Incidental Mutation 'R2103:Blm'
| ID |
230687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blm
|
| Ensembl Gene |
ENSMUSG00000030528 |
| Gene Name |
Bloom syndrome, RecQ like helicase |
| Synonyms |
|
| MMRRC Submission |
040107-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2103 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80454733-80535119 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 80505949 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 null
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 null
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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
C |
A |
3: 60,039,814 (GRCm38) |
P311Q |
probably damaging |
Het |
| Acoxl |
T |
A |
2: 127,972,606 (GRCm38) |
M314K |
probably damaging |
Het |
| Agmat |
A |
T |
4: 141,755,903 (GRCm38) |
D216V |
probably damaging |
Het |
| Aida |
A |
T |
1: 183,313,692 (GRCm38) |
E107D |
probably benign |
Het |
| Ano5 |
A |
G |
7: 51,537,813 (GRCm38) |
K50R |
possibly damaging |
Het |
| Anxa2 |
A |
T |
9: 69,483,816 (GRCm38) |
D95V |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,491,665 (GRCm38) |
V3023M |
probably damaging |
Het |
| Atg16l2 |
A |
G |
7: 101,290,361 (GRCm38) |
|
probably null |
Het |
| B3galt4 |
G |
A |
17: 33,950,839 (GRCm38) |
R142C |
probably damaging |
Het |
| B3galt5 |
A |
T |
16: 96,316,025 (GRCm38) |
K286M |
probably damaging |
Het |
| Best3 |
A |
C |
10: 117,002,594 (GRCm38) |
I186L |
probably benign |
Het |
| Cat |
A |
T |
2: 103,463,315 (GRCm38) |
D389E |
probably damaging |
Het |
| Cluh |
C |
A |
11: 74,659,529 (GRCm38) |
C222* |
probably null |
Het |
| Cntnap2 |
G |
A |
6: 47,298,588 (GRCm38) |
E1325K |
probably damaging |
Het |
| Col14a1 |
A |
T |
15: 55,449,940 (GRCm38) |
D1320V |
unknown |
Het |
| Col4a3bp |
T |
A |
13: 96,634,886 (GRCm38) |
N550K |
probably damaging |
Het |
| Cpne7 |
A |
G |
8: 123,127,437 (GRCm38) |
K288E |
possibly damaging |
Het |
| Cyp26b1 |
A |
G |
6: 84,575,050 (GRCm38) |
S369P |
possibly damaging |
Het |
| Cyp2j9 |
T |
A |
4: 96,571,964 (GRCm38) |
K434M |
probably damaging |
Het |
| Dpyd |
G |
C |
3: 119,064,952 (GRCm38) |
S605T |
probably benign |
Het |
| Dst |
A |
G |
1: 34,190,258 (GRCm38) |
T1986A |
probably benign |
Het |
| Ebf2 |
T |
A |
14: 67,387,942 (GRCm38) |
V233D |
probably damaging |
Het |
| Ecm2 |
A |
G |
13: 49,530,256 (GRCm38) |
D570G |
probably benign |
Het |
| Efhc1 |
T |
A |
1: 20,989,560 (GRCm38) |
C611* |
probably null |
Het |
| Epop |
T |
C |
11: 97,628,654 (GRCm38) |
T210A |
probably benign |
Het |
| Fdxacb1 |
A |
T |
9: 50,771,646 (GRCm38) |
N101I |
probably benign |
Het |
| Fezf1 |
A |
G |
6: 23,247,332 (GRCm38) |
F248S |
possibly damaging |
Het |
| Galnt16 |
A |
G |
12: 80,583,656 (GRCm38) |
D262G |
probably damaging |
Het |
| Gm9507 |
T |
A |
10: 77,811,666 (GRCm38) |
|
probably benign |
Het |
| Grin2b |
A |
T |
6: 135,780,140 (GRCm38) |
I441N |
probably benign |
Het |
| H2-Eb2 |
A |
G |
17: 34,334,304 (GRCm38) |
I155V |
probably benign |
Het |
| Hectd4 |
C |
A |
5: 121,355,629 (GRCm38) |
D3811E |
probably benign |
Het |
| Herc4 |
T |
C |
10: 63,246,110 (GRCm38) |
S71P |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,327,718 (GRCm38) |
T628A |
probably benign |
Het |
| Hoga1 |
A |
C |
19: 42,060,020 (GRCm38) |
|
probably null |
Het |
| Igf2bp1 |
A |
G |
11: 95,975,296 (GRCm38) |
V122A |
probably damaging |
Het |
| Il10ra |
C |
A |
9: 45,255,811 (GRCm38) |
A481S |
probably benign |
Het |
| Klk1b26 |
A |
T |
7: 44,016,900 (GRCm38) |
T256S |
probably damaging |
Het |
| Kndc1 |
C |
T |
7: 139,921,234 (GRCm38) |
T813I |
probably benign |
Het |
| Limch1 |
A |
G |
5: 66,998,729 (GRCm38) |
K394R |
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,500,261 (GRCm38) |
E1446G |
probably benign |
Het |
| Lrrc47 |
C |
T |
4: 154,015,893 (GRCm38) |
R287W |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,738,712 (GRCm38) |
L3555Q |
possibly damaging |
Het |
| Mei1 |
G |
T |
15: 82,107,036 (GRCm38) |
V472F |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 82,103,204 (GRCm38) |
H399R |
possibly damaging |
Het |
| Mrps34 |
T |
A |
17: 24,895,490 (GRCm38) |
|
probably null |
Het |
| Myom3 |
A |
G |
4: 135,776,412 (GRCm38) |
T391A |
probably benign |
Het |
| Nfib |
G |
A |
4: 82,330,408 (GRCm38) |
T314I |
possibly damaging |
Het |
| Olfr1451 |
T |
C |
19: 12,999,502 (GRCm38) |
V172A |
possibly damaging |
Het |
| Olfr459 |
A |
G |
6: 41,772,005 (GRCm38) |
I98T |
probably benign |
Het |
| Olfr498 |
A |
G |
7: 108,465,603 (GRCm38) |
N93S |
probably benign |
Het |
| Olfr774 |
T |
C |
10: 129,238,499 (GRCm38) |
S117P |
probably damaging |
Het |
| Pdia3 |
G |
C |
2: 121,433,993 (GRCm38) |
G346A |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,777,924 (GRCm38) |
F2117S |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,173,543 (GRCm38) |
F4055L |
probably damaging |
Het |
| Ppip5k1 |
A |
T |
2: 121,321,653 (GRCm38) |
|
probably null |
Het |
| Psma6 |
T |
C |
12: 55,408,057 (GRCm38) |
I57T |
probably benign |
Het |
| Psme2 |
A |
T |
14: 55,590,840 (GRCm38) |
|
probably null |
Het |
| Reln |
A |
T |
5: 21,969,360 (GRCm38) |
D1948E |
possibly damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,579,906 (GRCm38) |
|
probably benign |
Het |
| Sbno1 |
G |
T |
5: 124,393,937 (GRCm38) |
S727R |
probably damaging |
Het |
| Serpina3m |
C |
A |
12: 104,389,699 (GRCm38) |
Y208* |
probably null |
Het |
| Serpind1 |
T |
C |
16: 17,342,944 (GRCm38) |
V446A |
probably benign |
Het |
| Shc3 |
T |
A |
13: 51,442,836 (GRCm38) |
M384L |
probably benign |
Het |
| Slc38a11 |
A |
G |
2: 65,330,339 (GRCm38) |
F304L |
probably benign |
Het |
| Slc4a5 |
A |
C |
6: 83,224,681 (GRCm38) |
D4A |
probably benign |
Het |
| Slc4a5 |
G |
A |
6: 83,297,378 (GRCm38) |
A1076T |
probably benign |
Het |
| Slpi |
C |
T |
2: 164,355,543 (GRCm38) |
C28Y |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 30,030,471 (GRCm38) |
S2320P |
probably damaging |
Het |
| Stim2 |
A |
G |
5: 54,105,249 (GRCm38) |
T278A |
possibly damaging |
Het |
| Sympk |
T |
A |
7: 19,054,116 (GRCm38) |
S1186T |
probably benign |
Het |
| Tbrg1 |
T |
C |
9: 37,649,419 (GRCm38) |
D387G |
probably benign |
Het |
| Tns2 |
A |
T |
15: 102,112,665 (GRCm38) |
|
probably null |
Het |
| Tnxb |
A |
G |
17: 34,682,251 (GRCm38) |
Y1013C |
probably damaging |
Het |
| Tpsg1 |
T |
C |
17: 25,373,293 (GRCm38) |
S41P |
possibly damaging |
Het |
| Trim36 |
T |
C |
18: 46,196,082 (GRCm38) |
N85S |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,796,284 (GRCm38) |
H380L |
probably benign |
Het |
| Tssk4 |
A |
G |
14: 55,651,540 (GRCm38) |
I174M |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,946,391 (GRCm38) |
|
probably null |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,290,932 (GRCm38) |
|
probably null |
Het |
| Vmn2r4 |
T |
A |
3: 64,415,283 (GRCm38) |
N5I |
possibly damaging |
Het |
| Vps11 |
G |
A |
9: 44,359,227 (GRCm38) |
H183Y |
probably damaging |
Het |
| Vsig10l |
A |
G |
7: 43,467,468 (GRCm38) |
T476A |
possibly damaging |
Het |
| Vwa8 |
C |
T |
14: 78,908,230 (GRCm38) |
R116C |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,646,330 (GRCm38) |
V1797I |
probably benign |
Het |
| Wasl |
A |
T |
6: 24,618,378 (GRCm38) |
S447T |
unknown |
Het |
| Whamm |
C |
T |
7: 81,591,771 (GRCm38) |
R277* |
probably null |
Het |
| Zfp874a |
T |
A |
13: 67,442,504 (GRCm38) |
I354F |
probably benign |
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 |
|
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'- AGGAGTTGAATGATCTAAACGTCACTG -3'
(R):5'- TCTCTTGGGACCAGAAGACG -3'
Sequencing Primer
(F):5'- AGACTTGAAAGATGCGTGTGTG -3'
(R):5'- CGAGAATGTAATCTCAGCGCTTG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation