Incidental Mutation 'R2014:Blm'
ID |
222571 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Blm
|
Ensembl Gene |
ENSMUSG00000030528 |
Gene Name |
Bloom syndrome, RecQ like helicase |
Synonyms |
|
MMRRC Submission |
040023-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2014 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
80104741-80184896 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80152147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 600
(E600G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127995
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081314]
[ENSMUST00000170315]
|
AlphaFold |
O88700 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081314
AA Change: E597G
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000080062 Gene: ENSMUSG00000030528 AA Change: E597G
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
low complexity region
|
118 |
132 |
N/A |
INTRINSIC |
low complexity region
|
142 |
169 |
N/A |
INTRINSIC |
low complexity region
|
219 |
231 |
N/A |
INTRINSIC |
low complexity region
|
318 |
335 |
N/A |
INTRINSIC |
Pfam:BDHCT
|
376 |
416 |
5.5e-27 |
PFAM |
low complexity region
|
557 |
574 |
N/A |
INTRINSIC |
DEXDc
|
672 |
873 |
1.59e-29 |
SMART |
HELICc
|
910 |
992 |
1.29e-24 |
SMART |
RQC
|
1084 |
1198 |
1.43e-15 |
SMART |
HRDC
|
1217 |
1297 |
9.4e-20 |
SMART |
low complexity region
|
1357 |
1371 |
N/A |
INTRINSIC |
low complexity region
|
1378 |
1392 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170315
AA Change: E600G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000127995 Gene: ENSMUSG00000030528 AA Change: E600G
Domain | Start | End | E-Value | Type |
Pfam:BLM_N
|
4 |
375 |
1.1e-161 |
PFAM |
Pfam:BDHCT
|
380 |
419 |
6.4e-25 |
PFAM |
Pfam:BDHCT_assoc
|
433 |
658 |
8.8e-108 |
PFAM |
DEXDc
|
675 |
876 |
1.59e-29 |
SMART |
HELICc
|
913 |
995 |
1.29e-24 |
SMART |
Pfam:RecQ_Zn_bind
|
1006 |
1078 |
1.5e-19 |
PFAM |
RQC
|
1087 |
1201 |
1.43e-15 |
SMART |
HRDC
|
1220 |
1300 |
9.4e-20 |
SMART |
low complexity region
|
1360 |
1374 |
N/A |
INTRINSIC |
low complexity region
|
1381 |
1395 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205263
|
Meta Mutation Damage Score |
0.1709 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
96% (105/109) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mutants are developmentally delayed, with increased apopotosis in the epiblast and severe anemia, dying at embyronic day 13.5; but homozygotes for a cre mediated recombinant allele are viable Bloom syndrome-like mice prone to a wide variety of cancers and showing increased rates of LOH. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 108 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
T |
G |
17: 48,347,723 (GRCm39) |
T194P |
possibly damaging |
Het |
Aadacl4fm5 |
A |
T |
4: 144,506,295 (GRCm39) |
L132Q |
probably damaging |
Het |
Acsbg2 |
T |
A |
17: 57,160,855 (GRCm39) |
K263M |
possibly damaging |
Het |
Adcy8 |
C |
T |
15: 64,639,727 (GRCm39) |
G678S |
probably benign |
Het |
Adgrl2 |
C |
T |
3: 148,532,111 (GRCm39) |
G1041R |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,990,545 (GRCm39) |
I3943T |
probably damaging |
Het |
Aire |
T |
C |
10: 77,878,792 (GRCm39) |
D85G |
probably damaging |
Het |
Alkbh8 |
C |
T |
9: 3,343,216 (GRCm39) |
Q36* |
probably null |
Het |
Amer3 |
T |
C |
1: 34,618,525 (GRCm39) |
|
probably benign |
Het |
Angptl8 |
T |
C |
9: 21,748,358 (GRCm39) |
|
probably null |
Het |
Ankmy1 |
T |
C |
1: 92,812,863 (GRCm39) |
D482G |
probably benign |
Het |
Apc |
A |
G |
18: 34,448,644 (GRCm39) |
I1813V |
probably damaging |
Het |
Asb13 |
T |
G |
13: 3,699,512 (GRCm39) |
|
probably null |
Het |
Cd163 |
G |
T |
6: 124,302,457 (GRCm39) |
W1007L |
probably damaging |
Het |
Cdr1 |
A |
G |
X: 60,228,420 (GRCm39) |
F249L |
probably benign |
Het |
Cp |
A |
G |
3: 20,041,598 (GRCm39) |
K44E |
probably benign |
Het |
Crtap |
C |
A |
9: 114,210,653 (GRCm39) |
|
probably null |
Het |
Ctsk |
A |
G |
3: 95,414,003 (GRCm39) |
D250G |
probably damaging |
Het |
Dcp2 |
T |
C |
18: 44,543,363 (GRCm39) |
V307A |
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,150,402 (GRCm39) |
D787V |
probably damaging |
Het |
Dtx3l |
G |
A |
16: 35,756,797 (GRCm39) |
H129Y |
probably benign |
Het |
Ece2 |
A |
G |
16: 20,461,067 (GRCm39) |
T442A |
probably benign |
Het |
Espl1 |
C |
T |
15: 102,231,149 (GRCm39) |
R17* |
probably null |
Het |
Espn |
G |
T |
4: 152,217,416 (GRCm39) |
|
probably null |
Het |
Fam20b |
C |
T |
1: 156,533,511 (GRCm39) |
R35Q |
possibly damaging |
Het |
Fga |
A |
G |
3: 82,940,064 (GRCm39) |
I573V |
probably damaging |
Het |
Fmo5 |
A |
G |
3: 97,542,998 (GRCm39) |
K103E |
possibly damaging |
Het |
Frem1 |
A |
T |
4: 82,924,089 (GRCm39) |
V291D |
probably damaging |
Het |
Gabbr1 |
A |
G |
17: 37,367,674 (GRCm39) |
|
probably null |
Het |
Gjb6 |
T |
C |
14: 57,362,213 (GRCm39) |
H16R |
probably damaging |
Het |
Grina |
T |
C |
15: 76,132,734 (GRCm39) |
V167A |
probably damaging |
Het |
Gulo |
T |
A |
14: 66,246,496 (GRCm39) |
M1L |
probably benign |
Het |
Hcfc2 |
A |
G |
10: 82,574,814 (GRCm39) |
N618D |
probably benign |
Het |
Heatr5b |
T |
C |
17: 79,121,613 (GRCm39) |
D704G |
probably damaging |
Het |
Hlcs |
A |
G |
16: 94,063,599 (GRCm39) |
V487A |
probably benign |
Het |
Hps1 |
G |
A |
19: 42,750,951 (GRCm39) |
P350S |
probably benign |
Het |
Hspa9 |
A |
T |
18: 35,079,701 (GRCm39) |
Y243N |
probably damaging |
Het |
Igll1 |
A |
G |
16: 16,681,639 (GRCm39) |
S39P |
probably benign |
Het |
Kif21b |
T |
C |
1: 136,076,020 (GRCm39) |
F270L |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Krt27 |
A |
G |
11: 99,240,318 (GRCm39) |
V200A |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,657,778 (GRCm39) |
|
probably benign |
Het |
Lmcd1 |
T |
C |
6: 112,305,702 (GRCm39) |
W268R |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Mamdc4 |
T |
A |
2: 25,453,584 (GRCm39) |
D1195V |
probably damaging |
Het |
Map2 |
T |
C |
1: 66,455,295 (GRCm39) |
V1395A |
possibly damaging |
Het |
Map3k20 |
C |
T |
2: 72,268,604 (GRCm39) |
T537M |
probably benign |
Het |
Mdga1 |
A |
G |
17: 30,068,287 (GRCm39) |
S276P |
probably damaging |
Het |
Mep1a |
T |
C |
17: 43,808,797 (GRCm39) |
N85D |
probably benign |
Het |
Mettl16 |
A |
G |
11: 74,708,195 (GRCm39) |
S425G |
probably benign |
Het |
Mthfd1l |
A |
G |
10: 3,997,894 (GRCm39) |
T622A |
probably benign |
Het |
Nbeal2 |
G |
A |
9: 110,463,139 (GRCm39) |
L1309F |
probably benign |
Het |
Nde1 |
A |
T |
16: 13,987,321 (GRCm39) |
|
probably benign |
Het |
Nhsl1 |
A |
T |
10: 18,387,340 (GRCm39) |
R205W |
probably damaging |
Het |
Nlrc5 |
A |
G |
8: 95,252,138 (GRCm39) |
|
probably benign |
Het |
Notch3 |
C |
A |
17: 32,376,974 (GRCm39) |
E310D |
probably benign |
Het |
Or2f1 |
A |
G |
6: 42,721,784 (GRCm39) |
E271G |
probably damaging |
Het |
Or4p19 |
T |
C |
2: 88,242,388 (GRCm39) |
T205A |
probably benign |
Het |
Or5ak24 |
T |
A |
2: 85,260,696 (GRCm39) |
H159L |
possibly damaging |
Het |
Or7a39 |
T |
C |
10: 78,715,222 (GRCm39) |
I72T |
possibly damaging |
Het |
Osbpl5 |
C |
A |
7: 143,295,429 (GRCm39) |
C11F |
probably damaging |
Het |
P4hb |
T |
C |
11: 120,453,522 (GRCm39) |
E381G |
probably damaging |
Het |
Pax4 |
A |
G |
6: 28,446,209 (GRCm39) |
Y95H |
probably benign |
Het |
Pdia3 |
T |
C |
2: 121,265,301 (GRCm39) |
V390A |
probably damaging |
Het |
Pigv |
A |
C |
4: 133,390,034 (GRCm39) |
D49E |
possibly damaging |
Het |
Pik3c2a |
T |
A |
7: 115,950,166 (GRCm39) |
|
probably null |
Het |
Plxnb1 |
T |
A |
9: 108,935,687 (GRCm39) |
|
probably benign |
Het |
Polq |
A |
G |
16: 36,898,728 (GRCm39) |
T2163A |
probably damaging |
Het |
Pou5f2 |
T |
C |
13: 78,173,972 (GRCm39) |
S305P |
probably benign |
Het |
Ppm1h |
A |
T |
10: 122,756,630 (GRCm39) |
H425L |
possibly damaging |
Het |
Ppp1r13b |
G |
T |
12: 111,800,222 (GRCm39) |
D518E |
probably benign |
Het |
Prf1 |
A |
T |
10: 61,139,674 (GRCm39) |
D544V |
probably benign |
Het |
Prl3b1 |
T |
C |
13: 27,431,948 (GRCm39) |
F158L |
probably benign |
Het |
Prss41 |
C |
T |
17: 24,056,464 (GRCm39) |
|
probably null |
Het |
Prune2 |
T |
G |
19: 17,097,887 (GRCm39) |
N1130K |
probably damaging |
Het |
Ptgdr2 |
T |
C |
19: 10,917,789 (GRCm39) |
F102S |
probably damaging |
Het |
Ptprq |
T |
G |
10: 107,503,283 (GRCm39) |
K792Q |
probably damaging |
Het |
Pttg1ip2 |
T |
A |
5: 5,505,964 (GRCm39) |
I106L |
probably benign |
Het |
Rcbtb2 |
T |
C |
14: 73,411,826 (GRCm39) |
|
probably benign |
Het |
Rgs14 |
C |
A |
13: 55,531,513 (GRCm39) |
S479* |
probably null |
Het |
Sash1 |
A |
T |
10: 8,605,177 (GRCm39) |
V1071D |
probably benign |
Het |
Sdsl |
G |
A |
5: 120,601,218 (GRCm39) |
T18M |
probably damaging |
Het |
Sepsecs |
T |
A |
5: 52,804,966 (GRCm39) |
Q365L |
probably benign |
Het |
Sh2d4a |
A |
T |
8: 68,783,735 (GRCm39) |
Q223L |
probably damaging |
Het |
Slc14a2 |
T |
C |
18: 78,193,601 (GRCm39) |
|
probably benign |
Het |
Slc5a9 |
A |
C |
4: 111,753,546 (GRCm39) |
S52A |
possibly damaging |
Het |
Slc6a18 |
C |
A |
13: 73,823,844 (GRCm39) |
V99L |
probably benign |
Het |
Smarca2 |
T |
C |
19: 26,661,305 (GRCm39) |
S967P |
possibly damaging |
Het |
Tbc1d22a |
C |
T |
15: 86,183,885 (GRCm39) |
T248M |
probably damaging |
Het |
Tcte1 |
A |
T |
17: 45,852,237 (GRCm39) |
N490I |
probably benign |
Het |
Tet3 |
T |
C |
6: 83,363,057 (GRCm39) |
E705G |
probably damaging |
Het |
Tfeb |
T |
A |
17: 48,102,484 (GRCm39) |
H450Q |
probably damaging |
Het |
Tmem248 |
G |
A |
5: 130,260,653 (GRCm39) |
E73K |
probably damaging |
Het |
Trip12 |
A |
T |
1: 84,738,587 (GRCm39) |
L756* |
probably null |
Het |
Try5 |
C |
T |
6: 41,291,585 (GRCm39) |
|
probably null |
Het |
Tsc1 |
A |
T |
2: 28,555,649 (GRCm39) |
|
probably benign |
Het |
Tspear |
G |
A |
10: 77,710,954 (GRCm39) |
|
probably benign |
Het |
Ttc6 |
T |
C |
12: 57,623,003 (GRCm39) |
I134T |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,585,640 (GRCm39) |
|
probably null |
Het |
Ube3b |
A |
G |
5: 114,549,210 (GRCm39) |
E738G |
probably damaging |
Het |
Usp36 |
T |
C |
11: 118,153,334 (GRCm39) |
|
probably benign |
Het |
Vmn2r71 |
T |
A |
7: 85,269,845 (GRCm39) |
M452K |
probably benign |
Het |
Vps13b |
T |
C |
15: 35,607,288 (GRCm39) |
S1074P |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,835,078 (GRCm39) |
S2757P |
probably damaging |
Het |
Vwde |
C |
A |
6: 13,208,337 (GRCm39) |
G182C |
possibly damaging |
Het |
Wdr33 |
T |
C |
18: 31,966,652 (GRCm39) |
V164A |
probably damaging |
Het |
Zkscan16 |
A |
G |
4: 58,956,525 (GRCm39) |
Y269C |
possibly damaging |
Het |
Zup1 |
A |
G |
10: 33,805,820 (GRCm39) |
V437A |
possibly damaging |
Het |
|
Other mutations in Blm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01531:Blm
|
APN |
7 |
80,123,819 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01658:Blm
|
APN |
7 |
80,113,689 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02048:Blm
|
APN |
7 |
80,152,709 (GRCm39) |
splice site |
probably benign |
|
IGL02060:Blm
|
APN |
7 |
80,164,328 (GRCm39) |
splice site |
probably benign |
|
IGL02063:Blm
|
APN |
7 |
80,159,167 (GRCm39) |
nonsense |
probably null |
|
IGL02102:Blm
|
APN |
7 |
80,119,504 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02420:Blm
|
APN |
7 |
80,145,754 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02452:Blm
|
APN |
7 |
80,153,125 (GRCm39) |
splice site |
probably null |
|
IGL02566:Blm
|
APN |
7 |
80,123,944 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03387:Blm
|
APN |
7 |
80,143,895 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4304:Blm
|
UTSW |
7 |
80,162,667 (GRCm39) |
small insertion |
probably benign |
|
FR4304:Blm
|
UTSW |
7 |
80,113,521 (GRCm39) |
frame shift |
probably null |
|
FR4340:Blm
|
UTSW |
7 |
80,162,658 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Blm
|
UTSW |
7 |
80,113,515 (GRCm39) |
unclassified |
probably benign |
|
FR4449:Blm
|
UTSW |
7 |
80,162,656 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Blm
|
UTSW |
7 |
80,113,517 (GRCm39) |
frame shift |
probably null |
|
FR4589:Blm
|
UTSW |
7 |
80,113,518 (GRCm39) |
frame shift |
probably null |
|
FR4737:Blm
|
UTSW |
7 |
80,113,522 (GRCm39) |
frame shift |
probably null |
|
FR4737:Blm
|
UTSW |
7 |
80,113,519 (GRCm39) |
frame shift |
probably null |
|
FR4976:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Blm
|
UTSW |
7 |
80,113,515 (GRCm39) |
unclassified |
probably benign |
|
R0133:Blm
|
UTSW |
7 |
80,152,115 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0194:Blm
|
UTSW |
7 |
80,114,694 (GRCm39) |
unclassified |
probably benign |
|
R0526:Blm
|
UTSW |
7 |
80,155,641 (GRCm39) |
nonsense |
probably null |
|
R0673:Blm
|
UTSW |
7 |
80,149,499 (GRCm39) |
critical splice donor site |
probably null |
|
R0972:Blm
|
UTSW |
7 |
80,163,118 (GRCm39) |
missense |
probably benign |
|
R0980:Blm
|
UTSW |
7 |
80,149,706 (GRCm39) |
splice site |
probably null |
|
R1120:Blm
|
UTSW |
7 |
80,131,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R1301:Blm
|
UTSW |
7 |
80,105,165 (GRCm39) |
nonsense |
probably null |
|
R1769:Blm
|
UTSW |
7 |
80,163,118 (GRCm39) |
missense |
probably benign |
|
R1866:Blm
|
UTSW |
7 |
80,143,862 (GRCm39) |
missense |
probably benign |
0.08 |
R1874:Blm
|
UTSW |
7 |
80,147,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R1966:Blm
|
UTSW |
7 |
80,162,934 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1991:Blm
|
UTSW |
7 |
80,155,697 (GRCm39) |
splice site |
probably null |
|
R2013:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R2015:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R2016:Blm
|
UTSW |
7 |
80,155,674 (GRCm39) |
missense |
probably benign |
0.26 |
R2103:Blm
|
UTSW |
7 |
80,155,697 (GRCm39) |
splice site |
probably null |
|
R2161:Blm
|
UTSW |
7 |
80,131,118 (GRCm39) |
splice site |
probably null |
|
R2215:Blm
|
UTSW |
7 |
80,149,595 (GRCm39) |
missense |
possibly damaging |
0.69 |
R3689:Blm
|
UTSW |
7 |
80,162,827 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4049:Blm
|
UTSW |
7 |
80,152,610 (GRCm39) |
missense |
probably benign |
0.04 |
R4155:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R4695:Blm
|
UTSW |
7 |
80,143,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R4774:Blm
|
UTSW |
7 |
80,113,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R4833:Blm
|
UTSW |
7 |
80,116,574 (GRCm39) |
missense |
probably benign |
|
R4835:Blm
|
UTSW |
7 |
80,159,294 (GRCm39) |
missense |
probably benign |
0.41 |
R4994:Blm
|
UTSW |
7 |
80,108,573 (GRCm39) |
missense |
probably benign |
0.00 |
R5039:Blm
|
UTSW |
7 |
80,155,621 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5330:Blm
|
UTSW |
7 |
80,108,684 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5375:Blm
|
UTSW |
7 |
80,162,977 (GRCm39) |
missense |
probably benign |
0.00 |
R5408:Blm
|
UTSW |
7 |
80,152,370 (GRCm39) |
missense |
probably benign |
0.01 |
R5574:Blm
|
UTSW |
7 |
80,149,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R5606:Blm
|
UTSW |
7 |
80,110,580 (GRCm39) |
splice site |
probably null |
|
R5702:Blm
|
UTSW |
7 |
80,108,675 (GRCm39) |
missense |
probably benign |
0.13 |
R5809:Blm
|
UTSW |
7 |
80,114,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R6114:Blm
|
UTSW |
7 |
80,163,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R6157:Blm
|
UTSW |
7 |
80,162,733 (GRCm39) |
missense |
probably benign |
0.18 |
R6163:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R6254:Blm
|
UTSW |
7 |
80,130,090 (GRCm39) |
missense |
probably benign |
0.04 |
R6266:Blm
|
UTSW |
7 |
80,149,688 (GRCm39) |
missense |
probably benign |
0.03 |
R6364:Blm
|
UTSW |
7 |
80,144,274 (GRCm39) |
nonsense |
probably null |
|
R6446:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R6502:Blm
|
UTSW |
7 |
80,131,223 (GRCm39) |
missense |
probably damaging |
0.98 |
R6700:Blm
|
UTSW |
7 |
80,113,598 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7002:Blm
|
UTSW |
7 |
80,119,501 (GRCm39) |
missense |
probably benign |
0.00 |
R7105:Blm
|
UTSW |
7 |
80,149,516 (GRCm39) |
missense |
probably benign |
0.44 |
R7320:Blm
|
UTSW |
7 |
80,105,102 (GRCm39) |
nonsense |
probably null |
|
R7465:Blm
|
UTSW |
7 |
80,162,863 (GRCm39) |
missense |
probably benign |
0.02 |
R7561:Blm
|
UTSW |
7 |
80,152,276 (GRCm39) |
missense |
probably damaging |
0.99 |
R8500:Blm
|
UTSW |
7 |
80,105,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R8543:Blm
|
UTSW |
7 |
80,143,964 (GRCm39) |
missense |
probably damaging |
0.98 |
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,666 (GRCm39) |
small insertion |
probably benign |
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,667 (GRCm39) |
small insertion |
probably benign |
|
R8775-TAIL:Blm
|
UTSW |
7 |
80,162,679 (GRCm39) |
small insertion |
probably benign |
|
R8860:Blm
|
UTSW |
7 |
80,144,276 (GRCm39) |
missense |
probably benign |
0.30 |
R8928:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R9089:Blm
|
UTSW |
7 |
80,162,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R9363:Blm
|
UTSW |
7 |
80,108,663 (GRCm39) |
missense |
probably damaging |
1.00 |
RF001:Blm
|
UTSW |
7 |
80,162,675 (GRCm39) |
small insertion |
probably benign |
|
RF001:Blm
|
UTSW |
7 |
80,162,654 (GRCm39) |
small insertion |
probably benign |
|
RF001:Blm
|
UTSW |
7 |
80,162,651 (GRCm39) |
small insertion |
probably benign |
|
RF002:Blm
|
UTSW |
7 |
80,162,675 (GRCm39) |
small insertion |
probably benign |
|
RF002:Blm
|
UTSW |
7 |
80,162,653 (GRCm39) |
small insertion |
probably benign |
|
RF007:Blm
|
UTSW |
7 |
80,162,681 (GRCm39) |
nonsense |
probably null |
|
RF016:Blm
|
UTSW |
7 |
80,162,674 (GRCm39) |
nonsense |
probably null |
|
RF018:Blm
|
UTSW |
7 |
80,162,674 (GRCm39) |
nonsense |
probably null |
|
RF027:Blm
|
UTSW |
7 |
80,162,662 (GRCm39) |
frame shift |
probably null |
|
RF028:Blm
|
UTSW |
7 |
80,162,653 (GRCm39) |
nonsense |
probably null |
|
RF031:Blm
|
UTSW |
7 |
80,162,671 (GRCm39) |
small insertion |
probably benign |
|
RF031:Blm
|
UTSW |
7 |
80,162,654 (GRCm39) |
small insertion |
probably benign |
|
RF032:Blm
|
UTSW |
7 |
80,162,678 (GRCm39) |
small insertion |
probably benign |
|
RF036:Blm
|
UTSW |
7 |
80,162,662 (GRCm39) |
nonsense |
probably null |
|
RF044:Blm
|
UTSW |
7 |
80,162,678 (GRCm39) |
small insertion |
probably benign |
|
RF053:Blm
|
UTSW |
7 |
80,162,669 (GRCm39) |
small insertion |
probably benign |
|
RF064:Blm
|
UTSW |
7 |
80,162,671 (GRCm39) |
nonsense |
probably null |
|
X0061:Blm
|
UTSW |
7 |
80,108,598 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATGTAGCGCTCAGGCAATG -3'
(R):5'- AAGCTCAGAGTAAACAAGCTGC -3'
Sequencing Primer
(F):5'- GACTGCTGCTATGCTATACAAC -3'
(R):5'- CTCAGAGTAAACAAGCTGCTTCAGG -3'
|
Posted On |
2014-08-25 |