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 |
80104741-80184896 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 80155697 bp (GRCm39)
|
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: 59,947,235 (GRCm39) |
P311Q |
probably damaging |
Het |
Acoxl |
T |
A |
2: 127,814,526 (GRCm39) |
M314K |
probably damaging |
Het |
Agmat |
A |
T |
4: 141,483,214 (GRCm39) |
D216V |
probably damaging |
Het |
Aida |
A |
T |
1: 183,094,627 (GRCm39) |
E107D |
probably benign |
Het |
Ano5 |
A |
G |
7: 51,187,561 (GRCm39) |
K50R |
possibly damaging |
Het |
Anxa2 |
A |
T |
9: 69,391,098 (GRCm39) |
D95V |
probably damaging |
Het |
Aspm |
G |
A |
1: 139,419,403 (GRCm39) |
V3023M |
probably damaging |
Het |
Atg16l2 |
A |
G |
7: 100,939,568 (GRCm39) |
|
probably null |
Het |
B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
B3galt5 |
A |
T |
16: 96,117,225 (GRCm39) |
K286M |
probably damaging |
Het |
Best3 |
A |
C |
10: 116,838,499 (GRCm39) |
I186L |
probably benign |
Het |
Cat |
A |
T |
2: 103,293,660 (GRCm39) |
D389E |
probably damaging |
Het |
Cert1 |
T |
A |
13: 96,771,394 (GRCm39) |
N550K |
probably damaging |
Het |
Cluh |
C |
A |
11: 74,550,355 (GRCm39) |
C222* |
probably null |
Het |
Cntnap2 |
G |
A |
6: 47,275,522 (GRCm39) |
E1325K |
probably damaging |
Het |
Col14a1 |
A |
T |
15: 55,313,336 (GRCm39) |
D1320V |
unknown |
Het |
Cpne7 |
A |
G |
8: 123,854,176 (GRCm39) |
K288E |
possibly damaging |
Het |
Cyp26b1 |
A |
G |
6: 84,552,032 (GRCm39) |
S369P |
possibly damaging |
Het |
Cyp2j9 |
T |
A |
4: 96,460,201 (GRCm39) |
K434M |
probably damaging |
Het |
Dpyd |
G |
C |
3: 118,858,601 (GRCm39) |
S605T |
probably benign |
Het |
Dst |
A |
G |
1: 34,229,339 (GRCm39) |
T1986A |
probably benign |
Het |
Ebf2 |
T |
A |
14: 67,625,391 (GRCm39) |
V233D |
probably damaging |
Het |
Ecm2 |
A |
G |
13: 49,683,732 (GRCm39) |
D570G |
probably benign |
Het |
Efhc1 |
T |
A |
1: 21,059,784 (GRCm39) |
C611* |
probably null |
Het |
Epop |
T |
C |
11: 97,519,480 (GRCm39) |
T210A |
probably benign |
Het |
Fdxacb1 |
A |
T |
9: 50,682,946 (GRCm39) |
N101I |
probably benign |
Het |
Fezf1 |
A |
G |
6: 23,247,331 (GRCm39) |
F248S |
possibly damaging |
Het |
Galnt16 |
A |
G |
12: 80,630,430 (GRCm39) |
D262G |
probably damaging |
Het |
Gm9507 |
T |
A |
10: 77,647,500 (GRCm39) |
|
probably benign |
Het |
Grin2b |
A |
T |
6: 135,757,138 (GRCm39) |
I441N |
probably benign |
Het |
H2-Eb2 |
A |
G |
17: 34,553,278 (GRCm39) |
I155V |
probably benign |
Het |
Hectd4 |
C |
A |
5: 121,493,692 (GRCm39) |
D3811E |
probably benign |
Het |
Herc4 |
T |
C |
10: 63,081,889 (GRCm39) |
S71P |
probably benign |
Het |
Hhipl1 |
A |
G |
12: 108,293,977 (GRCm39) |
T628A |
probably benign |
Het |
Hoga1 |
A |
C |
19: 42,048,459 (GRCm39) |
|
probably null |
Het |
Igf2bp1 |
A |
G |
11: 95,866,122 (GRCm39) |
V122A |
probably damaging |
Het |
Il10ra |
C |
A |
9: 45,167,109 (GRCm39) |
A481S |
probably benign |
Het |
Klk1b26 |
A |
T |
7: 43,666,324 (GRCm39) |
T256S |
probably damaging |
Het |
Kndc1 |
C |
T |
7: 139,501,150 (GRCm39) |
T813I |
probably benign |
Het |
Limch1 |
A |
G |
5: 67,156,072 (GRCm39) |
K394R |
probably benign |
Het |
Lrrc37a |
T |
C |
11: 103,391,087 (GRCm39) |
E1446G |
probably benign |
Het |
Lrrc47 |
C |
T |
4: 154,100,350 (GRCm39) |
R287W |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,738,712 (GRCm39) |
L3555Q |
possibly damaging |
Het |
Mei1 |
A |
G |
15: 81,987,405 (GRCm39) |
H399R |
possibly damaging |
Het |
Mei1 |
G |
T |
15: 81,991,237 (GRCm39) |
V472F |
probably damaging |
Het |
Mrps34 |
T |
A |
17: 25,114,464 (GRCm39) |
|
probably null |
Het |
Myom3 |
A |
G |
4: 135,503,723 (GRCm39) |
T391A |
probably benign |
Het |
Nfib |
G |
A |
4: 82,248,645 (GRCm39) |
T314I |
possibly damaging |
Het |
Or5b99 |
T |
C |
19: 12,976,866 (GRCm39) |
V172A |
possibly damaging |
Het |
Or5p73 |
A |
G |
7: 108,064,810 (GRCm39) |
N93S |
probably benign |
Het |
Or6c5 |
T |
C |
10: 129,074,368 (GRCm39) |
S117P |
probably damaging |
Het |
Or9a2 |
A |
G |
6: 41,748,939 (GRCm39) |
I98T |
probably benign |
Het |
Pdia3 |
G |
C |
2: 121,264,474 (GRCm39) |
G346A |
probably damaging |
Het |
Plce1 |
T |
C |
19: 38,766,368 (GRCm39) |
F2117S |
probably damaging |
Het |
Plec |
A |
G |
15: 76,057,743 (GRCm39) |
F4055L |
probably damaging |
Het |
Ppip5k1 |
A |
T |
2: 121,152,134 (GRCm39) |
|
probably null |
Het |
Psma6 |
T |
C |
12: 55,454,842 (GRCm39) |
I57T |
probably benign |
Het |
Psme2 |
A |
T |
14: 55,828,297 (GRCm39) |
|
probably null |
Het |
Reln |
A |
T |
5: 22,174,358 (GRCm39) |
D1948E |
possibly damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
G |
T |
5: 124,532,000 (GRCm39) |
S727R |
probably damaging |
Het |
Serpina3m |
C |
A |
12: 104,355,958 (GRCm39) |
Y208* |
probably null |
Het |
Serpind1 |
T |
C |
16: 17,160,808 (GRCm39) |
V446A |
probably benign |
Het |
Shc3 |
T |
A |
13: 51,596,872 (GRCm39) |
M384L |
probably benign |
Het |
Slc38a11 |
A |
G |
2: 65,160,683 (GRCm39) |
F304L |
probably benign |
Het |
Slc4a5 |
A |
C |
6: 83,201,663 (GRCm39) |
D4A |
probably benign |
Het |
Slc4a5 |
G |
A |
6: 83,274,360 (GRCm39) |
A1076T |
probably benign |
Het |
Slpi |
C |
T |
2: 164,197,463 (GRCm39) |
C28Y |
probably damaging |
Het |
Sptan1 |
T |
C |
2: 29,920,483 (GRCm39) |
S2320P |
probably damaging |
Het |
Stim2 |
A |
G |
5: 54,262,591 (GRCm39) |
T278A |
possibly damaging |
Het |
Sympk |
T |
A |
7: 18,788,041 (GRCm39) |
S1186T |
probably benign |
Het |
Tbrg1 |
T |
C |
9: 37,560,715 (GRCm39) |
D387G |
probably benign |
Het |
Tns2 |
A |
T |
15: 102,021,100 (GRCm39) |
|
probably null |
Het |
Tnxb |
A |
G |
17: 34,901,225 (GRCm39) |
Y1013C |
probably damaging |
Het |
Tpsg1 |
T |
C |
17: 25,592,267 (GRCm39) |
S41P |
possibly damaging |
Het |
Trim36 |
T |
C |
18: 46,329,149 (GRCm39) |
