Incidental Mutation 'R6163:Blm'
| ID |
489970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blm
|
| Ensembl Gene |
ENSMUSG00000030528 |
| Gene Name |
Bloom syndrome, RecQ like helicase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6163 (G1)
|
| Quality Score |
102.467 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80454733-80535119 bp(-) (GRCm38) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC to GCCTCCTCCTCCTCCTCCTCCTCCTCC
at 80512904 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081314]
[ENSMUST00000170315]
|
| AlphaFold |
O88700 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081314
|
| SMART Domains |
Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
| 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 |
noncoding transcript
Transcript: ENSMUST00000166096
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170315
|
| SMART Domains |
Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.5%
|
| Validation Efficiency |
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
T |
5: 145,045,288 (GRCm38) |
Q228* |
probably null |
Het |
| 4922502D21Rik |
C |
T |
6: 129,326,747 (GRCm38) |
R85H |
probably benign |
Het |
| Asic5 |
A |
G |
3: 82,006,526 (GRCm38) |
N169S |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 4,954,593 (GRCm38) |
L374H |
probably benign |
Het |
| BC080695 |
A |
G |
4: 143,572,035 (GRCm38) |
K183E |
probably damaging |
Het |
| Birc2 |
G |
A |
9: 7,819,035 (GRCm38) |
T544I |
probably benign |
Het |
| Cc2d2b |
C |
T |
19: 40,756,506 (GRCm38) |
T23I |
probably benign |
Het |
| Ccdc137 |
G |
T |
11: 120,460,101 (GRCm38) |
R108L |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 135,269,003 (GRCm38) |
I2308T |
probably damaging |
Het |
| Cpt1b |
T |
C |
15: 89,424,417 (GRCm38) |
T103A |
probably benign |
Het |
| Cpvl |
C |
A |
6: 53,873,518 (GRCm38) |
V445F |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,434,951 (GRCm38) |
S303P |
possibly damaging |
Het |
| Cyp17a1 |
T |
A |
19: 46,669,322 (GRCm38) |
I264F |
possibly damaging |
Het |
| Cyp51 |
T |
A |
5: 4,100,199 (GRCm38) |
I175F |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,805,591 (GRCm38) |
P695S |
possibly damaging |
Het |
| Dlgap2 |
A |
T |
8: 14,846,641 (GRCm38) |
Q1039L |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,666,361 (GRCm38) |
L1694P |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,520,903 (GRCm38) |
Q298* |
probably null |
Het |
| Dsg2 |
G |
T |
18: 20,598,669 (GRCm38) |
|
probably null |
Het |
| Esr2 |
A |
C |
12: 76,121,869 (GRCm38) |
V522G |
probably damaging |
Het |
| Fmo9 |
T |
A |
1: 166,667,393 (GRCm38) |
H262L |
probably benign |
Het |
| Glb1l |
T |
A |
1: 75,201,407 (GRCm38) |
M373L |
probably benign |
Het |
| Gls |
A |
G |
1: 52,215,576 (GRCm38) |
S247P |
probably benign |
Het |
| Gm37240 |
T |
A |
3: 84,515,785 (GRCm38) |
E213D |
probably damaging |
Het |
| Gmip |
T |
A |
8: 69,817,372 (GRCm38) |
V675E |
probably benign |
Het |
| Grb10 |
C |
A |
11: 11,943,932 (GRCm38) |
E330* |
probably null |
Het |
| Hist1h2ai |
A |
T |
13: 21,716,689 (GRCm38) |
N90Y |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,129,992 (GRCm38) |
K778R |
probably damaging |
Het |
| Ighv1-26 |
T |
C |
12: 114,788,796 (GRCm38) |
S4G |
probably benign |
Het |
| Igkv3-3 |
T |
A |
6: 70,687,273 (GRCm38) |
V33E |
possibly damaging |
Het |
| Itga2 |
C |
A |
13: 114,866,190 (GRCm38) |
G588V |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,388,284 (GRCm38) |
H58Y |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,248,048 (GRCm38) |
D2365E |
possibly damaging |
Het |
| Limk1 |
T |
C |
5: 134,657,955 (GRCm38) |
Y518C |
probably damaging |
Het |
| March6 |
G |
C |
15: 31,465,351 (GRCm38) |
H802Q |
probably benign |
Het |
| Mark2 |
A |
G |
19: 7,290,761 (GRCm38) |
S26P |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,716,040 (GRCm38) |
L2074Q |
probably damaging |
Het |
| Mrpl37 |
T |
C |
4: 107,064,596 (GRCm38) |
E174G |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,379,331 (GRCm38) |
H860R |
probably benign |
Het |
| Neurod1 |
A |
G |
2: 79,454,161 (GRCm38) |
F293L |
probably benign |
Het |
| Nwd1 |
C |
T |
8: 72,662,186 (GRCm38) |
R81W |
probably damaging |
Het |
| Nwd2 |
C |
A |
5: 63,805,788 (GRCm38) |
A905E |
probably benign |
Het |
| Olfr1375 |
T |
A |
11: 51,048,768 (GRCm38) |
Y220* |
probably null |
Het |
| Olfr1445 |
A |
C |
19: 12,884,108 (GRCm38) |
T76P |
probably damaging |
Het |
| Olfr307 |
A |
T |
7: 86,336,384 (GRCm38) |
I4N |
possibly damaging |
Het |
| Olfr860 |
A |
G |
9: 19,845,728 (GRCm38) |
I297T |
probably benign |
Het |
| Otop1 |
C |
A |
5: 38,287,890 (GRCm38) |
|
probably null |
Het |
| Otp |
A |
G |
13: 94,875,780 (GRCm38) |
H4R |
probably damaging |
Het |
| P4htm |
A |
C |
9: 108,581,951 (GRCm38) |
Y261D |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,473,041 (GRCm38) |
C1148S |
probably damaging |
Het |
| Plekhg1 |
A |
T |
10: 3,964,369 (GRCm38) |
R1419W |
probably damaging |
Het |
| Prkd3 |
C |
A |
17: 78,966,355 (GRCm38) |
D491Y |
possibly damaging |
Het |
| Prr11 |
A |
C |
11: 87,103,628 (GRCm38) |
L64R |
possibly damaging |
Het |
| Pygo1 |
G |
T |
9: 72,944,698 (GRCm38) |
A56S |
probably damaging |
Het |
| Rexo5 |
A |
G |
7: 119,805,247 (GRCm38) |
T189A |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,458,428 (GRCm38) |
H3784L |
possibly damaging |
Het |
| Rps6ka5 |
T |
G |
12: 100,595,920 (GRCm38) |
|
probably null |
Het |
| Slco2b1 |
T |
A |
7: 99,688,899 (GRCm38) |
I93F |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 83,003,864 (GRCm38) |
*408W |
probably null |
Het |
| Sptbn1 |
C |
A |
11: 30,159,443 (GRCm38) |
E51* |
probably null |
Het |
| Ssc5d |
T |
A |
7: 4,927,254 (GRCm38) |
H111Q |
probably damaging |
Het |
| Sult1c1 |
T |
C |
17: 53,973,953 (GRCm38) |
N41D |
probably benign |
Het |
| Taar8c |
G |
A |
10: 24,101,218 (GRCm38) |
T232I |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,975,403 (GRCm38) |
E2G |
possibly damaging |
Het |
| Tff2 |
T |
C |
17: 31,144,178 (GRCm38) |
E24G |
probably benign |
Het |
| Tjp2 |
C |
A |
19: 24,125,704 (GRCm38) |
|
probably null |
Het |
| Tnfrsf1b |
A |
T |
4: 145,219,907 (GRCm38) |
D311E |
probably benign |
Het |
| Usp15 |
G |
T |
10: 123,168,305 (GRCm38) |
N181K |
probably damaging |
Het |
| Vmn1r175 |
T |
G |
7: 23,809,166 (GRCm38) |
E12A |
possibly damaging |
Het |
| Vmn1r47 |
T |
C |
6: 90,022,791 (GRCm38) |
S302P |
probably damaging |
Het |
| Vmn2r58 |
A |
G |
7: 41,837,401 (GRCm38) |
M690T |
probably benign |
Het |
| Wee1 |
T |
A |
7: 110,135,651 (GRCm38) |
H465Q |
probably damaging |
Het |
| Zfr |
C |
T |
15: 12,146,245 (GRCm38) |
A294V |
unknown |
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 |
|
R2014: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 |
|
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'- AACTGTCCTGTGTACCGCTG -3'
(R):5'- AGATGCGTTTGCTTCACTGG -3'
Sequencing Primer
(F):5'- CCCAGTGCTCAGCTTTAGATTAG -3'
(R):5'- GCTTCACTGGCTAAAAATCCTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation