Incidental Mutation 'FR4340:Blm'
| ID |
511133 |
| 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 |
195.468 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80104741-80184896 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (4 aa in frame mutation) |
| DNA Base Change (assembly) |
TCCTCCTCCTCCTCCTCCTCCTCC to TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC
at 80162658 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: 99.7%
- 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: 40,642,479 (GRCm39) |
|
probably benign |
Het |
| 4930578G10Rik |
G |
T |
4: 42,761,098 (GRCm39) |
|
probably benign |
Het |
| 7530416G11Rik |
T |
A |
15: 85,378,508 (GRCm39) |
E45V |
unknown |
Homo |
| A530064D06Rik |
GTAGGAAGCTTAG |
GTAG |
17: 48,470,549 (GRCm39) |
|
probably benign |
Homo |
| Arpc1b |
CC |
CCTGGTC |
5: 145,063,602 (GRCm39) |
|
probably null |
Het |
| Arrb2 |
C |
T |
11: 70,329,497 (GRCm39) |
T269M |
probably damaging |
Homo |
| Bcas3 |
G |
A |
11: 85,400,323 (GRCm39) |
V431I |
probably benign |
Homo |
| Bltp1 |
TATTATTAT |
TATTATTATTATTATCATTATTAT |
3: 37,104,901 (GRCm39) |
|
probably benign |
Het |
| Cacna1a |
ACC |
ACCGCC |
8: 85,365,352 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
AGG |
AGGCGG |
X: 7,486,306 (GRCm39) |
|
probably benign |
Het |
| Calhm1 |
CTCTGTGGCTGTGGCTGTGGCTGTG |
CTCTGTGGCTGTGTCTGTGGCTGTGGCTGTGGCTGTG |
19: 47,129,690 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
ACCACAGCCACAGCCACAGCCAC |
ACCACAGCCACAGCCAC |
4: 149,036,759 (GRCm39) |
|
probably benign |
Homo |
| Ccdc121 |
GAGAAG |
GAG |
5: 31,644,717 (GRCm39) |
|
probably benign |
Het |
| Cd164 |
G |
T |
10: 41,397,922 (GRCm39) |
A59S |
probably benign |
Het |
| Cd22 |
C |
T |
7: 30,577,507 (GRCm39) |
R2H |
possibly damaging |
Homo |
| Cd80 |
GAA |
GAAAAA |
16: 38,306,678 (GRCm39) |
|
probably benign |
Homo |
| Cimip2b |
CAGAG |
CAG |
4: 43,427,384 (GRCm39) |
|
probably null |
Homo |
| Col2a1 |
C |
A |
15: 97,886,862 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
A |
T |
9: 105,811,373 (GRCm39) |
N715K |
unknown |
Homo |
| Crygc |
A |
T |
1: 65,110,822 (GRCm39) |
F155Y |
probably benign |
Het |
| Cul9 |
TCC |
TCCCCC |
17: 46,811,779 (GRCm39) |
|
probably benign |
Het |
| Cyp2d11 |
T |
TGGGA |
15: 82,274,223 (GRCm39) |
|
probably null |
Homo |
| Dbr1 |
AGG |
AGGAGGCGG |
9: 99,465,754 (GRCm39) |
|
probably benign |
Het |
| Dennd10 |
CT |
CTTTT |
19: 60,803,059 (GRCm39) |
|
probably benign |
Homo |
| Dennd2b |
CACCACACTGGGGCAGCCCACACTGGGGCAG |
CCCCACACTGGGGCAG |
7: 109,156,128 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,571,342 (GRCm39) |
G2817V |
probably damaging |
Homo |
| Dnah8 |
ACACTGCC |
AC |
17: 30,854,437 (GRCm39) |
|
probably benign |
Het |
| Dthd1 |
C |
CTTA |
5: 63,000,369 (GRCm39) |
|
probably benign |
Homo |
| Frem3 |
CT |
CTTTT |
8: 81,341,870 (GRCm39) |
|
probably benign |
Homo |
| Frmpd2 |
G |
T |
14: 33,232,978 (GRCm39) |
L399F |
probably damaging |
Homo |
| G530012D18Rik |
CACACAGAGAGAGAGAGAGAGAGAGA |
CA |
1: 85,504,873 (GRCm39) |
|
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,309,413 (GRCm39) |
I175V |
probably benign |
Het |
| Gm14393 |
T |
C |
2: 174,903,427 (GRCm39) |
E160G |
possibly damaging |
Het |
| Gm16519 |
A |
AGAAC |
17: 71,236,333 (GRCm39) |
|
probably null |
Homo |
| Gm4340 |
GCAG |
GCAACAG |
10: 104,031,959 (GRCm39) |
|
probably benign |
Het |
| Gm4340 |
CAGAAG |
CAGAAGAAG |
10: 104,031,960 (GRCm39) |
|
probably benign |
Het |
| Gm4340 |
CAG |
CAGTAG |
10: 104,031,936 (GRCm39) |
|
probably null |
Het |
| Gpatch11 |
AGGAAG |
AGGAAGGGGAAG |
17: 79,149,603 (GRCm39) |
|
probably benign |
Het |
| H2-Q4 |
G |
A |
17: 35,599,381 (GRCm39) |
D155N |
probably damaging |
Het |
| Ifi208 |
ATGGTG |
ATG |
1: 173,505,264 (GRCm39) |
|
probably benign |
Homo |
| Ighv5-9 |
C |
T |
12: 113,625,497 (GRCm39) |
S82N |
probably benign |
Homo |
| Ipo9 |
CTC |
CTCTTC |
1: 135,314,009 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
TCC |
TCCCCC |
1: 135,314,007 (GRCm39) |
|
probably benign |
Het |
| Isg20l2 |
AAG |
AAGTAG |
3: 87,839,019 (GRCm39) |
|
probably null |
Het |
| Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,285,800 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,285,788 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,285,794 (GRCm39) |
|
probably benign |
Het |
| Krt10 |
CCTCCT |
CCTCCTTCTCCT |
11: 99,280,100 (GRCm39) |
|
probably benign |
Het |
| Krt10 |
CAC |
CACGAC |
11: 99,277,028 (GRCm39) |
|
probably benign |
Het |
| Krt10 |
ACCG |
ACCGCCG |
11: 99,277,029 (GRCm39) |
|
probably benign |
Homo |
| Las1l |
TCCTC |
TCCTCTACCTC |
X: 94,984,228 (GRCm39) |
|
probably benign |
Het |
| Lce1a1 |
C |
T |
3: 92,554,151 (GRCm39) |
G108S |
unknown |
Het |
| Lkaaear1 |
CCAGCTCCAG |
CCAGCTCCAGCTGCAGCTCCAG |
2: 181,339,387 (GRCm39) |
|
probably benign |
Het |
| Lrit3 |
CTG |
CTGTTG |
3: 129,582,457 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CAG |
CAGAAG |
X: 70,162,452 (GRCm39) |
|
probably benign |
Het |
| Mapk7 |
TGCTGGCGCTGGTGCTGGCGCTGG |
TGCTGGCGCTGGCGCTGGTGCTGGCGCTGG |
11: 61,381,032 (GRCm39) |
|
probably benign |
Het |
| Mast4 |
GCA |
GCAGTGTCA |
13: 102,872,825 (GRCm39) |
|
probably benign |
Homo |
| Mast4 |
TTTT |
TTTTATTT |
13: 102,871,365 (GRCm39) |
|
probably null |
Het |
| Med12l |
AGC |
AGCCGC |
3: 59,183,406 (GRCm39) |
|
probably benign |
Het |
| Mfsd5 |
G |
A |
15: 102,189,596 (GRCm39) |
V323I |
probably benign |
Het |
| Nacad |
GTC |
GTCAGGATC |
11: 6,549,761 (GRCm39) |
|
probably benign |
Het |
| Naip1 |
A |
C |
13: 100,559,584 (GRCm39) |
M1140R |
probably benign |
Het |
| Nbea |
TTTA |
T |
3: 55,916,633 (GRCm39) |
|
probably benign |
Homo |
| Nefh |
CTCACCTGGGGACTTGGCCTC |
CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,040 (GRCm39) |
|
probably benign |
Homo |
| Nefh |
ACTTGGCCTCACCTGGGG |
ACTTGGCCTCACCTGGGGCCTTGGCCTCACCTGGGG |
11: 4,891,033 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GCCTCACCTGGGGACTTGGCCTC |
GCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,038 (GRCm39) |
|
probably benign |
Homo |
| Neu1 |
TCTTCTA |
T |
17: 35,151,534 (GRCm39) |
|
probably benign |
Het |
| Nutf2 |
G |
T |
8: 106,603,202 (GRCm39) |
D78Y |
probably damaging |
Het |
| Or51q1 |
TCC |
TCCC |
7: 103,629,110 (GRCm39) |
|
probably null |
Het |
| Or5e1 |
AT |
ATGATATT |
7: 108,354,161 (GRCm39) |
|
probably benign |
Homo |
| Or5p70 |
G |
A |
7: 107,995,105 (GRCm39) |
M259I |
probably benign |
Het |
| Or5p70 |
A |
G |
7: 107,995,100 (GRCm39) |
T258A |
probably benign |
Het |
| Pdik1l |
ACCAC |
ACCACCCCCAC |
4: 134,006,823 (GRCm39) |
|
probably benign |
Het |
| Phaf1 |
G |
A |
8: 105,967,730 (GRCm39) |
G207E |
probably benign |
Homo |
| Pik3c2g |
AG |
AGAGGG |
6: 139,612,654 (GRCm39) |
|
probably null |
Homo |
| Plekhs1 |
TCCAGAC |
TCCAGACCTCCCCCCAGAC |
19: 56,468,290 (GRCm39) |
|
probably benign |
Homo |
| Prag1 |
C |
CAGT |
8: 36,571,040 (GRCm39) |
|
probably benign |
Homo |
| Pramel16 |
G |
A |
4: 143,676,312 (GRCm39) |
T264M |
probably damaging |
Het |
| Prkn |
G |
A |
17: 12,073,650 (GRCm39) |
V323M |
probably damaging |
Homo |
| Raet1d |
A |
G |
10: 22,247,458 (GRCm39) |
Q178R |
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,121,083 (GRCm39) |
K70N |
probably damaging |
Homo |
| Serpina3i |
CGG |
CGGTGG |
12: 104,231,423 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
ACTCAGCCC |
ACTCAGCCCCCTCAGCCC |
5: 129,646,815 (GRCm39) |
|
probably benign |
Het |
| Six3 |
CGG |
CGGGGG |
17: 85,928,784 (GRCm39) |
|
probably benign |
Het |
| Sp140l1 |
A |
C |
1: 85,087,072 (GRCm39) |
N6K |
probably damaging |
Het |
| Speer4a1 |
C |
A |
5: 26,241,746 (GRCm39) |
E127* |
probably null |
Het |
| Sry |
GCTGCTGCTGCTG |
GCTGCTGCTGCTGCTG |
Y: 2,662,824 (GRCm39) |
|
probably benign |
Het |
| Tbr1 |
A |
C |
2: 61,636,691 (GRCm39) |
|
probably benign |
Het |
| Tdpoz2 |
T |
TCC |
3: 93,558,922 (GRCm39) |
|
probably null |
Homo |
| Tdpoz4 |
GAA |
GA |
3: 93,704,187 (GRCm39) |
|
probably null |
Het |
| Tgoln1 |
AAG |
AAGCCTCAG |
6: 72,593,334 (GRCm39) |
|
probably benign |
Homo |
| Tmbim7 |
C |
T |
5: 3,720,064 (GRCm39) |
R100C |
possibly damaging |
Het |
| Tob1 |
CA |
CAGAA |
11: 94,105,303 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
AGC |
AGCCGC |
11: 94,105,280 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
AGC |
AGCCGC |
11: 94,105,286 (GRCm39) |
|
probably benign |
Het |
| Tomm5 |
GCATCTTCC |
GCATCTTCCACATCTTCC |
4: 45,107,973 (GRCm39) |
|
probably benign |
Het |
| Triobp |
TCGG |
TCGGCGG |
15: 78,877,590 (GRCm39) |
|
probably benign |
Homo |
| Tsbp1 |
GC |
GCAAC |
17: 34,679,051 (GRCm39) |
|
probably benign |
Het |
| Tsbp1 |
CAG |
CAGTAG |
17: 34,679,034 (GRCm39) |
|
probably null |
Het |
| Tsbp1 |
GCA |
GCATCA |
17: 34,679,042 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
AGG |
AGGGGG |
6: 115,537,027 (GRCm39) |
|
probably benign |
Homo |
| Tsen2 |
AGG |
AGGGGG |
6: 115,537,030 (GRCm39) |
|
probably benign |
Homo |
| Ubtf |
TCC |
TCCCCC |
11: 102,197,776 (GRCm39) |
|
probably benign |
Het |
| Vmn2r87 |
C |
T |
10: 130,314,583 (GRCm39) |
M334I |
probably benign |
Homo |
| Zc3h13 |
CGGGATGTGCG |
CGGGATGTGCGGGATGTGCG |
14: 75,561,032 (GRCm39) |
|
probably benign |
Homo |
| Zfp28 |
G |
A |
7: 6,397,862 (GRCm39) |
G766R |
probably damaging |
Het |
| Zfp384 |
AAGCCCAGGCCCAGGCCCAGGCCCA |
AAGCCCAGGCCCAAGCCCAGGCCCAGGCCCAGGCCCA |
6: 125,013,426 (GRCm39) |
|
probably benign |
Het |
| Zfp428 |
G |
A |
7: 24,214,506 (GRCm39) |
D41N |
probably damaging |
Homo |
| Zfp598 |
CCACAGGC |
CC |
17: 24,898,346 (GRCm39) |
|
probably benign |
Het |
| Zfp598 |
CCACCA |
CCACCAACACCA |
17: 24,899,757 (GRCm39) |
|
probably benign |
Het |
| Zfp831 |
TCC |
TCCCCC |
2: 174,487,273 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
GCTT |
GCTTTTCTT |
4: 147,910,186 (GRCm39) |
|
probably null |
Homo |
| Zfp936 |
G |
A |
7: 42,838,913 (GRCm39) |
G127R |
possibly damaging |
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 |
80,162,655 (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 |
|
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 |
80,162,667 (GRCm39) |
small insertion |
probably benign |
|
|
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 |
|
|
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 |
80,162,651 (GRCm39) |
small insertion |
probably benign |
|
|
RF001:Blm
|
UTSW |
7 |
80,162,654 (GRCm39) |
small insertion |
probably benign |
|
|
RF002:Blm
|
UTSW |
7 |
80,162,653 (GRCm39) |
small insertion |
probably benign |
|
|
RF002:Blm
|
UTSW |
7 |
80,162,675 (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'- ATGCGTTTGCTTCACTGGC -3'
Sequencing Primer
(F):5'- CCCAGTGCTCAGCTTTAGATTAG -3'
(R):5'- GCTTCACTGGCTAAAAATCCTG -3'
|
| Posted On |
2018-04-05 |
Incidental Mutation