N85S |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,773,648 (GRCm39) |
H380L |
probably benign |
Het |
Tssk4 |
A |
G |
14: 55,888,997 (GRCm39) |
I174M |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,776,735 (GRCm39) |
|
probably null |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r4 |
T |
A |
3: 64,322,704 (GRCm39) |
N5I |
possibly damaging |
Het |
Vps11 |
G |
A |
9: 44,270,524 (GRCm39) |
H183Y |
probably damaging |
Het |
Vsig10l |
A |
G |
7: 43,116,892 (GRCm39) |
T476A |
possibly damaging |
Het |
Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
Vwf |
G |
A |
6: 125,623,293 (GRCm39) |
V1797I |
probably benign |
Het |
Wasl |
A |
T |
6: 24,618,377 (GRCm39) |
S447T |
unknown |
Het |
Whamm |
C |
T |
7: 81,241,519 (GRCm39) |
R277* |
probably null |
Het |
Zfp874a |
T |
A |
13: 67,590,623 (GRCm39) |
I354F |
probably benign |
Het |
|
Other mutations in Blm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01531:Blm
|
APN |
7 |
80,123,819 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01658:Blm
|
APN |
7 |
80,113,689 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02048:Blm
|
APN |
7 |
80,152,709 (GRCm39) |
splice site |
probably benign |
|
IGL02060:Blm
|
APN |
7 |
80,164,328 (GRCm39) |
splice site |
probably benign |
|
IGL02063:Blm
|
APN |
7 |
80,159,167 (GRCm39) |
nonsense |
probably null |
|
IGL02102:Blm
|
APN |
7 |
80,119,504 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02420:Blm
|
APN |
7 |
80,145,754 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02452:Blm
|
APN |
7 |
80,153,125 (GRCm39) |
splice site |
probably null |
|
IGL02566:Blm
|
APN |
7 |
80,123,944 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03387:Blm
|
APN |
7 |
80,143,895 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4304:Blm
|
UTSW |
7 |
80,162,667 (GRCm39) |
small insertion |
probably benign |
|
FR4304:Blm
|
UTSW |
7 |
80,113,521 (GRCm39) |
frame shift |
probably null |
|
FR4340:Blm
|
UTSW |
7 |
80,162,658 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Blm
|
UTSW |
7 |
80,113,515 (GRCm39) |
unclassified |
probably benign |
|
FR4449:Blm
|
UTSW |
7 |
80,162,656 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Blm
|
UTSW |
7 |
80,113,517 (GRCm39) |
frame shift |
probably null |
|
FR4589:Blm
|
UTSW |
7 |
80,113,518 (GRCm39) |
frame shift |
probably null |
|
FR4737:Blm
|
UTSW |
7 |
80,113,522 (GRCm39) |
frame shift |
probably null |
|
FR4737:Blm
|
UTSW |
7 |
80,113,519 (GRCm39) |
frame shift |
probably null |
|
FR4976:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Blm
|
UTSW |
7 |
80,113,515 (GRCm39) |
unclassified |
probably benign |
|
R0133:Blm
|
UTSW |
7 |
80,152,115 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0194:Blm
|
UTSW |
7 |
80,114,694 (GRCm39) |
unclassified |
probably benign |
|
R0526:Blm
|
UTSW |
7 |
80,155,641 (GRCm39) |
nonsense |
probably null |
|
R0673:Blm
|
UTSW |
7 |
80,149,499 (GRCm39) |
critical splice donor site |
probably null |
|
R0972:Blm
|
UTSW |
7 |
80,163,118 (GRCm39) |
missense |
probably benign |
|
R0980:Blm
|
UTSW |
7 |
80,149,706 (GRCm39) |
splice site |
probably null |
|
R1120:Blm
|
UTSW |
7 |
80,131,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R1301:Blm
|
UTSW |
7 |
80,105,165 (GRCm39) |
nonsense |
probably null |
|
R1769:Blm
|
UTSW |
7 |
80,163,118 (GRCm39) |
missense |
probably benign |
|
R1866:Blm
|
UTSW |
7 |
80,143,862 (GRCm39) |
missense |
probably benign |
0.08 |
R1874:Blm
|
UTSW |
7 |
80,147,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R1966:Blm
|
UTSW |
7 |
80,162,934 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1991:Blm
|
UTSW |
7 |
80,155,697 (GRCm39) |
splice site |
probably null |
|
R2013:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R2014:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R2015:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R2016:Blm
|
UTSW |
7 |
80,155,674 (GRCm39) |
missense |
probably benign |
0.26 |
R2161:Blm
|
UTSW |
7 |
80,131,118 (GRCm39) |
splice site |
probably null |
|
R2215:Blm
|
UTSW |
7 |
80,149,595 (GRCm39) |
missense |
possibly damaging |
0.69 |
R3689:Blm
|
UTSW |
7 |
80,162,827 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4049:Blm
|
UTSW |
7 |
80,152,610 (GRCm39) |
missense |
probably benign |
0.04 |
R4155:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R4695:Blm
|
UTSW |
7 |
80,143,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R4774:Blm
|
UTSW |
7 |
80,113,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R4833:Blm
|
UTSW |
7 |
80,116,574 (GRCm39) |
missense |
probably benign |
|
R4835:Blm
|
UTSW |
7 |
80,159,294 (GRCm39) |
missense |
probably benign |
0.41 |
R4994:Blm
|
UTSW |
7 |
80,108,573 (GRCm39) |
missense |
probably benign |
0.00 |
R5039:Blm
|
UTSW |
7 |
80,155,621 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5330:Blm
|
UTSW |
7 |
80,108,684 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5375:Blm
|
UTSW |
7 |
80,162,977 (GRCm39) |
missense |
probably benign |
0.00 |
R5408:Blm
|
UTSW |
7 |
80,152,370 (GRCm39) |
missense |
probably benign |
0.01 |
R5574:Blm
|
UTSW |
7 |
80,149,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R5606:Blm
|
UTSW |
7 |
80,110,580 (GRCm39) |
splice site |
probably null |
|
R5702:Blm
|
UTSW |
7 |
80,108,675 (GRCm39) |
missense |
probably benign |
0.13 |
R5809:Blm
|
UTSW |
7 |
80,114,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R6114:Blm
|
UTSW |
7 |
80,163,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R6157:Blm
|
UTSW |
7 |
80,162,733 (GRCm39) |
missense |
probably benign |
0.18 |
R6163:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R6254:Blm
|
UTSW |
7 |
80,130,090 (GRCm39) |
missense |
probably benign |
0.04 |
R6266:Blm
|
UTSW |
7 |
80,149,688 (GRCm39) |
missense |
probably benign |
0.03 |
R6364:Blm
|
UTSW |
7 |
80,144,274 (GRCm39) |
nonsense |
probably null |
|
R6446:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R6502:Blm
|
UTSW |
7 |
80,131,223 (GRCm39) |
missense |
probably damaging |
0.98 |
R6700:Blm
|
UTSW |
7 |
80,113,598 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7002:Blm
|
UTSW |
7 |
80,119,501 (GRCm39) |
missense |
probably benign |
0.00 |
R7105:Blm
|
UTSW |
7 |
80,149,516 (GRCm39) |
missense |
probably benign |
0.44 |
R7320:Blm
|
UTSW |
7 |
80,105,102 (GRCm39) |
nonsense |
probably null |
|
R7465:Blm
|
UTSW |
7 |
80,162,863 (GRCm39) |
missense |
probably benign |
0.02 |
R7561:Blm
|
UTSW |
7 |
80,152,276 (GRCm39) |
missense |
probably damaging |
0.99 |
R8500:Blm
|
UTSW |
7 |
80,105,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R8543:Blm
|
UTSW |
7 |
80,143,964 (GRCm39) |
missense |
probably damaging |
0.98 |
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,666 (GRCm39) |
small insertion |
probably benign |
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,667 (GRCm39) |
small insertion |
probably benign |
|
R8775-TAIL:Blm
|
UTSW |
7 |
80,162,679 (GRCm39) |
small insertion |
probably benign |
|
R8860:Blm
|
UTSW |
7 |
80,144,276 (GRCm39) |
missense |
probably benign |
0.30 |
R8928:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R9089:Blm
|
UTSW |
7 |
80,162,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R9363:Blm
|
UTSW |
7 |
80,108,663 (GRCm39) |
missense |
probably damaging |
1.00 |
RF001:Blm
|
UTSW |
7 |
80,162,675 (GRCm39) |
small insertion |
probably benign |
|
RF001:Blm
|
UTSW |
7 |
80,162,654 (GRCm39) |
small insertion |
probably benign |
|
RF001:Blm
|
UTSW |
7 |
80,162,651 (GRCm39) |
small insertion |
probably benign |
|
RF002:Blm
|
UTSW |
7 |
80,162,675 (GRCm39) |
small insertion |
probably benign |
|
RF002:Blm
|
UTSW |
7 |
80,162,653 (GRCm39) |
small insertion |
probably benign |
|
RF007:Blm
|
UTSW |
7 |
80,162,681 (GRCm39) |
nonsense |
probably null |
|
RF016:Blm
|
UTSW |
7 |
80,162,674 (GRCm39) |
nonsense |
probably null |
|
RF018:Blm
|
UTSW |
7 |
80,162,674 (GRCm39) |
nonsense |
probably null |
|
RF027:Blm
|
UTSW |
7 |
80,162,662 (GRCm39) |
frame shift |
probably null |
|
RF028:Blm
|
UTSW |
7 |
80,162,653 (GRCm39) |
nonsense |
probably null |
|
RF031:Blm
|
UTSW |
7 |
80,162,671 (GRCm39) |
small insertion |
probably benign |
|
RF031:Blm
|
UTSW |
7 |
80,162,654 (GRCm39) |
small insertion |
probably benign |
|
RF032:Blm
|
UTSW |
7 |
80,162,678 (GRCm39) |
small insertion |
probably benign |
|
RF036:Blm
|
UTSW |
7 |
80,162,662 (GRCm39) |
nonsense |
probably null |
|
RF044:Blm
|
UTSW |
7 |
80,162,678 (GRCm39) |
small insertion |
probably benign |
|
RF053:Blm
|
UTSW |
7 |
80,162,669 (GRCm39) |
small insertion |
probably benign |
|
RF064:Blm
|
UTSW |
7 |
80,162,671 (GRCm39) |
nonsense |
probably null |
|
X0061:Blm
|
UTSW |
7 |
80,108,598 (GRCm39) |
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 |