273,040 (GRCm39) |
D93G |
probably benign |
Het |
Pdia5 |
A |
T |
16: 35,276,883 (GRCm39) |
M95K |
probably benign |
Het |
Pdzrn4 |
A |
T |
15: 92,668,133 (GRCm39) |
R762* |
probably null |
Het |
Piezo1 |
G |
T |
8: 123,224,945 (GRCm39) |
Q654K |
probably damaging |
Het |
Ppil3 |
A |
G |
1: 58,470,428 (GRCm39) |
Y141H |
probably benign |
Het |
Prb1c |
T |
A |
6: 132,338,891 (GRCm39) |
N109I |
unknown |
Het |
Rassf8 |
G |
T |
6: 145,761,266 (GRCm39) |
K197N |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,752,639 (GRCm39) |
Q1894R |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,740,847 (GRCm39) |
N487Y |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,368,604 (GRCm39) |
Y307C |
probably damaging |
Het |
Sdad1 |
C |
T |
5: 92,452,836 (GRCm39) |
R134Q |
possibly damaging |
Het |
Shroom1 |
C |
T |
11: 53,356,060 (GRCm39) |
S370F |
probably damaging |
Het |
Slc29a3 |
A |
G |
10: 60,552,105 (GRCm39) |
V313A |
probably benign |
Het |
Slc2a9 |
C |
A |
5: 38,539,442 (GRCm39) |
G353C |
probably damaging |
Het |
Snx33 |
T |
A |
9: 56,833,185 (GRCm39) |
T295S |
possibly damaging |
Het |
Spata31d1b |
G |
A |
13: 59,866,172 (GRCm39) |
V1107M |
probably damaging |
Het |
Supt6 |
T |
C |
11: 78,115,509 (GRCm39) |
D761G |
probably benign |
Het |
Tfeb |
T |
C |
17: 48,096,787 (GRCm39) |
V18A |
probably benign |
Het |
Thap12 |
G |
T |
7: 98,365,161 (GRCm39) |
C443F |
probably damaging |
Het |
Thap12 |
T |
A |
7: 98,365,162 (GRCm39) |
C443* |
probably null |
Het |
Tmem67 |
T |
C |
4: 12,063,158 (GRCm39) |
D496G |
probably benign |
Het |
Trappc8 |
G |
A |
18: 20,974,629 (GRCm39) |
R900* |
probably null |
Het |
Trim9 |
T |
C |
12: 70,295,047 (GRCm39) |
N688D |
probably damaging |
Het |
Trmt1l |
A |
T |
1: 151,318,388 (GRCm39) |
I80L |
probably benign |
Het |
Trpm5 |
C |
A |
7: 142,636,522 (GRCm39) |
V472L |
probably benign |
Het |
Tspear |
C |
T |
10: 77,700,529 (GRCm39) |
L120F |
probably damaging |
Het |
Ttc9b |
G |
A |
7: 27,355,443 (GRCm39) |
V238M |
probably benign |
Het |
Usp20 |
A |
G |
2: 30,909,836 (GRCm39) |
I819V |
probably benign |
Het |
Vmn2r102 |
T |
A |
17: 19,897,795 (GRCm39) |
V270E |
probably damaging |
Het |
Vmn2r63 |
C |
T |
7: 42,577,544 (GRCm39) |
M331I |
probably benign |
Het |
Zc3h18 |
A |
T |
8: 123,110,382 (GRCm39) |
D77V |
probably damaging |
Het |
Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Helb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00340:Helb
|
APN |
10 |
119,934,150 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL00516:Helb
|
APN |
10 |
119,941,329 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00924:Helb
|
APN |
10 |
119,946,889 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00971:Helb
|
APN |
10 |
119,930,168 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01142:Helb
|
APN |
10 |
119,947,049 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01483:Helb
|
APN |
10 |
119,947,043 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01688:Helb
|
APN |
10 |
119,944,885 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01860:Helb
|
APN |
10 |
119,938,738 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02298:Helb
|
APN |
10 |
119,937,431 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02501:Helb
|
APN |
10 |
119,938,693 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02554:Helb
|
APN |
10 |
119,925,617 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02810:Helb
|
APN |
10 |
119,927,608 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02902:Helb
|
APN |
10 |
119,925,390 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03405:Helb
|
APN |
10 |
119,925,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R0004:Helb
|
UTSW |
10 |
119,944,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Helb
|
UTSW |
10 |
119,925,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R0436:Helb
|
UTSW |
10 |
119,930,117 (GRCm39) |
splice site |
probably benign |
|
R0850:Helb
|
UTSW |
10 |
119,941,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R1423:Helb
|
UTSW |
10 |
119,944,871 (GRCm39) |
missense |
probably damaging |
0.99 |
R1663:Helb
|
UTSW |
10 |
119,941,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R1756:Helb
|
UTSW |
10 |
119,930,147 (GRCm39) |
missense |
probably damaging |
0.96 |
R1812:Helb
|
UTSW |
10 |
119,925,471 (GRCm39) |
nonsense |
probably null |
|
R1976:Helb
|
UTSW |
10 |
119,930,168 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2049:Helb
|
UTSW |
10 |
119,941,926 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2063:Helb
|
UTSW |
10 |
119,941,671 (GRCm39) |
missense |
probably benign |
|
R2141:Helb
|
UTSW |
10 |
119,941,926 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2180:Helb
|
UTSW |
10 |
119,941,353 (GRCm39) |
missense |
probably benign |
0.02 |
R2432:Helb
|
UTSW |
10 |
119,941,442 (GRCm39) |
missense |
probably benign |
0.01 |
R3030:Helb
|
UTSW |
10 |
119,925,487 (GRCm39) |
nonsense |
probably null |
|
R3874:Helb
|
UTSW |
10 |
119,941,942 (GRCm39) |
missense |
probably benign |
0.31 |
R3978:Helb
|
UTSW |
10 |
119,925,530 (GRCm39) |
missense |
probably benign |
|
R4731:Helb
|
UTSW |
10 |
119,930,193 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4748:Helb
|
UTSW |
10 |
119,920,754 (GRCm39) |
missense |
probably benign |
|
R4749:Helb
|
UTSW |
10 |
119,920,754 (GRCm39) |
missense |
probably benign |
|
R4840:Helb
|
UTSW |
10 |
119,920,763 (GRCm39) |
missense |
probably benign |
0.33 |
R4977:Helb
|
UTSW |
10 |
119,946,786 (GRCm39) |
missense |
probably benign |
0.01 |
R5149:Helb
|
UTSW |
10 |
119,941,648 (GRCm39) |
missense |
probably benign |
0.39 |
R5220:Helb
|
UTSW |
10 |
119,937,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R5447:Helb
|
UTSW |
10 |
119,938,806 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5637:Helb
|
UTSW |
10 |
119,941,353 (GRCm39) |
missense |
probably benign |
0.02 |
R5660:Helb
|
UTSW |
10 |
119,946,984 (GRCm39) |
nonsense |
probably null |
|
R5663:Helb
|
UTSW |
10 |
119,941,698 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5806:Helb
|
UTSW |
10 |
119,928,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R5951:Helb
|
UTSW |
10 |
119,927,653 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6010:Helb
|
UTSW |
10 |
119,941,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R6183:Helb
|
UTSW |
10 |
119,948,903 (GRCm39) |
splice site |
probably null |
|
R6578:Helb
|
UTSW |
10 |
119,947,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R6642:Helb
|
UTSW |
10 |
119,920,835 (GRCm39) |
missense |
probably benign |
0.17 |
R6666:Helb
|
UTSW |
10 |
119,920,856 (GRCm39) |
missense |
probably damaging |
0.99 |
R6705:Helb
|
UTSW |
10 |
119,925,716 (GRCm39) |
splice site |
probably null |
|
R6746:Helb
|
UTSW |
10 |
119,941,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R7114:Helb
|
UTSW |
10 |
119,941,161 (GRCm39) |
missense |
probably benign |
0.09 |
R7396:Helb
|
UTSW |
10 |
119,925,476 (GRCm39) |
missense |
probably benign |
|
R7422:Helb
|
UTSW |
10 |
119,944,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R7508:Helb
|
UTSW |
10 |
119,941,188 (GRCm39) |
missense |
probably benign |
0.04 |
R7509:Helb
|
UTSW |
10 |
119,925,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R7746:Helb
|
UTSW |
10 |
119,931,007 (GRCm39) |
missense |
probably null |
1.00 |
R8058:Helb
|
UTSW |
10 |
119,941,483 (GRCm39) |
missense |
probably benign |
0.00 |
R8074:Helb
|
UTSW |
10 |
119,925,321 (GRCm39) |
missense |
probably benign |
0.00 |
R8348:Helb
|
UTSW |
10 |
119,938,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R8428:Helb
|
UTSW |
10 |
119,927,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R8448:Helb
|
UTSW |
10 |
119,938,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R8710:Helb
|
UTSW |
10 |
119,941,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R8751:Helb
|
UTSW |
10 |
119,925,412 (GRCm39) |
missense |
probably benign |
0.01 |
R8815:Helb
|
UTSW |
10 |
119,948,692 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8822:Helb
|
UTSW |
10 |
119,941,389 (GRCm39) |
missense |
probably benign |
0.01 |
R9031:Helb
|
UTSW |
10 |
119,920,790 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9340:Helb
|
UTSW |
10 |
119,928,556 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Helb
|
UTSW |
10 |
119,928,595 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAAATGTTCATCTTGTCTTGGGAGG -3'
(R):5'- AGGAGCGCATCATTTCTTCC -3'
Sequencing Primer
(F):5'- GTTTTCAgtggtggtgg -3'
(R):5'- TTCCTCAGGCTCGGTCATGG -3'
|
Posted On |
2015-11-11 |