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 |
80104741-80184896 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC to GCCTCCTCCTCCTCCTCCTCCTCCTCC
at 80162652 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 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: 144,982,098 (GRCm39) |
Q228* |
probably null |
Het |
| Asic5 |
A |
G |
3: 81,913,833 (GRCm39) |
N169S |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,004,593 (GRCm39) |
L374H |
probably benign |
Het |
| Birc2 |
G |
A |
9: 7,819,036 (GRCm39) |
T544I |
probably benign |
Het |
| Cc2d2b |
C |
T |
19: 40,744,950 (GRCm39) |
T23I |
probably benign |
Het |
| Ccdc137 |
G |
T |
11: 120,350,927 (GRCm39) |
R108L |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 134,974,764 (GRCm39) |
I2308T |
probably damaging |
Het |
| Clec2m |
C |
T |
6: 129,303,710 (GRCm39) |
R85H |
probably benign |
Het |
| Cpt1b |
T |
C |
15: 89,308,620 (GRCm39) |
T103A |
probably benign |
Het |
| Cpvl |
C |
A |
6: 53,850,503 (GRCm39) |
V445F |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,434,950 (GRCm39) |
S303P |
possibly damaging |
Het |
| Cyp17a1 |
T |
A |
19: 46,657,761 (GRCm39) |
I264F |
possibly damaging |
Het |
| Cyp51 |
T |
A |
5: 4,150,199 (GRCm39) |
I175F |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,723,828 (GRCm39) |
P695S |
possibly damaging |
Het |
| Dlgap2 |
A |
T |
8: 14,896,641 (GRCm39) |
Q1039L |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,493,926 (GRCm39) |
L1694P |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,411,729 (GRCm39) |
Q298* |
probably null |
Het |
| Dsg2 |
G |
T |
18: 20,731,726 (GRCm39) |
|
probably null |
Het |
| Esr2 |
A |
C |
12: 76,168,643 (GRCm39) |
V522G |
probably damaging |
Het |
| Fmo9 |
T |
A |
1: 166,494,962 (GRCm39) |
H262L |
probably benign |
Het |
| Glb1l |
T |
A |
1: 75,178,051 (GRCm39) |
M373L |
probably benign |
Het |
| Gls |
A |
G |
1: 52,254,735 (GRCm39) |
S247P |
probably benign |
Het |
| Gm37240 |
T |
A |
3: 84,423,092 (GRCm39) |
E213D |
probably damaging |
Het |
| Gmip |
T |
A |
8: 70,270,022 (GRCm39) |
V675E |
probably benign |
Het |
| Grb10 |
C |
A |
11: 11,893,932 (GRCm39) |
E330* |
probably null |
Het |
| H2ac13 |
A |
T |
13: 21,900,859 (GRCm39) |
N90Y |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,005,736 (GRCm39) |
K778R |
probably damaging |
Het |
| Ighv1-26 |
T |
C |
12: 114,752,416 (GRCm39) |
S4G |
probably benign |
Het |
| Igkv3-3 |
T |
A |
6: 70,664,257 (GRCm39) |
V33E |
possibly damaging |
Het |
| Itga2 |
C |
A |
13: 115,002,726 (GRCm39) |
G588V |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,365,245 (GRCm39) |
H58Y |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,083,827 (GRCm39) |
D2365E |
possibly damaging |
Het |
| Limk1 |
T |
C |
5: 134,686,809 (GRCm39) |
Y518C |
probably damaging |
Het |
| Marchf6 |
G |
C |
15: 31,465,497 (GRCm39) |
H802Q |
probably benign |
Het |
| Mark2 |
A |
G |
19: 7,268,126 (GRCm39) |
S26P |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,716,040 (GRCm39) |
L2074Q |
probably damaging |
Het |
| Mrpl37 |
T |
C |
4: 106,921,793 (GRCm39) |
E174G |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,686,326 (GRCm39) |
H860R |
probably benign |
Het |
| Neurod1 |
A |
G |
2: 79,284,505 (GRCm39) |
F293L |
probably benign |
Het |
| Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
| Nwd2 |
C |
A |
5: 63,963,131 (GRCm39) |
A905E |
probably benign |
Het |
| Or14a260 |
A |
T |
7: 85,985,592 (GRCm39) |
I4N |
possibly damaging |
Het |
| Or1x6 |
T |
A |
11: 50,939,595 (GRCm39) |
Y220* |
probably null |
Het |
| Or5b12b |
A |
C |
19: 12,861,472 (GRCm39) |
T76P |
probably damaging |
Het |
| Or7e169 |
A |
G |
9: 19,757,024 (GRCm39) |
I297T |
probably benign |
Het |
| Otop1 |
C |
A |
5: 38,445,234 (GRCm39) |
|
probably null |
Het |
| Otp |
A |
G |
13: 95,012,288 (GRCm39) |
H4R |
probably damaging |
Het |
| P4htm |
A |
C |
9: 108,459,150 (GRCm39) |
Y261D |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,450,405 (GRCm39) |
C1148S |
probably damaging |
Het |
| Plekhg1 |
A |
T |
10: 3,914,369 (GRCm39) |
R1419W |
probably damaging |
Het |
| Pramel20 |
A |
G |
4: 143,298,605 (GRCm39) |
K183E |
probably damaging |
Het |
| Prkd3 |
C |
A |
17: 79,273,784 (GRCm39) |
D491Y |
possibly damaging |
Het |
| Prr11 |
A |
C |
11: 86,994,454 (GRCm39) |
L64R |
possibly damaging |
Het |
| Pygo1 |
G |
T |
9: 72,851,980 (GRCm39) |
A56S |
probably damaging |
Het |
| Rexo5 |
A |
G |
7: 119,404,470 (GRCm39) |
T189A |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,349,254 (GRCm39) |
H3784L |
possibly damaging |
Het |
| Rps6ka5 |
T |
G |
12: 100,562,179 (GRCm39) |
|
probably null |
Het |
| Slco2b1 |
T |
A |
7: 99,338,106 (GRCm39) |
I93F |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,894,690 (GRCm39) |
*408W |
probably null |
Het |
| Sptbn1 |
C |
A |
11: 30,109,443 (GRCm39) |
E51* |
probably null |
Het |
| Ssc5d |
T |
A |
7: 4,930,253 (GRCm39) |
H111Q |
probably damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,280,981 (GRCm39) |
N41D |
probably benign |
Het |
| Taar8c |
G |
A |
10: 23,977,116 (GRCm39) |
T232I |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,882,710 (GRCm39) |
E2G |
possibly damaging |
Het |
| Tff2 |
T |
C |
17: 31,363,152 (GRCm39) |
E24G |
probably benign |
Het |
| Tjp2 |
C |
A |
19: 24,103,068 (GRCm39) |
|
probably null |
Het |
| Tnfrsf1b |
A |
T |
4: 144,946,477 (GRCm39) |
D311E |
probably benign |
Het |
| Usp15 |
G |
T |
10: 123,004,210 (GRCm39) |
N181K |
probably damaging |
Het |
| Vmn1r175 |
T |
G |
7: 23,508,591 (GRCm39) |
E12A |
possibly damaging |
Het |
| Vmn1r47 |
T |
C |
6: 89,999,773 (GRCm39) |
S302P |
probably damaging |
Het |
| Vmn2r58 |
A |
G |
7: 41,486,825 (GRCm39) |
M690T |
probably benign |
Het |
| Wee1 |
T |
A |
7: 109,734,858 (GRCm39) |
H465Q |
probably damaging |
Het |
| Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
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 |
|
R2103:Blm
|
UTSW |
7 |
80,155,697 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- AACTGTCCTGTGTACCGCTG -3'
(R):5'- AGATGCGTTTGCTTCACTGG -3'
Sequencing Primer
(F):5'- CCCAGTGCTCAGCTTTAGATTAG -3'
(R):5'- GCTTCACTGGCTAAAAATCCTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation