Incidental Mutation 'R1874:Blm'
| ID |
211045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blm
|
| Ensembl Gene |
ENSMUSG00000030528 |
| Gene Name |
Bloom syndrome, RecQ like helicase |
| Synonyms |
|
| MMRRC Submission |
039896-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1874 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80104741-80184896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80147166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 738
(L738P)
|
| 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: L735P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: L735P
| 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: L738P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: L738P
| 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 |
0.9733 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.8%
- 20x: 94.1%
|
| Validation Efficiency |
96% (105/109) |
| 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: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
G |
1: 130,670,428 (GRCm39) |
S217G |
probably benign |
Het |
| Adrb3 |
C |
A |
8: 27,717,591 (GRCm39) |
R286L |
probably damaging |
Het |
| Akap11 |
T |
A |
14: 78,749,306 (GRCm39) |
D1027V |
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,733,913 (GRCm39) |
I726F |
probably damaging |
Het |
| Ankmy2 |
T |
A |
12: 36,215,930 (GRCm39) |
D43E |
possibly damaging |
Het |
| Ankrd34b |
A |
G |
13: 92,576,064 (GRCm39) |
D432G |
probably damaging |
Het |
| Ano3 |
A |
C |
2: 110,715,217 (GRCm39) |
S74A |
probably benign |
Het |
| B4galnt4 |
T |
A |
7: 140,650,439 (GRCm39) |
S769T |
probably damaging |
Het |
| Bicral |
T |
A |
17: 47,136,104 (GRCm39) |
T369S |
probably benign |
Het |
| Bpifb3 |
A |
G |
2: 153,767,760 (GRCm39) |
T278A |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,069,122 (GRCm39) |
|
probably benign |
Het |
| Brd8 |
G |
C |
18: 34,743,527 (GRCm39) |
P266R |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,957,983 (GRCm39) |
M587L |
probably benign |
Het |
| Casz1 |
C |
G |
4: 149,027,668 (GRCm39) |
T1015S |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,272,597 (GRCm39) |
I524T |
possibly damaging |
Het |
| Celsr3 |
T |
C |
9: 108,713,037 (GRCm39) |
V1825A |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,416,013 (GRCm39) |
L104P |
probably damaging |
Het |
| Clasp1 |
G |
T |
1: 118,528,315 (GRCm39) |
|
probably null |
Het |
| Coprs |
A |
G |
8: 13,935,112 (GRCm39) |
W148R |
probably damaging |
Het |
| Cpne1 |
A |
G |
2: 155,920,302 (GRCm39) |
S168P |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,661,563 (GRCm39) |
Y408C |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 63,339,886 (GRCm39) |
E24G |
possibly damaging |
Het |
| Cubn |
T |
A |
2: 13,327,813 (GRCm39) |
S2671C |
probably damaging |
Het |
| Cyp4f39 |
T |
A |
17: 32,702,298 (GRCm39) |
F265Y |
probably damaging |
Het |
| Dgkq |
C |
A |
5: 108,808,461 (GRCm39) |
R34L |
probably benign |
Het |
| Dnajc7 |
C |
T |
11: 100,490,139 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
G |
11: 29,781,136 (GRCm39) |
D632A |
probably damaging |
Het |
| Fbxl18 |
G |
A |
5: 142,871,978 (GRCm39) |
A419V |
probably damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,214,179 (GRCm39) |
C212* |
probably null |
Het |
| Ffar2 |
A |
G |
7: 30,518,839 (GRCm39) |
|
probably null |
Het |
| Fga |
A |
T |
3: 82,940,028 (GRCm39) |
T561S |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,269,386 (GRCm39) |
Y159C |
probably damaging |
Het |
| Gal3st1 |
A |
G |
11: 3,948,231 (GRCm39) |
Y146C |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,596,033 (GRCm39) |
H788Q |
probably damaging |
Het |
| Gimap7 |
G |
A |
6: 48,700,449 (GRCm39) |
V12I |
possibly damaging |
Het |
| Gli2 |
C |
A |
1: 118,929,779 (GRCm39) |
A43S |
possibly damaging |
Het |
| Gm15446 |
T |
C |
5: 110,090,419 (GRCm39) |
F224L |
probably damaging |
Het |
| Gm21738 |
C |
T |
14: 19,418,824 (GRCm38) |
V35I |
possibly damaging |
Het |
| Grhl1 |
T |
C |
12: 24,636,155 (GRCm39) |
|
probably benign |
Het |
| Grk6 |
T |
C |
13: 55,598,086 (GRCm39) |
Y53H |
probably damaging |
Het |
| Hcar1 |
C |
T |
5: 124,017,328 (GRCm39) |
R121K |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,596,446 (GRCm39) |
S1797A |
probably damaging |
Het |
| Hsd17b7 |
A |
T |
1: 169,783,562 (GRCm39) |
L282Q |
possibly damaging |
Het |
| Irs1 |
TTCTCTGAGTGGCCACAGCGTCT |
TTCT |
1: 82,267,574 (GRCm39) |
|
probably null |
Het |
| Kif1b |
C |
T |
4: 149,272,089 (GRCm39) |
V1571I |
probably benign |
Het |
| Lpl |
T |
A |
8: 69,349,271 (GRCm39) |
C266S |
probably damaging |
Het |
| Mag |
G |
A |
7: 30,608,476 (GRCm39) |
H213Y |
probably benign |
Het |
| Mansc4 |
T |
G |
6: 146,976,688 (GRCm39) |
R309S |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,284,287 (GRCm39) |
|
probably null |
Het |
| Mndal |
G |
A |
1: 173,687,933 (GRCm39) |
|
probably benign |
Het |
| Mrgpra2b |
T |
A |
7: 47,113,742 (GRCm39) |
E330V |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,984,005 (GRCm39) |
I990V |
probably benign |
Het |
| Myoz2 |
A |
T |
3: 122,819,765 (GRCm39) |
S65T |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,593,183 (GRCm39) |
E463G |
possibly damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,351,581 (GRCm39) |
F684S |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,371,591 (GRCm39) |
E286G |
possibly damaging |
Het |
| Nynrin |
A |
T |
14: 56,100,950 (GRCm39) |
I247L |
probably benign |
Het |
| Oprm1 |
A |
G |
10: 6,739,035 (GRCm39) |
H54R |
probably benign |
Het |
| Or10g6 |
T |
A |
9: 39,934,151 (GRCm39) |
I154N |
possibly damaging |
Het |
| Or2n1d |
C |
T |
17: 38,646,860 (GRCm39) |
P271S |
probably damaging |
Het |
| Or51a43 |
T |
C |
7: 103,717,336 (GRCm39) |
I301V |
probably null |
Het |
| P4hb |
C |
T |
11: 120,452,992 (GRCm39) |
D483N |
probably benign |
Het |
| Pak1 |
T |
C |
7: 97,520,787 (GRCm39) |
S149P |
probably benign |
Het |
| Pars2 |
T |
C |
4: 106,510,913 (GRCm39) |
F232L |
possibly damaging |
Het |
| Pih1d2 |
A |
G |
9: 50,532,245 (GRCm39) |
M88V |
possibly damaging |
Het |
| Pms1 |
A |
T |
1: 53,246,392 (GRCm39) |
N382K |
probably benign |
Het |
| Pnliprp2 |
G |
T |
19: 58,751,821 (GRCm39) |
V189L |
probably benign |
Het |
| Pole |
G |
A |
5: 110,471,530 (GRCm39) |
V1425M |
possibly damaging |
Het |
| Pot1b |
T |
A |
17: 55,961,805 (GRCm39) |
Q591L |
probably benign |
Het |
| Ppp1r9a |
C |
T |
6: 4,906,348 (GRCm39) |
T301M |
possibly damaging |
Het |
| Psg21 |
T |
C |
7: 18,384,741 (GRCm39) |
E335G |
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,497,066 (GRCm39) |
M1416L |
probably benign |
Het |
| Pxn |
T |
C |
5: 115,683,049 (GRCm39) |
V117A |
probably damaging |
Het |
| Qsox1 |
C |
T |
1: 155,688,385 (GRCm39) |
R54H |
possibly damaging |
Het |
| Rad1 |
A |
G |
15: 10,488,092 (GRCm39) |
E42G |
probably damaging |
Het |
| Rpp14 |
A |
G |
14: 8,090,145 (GRCm38) |
Y23C |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,725,782 (GRCm39) |
V1156I |
probably benign |
Het |
| Serpina3j |
G |
T |
12: 104,285,958 (GRCm39) |
R371L |
probably benign |
Het |
| Serpinb9d |
T |
A |
13: 33,381,946 (GRCm39) |
|
probably null |
Het |
| Sirt5 |
C |
T |
13: 43,524,267 (GRCm39) |
S13F |
possibly damaging |
Het |
| Slc6a7 |
T |
A |
18: 61,134,470 (GRCm39) |
|
probably benign |
Het |
| Slx4 |
A |
G |
16: 3,804,712 (GRCm39) |
S701P |
probably benign |
Het |
| Snx29 |
A |
G |
16: 11,185,545 (GRCm39) |
T43A |
probably benign |
Het |
| Speg |
T |
C |
1: 75,400,550 (GRCm39) |
V2570A |
probably benign |
Het |
| Srrm4 |
T |
A |
5: 116,591,565 (GRCm39) |
|
probably benign |
Het |
| Stk32a |
A |
G |
18: 43,394,381 (GRCm39) |
Y110C |
probably damaging |
Het |
| Tbc1d31 |
G |
A |
15: 57,779,506 (GRCm39) |
G73E |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,555,434 (GRCm39) |
I150N |
possibly damaging |
Het |
| Tjp1 |
A |
T |
7: 64,969,001 (GRCm39) |
D699E |
probably damaging |
Het |
| Tmem143 |
A |
G |
7: 45,565,988 (GRCm39) |
D437G |
possibly damaging |
Het |
| Tmem45a2 |
A |
G |
16: 56,867,447 (GRCm39) |
Y85H |
possibly damaging |
Het |
| Tmem45b |
T |
A |
9: 31,340,383 (GRCm39) |
T7S |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,407,922 (GRCm39) |
V1397D |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,432,428 (GRCm39) |
L832P |
probably damaging |
Het |
| Ugp2 |
G |
T |
11: 21,279,048 (GRCm39) |
F379L |
probably damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,365,437 (GRCm39) |
D350V |
probably damaging |
Het |
| Vmn2r8 |
T |
A |
5: 108,950,284 (GRCm39) |
T188S |
possibly damaging |
Het |
| Vwa7 |
C |
G |
17: 35,236,088 (GRCm39) |
P14R |
probably benign |
Het |
| Vwc2 |
C |
A |
11: 11,211,495 (GRCm39) |
T317K |
probably damaging |
Het |
| Vwf |
A |
T |
6: 125,605,335 (GRCm39) |
Q906L |
probably benign |
Het |
| Wdr49 |
A |
G |
3: 75,336,654 (GRCm39) |
V351A |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,861,575 (GRCm39) |
S196G |
probably benign |
Het |
| Xkr6 |
C |
A |
14: 64,035,745 (GRCm39) |
A26E |
unknown |
Het |
| Zfp955b |
T |
C |
17: 33,524,427 (GRCm39) |
I47V |
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 |
|
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 |
|
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'- CCCACATCAGGAAAATGTAGGC -3'
(R):5'- CCCTGTGGGTAATACTATTTAATGC -3'
Sequencing Primer
(F):5'- TCAGGAAAATGTAGGCTAAGAGTTC -3'
(R):5'- TGTCTCTTAGGAGGAGGTA -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation