Incidental Mutation 'FR4340:Blm'
| ID |
511132 |
| 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 # |
FR4340 ()
|
| Quality Score |
178.468 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80454733-80535119 bp(-) (GRCm38) |
| Type of Mutation |
small insertion (4 aa in frame mutation) |
| DNA Base Change (assembly) |
TCCTCCTCCTCCTCCTCCTCCTCC to TCCTCCTCCTCCGCCTCCTCCTCCTCCTCCTCCTCC
at 80512907 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 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: 99.7%
- 3x: 99.4%
- 10x: 97.8%
- 20x: 94.3%
|
| 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: 113 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
AACC |
A |
7: 40,993,055 (GRCm38) |
|
probably benign |
Het |
| 4930548H24Rik |
GAGAAG |
GAG |
5: 31,487,373 (GRCm38) |
|
probably benign |
Het |
| 4930578G10Rik |
G |
T |
4: 42,761,098 (GRCm38) |
|
probably benign |
Het |
| 4932438A13Rik |
TATTATTAT |
TATTATTATTATTATCATTATTAT |
3: 37,050,752 (GRCm38) |
|
probably benign |
Het |
| 7530416G11Rik |
T |
A |
15: 85,494,307 (GRCm38) |
E45V |
unknown |
Homo |
| A530032D15Rik |
A |
C |
1: 85,109,351 (GRCm38) |
N6K |
probably damaging |
Het |
| A530064D06Rik |
GTAGGAAGCTTAG |
GTAG |
17: 48,163,381 (GRCm38) |
|
probably benign |
Homo |
| Arpc1b |
CC |
CCTGGTC |
5: 145,126,792 (GRCm38) |
|
probably null |
Het |
| Arrb2 |
C |
T |
11: 70,438,671 (GRCm38) |
T269M |
probably damaging |
Homo |
| BC051142 |
GC |
GCAAC |
17: 34,460,077 (GRCm38) |
|
probably benign |
Het |
| BC051142 |
GCA |
GCATCA |
17: 34,460,068 (GRCm38) |
|
probably benign |
Het |
| BC051142 |
CAG |
CAGTAG |
17: 34,460,060 (GRCm38) |
|
probably null |
Het |
| Bcas3 |
G |
A |
11: 85,509,497 (GRCm38) |
V431I |
probably benign |
Homo |
| Cacna1a |
ACC |
ACCGCC |
8: 84,638,723 (GRCm38) |
|
probably benign |
Het |
| Cacna1f |
AGG |
AGGCGG |
X: 7,620,067 (GRCm38) |
|
probably benign |
Het |
| Calhm1 |
CTCTGTGGCTGTGGCTGTGGCTGTG |
CTCTGTGGCTGTGTCTGTGGCTGTGGCTGTGGCTGTG |
19: 47,141,251 (GRCm38) |
|
probably benign |
Het |
| Casz1 |
ACCACAGCCACAGCCACAGCCAC |
ACCACAGCCACAGCCAC |
4: 148,952,302 (GRCm38) |
|
probably benign |
Homo |
| Cd164 |
G |
T |
10: 41,521,926 (GRCm38) |
A59S |
probably benign |
Het |
| Cd22 |
C |
T |
7: 30,878,082 (GRCm38) |
R2H |
possibly damaging |
Homo |
| Cd80 |
GAA |
GAAAAA |
16: 38,486,316 (GRCm38) |
|
probably benign |
Homo |
| Col2a1 |
C |
A |
15: 97,988,981 (GRCm38) |
|
probably null |
Het |
| Col6a5 |
A |
T |
9: 105,934,174 (GRCm38) |
N715K |
unknown |
Homo |
| Crygc |
A |
T |
1: 65,071,663 (GRCm38) |
F155Y |
probably benign |
Het |
| Cul9 |
TCC |
TCCCCC |
17: 46,500,853 (GRCm38) |
|
probably benign |
Het |
| Cyp2d11 |
T |
TGGGA |
15: 82,390,022 (GRCm38) |
|
probably null |
Homo |
| D230025D16Rik |
G |
A |
8: 105,241,098 (GRCm38) |
G207E |
probably benign |
Homo |
| Dbr1 |
AGG |
AGGAGGCGG |
9: 99,583,701 (GRCm38) |
|
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,849,385 (GRCm38) |
G2817V |
probably damaging |
Homo |
| Dnah8 |
ACACTGCC |
AC |
17: 30,635,463 (GRCm38) |
|
probably benign |
Het |
| Dthd1 |
C |
CTTA |
5: 62,843,026 (GRCm38) |
|
probably benign |
Homo |
| Fam166b |
CAGAG |
CAG |
4: 43,427,384 (GRCm38) |
|
probably null |
Homo |
| Fam45a |
CT |
CTTTT |
19: 60,814,621 (GRCm38) |
|
probably benign |
Homo |
| Frem3 |
CT |
CTTTT |
8: 80,615,241 (GRCm38) |
|
probably benign |
Homo |
| Frmpd2 |
G |
T |
14: 33,511,021 (GRCm38) |
L399F |
probably damaging |
Homo |
| G530012D18Rik |
CACACAGAGAGAGAGAGAGAGAGAGA |
CA |
1: 85,577,152 (GRCm38) |
|
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,603,652 (GRCm38) |
I175V |
probably benign |
Het |
| Gm14393 |
T |
C |
2: 175,061,634 (GRCm38) |
E160G |
possibly damaging |
Het |
| Gm16519 |
A |
AGAAC |
17: 70,929,338 (GRCm38) |
|
probably null |
Homo |
| Gm4340 |
CAGAAG |
CAGAAGAAG |
10: 104,196,099 (GRCm38) |
|
probably benign |
Het |
| Gm4340 |
GCAG |
GCAACAG |
10: 104,196,098 (GRCm38) |
|
probably benign |
Het |
| Gm4340 |
CAG |
CAGTAG |
10: 104,196,075 (GRCm38) |
|
probably null |
Het |
| Gpatch11 |
AGGAAG |
AGGAAGGGGAAG |
17: 78,842,174 (GRCm38) |
|
probably benign |
Het |
| H2-Q4 |
G |
A |
17: 35,380,405 (GRCm38) |
D155N |
probably damaging |
Het |
| Ifi208 |
ATGGTG |
ATG |
1: 173,677,698 (GRCm38) |
|
probably benign |
Homo |
| Ighv5-9 |
C |
T |
12: 113,661,877 (GRCm38) |
S82N |
probably benign |
Homo |
| Ipo9 |
CTC |
CTCTTC |
1: 135,386,271 (GRCm38) |
|
probably benign |
Het |
| Ipo9 |
TCC |
TCCCCC |
1: 135,386,269 (GRCm38) |
|
probably benign |
Het |
| Isg20l2 |
AAG |
AAGTAG |
3: 87,931,712 (GRCm38) |
|
probably null |
Het |
| Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,586,375 (GRCm38) |
|
probably benign |
Het |
| Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,586,369 (GRCm38) |
|
probably benign |
Het |
| Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,586,363 (GRCm38) |
|
probably benign |
Het |
| Krt10 |
CCTCCT |
CCTCCTTCTCCT |
11: 99,389,274 (GRCm38) |
|
probably benign |
Het |
| Krt10 |
ACCG |
ACCGCCG |
11: 99,386,203 (GRCm38) |
|
probably benign |
Homo |
| Krt10 |
CAC |
CACGAC |
11: 99,386,202 (GRCm38) |
|
probably benign |
Het |
| Las1l |
TCCTC |
TCCTCTACCTC |
X: 95,940,622 (GRCm38) |
|
probably benign |
Het |
| Lce1a1 |
C |
T |
3: 92,646,844 (GRCm38) |
G108S |
unknown |
Het |
| Lkaaear1 |
CCAGCTCCAG |
CCAGCTCCAGCTGCAGCTCCAG |
2: 181,697,594 (GRCm38) |
|
probably benign |
Het |
| Lrit3 |
CTG |
CTGTTG |
3: 129,788,808 (GRCm38) |
|
probably benign |
Het |
| Mamld1 |
CAG |
CAGAAG |
X: 71,118,846 (GRCm38) |
|
probably benign |
Het |
| Mapk7 |
TGCTGGCGCTGGTGCTGGCGCTGG |
TGCTGGCGCTGGCGCTGGTGCTGGCGCTGG |
11: 61,490,206 (GRCm38) |
|
probably benign |
Het |
| Mast4 |
TTTT |
TTTTATTT |
13: 102,734,857 (GRCm38) |
|
probably null |
Het |
| Mast4 |
GCA |
GCAGTGTCA |
13: 102,736,317 (GRCm38) |
|
probably benign |
Homo |
| Med12l |
AGC |
AGCCGC |
3: 59,275,985 (GRCm38) |
|
probably benign |
Het |
| Mfsd5 |
G |
A |
15: 102,281,161 (GRCm38) |
V323I |
probably benign |
Het |
| Nacad |
GTC |
GTCAGGATC |
11: 6,599,761 (GRCm38) |
|
probably benign |
Het |
| Naip1 |
A |
C |
13: 100,423,076 (GRCm38) |
M1140R |
probably benign |
Het |
| Nbea |
TTTA |
T |
3: 56,009,212 (GRCm38) |
|
probably benign |
Homo |
| Nefh |
CTCACCTGGGGACTTGGCCTC |
CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,941,040 (GRCm38) |
|
probably benign |
Homo |
| Nefh |
GCCTCACCTGGGGACTTGGCCTC |
GCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,941,038 (GRCm38) |
|
probably benign |
Homo |
| Nefh |
ACTTGGCCTCACCTGGGG |
ACTTGGCCTCACCTGGGGCCTTGGCCTCACCTGGGG |
11: 4,941,033 (GRCm38) |
|
probably benign |
Het |
| Neu1 |
TCTTCTA |
T |
17: 34,932,558 (GRCm38) |
|
probably benign |
Het |
| Nutf2 |
G |
T |
8: 105,876,570 (GRCm38) |
D78Y |
probably damaging |
Het |
| Olfr495 |
G |
A |
7: 108,395,898 (GRCm38) |
M259I |
probably benign |
Het |
| Olfr495 |
A |
G |
7: 108,395,893 (GRCm38) |
T258A |
probably benign |
Het |
| Olfr513 |
AT |
ATGATATT |
7: 108,754,954 (GRCm38) |
|
probably benign |
Homo |
| Olfr635 |
TCC |
TCCC |
7: 103,979,903 (GRCm38) |
|
probably null |
Het |
| Park2 |
G |
A |
17: 11,854,763 (GRCm38) |
V323M |
probably damaging |
Homo |
| Pdik1l |
ACCAC |
ACCACCCCCAC |
4: 134,279,512 (GRCm38) |
|
probably benign |
Het |
| Pik3c2g |
AG |
AGAGGG |
6: 139,635,656 (GRCm38) |
|
probably null |
Homo |
| Plekhs1 |
TCCAGAC |
TCCAGACCTCCCCCCAGAC |
19: 56,479,858 (GRCm38) |
|
probably benign |
Homo |
| Prag1 |
C |
CAGT |
8: 36,103,886 (GRCm38) |
|
probably benign |
Homo |
| Pramef25 |
G |
A |
4: 143,949,742 (GRCm38) |
T264M |
probably damaging |
Het |
| Raet1d |
A |
G |
10: 22,371,559 (GRCm38) |
Q178R |
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,070,808 (GRCm38) |
K70N |
probably damaging |
Homo |
| Serpina3i |
CGG |
CGGTGG |
12: 104,265,164 (GRCm38) |
|
probably benign |
Het |
| Sfswap |
ACTCAGCCC |
ACTCAGCCCCCTCAGCCC |
5: 129,569,751 (GRCm38) |
|
probably benign |
Het |
| Six3 |
CGG |
CGGGGG |
17: 85,621,356 (GRCm38) |
|
probably benign |
Het |
| Speer4a |
C |
A |
5: 26,036,748 (GRCm38) |
E127* |
probably null |
Het |
| Sry |
GCTGCTGCTGCTG |
GCTGCTGCTGCTGCTG |
Y: 2,662,824 (GRCm38) |
|
probably benign |
Het |
| St5 |
CACCACACTGGGGCAGCCCACACTGGGGCAG |
CCCCACACTGGGGCAG |
7: 109,556,921 (GRCm38) |
|
probably benign |
Het |
| Tbr1 |
A |
C |
2: 61,806,347 (GRCm38) |
|
probably benign |
Het |
| Tdpoz2 |
T |
TCC |
3: 93,651,615 (GRCm38) |
|
probably null |
Homo |
| Tdpoz4 |
GAA |
GA |
3: 93,796,880 (GRCm38) |
|
probably null |
Het |
| Tgoln1 |
AAG |
AAGCCTCAG |
6: 72,616,351 (GRCm38) |
|
probably benign |
Homo |
| Tmbim7 |
C |
T |
5: 3,670,064 (GRCm38) |
R100C |
possibly damaging |
Het |
| Tob1 |
CA |
CAGAA |
11: 94,214,477 (GRCm38) |
|
probably benign |
Het |
| Tob1 |
AGC |
AGCCGC |
11: 94,214,460 (GRCm38) |
|
probably benign |
Het |
| Tob1 |
AGC |
AGCCGC |
11: 94,214,454 (GRCm38) |
|
probably benign |
Het |
| Tomm5 |
GCATCTTCC |
GCATCTTCCACATCTTCC |
4: 45,107,973 (GRCm38) |
|
probably benign |
Het |
| Triobp |
TCGG |
TCGGCGG |
15: 78,993,390 (GRCm38) |
|
probably benign |
Homo |
| Tsen2 |
AGG |
AGGGGG |
6: 115,560,069 (GRCm38) |
|
probably benign |
Homo |
| Tsen2 |
AGG |
AGGGGG |
6: 115,560,066 (GRCm38) |
|
probably benign |
Homo |
| Ubtf |
TCC |
TCCCCC |
11: 102,306,950 (GRCm38) |
|
probably benign |
Het |
| Vmn2r87 |
C |
T |
10: 130,478,714 (GRCm38) |
M334I |
probably benign |
Homo |
| Zc3h13 |
CGGGATGTGCG |
CGGGATGTGCGGGATGTGCG |
14: 75,323,592 (GRCm38) |
|
probably benign |
Homo |
| Zfp28 |
G |
A |
7: 6,394,863 (GRCm38) |
G766R |
probably damaging |
Het |
| Zfp384 |
AAGCCCAGGCCCAGGCCCAGGCCCA |
AAGCCCAGGCCCAAGCCCAGGCCCAGGCCCAGGCCCA |
6: 125,036,463 (GRCm38) |
|
probably benign |
Het |
| Zfp428 |
G |
A |
7: 24,515,081 (GRCm38) |
D41N |
probably damaging |
Homo |
| Zfp598 |
CCACAGGC |
CC |
17: 24,679,372 (GRCm38) |
|
probably benign |
Het |
| Zfp598 |
CCACCA |
CCACCAACACCA |
17: 24,680,783 (GRCm38) |
|
probably benign |
Het |
| Zfp831 |
TCC |
TCCCCC |
2: 174,645,480 (GRCm38) |
|
probably benign |
Het |
| Zfp933 |
GCTT |
GCTTTTCTT |
4: 147,825,729 (GRCm38) |
|
probably null |
Homo |
| Zfp936 |
G |
A |
7: 43,189,489 (GRCm38) |
G127R |
possibly damaging |
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 |
80,463,767 (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 |
|
R2103:Blm
|
UTSW |
7 |
80,505,949 (GRCm38) |
splice site |
probably null |
|
|
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 |
80,512,919 (GRCm38) |
small insertion |
probably benign |
|
|
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 |
|
|
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 |
80,512,903 (GRCm38) |
small insertion |
probably benign |
|
|
RF001:Blm
|
UTSW |
7 |
80,512,906 (GRCm38) |
small insertion |
probably benign |
|
|
RF002:Blm
|
UTSW |
7 |
80,512,905 (GRCm38) |
small insertion |
probably benign |
|
|
RF002:Blm
|
UTSW |
7 |
80,512,927 (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'- AACTGTCCTGTGTACCGCTG -3'
(R):5'- ATGCGTTTGCTTCACTGGC -3'
Sequencing Primer
(F):5'- CCCAGTGCTCAGCTTTAGATTAG -3'
(R):5'- GCTTCACTGGCTAAAAATCCTG -3'
|
| Posted On |
2018-04-05 |
Incidental Mutation