Incidental Mutation 'R4748:Helb'
| ID |
357314 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helb
|
| Ensembl Gene |
ENSMUSG00000020228 |
| Gene Name |
helicase (DNA) B |
| Synonyms |
D10Ertd664e |
| MMRRC Submission |
042030-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R4748 (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: 97.1%
- 20x: 94.9%
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
T |
A |
1: 138,784,394 (GRCm39) |
E54D |
possibly damaging |
Het |
| Abcb6 |
C |
A |
1: 75,154,002 (GRCm39) |
G367W |
probably damaging |
Het |
| Asprv1 |
A |
G |
6: 86,605,405 (GRCm39) |
M84V |
probably damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,592,333 (GRCm39) |
V291A |
probably damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,651,633 (GRCm39) |
F980L |
probably damaging |
Het |
| Bpi |
G |
A |
2: 158,113,941 (GRCm39) |
V280I |
possibly damaging |
Het |
| Bptf |
T |
C |
11: 106,986,706 (GRCm39) |
D581G |
probably damaging |
Het |
| Cap2 |
T |
A |
13: 46,793,302 (GRCm39) |
Y223N |
possibly damaging |
Het |
| Ccdc141 |
A |
C |
2: 76,888,324 (GRCm39) |
I480M |
possibly damaging |
Het |
| Ccn4 |
C |
A |
15: 66,778,489 (GRCm39) |
Y103* |
probably null |
Het |
| Ccnh |
T |
A |
13: 85,337,758 (GRCm39) |
V35E |
probably benign |
Het |
| Cd6 |
G |
T |
19: 10,771,589 (GRCm39) |
S433* |
probably null |
Het |
| Ceacam10 |
A |
C |
7: 24,480,477 (GRCm39) |
I83L |
probably benign |
Het |
| Chek2 |
T |
C |
5: 111,003,705 (GRCm39) |
|
probably null |
Het |
| Chia1 |
A |
T |
3: 106,029,765 (GRCm39) |
D73V |
probably damaging |
Het |
| Commd2 |
G |
A |
3: 57,554,215 (GRCm39) |
T162I |
probably benign |
Het |
| Creb3l3 |
C |
T |
10: 80,921,881 (GRCm39) |
A316T |
probably benign |
Het |
| Cul4a |
A |
G |
8: 13,173,526 (GRCm39) |
K1R |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 44,005,176 (GRCm39) |
|
probably null |
Het |
| D630045J12Rik |
T |
C |
6: 38,173,776 (GRCm39) |
T131A |
possibly damaging |
Het |
| Dctn4 |
A |
C |
18: 60,683,308 (GRCm39) |
K295N |
probably damaging |
Het |
| Dnah1 |
A |
G |
14: 31,041,902 (GRCm39) |
V23A |
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,767,048 (GRCm39) |
K91E |
possibly damaging |
Het |
| Dzip1l |
A |
G |
9: 99,524,704 (GRCm39) |
D275G |
probably damaging |
Het |
| Enam |
C |
A |
5: 88,649,402 (GRCm39) |
P304T |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,125,812 (GRCm39) |
Y107H |
probably damaging |
Het |
| Exd2 |
T |
C |
12: 80,527,350 (GRCm39) |
L27P |
probably damaging |
Het |
| Fam135b |
T |
A |
15: 71,335,904 (GRCm39) |
D430V |
probably benign |
Het |
| Fam222b |
C |
T |
11: 78,045,429 (GRCm39) |
T202I |
possibly damaging |
Het |
| Fmod |
T |
A |
1: 133,968,912 (GRCm39) |
N317K |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,448,514 (GRCm39) |
F2301L |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,338,088 (GRCm39) |
F127S |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,243,848 (GRCm39) |
S132G |
probably benign |
Het |
| Gm4787 |
A |
G |
12: 81,424,830 (GRCm39) |
C443R |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 49,411,437 (GRCm39) |
M5V |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Krt90 |
G |
A |
15: 101,463,768 (GRCm39) |
L429F |
probably damaging |
Het |
| Lrr1 |
C |
A |
12: 69,221,236 (GRCm39) |
T126K |
probably benign |
Het |
| Mgat4e |
C |
A |
1: 134,469,766 (GRCm39) |
D93Y |
probably damaging |
Het |
| Mllt3 |
A |
T |
4: 87,759,018 (GRCm39) |
S343R |
possibly damaging |
Het |
| Mms19 |
T |
A |
19: 41,932,997 (GRCm39) |
S1031C |
probably damaging |
Het |
| Mtrf1 |
C |
T |
14: 79,649,090 (GRCm39) |
H237Y |
probably damaging |
Het |
| Nckap1l |
T |
A |
15: 103,381,483 (GRCm39) |
L408Q |
probably damaging |
Het |
| Oit3 |
A |
T |
10: 59,259,904 (GRCm39) |
C500S |
probably damaging |
Het |
| Or11g1 |
T |
G |
14: 50,651,333 (GRCm39) |
L111V |
possibly damaging |
Het |
| Or13c3 |
A |
G |
4: 52,856,076 (GRCm39) |
S146P |
possibly damaging |
Het |
| Or4a39 |
C |
T |
2: 89,236,599 (GRCm39) |
V275I |
probably benign |
Het |
| Or5d36 |
T |
A |
2: 87,900,956 (GRCm39) |
I257L |
probably benign |
Het |
| Otud7a |
T |
C |
7: 63,385,663 (GRCm39) |
S376P |
possibly damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,907,322 (GRCm39) |
K196* |
probably null |
Het |
| Paqr8 |
T |
A |
1: 21,005,637 (GRCm39) |
C264S |
probably benign |
Het |
| Pgm1 |
T |
A |
4: 99,839,176 (GRCm39) |
F459Y |
probably benign |
Het |
| Phip |
C |
A |
9: 82,790,922 (GRCm39) |
V675L |
probably benign |
Het |
| Pnma1 |
T |
G |
12: 84,194,497 (GRCm39) |
T69P |
probably benign |
Het |
| Ppp1r14bl |
T |
C |
1: 23,140,951 (GRCm39) |
E121G |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,210,383 (GRCm39) |
C242* |
probably null |
Het |
| Rabep1 |
T |
A |
11: 70,799,294 (GRCm39) |
V306E |
probably benign |
Het |
| Ros1 |
C |
T |
10: 51,992,093 (GRCm39) |
D1377N |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,794,750 (GRCm39) |
T121A |
possibly damaging |
Het |
| Scaf11 |
G |
A |
15: 96,318,302 (GRCm39) |
Q421* |
probably null |
Het |
| Shcbp1 |
G |
A |
8: 4,794,512 (GRCm39) |
T427M |
probably damaging |
Het |
| Shprh |
G |
A |
10: 11,046,220 (GRCm39) |
R979H |
probably damaging |
Het |
| Slc22a27 |
C |
T |
19: 7,903,241 (GRCm39) |
C163Y |
probably benign |
Het |
| Slc27a1 |
A |
G |
8: 72,033,319 (GRCm39) |
D287G |
probably damaging |
Het |
| Slc27a1 |
C |
T |
8: 72,033,453 (GRCm39) |
T310M |
possibly damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,552,105 (GRCm39) |
V313A |
probably benign |
Het |
| Slc35f2 |
A |
T |
9: 53,679,069 (GRCm39) |
M1L |
probably benign |
Het |
| Sltm |
G |
C |
9: 70,488,647 (GRCm39) |
R599T |
probably damaging |
Het |
| Spic |
T |
A |
10: 88,511,752 (GRCm39) |
Q168L |
probably damaging |
Het |
| Spink6 |
G |
A |
18: 44,215,428 (GRCm39) |
|
probably null |
Het |
| Stac2 |
T |
C |
11: 97,932,198 (GRCm39) |
E235G |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,246,388 (GRCm39) |
Q957* |
probably null |
Het |
| Them7 |
A |
T |
2: 105,208,991 (GRCm39) |
T104S |
possibly damaging |
Het |
| Tmed4 |
T |
A |
11: 6,221,716 (GRCm39) |
I207F |
possibly damaging |
Het |
| Tmem248 |
A |
G |
5: 130,265,731 (GRCm39) |
E178G |
probably benign |
Het |
| Tomm40l |
G |
A |
1: 171,047,131 (GRCm39) |
R296* |
probably null |
Het |
| Trim80 |
C |
A |
11: 115,338,964 (GRCm39) |
T598N |
possibly damaging |
Het |
| Trim9 |
T |
C |
12: 70,295,047 (GRCm39) |
N688D |
probably damaging |
Het |
| Vil1 |
C |
T |
1: 74,460,425 (GRCm39) |
A194V |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,916,565 (GRCm39) |
M393L |
probably damaging |
Het |
| Vmn2r63 |
C |
T |
7: 42,577,544 (GRCm39) |
M331I |
probably benign |
Het |
| Vps33b |
G |
T |
7: 79,939,796 (GRCm39) |
A516S |
probably damaging |
Het |
| Zc3h6 |
G |
A |
2: 128,844,160 (GRCm39) |
G235R |
probably damaging |
Het |
| Zfp612 |
T |
A |
8: 110,815,304 (GRCm39) |
D170E |
probably benign |
Het |
| Zfp746 |
A |
G |
6: 48,041,490 (GRCm39) |
I412T |
probably benign |
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 |
|
|
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'- GAGGAGCGCATCATTTCTTCC -3'
Sequencing Primer
(F):5'- GTTTTCAgtggtggtgg -3'
(R):5'- TTCCTCAGGCTCGGTCATGG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation