Incidental Mutation 'RF007:Blm'
| ID |
602897 |
| 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 # |
RF007 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80454733-80535119 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to CTCCTCCTCCTAG
at 80512933 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 null
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 |
probably null
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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.2%
|
| Validation Efficiency |
97% (73/75) |
| 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: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500015O10Rik |
TTCTGTA |
T |
1: 43,737,192 (GRCm38) |
|
probably benign |
Het |
| Adgrl1 |
T |
A |
8: 83,934,772 (GRCm38) |
S933T |
probably benign |
Het |
| Adgrl2 |
G |
A |
3: 148,839,248 (GRCm38) |
T737I |
probably damaging |
Het |
| Adra2c |
T |
A |
5: 35,281,042 (GRCm38) |
V386E |
probably damaging |
Het |
| Agbl5 |
C |
A |
5: 30,903,245 (GRCm38) |
T761N |
unknown |
Het |
| Ahnak |
T |
A |
19: 9,013,601 (GRCm38) |
M4083K |
possibly damaging |
Het |
| Aldh1l1 |
A |
T |
6: 90,598,259 (GRCm38) |
I843F |
probably damaging |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCTGCGGC |
18: 36,560,909 (GRCm38) |
|
probably benign |
Het |
| Arid1b |
GCG |
GCGCCG |
17: 4,995,594 (GRCm38) |
|
probably benign |
Het |
| B4galnt4 |
T |
C |
7: 141,070,696 (GRCm38) |
|
probably null |
Het |
| Btg3 |
A |
G |
16: 78,332,948 (GRCm38) |
*52W |
probably null |
Het |
| Cc2d1a |
T |
C |
8: 84,134,669 (GRCm38) |
T796A |
probably damaging |
Het |
| Cd200r1 |
T |
C |
16: 44,790,011 (GRCm38) |
S161P |
possibly damaging |
Het |
| Cenpj |
A |
G |
14: 56,530,048 (GRCm38) |
|
probably null |
Het |
| Chd9 |
A |
G |
8: 91,033,950 (GRCm38) |
T2108A |
possibly damaging |
Het |
| Cherp |
TGGAGCG |
T |
8: 72,462,059 (GRCm38) |
|
probably benign |
Het |
| Cnot11 |
T |
C |
1: 39,542,494 (GRCm38) |
V372A |
probably damaging |
Het |
| Cntnap5b |
T |
C |
1: 100,164,070 (GRCm38) |
C179R |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,170,500 (GRCm38) |
N1901K |
probably benign |
Het |
| Coil |
CTGG |
C |
11: 88,981,830 (GRCm38) |
|
probably benign |
Het |
| Col1a1 |
A |
G |
11: 94,943,040 (GRCm38) |
D488G |
probably damaging |
Het |
| Coro1a |
T |
C |
7: 126,701,852 (GRCm38) |
H130R |
probably damaging |
Het |
| Crybg3 |
A |
C |
16: 59,556,704 (GRCm38) |
S1396A |
possibly damaging |
Het |
| Csf2rb2 |
A |
G |
15: 78,291,926 (GRCm38) |
I259T |
probably benign |
Het |
| Cyp1a2 |
G |
T |
9: 57,681,970 (GRCm38) |
P187Q |
probably damaging |
Het |
| Cyp3a13 |
CATTATT |
CATT |
5: 137,894,263 (GRCm38) |
|
probably null |
Het |
| Dcun1d3 |
T |
C |
7: 119,859,503 (GRCm38) |
E103G |
possibly damaging |
Het |
| Dmkn |
T |
A |
7: 30,769,704 (GRCm38) |
|
probably null |
Het |
| Dna2 |
T |
C |
10: 62,966,695 (GRCm38) |
L864P |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,685,809 (GRCm38) |
M1909K |
probably benign |
Het |
| Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,178,361 (GRCm38) |
|
probably benign |
Het |
| Efna5 |
T |
C |
17: 62,613,394 (GRCm38) |
S163G |
probably benign |
Het |
| Entpd2 |
CTT |
CTTT |
2: 25,400,895 (GRCm38) |
|
probably null |
Het |
| Ercc4 |
C |
T |
16: 13,123,507 (GRCm38) |
S253L |
possibly damaging |
Het |
| Flywch1 |
CCTGGTGT |
CCTGGTGTGGGGAGGCTACGTACTCACCCACTTCTGGTGT |
17: 23,762,171 (GRCm38) |
|
probably null |
Het |
| Flywch1 |
ACCCA |
ACCCAATTCTGGTGTGGGGAGGCTACGTACTCTCCCA |
17: 23,762,164 (GRCm38) |
|
probably null |
Het |
| Folh1 |
T |
C |
7: 86,775,687 (GRCm38) |
T25A |
probably benign |
Het |
| Foxi3 |
C |
A |
6: 70,960,861 (GRCm38) |
T359K |
possibly damaging |
Het |
| Gab3 |
TTC |
TTCATC |
X: 75,000,025 (GRCm38) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 75,000,011 (GRCm38) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,999,996 (GRCm38) |
|
probably benign |
Het |
| Gba2 |
G |
T |
4: 43,569,894 (GRCm38) |
L440M |
probably damaging |
Het |
| Gm14412 |
T |
A |
2: 177,315,701 (GRCm38) |
N134Y |
possibly damaging |
Het |
| Gpr88 |
A |
G |
3: 116,252,369 (GRCm38) |
S98P |
probably benign |
Het |
| Il1r1 |
A |
G |
1: 40,313,278 (GRCm38) |
Y539C |
probably damaging |
Het |
| Iqcf4 |
TTTCCTTTTCCTTTT |
TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTCTTCCTTTTCCTTTT |
9: 106,570,609 (GRCm38) |
|
probably benign |
Het |
| Lce1m |
CTGCT |
CTGCTTCCACTGTTGCT |
3: 93,018,144 (GRCm38) |
|
probably benign |
Het |
| Lkaaear1 |
CAGCTCCAGCTCCAGCTCCAGCTC |
CAGCTCCAGCTCTAGCTCCAGCTCCAGCTCCAGCTC |
2: 181,697,577 (GRCm38) |
|
probably benign |
Het |
| Lkaaear1 |
T |
TATCTCCAGCTCC |
2: 181,697,559 (GRCm38) |
|
probably benign |
Het |
| Ltb4r1 |
T |
A |
14: 55,767,969 (GRCm38) |
L243Q |
possibly damaging |
Het |
| Man2a1 |
T |
A |
17: 64,712,253 (GRCm38) |
V704D |
probably damaging |
Het |
| Map1a |
CTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGTTCCAGCTCCA |
2: 121,306,308 (GRCm38) |
|
probably benign |
Het |
| Mcu |
G |
T |
10: 59,491,116 (GRCm38) |
A63E |
probably benign |
Het |
| Mrps31 |
A |
T |
8: 22,419,864 (GRCm38) |
D182V |
possibly damaging |
Het |
| Mslnl |
T |
A |
17: 25,743,228 (GRCm38) |
V200E |
possibly damaging |
Het |
| Naip1 |
A |
T |
13: 100,426,134 (GRCm38) |
M841K |
probably benign |
Het |
| Ndufab1 |
T |
C |
7: 122,096,638 (GRCm38) |
K88E |
possibly damaging |
Het |
| Nlrp5 |
A |
C |
7: 23,418,161 (GRCm38) |
I437L |
probably benign |
Het |
| Nnt |
C |
T |
13: 119,396,857 (GRCm38) |
V91M |
probably damaging |
Het |
| Nusap1 |
TACACGTTAGCAGTGAGGAGCAAGCTGAGA |
TACACGTTAGCAGTGAGGAGCAAGCTGAGAGACACGTTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,627,581 (GRCm38) |
|
probably benign |
Het |
| Nynrin |
T |
G |
14: 55,866,201 (GRCm38) |
|
probably null |
Het |
| Olfr358 |
T |
G |
2: 37,005,174 (GRCm38) |
T147P |
probably damaging |
Het |
| Olfr773 |
T |
A |
10: 129,186,693 (GRCm38) |
I243F |
probably damaging |
Het |
| Olfr992 |
C |
A |
2: 85,399,793 (GRCm38) |
A247S |
probably damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,276,467 (GRCm38) |
K481R |
possibly damaging |
Het |
| Padi6 |
T |
C |
4: 140,729,743 (GRCm38) |
D540G |
probably damaging |
Het |
| Pcmtd1 |
T |
C |
1: 7,155,105 (GRCm38) |
|
probably benign |
Het |
| Pdik1l |
TTTTTGTTTT |
TTTTTGTTTTGGTTTTGTTTT |
4: 134,279,368 (GRCm38) |
|
probably null |
Het |
| Phospho1 |
T |
C |
11: 95,831,055 (GRCm38) |
Y184H |
probably damaging |
Het |
| Pi4ka |
T |
A |
16: 17,297,233 (GRCm38) |
R1431W |
|
Het |
| Plxdc1 |
T |
A |
11: 97,978,678 (GRCm38) |
H28L |
probably benign |
Het |
| Pnmal1 |
ACCTCATGATGCACCTGCTTCAACA |
ACCTCATGATGCACCTGCTTCAACACCTCATGATGCACCTGCTTCAACA |
7: 16,961,424 (GRCm38) |
|
probably benign |
Het |
| Ppp1r7 |
T |
C |
1: 93,346,289 (GRCm38) |
|
probably null |
Het |
| Ppp1r9a |
T |
A |
6: 4,906,657 (GRCm38) |
V404E |
probably damaging |
Het |
| Scfd1 |
T |
A |
12: 51,422,973 (GRCm38) |
S434T |
probably benign |
Het |
| Six5 |
A |
G |
7: 19,094,937 (GRCm38) |
S101G |
probably benign |
Het |
| Slc6a4 |
C |
A |
11: 77,019,182 (GRCm38) |
T421K |
probably damaging |
Het |
| Smarcd3 |
C |
A |
5: 24,596,070 (GRCm38) |
R113L |
probably damaging |
Het |
| Son |
T |
A |
16: 91,659,369 (GRCm38) |
M1668K |
possibly damaging |
Het |
| Tcf25 |
A |
G |
8: 123,395,630 (GRCm38) |
D434G |
probably benign |
Het |
| Tcof1 |
CCAGAGATCCCC |
CCAGAGATCCCCGTGGCTGCCGAGATGGGCACTTTCACAGAGATCCCC |
18: 60,833,568 (GRCm38) |
|
probably benign |
Het |
| Tep1 |
A |
G |
14: 50,860,945 (GRCm38) |
V463A |
possibly damaging |
Het |
| Thegl |
CTCCCCAGTCCCGCAAGGCCAG |
CTCCCCAGTCCCGCAAGGCCAGCGATCGTCCCCAGTCCCGCAAGGCCAG |
5: 77,016,408 (GRCm38) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
GGGAG |
GGGAGGAG |
14: 53,649,750 (GRCm38) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
GGAG |
GGAGGAG |
14: 53,649,751 (GRCm38) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
AAG |
AAGCAG |
14: 53,649,755 (GRCm38) |
|
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,953,536 (GRCm38) |
K642E |
possibly damaging |
Het |
| Trim33 |
GGCCCCCGC |
GGC |
3: 103,280,217 (GRCm38) |
|
probably benign |
Het |
| Triobp |
CTCCCTGTGCCCAACGG |
CTCCCTGTGCCCAACGGAACAACCCCAGGATTCCCTGTGCCCAACGG |
15: 78,967,044 (GRCm38) |
|
probably benign |
Het |
| Trmu |
G |
T |
15: 85,892,569 (GRCm38) |
V161L |
possibly damaging |
Het |
| Try4 |
T |
A |
6: 41,305,363 (GRCm38) |
C206S |
probably damaging |
Het |
| Usp2 |
TTCACTTAC |
TTCACTTACTCATGTGACCTGTTCGTCACTTAC |
9: 44,089,121 (GRCm38) |
|
probably benign |
Het |
| Vmn1r62 |
A |
T |
7: 5,675,670 (GRCm38) |
M117L |
probably benign |
Het |
| Vmn2r104 |
A |
T |
17: 20,048,040 (GRCm38) |
Y56N |
probably benign |
Het |
| Wdr66 |
G |
GGAT |
5: 123,254,254 (GRCm38) |
|
probably benign |
Het |
| Xxylt1 |
C |
T |
16: 31,050,680 (GRCm38) |
D201N |
possibly damaging |
Het |
| Zfp563 |
T |
A |
17: 33,105,025 (GRCm38) |
I198K |
probably benign |
Het |
| Zfp612 |
T |
A |
8: 110,089,542 (GRCm38) |
C460* |
probably null |
Het |
| Zfp691 |
G |
A |
4: 119,170,735 (GRCm38) |
T100M |
probably benign |
Het |
| Zfp773 |
A |
T |
7: 7,132,690 (GRCm38) |
C302* |
probably null |
Het |
| Zmat2 |
A |
G |
18: 36,797,883 (GRCm38) |
E154G |
probably damaging |
Het |
| Zw10 |
T |
A |
9: 49,060,920 (GRCm38) |
I132N |
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 |
80,512,907 (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 |
80,512,907 (GRCm38) |
small insertion |
probably benign |
|
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,512,918 (GRCm38) |
small insertion |
probably benign |
|
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,512,919 (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 |
80,512,906 (GRCm38) |
small insertion |
probably benign |
|
|
RF001:Blm
|
UTSW |
7 |
80,512,903 (GRCm38) |
small insertion |
probably benign |
|
|
RF002:Blm
|
UTSW |
7 |
80,512,927 (GRCm38) |
small insertion |
probably benign |
|
|
RF002:Blm
|
UTSW |
7 |
80,512,905 (GRCm38) |
small insertion |
probably benign |
|
|
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'- GATGAGATGATGGCTACCTCTTTC -3'
(R):5'- TTCTGCAGACTCCCTCAGTG -3'
Sequencing Primer
(F):5'- GAGATGATGGCTACCTCTTTCAGCTC -3'
(R):5'- CCCTCAGTGACTGGGCTGATATG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation