Incidental Mutation 'R8751:Helb'
ID |
663860 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Helb
|
Ensembl Gene |
ENSMUSG00000020228 |
Gene Name |
helicase (DNA) B |
Synonyms |
D10Ertd664e |
MMRRC Submission |
068594-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R8751 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
119919513-119948892 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 119925412 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 988
(D988E)
|
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: D988E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000020449 Gene: ENSMUSG00000020228 AA Change: D988E
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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.2%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
T |
A |
15: 11,215,813 (GRCm39) |
I278N |
probably damaging |
Het |
Adcy9 |
A |
G |
16: 4,129,492 (GRCm39) |
W702R |
probably damaging |
Het |
Adgrf5 |
G |
A |
17: 43,748,574 (GRCm39) |
V468I |
possibly damaging |
Het |
Ahnak |
A |
C |
19: 8,987,509 (GRCm39) |
K2931T |
probably damaging |
Het |
Ank3 |
C |
T |
10: 69,761,849 (GRCm39) |
|
probably benign |
Het |
Birc6 |
G |
A |
17: 74,955,135 (GRCm39) |
V3480I |
probably damaging |
Het |
Bpifa5 |
A |
T |
2: 154,007,432 (GRCm39) |
I125L |
probably benign |
Het |
Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
Ccm2l |
A |
T |
2: 152,909,695 (GRCm39) |
I16F |
probably benign |
Het |
Cep72 |
G |
A |
13: 74,198,303 (GRCm39) |
S359F |
possibly damaging |
Het |
Col1a1 |
A |
G |
11: 94,838,100 (GRCm39) |
N844S |
unknown |
Het |
Col7a1 |
C |
T |
9: 108,796,730 (GRCm39) |
P1623S |
possibly damaging |
Het |
Crybg1 |
T |
C |
10: 43,880,838 (GRCm39) |
K117E |
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,845,402 (GRCm39) |
C54R |
|
Het |
Dlg1 |
A |
G |
16: 31,600,648 (GRCm39) |
T211A |
probably benign |
Het |
Emc1 |
C |
A |
4: 139,097,279 (GRCm39) |
H724N |
possibly damaging |
Het |
Epg5 |
A |
C |
18: 78,008,223 (GRCm39) |
N784H |
probably benign |
Het |
Epg5 |
T |
A |
18: 78,008,225 (GRCm39) |
N784K |
probably benign |
Het |
Epg5 |
A |
T |
18: 78,008,224 (GRCm39) |
N784I |
possibly damaging |
Het |
Erc2 |
A |
G |
14: 27,802,145 (GRCm39) |
E771G |
possibly damaging |
Het |
Exo1 |
T |
C |
1: 175,719,678 (GRCm39) |
V241A |
probably benign |
Het |
Fat4 |
A |
G |
3: 38,946,002 (GRCm39) |
T1632A |
probably benign |
Het |
Fbxo21 |
T |
A |
5: 118,140,127 (GRCm39) |
M529K |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,646,134 (GRCm39) |
E276G |
probably benign |
Het |
Frem1 |
G |
A |
4: 82,889,015 (GRCm39) |
T1069I |
probably damaging |
Het |
Gapvd1 |
A |
C |
2: 34,568,078 (GRCm39) |
F1429V |
probably damaging |
Het |
Gbp9 |
T |
C |
5: 105,229,117 (GRCm39) |
E510G |
possibly damaging |
Het |
Gm17087 |
A |
T |
17: 8,785,510 (GRCm39) |
H64Q |
probably damaging |
Het |
Gm19965 |
A |
T |
1: 116,749,867 (GRCm39) |
Y516F |
unknown |
Het |
Hdac5 |
A |
T |
11: 102,109,280 (GRCm39) |
I38N |
probably benign |
Het |
Hectd4 |
T |
A |
5: 121,501,838 (GRCm39) |
C4190* |
probably null |
Het |
Herc6 |
C |
T |
6: 57,639,359 (GRCm39) |
S909L |
probably damaging |
Het |
Ice1 |
A |
T |
13: 70,751,010 (GRCm39) |
V1692E |
probably damaging |
Het |
Ino80 |
A |
G |
2: 119,237,389 (GRCm39) |
Y1107H |
probably benign |
Het |
Kif9 |
A |
T |
9: 110,330,724 (GRCm39) |
Y350F |
probably benign |
Het |
Lct |
T |
A |
1: 128,221,534 (GRCm39) |
T1570S |
probably benign |
Het |
Lias |
T |
A |
5: 65,557,193 (GRCm39) |
N203K |
probably benign |
Het |
Lrrtm4 |
A |
G |
6: 79,999,092 (GRCm39) |
N168S |
probably damaging |
Het |
Ltf |
A |
T |
9: 110,860,192 (GRCm39) |
K538* |
probably null |
Het |
Lysmd4 |
A |
G |
7: 66,875,787 (GRCm39) |
D150G |
probably benign |
Het |
Magi2 |
A |
G |
5: 20,739,462 (GRCm39) |
D572G |
probably benign |
Het |
Meiob |
T |
C |
17: 25,047,008 (GRCm39) |
|
probably null |
Het |
Ncor2 |
T |
C |
5: 125,115,964 (GRCm39) |
Y130C |
|
Het |
Ntmt2 |
T |
A |
1: 163,544,738 (GRCm39) |
T82S |
probably benign |
Het |
Ofcc1 |
A |
G |
13: 40,409,072 (GRCm39) |
S118P |
probably benign |
Het |
Or10g3 |
A |
G |
14: 52,610,420 (GRCm39) |
F30S |
probably benign |
Het |
Or2t45 |
A |
G |
11: 58,669,213 (GRCm39) |
T87A |
probably benign |
Het |
Or8b55 |
T |
A |
9: 38,727,335 (GRCm39) |
C179S |
probably damaging |
Het |
Parp14 |
A |
T |
16: 35,677,181 (GRCm39) |
M929K |
probably benign |
Het |
Pcdh8 |
T |
C |
14: 80,006,229 (GRCm39) |
E778G |
probably benign |
Het |
Pgls |
T |
C |
8: 72,047,838 (GRCm39) |
V211A |
probably benign |
Het |
Pkd2 |
T |
A |
5: 104,637,151 (GRCm39) |
M588K |
probably damaging |
Het |
Pms1 |
T |
C |
1: 53,231,269 (GRCm39) |
N860S |
probably benign |
Het |
Psg19 |
C |
T |
7: 18,530,888 (GRCm39) |
V89M |
probably benign |
Het |
Reln |
T |
C |
5: 22,147,672 (GRCm39) |
H2426R |
probably benign |
Het |
Ripor2 |
T |
A |
13: 24,885,050 (GRCm39) |
N428K |
possibly damaging |
Het |
Slc12a4 |
C |
T |
8: 106,676,285 (GRCm39) |
|
probably null |
Het |
Slc25a3 |
T |
C |
10: 90,952,960 (GRCm39) |
I314V |
probably benign |
Het |
Slc29a1 |
C |
A |
17: 45,900,688 (GRCm39) |
V125F |
probably benign |
Het |
Slc9a5 |
T |
A |
8: 106,085,981 (GRCm39) |
C583S |
probably damaging |
Het |
Slco2b1 |
G |
A |
7: 99,309,259 (GRCm39) |
Q691* |
probably null |
Het |
Smg7 |
T |
C |
1: 152,719,129 (GRCm39) |
D874G |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,729,723 (GRCm39) |
K132* |
probably null |
Het |
Tap1 |
A |
G |
17: 34,412,133 (GRCm39) |
K446R |
probably benign |
Het |
Tcam1 |
A |
T |
11: 106,176,443 (GRCm39) |
T390S |
possibly damaging |
Het |
Tnik |
A |
G |
3: 28,666,057 (GRCm39) |
N687D |
probably damaging |
Het |
Trim42 |
T |
C |
9: 97,251,852 (GRCm39) |
R16G |
possibly damaging |
Het |
Vcp |
A |
C |
4: 42,984,658 (GRCm39) |
L411W |
probably damaging |
Het |
Vma21-ps |
C |
A |
4: 52,496,973 (GRCm39) |
G91V |
probably damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,903,452 (GRCm39) |
T109A |
probably benign |
Het |
Vmn2r67 |
C |
T |
7: 84,801,450 (GRCm39) |
C162Y |
probably benign |
Het |
Vmn2r-ps117 |
A |
G |
17: 19,044,021 (GRCm39) |
T366A |
probably benign |
Het |
Zfp804a |
A |
G |
2: 82,066,190 (GRCm39) |
K54E |
probably damaging |
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 |
|
R4734:Helb
|
UTSW |
10 |
119,920,754 (GRCm39) |
missense |
probably benign |
|
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 |
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'- CTATTCGCTAGCAGAAGTACGC -3'
(R):5'- ACGCGTTTGAAACACTTCTTG -3'
Sequencing Primer
(F):5'- AGAAGTACGCACGCTCCTGTC -3'
(R):5'- TCTTGCAGAAGAAGCTCTCTGGC -3'
|
Posted On |
2021-03-08 |