Incidental Mutation 'R4994:Blm'
ID |
385097 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Blm
|
Ensembl Gene |
ENSMUSG00000030528 |
Gene Name |
Bloom syndrome, RecQ like helicase |
Synonyms |
|
MMRRC Submission |
042588-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4994 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
80104741-80184896 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 80108573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Cysteine
at position 1357
(F1357C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127995
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081314]
[ENSMUST00000170315]
|
AlphaFold |
O88700 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081314
AA Change: F1354C
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000080062 Gene: ENSMUSG00000030528 AA Change: F1354C
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: F1357C
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000127995 Gene: ENSMUSG00000030528 AA Change: F1357C
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: ENSMUST00000206518
|
Predicted Effect |
unknown
Transcript: ENSMUST00000206901
AA Change: F92C
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206948
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206989
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
100% (79/79) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
G |
8: 73,208,962 (GRCm39) |
E364G |
probably benign |
Het |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Abcb4 |
A |
G |
5: 8,978,524 (GRCm39) |
T557A |
probably damaging |
Het |
Acadm |
C |
T |
3: 153,635,221 (GRCm39) |
E298K |
probably damaging |
Het |
Adrb3 |
T |
C |
8: 27,717,855 (GRCm39) |
|
probably null |
Het |
Aldh1b1 |
A |
G |
4: 45,803,128 (GRCm39) |
Y222C |
possibly damaging |
Het |
Ankrd6 |
A |
G |
4: 32,860,387 (GRCm39) |
Y19H |
probably damaging |
Het |
Arhgap21 |
T |
A |
2: 20,854,701 (GRCm39) |
T1554S |
probably benign |
Het |
BC043934 |
T |
C |
9: 96,319,173 (GRCm39) |
|
noncoding transcript |
Het |
Birc6 |
A |
G |
17: 74,901,319 (GRCm39) |
|
probably benign |
Het |
Cd209a |
T |
C |
8: 3,797,713 (GRCm39) |
|
probably null |
Het |
Cdk7 |
G |
A |
13: 100,854,103 (GRCm39) |
H129Y |
probably damaging |
Het |
Clec14a |
G |
T |
12: 58,315,070 (GRCm39) |
P184Q |
probably damaging |
Het |
Cma1 |
T |
A |
14: 56,179,128 (GRCm39) |
I243F |
probably damaging |
Het |
Cntnap3 |
G |
T |
13: 64,909,798 (GRCm39) |
T769K |
possibly damaging |
Het |
Col5a1 |
A |
C |
2: 27,922,751 (GRCm39) |
K273T |
possibly damaging |
Het |
Csnk1e |
A |
G |
15: 79,309,129 (GRCm39) |
Y266H |
probably damaging |
Het |
Cyb5d1 |
A |
G |
11: 69,284,597 (GRCm39) |
L185S |
probably damaging |
Het |
Dennd5b |
T |
C |
6: 148,942,998 (GRCm39) |
|
probably null |
Het |
Dipk2a |
C |
A |
9: 94,419,486 (GRCm39) |
R148L |
probably benign |
Het |
Drp2 |
G |
A |
X: 133,342,065 (GRCm39) |
R567H |
probably damaging |
Homo |
Dzank1 |
T |
G |
2: 144,364,486 (GRCm39) |
D37A |
probably damaging |
Het |
Echdc2 |
A |
G |
4: 108,022,825 (GRCm39) |
I34V |
probably benign |
Het |
Esm1 |
A |
T |
13: 113,349,965 (GRCm39) |
R128S |
probably benign |
Het |
Fbh1 |
T |
A |
2: 11,769,041 (GRCm39) |
I251F |
probably damaging |
Het |
Fbrsl1 |
A |
G |
5: 110,595,817 (GRCm39) |
S73P |
probably damaging |
Het |
Fbxo6 |
A |
T |
4: 148,233,948 (GRCm39) |
S49R |
probably damaging |
Het |
Gm17093 |
A |
T |
14: 44,756,779 (GRCm39) |
Q82L |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,348,067 (GRCm39) |
|
probably null |
Het |
Hspa4l |
C |
A |
3: 40,700,081 (GRCm39) |
|
probably benign |
Het |
Il3ra |
G |
A |
14: 14,351,080 (GRCm38) |
A201T |
probably benign |
Het |
Irx5 |
T |
A |
8: 93,087,409 (GRCm39) |
V447E |
probably damaging |
Het |
Kif14 |
G |
T |
1: 136,410,697 (GRCm39) |
L668F |
probably damaging |
Het |
Lag3 |
T |
A |
6: 124,881,416 (GRCm39) |
R519W |
unknown |
Het |
Lgr4 |
A |
G |
2: 109,842,283 (GRCm39) |
N756S |
probably damaging |
Het |
Lingo4 |
A |
G |
3: 94,309,848 (GRCm39) |
H262R |
probably benign |
Het |
Lingo4 |
T |
A |
3: 94,310,308 (GRCm39) |
H415Q |
probably benign |
Het |
Lkaaear1 |
C |
A |
2: 181,339,376 (GRCm39) |
G25* |
probably null |
Het |
Maco1 |
A |
G |
4: 134,555,610 (GRCm39) |
Y288H |
probably damaging |
Het |
Marf1 |
T |
C |
16: 13,932,095 (GRCm39) |
K1641E |
probably benign |
Het |
Mtfmt |
T |
C |
9: 65,351,133 (GRCm39) |
|
probably benign |
Het |
Mtif3 |
G |
A |
5: 146,893,598 (GRCm39) |
T203M |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,407,430 (GRCm39) |
I2740T |
probably benign |
Het |
Nrdc |
A |
G |
4: 108,903,809 (GRCm39) |
T720A |
probably benign |
Het |
Or2d2 |
T |
C |
7: 106,728,271 (GRCm39) |
T110A |
probably benign |
Het |
Peak1 |
T |
A |
9: 56,148,560 (GRCm39) |
D32V |
possibly damaging |
Het |
Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
Plekhg3 |
A |
G |
12: 76,612,311 (GRCm39) |
R391G |
possibly damaging |
Het |
Ppfia3 |
T |
C |
7: 44,990,542 (GRCm39) |
D919G |
probably damaging |
Het |
Pramel23 |
T |
A |
4: 143,424,939 (GRCm39) |
Q168L |
possibly damaging |
Het |
Rnase2b |
T |
A |
14: 51,400,208 (GRCm39) |
D96E |
possibly damaging |
Het |
Rsf1 |
CGGCGGC |
CGGCGGCCGCGGCGGC |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Serpina3f |
A |
G |
12: 104,186,615 (GRCm39) |
T394A |
probably benign |
Het |
Six3 |
A |
G |
17: 85,928,720 (GRCm39) |
N18S |
possibly damaging |
Het |
Slc12a5 |
T |
A |
2: 164,825,285 (GRCm39) |
|
probably null |
Het |
Slc35f6 |
A |
G |
5: 30,805,427 (GRCm39) |
N21S |
probably damaging |
Het |
Slc39a6 |
A |
T |
18: 24,729,351 (GRCm39) |
I454N |
probably damaging |
Het |
Slc40a1 |
T |
A |
1: 45,948,824 (GRCm39) |
E485D |
probably damaging |
Het |
Sort1 |
G |
A |
3: 108,235,385 (GRCm39) |
C255Y |
probably damaging |
Het |
Stab2 |
T |
A |
10: 86,785,771 (GRCm39) |
T624S |
probably benign |
Het |
Stk33 |
T |
A |
7: 108,939,605 (GRCm39) |
I99L |
probably benign |
Het |
Taf4b |
T |
A |
18: 15,031,100 (GRCm39) |
I828N |
probably damaging |
Het |
Terf2 |
T |
C |
8: 107,803,110 (GRCm39) |
|
probably benign |
Het |
Timd4 |
C |
T |
11: 46,706,344 (GRCm39) |
R49C |
probably damaging |
Het |
Tpte |
T |
C |
8: 22,808,362 (GRCm39) |
S166P |
probably benign |
Het |
Trabd2b |
T |
C |
4: 114,264,052 (GRCm39) |
L13P |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,975,476 (GRCm39) |
Y247* |
probably null |
Het |
Trnt1 |
C |
T |
6: 106,755,853 (GRCm39) |
Q303* |
probably null |
Het |
Tspyl5 |
T |
A |
15: 33,687,201 (GRCm39) |
Q248L |
possibly damaging |
Het |
Ubxn7 |
A |
T |
16: 32,200,322 (GRCm39) |
K337N |
probably damaging |
Het |
Unc13a |
T |
A |
8: 72,095,816 (GRCm39) |
I1234F |
probably benign |
Het |
Vmn1r127 |
A |
T |
7: 21,052,943 (GRCm39) |
F282I |
probably damaging |
Het |
Wdhd1 |
A |
T |
14: 47,506,111 (GRCm39) |
|
probably null |
Het |
Zfp605 |
A |
G |
5: 110,275,352 (GRCm39) |
K157E |
probably damaging |
Het |
Zhx2 |
T |
A |
15: 57,684,755 (GRCm39) |
D41E |
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 |
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 |
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'- ACGGCCGTGTTATTTACTCAG -3'
(R):5'- TGTAGCTGAGGATGGTTCCC -3'
Sequencing Primer
(F):5'- TCCAAGGTAAAGTCAAAGTTTGAG -3'
(R):5'- TGAGGATGGTTCCCCAGGC -3'
|
Posted On |
2016-05-10 |