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 |
80454733-80535119 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80502399 bp (GRCm38)
|
| 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: 48,036,914 (GRCm38) |
T194P |
possibly damaging |
Het |
| Aadacl4fm5 |
A |
T |
4: 144,779,725 (GRCm38) |
L132Q |
probably damaging |
Het |
| Acsbg2 |
T |
A |
17: 56,853,855 (GRCm38) |
K263M |
possibly damaging |
Het |
| Adcy8 |
C |
T |
15: 64,767,878 (GRCm38) |
G678S |
probably benign |
Het |
| Adgrl2 |
C |
T |
3: 148,826,475 (GRCm38) |
G1041R |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 9,013,181 (GRCm38) |
I3943T |
probably damaging |
Het |
| Aire |
T |
C |
10: 78,042,958 (GRCm38) |
D85G |
probably damaging |
Het |
| Alkbh8 |
C |
T |
9: 3,343,216 (GRCm38) |
Q36* |
probably null |
Het |
| Amer3 |
T |
C |
1: 34,579,444 (GRCm38) |
|
probably benign |
Het |
| Angptl8 |
T |
C |
9: 21,837,062 (GRCm38) |
|
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,885,141 (GRCm38) |
D482G |
probably benign |
Het |
| Apc |
A |
G |
18: 34,315,591 (GRCm38) |
I1813V |
probably damaging |
Het |
| Asb13 |
T |
G |
13: 3,649,512 (GRCm38) |
|
probably null |
Het |
| Cd163 |
G |
T |
6: 124,325,498 (GRCm38) |
W1007L |
probably damaging |
Het |
| Cdr1 |
A |
G |
X: 61,184,814 (GRCm38) |
F249L |
probably benign |
Het |
| Cp |
A |
G |
3: 19,987,434 (GRCm38) |
K44E |
probably benign |
Het |
| Crtap |
C |
A |
9: 114,381,585 (GRCm38) |
|
probably null |
Het |
| Ctsk |
A |
G |
3: 95,506,692 (GRCm38) |
D250G |
probably damaging |
Het |
| Dcp2 |
T |
C |
18: 44,410,296 (GRCm38) |
V307A |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,173,419 (GRCm38) |
D787V |
probably damaging |
Het |
| Dtx3l |
G |
A |
16: 35,936,427 (GRCm38) |
H129Y |
probably benign |
Het |
| Ece2 |
A |
G |
16: 20,642,317 (GRCm38) |
T442A |
probably benign |
Het |
| Espl1 |
C |
T |
15: 102,322,714 (GRCm38) |
R17* |
probably null |
Het |
| Espn |
G |
T |
4: 152,132,959 (GRCm38) |
|
probably null |
Het |
| Fam20b |
C |
T |
1: 156,705,941 (GRCm38) |
R35Q |
possibly damaging |
Het |
| Fga |
A |
G |
3: 83,032,757 (GRCm38) |
I573V |
probably damaging |
Het |
| Fmo5 |
A |
G |
3: 97,635,682 (GRCm38) |
K103E |
possibly damaging |
Het |
| Frem1 |
A |
T |
4: 83,005,852 (GRCm38) |
V291D |
probably damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,056,782 (GRCm38) |
|
probably null |
Het |
| Gjb6 |
T |
C |
14: 57,124,756 (GRCm38) |
H16R |
probably damaging |
Het |
| Grina |
T |
C |
15: 76,248,534 (GRCm38) |
V167A |
probably damaging |
Het |
| Gulo |
T |
A |
14: 66,009,047 (GRCm38) |
M1L |
probably benign |
Het |
| Hcfc2 |
A |
G |
10: 82,738,980 (GRCm38) |
N618D |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 78,814,184 (GRCm38) |
D704G |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 94,262,740 (GRCm38) |
V487A |
probably benign |
Het |
| Hps1 |
G |
A |
19: 42,762,512 (GRCm38) |
P350S |
probably benign |
Het |
| Hspa9 |
A |
T |
18: 34,946,648 (GRCm38) |
Y243N |
probably damaging |
Het |
| Igll1 |
A |
G |
16: 16,863,775 (GRCm38) |
S39P |
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,148,282 (GRCm38) |
F270L |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 87,089,151 (GRCm38) |
M380I |
probably null |
Het |
| Krt27 |
A |
G |
11: 99,349,492 (GRCm38) |
V200A |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,524,721 (GRCm38) |
|
probably benign |
Het |
| Lmcd1 |
T |
C |
6: 112,328,741 (GRCm38) |
W268R |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,981,062 (GRCm38) |
Y147H |
probably damaging |
Het |
| Mamdc4 |
T |
A |
2: 25,563,572 (GRCm38) |
D1195V |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,416,136 (GRCm38) |
V1395A |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,438,260 (GRCm38) |
T537M |
probably benign |
Het |
| Mdga1 |
A |
G |
17: 29,849,313 (GRCm38) |
S276P |
probably damaging |
Het |
| Mep1a |
T |
C |
17: 43,497,906 (GRCm38) |
N85D |
probably benign |
Het |
| Mettl16 |
A |
G |
11: 74,817,369 (GRCm38) |
S425G |
probably benign |
Het |
| Mthfd1l |
A |
G |
10: 4,047,894 (GRCm38) |
T622A |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,634,071 (GRCm38) |
L1309F |
probably benign |
Het |
| Nde1 |
A |
T |
16: 14,169,457 (GRCm38) |
|
probably benign |
Het |
| Nhsl1 |
A |
T |
10: 18,511,592 (GRCm38) |
R205W |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 94,525,510 (GRCm38) |
|
probably benign |
Het |
| Notch3 |
C |
A |
17: 32,158,000 (GRCm38) |
E310D |
probably benign |
Het |
| Or2f1 |
A |
G |
6: 42,744,850 (GRCm38) |
E271G |
probably damaging |
Het |
| Or4p19 |
T |
C |
2: 88,412,044 (GRCm38) |
T205A |
probably benign |
Het |
| Or5ak24 |
T |
A |
2: 85,430,352 (GRCm38) |
H159L |
possibly damaging |
Het |
| Or7a39 |
T |
C |
10: 78,879,388 (GRCm38) |
I72T |
possibly damaging |
Het |
| Osbpl5 |
C |
A |
7: 143,741,692 (GRCm38) |
C11F |
probably damaging |
Het |
| P4hb |
T |
C |
11: 120,562,696 (GRCm38) |
E381G |
probably damaging |
Het |
| Pax4 |
A |
G |
6: 28,446,210 (GRCm38) |
Y95H |
probably benign |
Het |
| Pdia3 |
T |
C |
2: 121,434,820 (GRCm38) |
V390A |
probably damaging |
Het |
| Pigv |
A |
C |
4: 133,662,723 (GRCm38) |
D49E |
possibly damaging |
Het |
| Pik3c2a |
T |
A |
7: 116,350,931 (GRCm38) |
|
probably null |
Het |
| Plxnb1 |
T |
A |
9: 109,106,619 (GRCm38) |
|
probably benign |
Het |
| Polq |
A |
G |
16: 37,078,366 (GRCm38) |
T2163A |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,025,853 (GRCm38) |
S305P |
probably benign |
Het |
| Ppm1h |
A |
T |
10: 122,920,725 (GRCm38) |
H425L |
possibly damaging |
Het |
| Ppp1r13b |
G |
T |
12: 111,833,788 (GRCm38) |
D518E |
probably benign |
Het |
| Prf1 |
A |
T |
10: 61,303,895 (GRCm38) |
D544V |
probably benign |
Het |
| Prl3b1 |
T |
C |
13: 27,247,965 (GRCm38) |
F158L |
probably benign |
Het |
| Prss41 |
C |
T |
17: 23,837,490 (GRCm38) |
|
probably null |
Het |
| Prune2 |
T |
G |
19: 17,120,523 (GRCm38) |
N1130K |
probably damaging |
Het |
| Ptgdr2 |
T |
C |
19: 10,940,425 (GRCm38) |
F102S |
probably damaging |
Het |
| Ptprq |
T |
G |
10: 107,667,422 (GRCm38) |
K792Q |
probably damaging |
Het |
| Pttg1ip2 |
T |
A |
5: 5,455,964 (GRCm38) |
I106L |
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,174,386 (GRCm38) |
|
probably benign |
Het |
| Rgs14 |
C |
A |
13: 55,383,700 (GRCm38) |
S479* |
probably null |
Het |
| Sash1 |
A |
T |
10: 8,729,413 (GRCm38) |
V1071D |
probably benign |
Het |
| Sdsl |
G |
A |
5: 120,463,153 (GRCm38) |
T18M |
probably damaging |
Het |
| Sepsecs |
T |
A |
5: 52,647,624 (GRCm38) |
Q365L |
probably benign |
Het |
| Sh2d4a |
A |
T |
8: 68,331,083 (GRCm38) |
Q223L |
probably damaging |
Het |
| Slc14a2 |
T |
C |
18: 78,150,386 (GRCm38) |
|
probably benign |
Het |
| Slc5a9 |
A |
C |
4: 111,896,349 (GRCm38) |
S52A |
possibly damaging |
Het |
| Slc6a18 |
C |
A |
13: 73,675,725 (GRCm38) |
V99L |
probably benign |
Het |
| Smarca2 |
T |
C |
19: 26,683,905 (GRCm38) |
S967P |
possibly damaging |
Het |
| Tbc1d22a |
C |
T |
15: 86,299,684 (GRCm38) |
T248M |
probably damaging |
Het |
| Tcte1 |
A |
T |
17: 45,541,311 (GRCm38) |
N490I |
probably benign |
Het |
| Tet3 |
T |
C |
6: 83,386,075 (GRCm38) |
E705G |
probably damaging |
Het |
| Tfeb |
T |
A |
17: 47,791,559 (GRCm38) |
H450Q |
probably damaging |
Het |
| Tmem248 |
G |
A |
5: 130,231,812 (GRCm38) |
E73K |
probably damaging |
Het |
| Trip12 |
A |
T |
1: 84,760,866 (GRCm38) |
L756* |
probably null |
Het |
| Try5 |
C |
T |
6: 41,314,651 (GRCm38) |
|
probably null |
Het |
| Tsc1 |
A |
T |
2: 28,665,637 (GRCm38) |
|
probably benign |
Het |
| Tspear |
G |
A |
10: 77,875,120 (GRCm38) |
|
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,576,217 (GRCm38) |
I134T |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,755,296 (GRCm38) |
|
probably null |
Het |
| Ube3b |
A |
G |
5: 114,411,149 (GRCm38) |
E738G |
probably damaging |
Het |
| Usp36 |
T |
C |
11: 118,262,508 (GRCm38) |
|
probably benign |
Het |
| Vmn2r71 |
T |
A |
7: 85,620,637 (GRCm38) |
M452K |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,607,142 (GRCm38) |
S1074P |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 145,108,508 (GRCm38) |
S2757P |
probably damaging |
Het |
| Vwde |
C |
A |
6: 13,208,338 (GRCm38) |
G182C |
possibly damaging |
Het |
| Wdr33 |
T |
C |
18: 31,833,599 (GRCm38) |
V164A |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,956,525 (GRCm38) |
Y269C |
possibly damaging |
Het |
| Zup1 |
A |
G |
10: 33,929,824 (GRCm38) |
V437A |
possibly damaging |
Het |
|
| Other mutations in Blm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01531:Blm
|
APN |
7 |
80,474,071 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01658:Blm
|
APN |
7 |
80,463,941 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02048:Blm
|
APN |
7 |
80,502,961 (GRCm38) |
splice site |
probably benign |
|
|
IGL02060:Blm
|
APN |
7 |
80,514,580 (GRCm38) |
splice site |
probably benign |
|
|
IGL02063:Blm
|
APN |
7 |
80,509,419 (GRCm38) |
nonsense |
probably null |
|
|
IGL02102:Blm
|
APN |
7 |
80,469,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02420:Blm
|
APN |
7 |
80,496,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02452:Blm
|
APN |
7 |
80,503,377 (GRCm38) |
splice site |
probably null |
|
|
IGL02566:Blm
|
APN |
7 |
80,474,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03387:Blm
|
APN |
7 |
80,494,147 (GRCm38) |
missense |
probably damaging |
1.00 |
|
FR4304:Blm
|
UTSW |
7 |
80,512,919 (GRCm38) |
small insertion |
probably benign |
|
|
FR4304:Blm
|
UTSW |
7 |
80,463,773 (GRCm38) |
frame shift |
probably null |
|
|
FR4340:Blm
|
UTSW |
7 |
80,512,910 (GRCm38) |
small insertion |
probably benign |
|
|
FR4340:Blm
|
UTSW |
7 |
80,512,907 (GRCm38) |
small insertion |
probably benign |
|
|
FR4340:Blm
|
UTSW |
7 |
80,463,767 (GRCm38) |
unclassified |
probably benign |
|
|
FR4449:Blm
|
UTSW |
7 |
80,512,908 (GRCm38) |
small insertion |
probably benign |
|
|
FR4548:Blm
|
UTSW |
7 |
80,463,769 (GRCm38) |
frame shift |
probably null |
|
|
FR4589:Blm
|
UTSW |
7 |
80,463,770 (GRCm38) |
frame shift |
probably null |
|
|
FR4737:Blm
|
UTSW |
7 |
80,463,774 (GRCm38) |
frame shift |
probably null |
|
|
FR4737:Blm
|
UTSW |
7 |
80,463,771 (GRCm38) |
frame shift |
probably null |
|
|
FR4976:Blm
|
UTSW |
7 |
80,512,907 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:Blm
|
UTSW |
7 |
80,463,767 (GRCm38) |
unclassified |
probably benign |
|
|
R0133:Blm
|
UTSW |
7 |
80,502,367 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0194:Blm
|
UTSW |
7 |
80,464,946 (GRCm38) |
unclassified |
probably benign |
|
|
R0526:Blm
|
UTSW |
7 |
80,505,893 (GRCm38) |
nonsense |
probably null |
|
|
R0673:Blm
|
UTSW |
7 |
80,499,751 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0972:Blm
|
UTSW |
7 |
80,513,370 (GRCm38) |
missense |
probably benign |
|
|
R0980:Blm
|
UTSW |
7 |
80,499,958 (GRCm38) |
splice site |
probably null |
|
|
R1120:Blm
|
UTSW |
7 |
80,481,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1301:Blm
|
UTSW |
7 |
80,455,417 (GRCm38) |
nonsense |
probably null |
|
|
R1769:Blm
|
UTSW |
7 |
80,513,370 (GRCm38) |
missense |
probably benign |
|
|
R1866:Blm
|
UTSW |
7 |
80,494,114 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1874:Blm
|
UTSW |
7 |
80,497,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1966:Blm
|
UTSW |
7 |
80,513,186 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1991:Blm
|
UTSW |
7 |
80,505,949 (GRCm38) |
splice site |
probably null |
|
|
R2013:Blm
|
UTSW |
7 |
80,502,399 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2015:Blm
|
UTSW |
7 |
80,502,399 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2016:Blm
|
UTSW |
7 |
80,505,926 (GRCm38) |
missense |
probably benign |
0.26 |
|
R2103:Blm
|
UTSW |
7 |
80,505,949 (GRCm38) |
splice site |
probably null |
|
|
R2161:Blm
|
UTSW |
7 |
80,481,370 (GRCm38) |
splice site |
probably null |
|
|
R2215:Blm
|
UTSW |
7 |
80,499,847 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R3689:Blm
|
UTSW |
7 |
80,513,079 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R4049:Blm
|
UTSW |
7 |
80,502,862 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4155:Blm
|
UTSW |
7 |
80,512,904 (GRCm38) |
small deletion |
probably benign |
|
|
R4695:Blm
|
UTSW |
7 |
80,494,228 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4774:Blm
|
UTSW |
7 |
80,463,848 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4833:Blm
|
UTSW |
7 |
80,466,826 (GRCm38) |
missense |
probably benign |
|
|
R4835:Blm
|
UTSW |
7 |
80,509,546 (GRCm38) |
missense |
probably benign |
0.41 |
|
R4994:Blm
|
UTSW |
7 |
80,458,825 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5039:Blm
|
UTSW |
7 |
80,505,873 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R5330:Blm
|
UTSW |
7 |
80,458,936 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R5375:Blm
|
UTSW |
7 |
80,513,229 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5408:Blm
|
UTSW |
7 |
80,502,622 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5574:Blm
|
UTSW |
7 |
80,499,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5606:Blm
|
UTSW |
7 |
80,460,832 (GRCm38) |
splice site |
probably null |
|
|
R5702:Blm
|
UTSW |
7 |
80,458,927 (GRCm38) |
missense |
probably benign |
0.13 |
|
R5809:Blm
|
UTSW |
7 |
80,464,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6114:Blm
|
UTSW |
7 |
80,513,487 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6157:Blm
|
UTSW |
7 |
80,512,985 (GRCm38) |
missense |
probably benign |
0.18 |
|
R6163:Blm
|
UTSW |
7 |
80,512,904 (GRCm38) |
small deletion |
probably benign |
|
|
R6254:Blm
|
UTSW |
7 |
80,480,342 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6266:Blm
|
UTSW |
7 |
80,499,940 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6364:Blm
|
UTSW |
7 |
80,494,526 (GRCm38) |
nonsense |
probably null |
|
|
R6446:Blm
|
UTSW |
7 |
80,512,904 (GRCm38) |
small deletion |
probably benign |
|
|
R6502:Blm
|
UTSW |
7 |
80,481,475 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6700:Blm
|
UTSW |
7 |
80,463,850 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7002:Blm
|
UTSW |
7 |
80,469,753 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7105:Blm
|
UTSW |
7 |
80,499,768 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7320:Blm
|
UTSW |
7 |
80,455,354 (GRCm38) |
nonsense |
probably null |
|
|
R7465:Blm
|
UTSW |
7 |
80,513,115 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7561:Blm
|
UTSW |
7 |
80,502,528 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8500:Blm
|
UTSW |
7 |
80,455,284 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8543:Blm
|
UTSW |
7 |
80,494,216 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,512,907 (GRCm38) |
small insertion |
probably benign |
|
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,512,918 (GRCm38) |
small insertion |
probably benign |
|
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,512,919 (GRCm38) |
small insertion |
probably benign |
|
|
R8775-TAIL:Blm
|
UTSW |
7 |
80,512,931 (GRCm38) |
small insertion |
probably benign |
|
|
R8860:Blm
|
UTSW |
7 |
80,494,528 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8928:Blm
|
UTSW |
7 |
80,512,904 (GRCm38) |
small deletion |
probably benign |
|
|
R9089:Blm
|
UTSW |
7 |
80,513,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9363:Blm
|
UTSW |
7 |
80,458,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF001:Blm
|
UTSW |
7 |
80,512,927 (GRCm38) |
small insertion |
probably benign |
|
|
RF001:Blm
|
UTSW |
7 |
80,512,906 (GRCm38) |
small insertion |
probably benign |
|
|
RF001:Blm
|
UTSW |
7 |
80,512,903 (GRCm38) |
small insertion |
probably benign |
|
|
RF002:Blm
|
UTSW |
7 |
80,512,927 (GRCm38) |
small insertion |
probably benign |
|
|
RF002:Blm
|
UTSW |
7 |
80,512,905 (GRCm38) |
small insertion |
probably benign |
|
|
RF007:Blm
|
UTSW |
7 |
80,512,933 (GRCm38) |
nonsense |
probably null |
|
|
RF016:Blm
|
UTSW |
7 |
80,512,926 (GRCm38) |
nonsense |
probably null |
|
|
RF018:Blm
|
UTSW |
7 |
80,512,926 (GRCm38) |
nonsense |
probably null |
|
|
RF027:Blm
|
UTSW |
7 |
80,512,914 (GRCm38) |
frame shift |
probably null |
|
|
RF028:Blm
|
UTSW |
7 |
80,512,905 (GRCm38) |
nonsense |
probably null |
|
|
RF031:Blm
|
UTSW |
7 |
80,512,923 (GRCm38) |
small insertion |
probably benign |
|
|
RF031:Blm
|
UTSW |
7 |
80,512,906 (GRCm38) |
small insertion |
probably benign |
|
|
RF032:Blm
|
UTSW |
7 |
80,512,930 (GRCm38) |
small insertion |
probably benign |
|
|
RF036:Blm
|
UTSW |
7 |
80,512,914 (GRCm38) |
nonsense |
probably null |
|
|
RF044:Blm
|
UTSW |
7 |
80,512,930 (GRCm38) |
small insertion |
probably benign |
|
|
RF053:Blm
|
UTSW |
7 |
80,512,921 (GRCm38) |
small insertion |
probably benign |
|
|
RF064:Blm
|
UTSW |
7 |
80,512,923 (GRCm38) |
nonsense |
probably null |
|
|
X0061:Blm
|
UTSW |
7 |
80,458,850 (GRCm38) |
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 |
Incidental Mutation