Incidental Mutation 'R7561:Blm'
| ID |
585126 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blm
|
| Ensembl Gene |
ENSMUSG00000030528 |
| Gene Name |
Bloom syndrome, RecQ like helicase |
| Synonyms |
|
| MMRRC Submission |
045654-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7561 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80454733-80535119 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80502528 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 557
(A557V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081314]
[ENSMUST00000170315]
|
| AlphaFold |
O88700 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081314
AA Change: A554V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: A554V
| 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: A557V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: A557V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
A |
13: 77,193,195 (GRCm38) |
N314K |
probably benign |
Het |
| 6030419C18Rik |
A |
G |
9: 58,499,404 (GRCm38) |
D199G |
probably damaging |
Het |
| A430005L14Rik |
T |
A |
4: 153,960,640 (GRCm38) |
I80N |
probably benign |
Het |
| Abca2 |
A |
G |
2: 25,446,695 (GRCm38) |
H2271R |
probably damaging |
Het |
| Acad8 |
T |
C |
9: 26,979,242 (GRCm38) |
I257V |
probably benign |
Het |
| Acot12 |
A |
T |
13: 91,770,124 (GRCm38) |
T179S |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,559,172 (GRCm38) |
R1155G |
possibly damaging |
Het |
| Adcy9 |
C |
T |
16: 4,418,164 (GRCm38) |
C461Y |
probably damaging |
Het |
| Adgrf1 |
G |
A |
17: 43,311,109 (GRCm38) |
V746I |
possibly damaging |
Het |
| Agbl1 |
C |
A |
7: 76,698,761 (GRCm38) |
Q869K |
unknown |
Het |
| AI837181 |
T |
G |
19: 5,426,463 (GRCm38) |
V218G |
probably damaging |
Het |
| Alg9 |
T |
C |
9: 50,842,774 (GRCm38) |
S585P |
possibly damaging |
Het |
| Arhgef38 |
T |
C |
3: 133,160,728 (GRCm38) |
Q216R |
|
Het |
| Asb4 |
A |
T |
6: 5,430,968 (GRCm38) |
H401L |
possibly damaging |
Het |
| Atg7 |
G |
T |
6: 114,673,041 (GRCm38) |
A60S |
possibly damaging |
Het |
| Atp10a |
T |
A |
7: 58,827,133 (GRCm38) |
C1199S |
probably damaging |
Het |
| Cbln1 |
A |
T |
8: 87,471,996 (GRCm38) |
M82K |
probably benign |
Het |
| Ccdc183 |
T |
G |
2: 25,611,517 (GRCm38) |
I293L |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,775,741 (GRCm38) |
S3035P |
unknown |
Het |
| Cux2 |
A |
T |
5: 121,879,868 (GRCm38) |
S206T |
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,270,598 (GRCm38) |
D355G |
probably benign |
Het |
| D430042O09Rik |
C |
T |
7: 125,842,722 (GRCm38) |
S627L |
probably benign |
Het |
| Dhrs2 |
A |
G |
14: 55,237,241 (GRCm38) |
H111R |
probably benign |
Het |
| Eif3b |
T |
G |
5: 140,442,354 (GRCm38) |
D781E |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,085,264 (GRCm38) |
G356S |
probably damaging |
Het |
| Fermt1 |
A |
T |
2: 132,916,088 (GRCm38) |
I469N |
probably benign |
Het |
| Fgf20 |
G |
T |
8: 40,279,934 (GRCm38) |
N154K |
possibly damaging |
Het |
| Fndc10 |
T |
A |
4: 155,694,871 (GRCm38) |
V124E |
probably damaging |
Het |
| Fra10ac1 |
T |
C |
19: 38,221,876 (GRCm38) |
D13G |
probably damaging |
Het |
| Gpatch1 |
A |
G |
7: 35,309,375 (GRCm38) |
S74P |
probably damaging |
Het |
| Gramd1b |
G |
A |
9: 40,401,615 (GRCm38) |
T19I |
unknown |
Het |
| Grm8 |
T |
C |
6: 27,429,525 (GRCm38) |
T457A |
probably benign |
Het |
| Gucy2g |
C |
A |
19: 55,206,340 (GRCm38) |
V882L |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,291,225 (GRCm38) |
R811H |
possibly damaging |
Het |
| Hk1 |
C |
T |
10: 62,281,028 (GRCm38) |
|
probably null |
Het |
| Idh2 |
TCCCAGG |
T |
7: 80,098,331 (GRCm38) |
|
probably benign |
Het |
| Il10ra |
T |
A |
9: 45,255,819 (GRCm38) |
D480V |
probably benign |
Het |
| Il18rap |
A |
T |
1: 40,524,377 (GRCm38) |
H22L |
probably benign |
Het |
| Inpp5a |
T |
A |
7: 139,567,422 (GRCm38) |
I321N |
probably damaging |
Het |
| Kat2b |
T |
G |
17: 53,641,258 (GRCm38) |
L352R |
probably benign |
Het |
| Kcna1 |
A |
T |
6: 126,642,145 (GRCm38) |
V404E |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,492,878 (GRCm38) |
V1110E |
possibly damaging |
Het |
| Moxd2 |
C |
T |
6: 40,887,403 (GRCm38) |
R31H |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,307,151 (GRCm38) |
N1368K |
probably damaging |
Het |
| Mpzl3 |
G |
T |
9: 45,055,312 (GRCm38) |
V24F |
probably benign |
Het |
| Mybph |
G |
A |
1: 134,193,727 (GRCm38) |
|
probably null |
Het |
| Ncam1 |
G |
T |
9: 49,564,942 (GRCm38) |
D282E |
probably damaging |
Het |
| Ntrk2 |
G |
A |
13: 58,861,388 (GRCm38) |
C331Y |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,807,091 (GRCm38) |
C1339* |
probably null |
Het |
| Olfr1080 |
T |
C |
2: 86,553,317 (GRCm38) |
D269G |
probably benign |
Het |
| Olfr1450 |
T |
C |
19: 12,954,039 (GRCm38) |
V150A |
probably benign |
Het |
| Olfr411 |
T |
C |
11: 74,347,610 (GRCm38) |
|
probably benign |
Het |
| Osbpl6 |
C |
A |
2: 76,586,154 (GRCm38) |
T672N |
probably damaging |
Het |
| Pds5b |
T |
C |
5: 150,739,318 (GRCm38) |
|
probably null |
Het |
| Perm1 |
A |
G |
4: 156,218,760 (GRCm38) |
N587S |
probably benign |
Het |
| Pex7 |
A |
T |
10: 19,894,266 (GRCm38) |
C165* |
probably null |
Het |
| Pik3r4 |
A |
G |
9: 105,687,247 (GRCm38) |
T1347A |
possibly damaging |
Het |
| Pitpnm3 |
T |
C |
11: 72,051,182 (GRCm38) |
D933G |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,441,719 (GRCm38) |
F2586I |
|
Het |
| Scn10a |
A |
G |
9: 119,694,324 (GRCm38) |
M1T |
probably null |
Het |
| Sdhaf3 |
T |
A |
6: 6,956,079 (GRCm38) |
L18Q |
not run |
Het |
| Sept7 |
A |
G |
9: 25,297,855 (GRCm38) |
E256G |
possibly damaging |
Het |
| Slc35b2 |
A |
G |
17: 45,566,801 (GRCm38) |
T236A |
probably damaging |
Het |
| Slc4a4 |
G |
A |
5: 89,199,697 (GRCm38) |
G766R |
probably damaging |
Het |
| Slco6c1 |
G |
T |
1: 97,072,966 (GRCm38) |
S537Y |
probably damaging |
Het |
| Srp68 |
T |
C |
11: 116,248,767 (GRCm38) |
E452G |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 55,055,833 (GRCm38) |
M382K |
probably benign |
Het |
| Tas2r131 |
A |
G |
6: 132,956,958 (GRCm38) |
L296P |
probably benign |
Het |
| Tlr9 |
A |
G |
9: 106,225,949 (GRCm38) |
E813G |
probably benign |
Het |
| Trmt44 |
T |
C |
5: 35,557,992 (GRCm38) |
E659G |
possibly damaging |
Het |
| Ttc21b |
G |
A |
2: 66,217,204 (GRCm38) |
A849V |
possibly damaging |
Het |
| Unc45a |
G |
T |
7: 80,331,586 (GRCm38) |
S489R |
possibly damaging |
Het |
| Xrn1 |
T |
C |
9: 95,999,458 (GRCm38) |
V795A |
probably benign |
Het |
| Zbtb22 |
A |
T |
17: 33,917,978 (GRCm38) |
T366S |
probably benign |
Het |
| Zcchc10 |
T |
A |
11: 53,324,718 (GRCm38) |
H6Q |
probably benign |
Het |
| Zfp60 |
A |
G |
7: 27,748,530 (GRCm38) |
K208E |
probably damaging |
Het |
| Zfp780b |
A |
T |
7: 27,964,612 (GRCm38) |
C173S |
possibly damaging |
Het |
| Zfp786 |
C |
A |
6: 47,819,733 (GRCm38) |
R757L |
probably benign |
Het |
| Zfp936 |
G |
A |
7: 43,189,915 (GRCm38) |
A269T |
probably damaging |
Het |
| Zfp976 |
T |
C |
7: 42,616,277 (GRCm38) |
Y29C |
probably 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 |
|
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 |
|
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 |
|
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'- TGCCTTGGCTGAAGAAATCC -3'
(R):5'- GGAAAGACAGGATTCTCAGCCAC -3'
Sequencing Primer
(F):5'- CTTTCTGAGAGAGATTTAACTGGCCC -3'
(R):5'- CCGAAGAATCTCTTTGAAAGGCCG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation