Incidental Mutation 'R6705:Helb'
| ID |
528907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helb
|
| Ensembl Gene |
ENSMUSG00000020228 |
| Gene Name |
helicase (DNA) B |
| Synonyms |
D10Ertd664e |
| MMRRC Submission |
044823-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R6705 (G1)
|
| Quality Score |
224.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
119919513-119948892 bp(-) (GRCm39) |
| Type of Mutation |
splice site (2551 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 119925716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020449]
[ENSMUST00000081260]
[ENSMUST00000130387]
[ENSMUST00000144959]
[ENSMUST00000147356]
[ENSMUST00000154501]
|
| AlphaFold |
Q6NVF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020449
AA Change: V887A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: V887A
| 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 null
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 null
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 null
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 |
|
| Meta Mutation Damage Score |
0.4396 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (44/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
G |
A |
19: 57,204,253 (GRCm39) |
T46I |
probably benign |
Het |
| Afdn |
G |
A |
17: 14,108,283 (GRCm39) |
V1269I |
probably benign |
Het |
| Aldh5a1 |
A |
T |
13: 25,096,253 (GRCm39) |
N448K |
probably damaging |
Het |
| Cant1 |
G |
T |
11: 118,298,698 (GRCm39) |
T355K |
probably damaging |
Het |
| Ccn2 |
T |
A |
10: 24,471,853 (GRCm39) |
L25Q |
probably damaging |
Het |
| Comp |
C |
A |
8: 70,829,387 (GRCm39) |
N321K |
probably damaging |
Het |
| D1Pas1 |
G |
T |
1: 186,700,576 (GRCm39) |
E168D |
probably benign |
Het |
| Ddx23 |
G |
A |
15: 98,550,849 (GRCm39) |
R111* |
probably null |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Erlin2 |
T |
A |
8: 27,526,468 (GRCm39) |
L276Q |
probably damaging |
Het |
| Etaa1 |
T |
C |
11: 17,895,639 (GRCm39) |
N826S |
probably benign |
Het |
| Fam168b |
A |
T |
1: 34,867,864 (GRCm39) |
N45K |
probably damaging |
Het |
| Gas2l2 |
G |
A |
11: 83,313,462 (GRCm39) |
R617* |
probably null |
Het |
| Gtf3c2 |
C |
A |
5: 31,323,352 (GRCm39) |
C533F |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,092,062 (GRCm39) |
T676A |
probably damaging |
Het |
| Igkv3-7 |
A |
T |
6: 70,585,004 (GRCm39) |
S95C |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,952,926 (GRCm39) |
I899V |
probably damaging |
Het |
| Lgr5 |
G |
A |
10: 115,423,193 (GRCm39) |
S69F |
probably damaging |
Het |
| Lrrc55 |
A |
T |
2: 85,026,699 (GRCm39) |
D108E |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,429,027 (GRCm39) |
N667S |
possibly damaging |
Het |
| Myf6 |
C |
T |
10: 107,329,690 (GRCm39) |
V198M |
possibly damaging |
Het |
| Nav2 |
T |
C |
7: 49,201,664 (GRCm39) |
S1413P |
probably damaging |
Het |
| Nfe2l1 |
A |
C |
11: 96,718,451 (GRCm39) |
V28G |
probably damaging |
Het |
| Nup210 |
G |
T |
6: 91,064,942 (GRCm39) |
T186K |
possibly damaging |
Het |
| Or13a18 |
T |
A |
7: 140,190,697 (GRCm39) |
M206K |
probably damaging |
Het |
| Or6c1b |
G |
A |
10: 129,272,941 (GRCm39) |
D87N |
probably benign |
Het |
| Or8b12 |
T |
A |
9: 37,658,030 (GRCm39) |
I200N |
possibly damaging |
Het |
| Or8b4 |
T |
A |
9: 37,830,080 (GRCm39) |
N42K |
probably damaging |
Het |
| Ppfia1 |
G |
A |
7: 144,072,911 (GRCm39) |
T301M |
possibly damaging |
Het |
| Ppp1r14c |
A |
T |
10: 3,316,890 (GRCm39) |
Y75F |
probably damaging |
Het |
| Ppp1r3g |
C |
A |
13: 36,152,880 (GRCm39) |
A100E |
probably benign |
Het |
| Rictor |
A |
G |
15: 6,823,493 (GRCm39) |
T1557A |
probably benign |
Het |
| Shc1 |
C |
T |
3: 89,330,266 (GRCm39) |
R67* |
probably null |
Het |
| Skint10 |
A |
T |
4: 112,630,301 (GRCm39) |
|
probably benign |
Het |
| Slk |
A |
G |
19: 47,597,498 (GRCm39) |
N102S |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,332,203 (GRCm39) |
|
probably benign |
Het |
| Tiam2 |
G |
A |
17: 3,568,518 (GRCm39) |
V1555I |
probably benign |
Het |
| Vmn1r174 |
C |
A |
7: 23,453,851 (GRCm39) |
S172R |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,151,157 (GRCm39) |
N823K |
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,154,852 (GRCm39) |
Y22N |
probably damaging |
Het |
| Xrn2 |
A |
G |
2: 146,878,582 (GRCm39) |
|
probably null |
Het |
| Zbp1 |
A |
T |
2: 173,055,680 (GRCm39) |
C161* |
probably null |
Het |
| Zfp236 |
T |
A |
18: 82,651,862 (GRCm39) |
E821V |
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 |
|
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'- GGGATGCGAAACCTGTTGAG -3'
(R):5'- ATTCCTACTGTGCATGTGGG -3'
Sequencing Primer
(F):5'- CGAAACCTGTTGAGGGTGC -3'
(R):5'- GGACACAAGGTCTCCGTGATTTC -3'
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| Posted On |
2018-07-24 |
Incidental Mutation