Incidental Mutation 'R7002:Blm'
| ID |
544600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blm
|
| Ensembl Gene |
ENSMUSG00000030528 |
| Gene Name |
Bloom syndrome, RecQ like helicase |
| Synonyms |
|
| MMRRC Submission |
045107-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7002 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80454733-80535119 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80469753 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 1024
(K1024R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081314]
[ENSMUST00000170315]
|
| AlphaFold |
O88700 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081314
AA Change: K1024R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: K1024R
| 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 benign
Transcript: ENSMUST00000170315
AA Change: K1027R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: K1027R
| 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 |
probably benign
Transcript: ENSMUST00000205730
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (73/73) |
| 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 |
|---|
| Abca8b |
A |
G |
11: 109,941,564 (GRCm38) |
S1308P |
probably damaging |
Het |
| Abl2 |
A |
T |
1: 156,559,133 (GRCm38) |
R29W |
probably damaging |
Het |
| Adam6b |
C |
A |
12: 113,489,707 (GRCm38) |
S48* |
probably null |
Het |
| Adamts18 |
T |
A |
8: 113,775,290 (GRCm38) |
D313V |
possibly damaging |
Het |
| Aoc1 |
A |
G |
6: 48,905,876 (GRCm38) |
S229G |
probably benign |
Het |
| Apol10a |
G |
A |
15: 77,484,846 (GRCm38) |
R15H |
possibly damaging |
Het |
| Bend4 |
T |
A |
5: 67,398,259 (GRCm38) |
T535S |
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,539,918 (GRCm38) |
V1049A |
probably benign |
Het |
| Cerk |
T |
C |
15: 86,156,594 (GRCm38) |
Y188C |
possibly damaging |
Het |
| Cic |
C |
T |
7: 25,272,196 (GRCm38) |
R451C |
probably damaging |
Het |
| Col18a1 |
A |
T |
10: 77,166,343 (GRCm38) |
V10E |
unknown |
Het |
| Cplx1 |
T |
A |
5: 108,520,316 (GRCm38) |
K58M |
probably damaging |
Het |
| Crybg1 |
T |
A |
10: 43,998,835 (GRCm38) |
D759V |
probably damaging |
Het |
| Cwc25 |
A |
T |
11: 97,748,071 (GRCm38) |
N342K |
probably damaging |
Het |
| Dab2 |
A |
T |
15: 6,435,365 (GRCm38) |
T566S |
probably benign |
Het |
| Depdc5 |
G |
A |
5: 32,877,158 (GRCm38) |
|
probably null |
Het |
| Dip2b |
T |
A |
15: 100,160,465 (GRCm38) |
N408K |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,876,998 (GRCm38) |
I3631T |
probably damaging |
Het |
| Dnase1 |
A |
G |
16: 4,039,546 (GRCm38) |
I236V |
possibly damaging |
Het |
| Duox1 |
C |
T |
2: 122,319,877 (GRCm38) |
Q196* |
probably null |
Het |
| Eef2k |
G |
A |
7: 120,891,932 (GRCm38) |
R547Q |
probably benign |
Het |
| Erich5 |
C |
T |
15: 34,471,362 (GRCm38) |
L246F |
probably damaging |
Het |
| Frmpd1 |
C |
T |
4: 45,284,200 (GRCm38) |
A1007V |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,989,343 (GRCm38) |
I5140N |
possibly damaging |
Het |
| Gan |
T |
C |
8: 117,195,847 (GRCm38) |
C440R |
possibly damaging |
Het |
| Garnl3 |
T |
A |
2: 33,054,193 (GRCm38) |
H73L |
possibly damaging |
Het |
| Gid8 |
T |
G |
2: 180,713,303 (GRCm38) |
M34R |
possibly damaging |
Het |
| Gjd4 |
C |
A |
18: 9,280,960 (GRCm38) |
L39F |
possibly damaging |
Het |
| Gm5868 |
T |
A |
5: 72,586,420 (GRCm38) |
|
probably null |
Het |
| Gpatch2l |
G |
A |
12: 86,244,184 (GRCm38) |
R47H |
probably damaging |
Het |
| Grhpr |
T |
C |
4: 44,990,427 (GRCm38) |
S306P |
probably damaging |
Het |
| H2bc21 |
A |
G |
3: 96,221,373 (GRCm38) |
I70V |
probably benign |
Het |
| Hdac4 |
T |
G |
1: 91,968,361 (GRCm38) |
K729T |
possibly damaging |
Het |
| Igfbp2 |
C |
T |
1: 72,849,645 (GRCm38) |
H85Y |
probably damaging |
Het |
| Igkv4-61 |
T |
G |
6: 69,417,389 (GRCm38) |
I13L |
probably benign |
Het |
| Il18r1 |
G |
A |
1: 40,474,853 (GRCm38) |
S73N |
probably benign |
Het |
| Immt |
T |
C |
6: 71,861,040 (GRCm38) |
V244A |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,288,260 (GRCm38) |
Y745C |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,110,580 (GRCm38) |
V1526A |
probably benign |
Het |
| Jrkl |
A |
T |
9: 13,245,521 (GRCm38) |
I45K |
probably damaging |
Het |
| Lamp3 |
G |
T |
16: 19,655,422 (GRCm38) |
Q401K |
possibly damaging |
Het |
| Lrrfip1 |
T |
A |
1: 91,115,458 (GRCm38) |
H528Q |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,423,473 (GRCm38) |
D245E |
probably benign |
Het |
| Mmut |
T |
A |
17: 40,941,383 (GRCm38) |
I272N |
possibly damaging |
Het |
| Mnat1 |
T |
C |
12: 73,230,705 (GRCm38) |
|
probably benign |
Het |
| Mprip |
A |
C |
11: 59,761,190 (GRCm38) |
M1907L |
probably benign |
Het |
| Nfu1 |
C |
A |
6: 87,016,272 (GRCm38) |
H131Q |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,323,568 (GRCm38) |
S670R |
probably damaging |
Het |
| Or5b120 |
A |
G |
19: 13,502,675 (GRCm38) |
N111D |
probably benign |
Het |
| Or8k40 |
T |
C |
2: 86,754,681 (GRCm38) |
D19G |
probably benign |
Het |
| Pals2 |
C |
T |
6: 50,162,662 (GRCm38) |
P116L |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,602,404 (GRCm38) |
V523E |
probably damaging |
Het |
| Pbrm1 |
T |
A |
14: 31,064,820 (GRCm38) |
D631E |
probably benign |
Het |
| Prss40 |
A |
T |
1: 34,552,400 (GRCm38) |
|
probably null |
Het |
| Rnf13 |
A |
G |
3: 57,833,612 (GRCm38) |
N274S |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,593,947 (GRCm38) |
Y486F |
probably damaging |
Het |
| Sec14l3 |
A |
T |
11: 4,075,263 (GRCm38) |
H291L |
possibly damaging |
Het |
| Senp5 |
A |
G |
16: 31,983,775 (GRCm38) |
S532P |
probably damaging |
Het |
| Sepsecs |
T |
C |
5: 52,647,208 (GRCm38) |
|
probably null |
Het |
| Serpina1e |
T |
C |
12: 103,948,079 (GRCm38) |
I329V |
probably benign |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 126,389,034 (GRCm38) |
|
unknown |
Het |
| Smc5 |
A |
G |
19: 23,231,883 (GRCm38) |
V639A |
probably benign |
Het |
| Speg |
T |
A |
1: 75,423,268 (GRCm38) |
V2453E |
probably damaging |
Het |
| Syt2 |
T |
A |
1: 134,744,104 (GRCm38) |
F207I |
probably damaging |
Het |
| Tchp |
C |
T |
5: 114,708,796 (GRCm38) |
S48L |
probably benign |
Het |
| Trim12a |
A |
G |
7: 104,304,176 (GRCm38) |
S243P |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,798,217 (GRCm38) |
E14533G |
probably damaging |
Het |
| Vmn1r50 |
T |
A |
6: 90,107,837 (GRCm38) |
M188K |
probably benign |
Het |
| Vps11 |
G |
A |
9: 44,355,079 (GRCm38) |
T437I |
probably damaging |
Het |
| Xrn1 |
C |
T |
9: 96,047,790 (GRCm38) |
T1498I |
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,691,576 (GRCm38) |
|
probably null |
Het |
| Zfp316 |
T |
C |
5: 143,263,355 (GRCm38) |
D175G |
unknown |
Het |
| Zmynd11 |
A |
G |
13: 9,694,330 (GRCm38) |
L256P |
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 |
|
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'- TACCATGCTTGCCCATGTTGG -3'
(R):5'- TCGTAACTTGCAGCATAAAGATGTC -3'
Sequencing Primer
(F):5'- CTTGGAACTCACTGTGTAGACCAG -3'
(R):5'- CATTGGCACTGCATTGCTAACAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation