Incidental Mutation 'R4749:Helb'
| ID |
357409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helb
|
| Ensembl Gene |
ENSMUSG00000020228 |
| Gene Name |
helicase (DNA) B |
| Synonyms |
D10Ertd664e |
| MMRRC Submission |
041969-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R4749 (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: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
T |
19: 57,204,153 (GRCm39) |
D79E |
probably benign |
Het |
| Adgra2 |
A |
G |
8: 27,604,225 (GRCm39) |
K472E |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,018,737 (GRCm39) |
D1106G |
probably benign |
Het |
| Arhgap35 |
T |
C |
7: 16,232,551 (GRCm39) |
E1367G |
possibly damaging |
Het |
| Arsi |
A |
T |
18: 61,050,533 (GRCm39) |
Y472F |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,649,826 (GRCm39) |
D605G |
probably damaging |
Het |
| Atp6v1e2 |
C |
T |
17: 87,252,135 (GRCm39) |
D88N |
probably benign |
Het |
| BC061237 |
T |
A |
14: 44,743,469 (GRCm39) |
V169E |
probably damaging |
Het |
| C1galt1 |
A |
G |
6: 7,866,379 (GRCm39) |
E75G |
probably benign |
Het |
| C9 |
G |
A |
15: 6,519,311 (GRCm39) |
V383I |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,432,720 (GRCm39) |
K222R |
probably benign |
Het |
| Ccna2 |
T |
C |
3: 36,620,391 (GRCm39) |
S421G |
probably benign |
Het |
| Cflar |
T |
G |
1: 58,779,431 (GRCm39) |
V229G |
possibly damaging |
Het |
| Clcn1 |
A |
G |
6: 42,267,131 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
T |
A |
15: 55,315,732 (GRCm39) |
F1342L |
unknown |
Het |
| Colq |
C |
T |
14: 31,251,472 (GRCm39) |
R313H |
possibly damaging |
Het |
| Coro6 |
A |
G |
11: 77,359,974 (GRCm39) |
E345G |
probably damaging |
Het |
| Cracd |
T |
C |
5: 77,006,681 (GRCm39) |
V1014A |
unknown |
Het |
| Cyb561 |
A |
G |
11: 105,826,708 (GRCm39) |
F182L |
probably benign |
Het |
| Dap3 |
A |
G |
3: 88,833,617 (GRCm39) |
S317P |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,724,941 (GRCm39) |
A4404V |
probably damaging |
Het |
| Dsg4 |
A |
G |
18: 20,579,888 (GRCm39) |
E31G |
possibly damaging |
Het |
| Dsn1 |
G |
A |
2: 156,843,660 (GRCm39) |
L147F |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,043,990 (GRCm39) |
V277A |
probably damaging |
Het |
| Eprs1 |
T |
A |
1: 185,128,327 (GRCm39) |
I569K |
probably damaging |
Het |
| Erg |
T |
C |
16: 95,162,029 (GRCm39) |
N342S |
probably damaging |
Het |
| Fam114a1 |
G |
A |
5: 65,166,409 (GRCm39) |
D247N |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,202,294 (GRCm39) |
V260A |
probably benign |
Het |
| Foxn4 |
T |
C |
5: 114,393,628 (GRCm39) |
D497G |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,819,629 (GRCm39) |
I5121V |
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,752,461 (GRCm39) |
D2155E |
probably benign |
Het |
| Glra1 |
C |
A |
11: 55,427,210 (GRCm39) |
D42Y |
probably damaging |
Het |
| Gpr171 |
A |
G |
3: 59,004,887 (GRCm39) |
V296A |
probably benign |
Het |
| Grid1 |
T |
A |
14: 35,302,644 (GRCm39) |
S970T |
possibly damaging |
Het |
| Hcn3 |
A |
T |
3: 89,057,370 (GRCm39) |
|
probably null |
Het |
| Hsd3b3 |
G |
A |
3: 98,649,931 (GRCm39) |
P131S |
probably damaging |
Het |
| Hsp90b1 |
A |
G |
10: 86,537,672 (GRCm39) |
V211A |
probably damaging |
Het |
| Htr2c |
A |
G |
X: 145,976,793 (GRCm39) |
T163A |
probably benign |
Het |
| Ifi208 |
T |
A |
1: 173,523,180 (GRCm39) |
D483E |
possibly damaging |
Het |
| Kbtbd6 |
T |
A |
14: 79,690,727 (GRCm39) |
V474E |
possibly damaging |
Het |
| Kif21b |
T |
A |
1: 136,072,487 (GRCm39) |
Y64* |
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Map3k10 |
T |
C |
7: 27,357,786 (GRCm39) |
D664G |
possibly damaging |
Het |
| Map3k5 |
C |
A |
10: 20,007,798 (GRCm39) |
S1201Y |
probably benign |
Het |
| Mcm2 |
T |
C |
6: 88,868,973 (GRCm39) |
E293G |
possibly damaging |
Het |
| Med21 |
T |
A |
6: 146,551,599 (GRCm39) |
|
probably null |
Het |
| Mettl18 |
T |
C |
1: 163,824,354 (GRCm39) |
V225A |
probably benign |
Het |
| Mmp10 |
A |
T |
9: 7,508,169 (GRCm39) |
I432F |
probably damaging |
Het |
| Muc5b |
T |
G |
7: 141,415,185 (GRCm39) |
Y2710* |
probably null |
Het |
| Neurl4 |
A |
T |
11: 69,801,894 (GRCm39) |
I1282F |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,395,313 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Nktr |
A |
G |
9: 121,570,759 (GRCm39) |
D167G |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,368,669 (GRCm39) |
I249T |
probably damaging |
Het |
| Nsfl1c |
A |
G |
2: 151,351,526 (GRCm39) |
T297A |
probably benign |
Het |
| Oit3 |
A |
T |
10: 59,259,904 (GRCm39) |
C500S |
probably damaging |
Het |
| Or1e1 |
G |
A |
11: 73,245,322 (GRCm39) |
V248M |
probably damaging |
Het |
| Or4a39 |
C |
T |
2: 89,236,599 (GRCm39) |
V275I |
probably benign |
Het |
| Or4k6 |
A |
G |
14: 50,476,190 (GRCm39) |
S51P |
probably damaging |
Het |
| Or5b24 |
C |
T |
19: 12,912,581 (GRCm39) |
H160Y |
probably benign |
Het |
| Or5d36 |
T |
A |
2: 87,900,956 (GRCm39) |
I257L |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,614,327 (GRCm39) |
S375G |
probably damaging |
Het |
| Pgap6 |
T |
C |
17: 26,335,757 (GRCm39) |
F48S |
probably damaging |
Het |
| Phf2 |
A |
T |
13: 48,975,185 (GRCm39) |
|
probably null |
Het |
| Piezo1 |
A |
T |
8: 123,213,678 (GRCm39) |
M1739K |
possibly damaging |
Het |
| Piezo1 |
G |
T |
8: 123,224,945 (GRCm39) |
Q654K |
probably damaging |
Het |
| Pml |
C |
T |
9: 58,141,935 (GRCm39) |
R299H |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,574,130 (GRCm39) |
M236K |
probably damaging |
Het |
| Prkch |
T |
A |
12: 73,739,734 (GRCm39) |
C203S |
probably damaging |
Het |
| Prob1 |
C |
T |
18: 35,785,869 (GRCm39) |
R795H |
possibly damaging |
Het |
| Prr22 |
G |
C |
17: 57,078,274 (GRCm39) |
E142D |
possibly damaging |
Het |
| Prss56 |
C |
A |
1: 87,113,305 (GRCm39) |
A211E |
possibly damaging |
Het |
| Qser1 |
A |
C |
2: 104,617,649 (GRCm39) |
S1054R |
probably benign |
Het |
| Rhbdl2 |
T |
C |
4: 123,720,694 (GRCm39) |
|
probably null |
Het |
| Rhot2 |
C |
A |
17: 26,063,248 (GRCm39) |
G19V |
probably damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,267,249 (GRCm39) |
T945M |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,794,750 (GRCm39) |
T121A |
possibly damaging |
Het |
| Sdad1 |
C |
T |
5: 92,452,836 (GRCm39) |
R134Q |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Sharpin |
T |
A |
15: 76,231,767 (GRCm39) |
D314V |
probably damaging |
Het |
| Slc14a2 |
A |
T |
18: 78,198,796 (GRCm39) |
L778Q |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,552,105 (GRCm39) |
V313A |
probably benign |
Het |
| Slc4a11 |
C |
A |
2: 130,532,787 (GRCm39) |
R222L |
probably damaging |
Het |
| Slc7a10 |
C |
T |
7: 34,900,187 (GRCm39) |
P502S |
probably damaging |
Het |
| Sort1 |
T |
G |
3: 108,263,639 (GRCm39) |
Y812* |
probably null |
Het |
| Spata31d1b |
G |
A |
13: 59,866,172 (GRCm39) |
V1107M |
probably damaging |
Het |
| Tcp10b |
G |
A |
17: 13,289,832 (GRCm39) |
|
probably null |
Het |
| Tnc |
T |
C |
4: 63,913,876 (GRCm39) |
D1312G |
possibly damaging |
Het |
| Tomm40l |
G |
A |
1: 171,047,131 (GRCm39) |
R296* |
probably null |
Het |
| Topors |
A |
T |
4: 40,261,015 (GRCm39) |
S756R |
unknown |
Het |
| Trim9 |
T |
C |
12: 70,295,047 (GRCm39) |
N688D |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,432,734 (GRCm39) |
D744G |
probably benign |
Het |
| Vmn1r224 |
A |
G |
17: 20,640,013 (GRCm39) |
I197V |
probably benign |
Het |
| Zc3h18 |
A |
T |
8: 123,110,382 (GRCm39) |
D77V |
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 |
|
|
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'- GAGGAGCGCATCATTTCTTCC -3'
Sequencing Primer
(F):5'- GTTTTCAgtggtggtgg -3'
(R):5'- TTCCTCAGGCTCGGTCATGG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation