Incidental Mutation 'R0194:Blm'
| ID |
216182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blm
|
| Ensembl Gene |
ENSMUSG00000030528 |
| Gene Name |
Bloom syndrome, RecQ like helicase |
| Synonyms |
|
| MMRRC Submission |
038453-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0194 (G1)
|
| Quality Score |
60 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80104741-80184896 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 80114694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205713
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205730
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206901
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206989
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 91.4%
- 20x: 70.1%
|
| Validation Efficiency |
91% (439/482) |
| 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 |
|---|
| 4930553M12Rik |
T |
A |
4: 88,786,480 (GRCm39) |
D46V |
unknown |
Het |
| Abcb9 |
A |
G |
5: 124,215,358 (GRCm39) |
V461A |
probably damaging |
Het |
| Ackr4 |
T |
A |
9: 103,976,679 (GRCm39) |
L89F |
probably benign |
Het |
| Acsf2 |
T |
C |
11: 94,452,196 (GRCm39) |
T449A |
probably benign |
Het |
| Acsl4 |
C |
G |
X: 141,116,714 (GRCm39) |
G489R |
probably damaging |
Het |
| Actl6a |
T |
A |
3: 32,779,469 (GRCm39) |
I399N |
probably damaging |
Het |
| Adamts19 |
G |
A |
18: 59,144,220 (GRCm39) |
C934Y |
probably null |
Het |
| Adsl |
A |
G |
15: 80,845,561 (GRCm39) |
E40G |
possibly damaging |
Het |
| Alppl2 |
T |
G |
1: 87,016,465 (GRCm39) |
D203A |
probably damaging |
Het |
| Asb10 |
C |
A |
5: 24,742,930 (GRCm39) |
A268S |
probably benign |
Het |
| Atp9a |
T |
C |
2: 168,485,805 (GRCm39) |
S832G |
probably benign |
Het |
| Bckdha |
A |
T |
7: 25,330,875 (GRCm39) |
I297N |
probably damaging |
Het |
| C9orf72 |
T |
A |
4: 35,197,207 (GRCm39) |
D122V |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,599,898 (GRCm39) |
|
probably benign |
Het |
| Camsap2 |
G |
A |
1: 136,220,686 (GRCm39) |
Q298* |
probably null |
Het |
| Ccdc38 |
A |
T |
10: 93,401,774 (GRCm39) |
K145* |
probably null |
Het |
| Cfap45 |
C |
T |
1: 172,368,894 (GRCm39) |
T434M |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,870,524 (GRCm39) |
|
probably benign |
Het |
| Clcn6 |
G |
A |
4: 148,097,213 (GRCm39) |
P618L |
probably damaging |
Het |
| Copg1 |
T |
C |
6: 87,881,179 (GRCm39) |
|
probably benign |
Het |
| Dctd |
T |
A |
8: 48,565,113 (GRCm39) |
N79K |
probably benign |
Het |
| Dgkq |
A |
G |
5: 108,802,510 (GRCm39) |
|
probably benign |
Het |
| Dntt |
A |
T |
19: 41,027,409 (GRCm39) |
T159S |
possibly damaging |
Het |
| Doc2g |
G |
A |
19: 4,053,656 (GRCm39) |
R29Q |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,673,199 (GRCm39) |
T957A |
probably damaging |
Het |
| Eif3c |
T |
A |
7: 126,157,795 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
T |
A |
16: 21,036,859 (GRCm39) |
D107E |
probably benign |
Het |
| Esrrb |
A |
T |
12: 86,517,255 (GRCm39) |
D108V |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,719,596 (GRCm39) |
K214E |
probably damaging |
Het |
| Fam186a |
G |
A |
15: 99,839,644 (GRCm39) |
T2200I |
possibly damaging |
Het |
| Fam227a |
C |
T |
15: 79,524,870 (GRCm39) |
W194* |
probably null |
Het |
| Foxn4 |
A |
G |
5: 114,397,809 (GRCm39) |
|
probably null |
Het |
| Gabbr2 |
T |
C |
4: 46,787,565 (GRCm39) |
K366R |
possibly damaging |
Het |
| Garem2 |
T |
A |
5: 30,318,928 (GRCm39) |
V130E |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,756,303 (GRCm39) |
F474S |
probably damaging |
Het |
| H2-M10.6 |
G |
T |
17: 37,124,934 (GRCm39) |
V284F |
probably damaging |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Hivep1 |
G |
T |
13: 42,308,911 (GRCm39) |
V384F |
probably damaging |
Het |
| Hmox1 |
A |
G |
8: 75,823,736 (GRCm39) |
T135A |
probably damaging |
Het |
| Hpse |
T |
C |
5: 100,867,378 (GRCm39) |
D28G |
probably benign |
Het |
| Itm2b |
G |
T |
14: 73,602,058 (GRCm39) |
D213E |
probably benign |
Het |
| Jakmip1 |
T |
A |
5: 37,291,627 (GRCm39) |
M692K |
possibly damaging |
Het |
| Kdm3a |
T |
C |
6: 71,601,578 (GRCm39) |
Q151R |
probably null |
Het |
| Limch1 |
C |
A |
5: 67,156,616 (GRCm39) |
A517E |
probably benign |
Het |
| Lrit1 |
T |
A |
14: 36,783,677 (GRCm39) |
L335Q |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,390,616 (GRCm39) |
V1603A |
possibly damaging |
Het |
| Mbtps1 |
T |
A |
8: 120,262,108 (GRCm39) |
N347I |
probably damaging |
Het |
| Mier1 |
A |
T |
4: 102,996,716 (GRCm39) |
|
probably null |
Het |
| Mt2 |
A |
T |
8: 94,899,476 (GRCm39) |
M1L |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,817,066 (GRCm39) |
E45V |
probably damaging |
Het |
| Mybphl |
A |
G |
3: 108,281,484 (GRCm39) |
K67E |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,143,162 (GRCm39) |
K1030R |
probably damaging |
Het |
| Myl3 |
T |
A |
9: 110,598,189 (GRCm39) |
D176E |
probably benign |
Het |
| Ncapg2 |
A |
G |
12: 116,384,303 (GRCm39) |
|
probably null |
Het |
| Ndor1 |
T |
C |
2: 25,138,718 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
T |
G |
9: 72,577,335 (GRCm39) |
N53K |
possibly damaging |
Het |
| Nek11 |
C |
A |
9: 105,270,151 (GRCm39) |
A24S |
probably benign |
Het |
| Nudt19 |
G |
T |
7: 35,250,939 (GRCm39) |
P267T |
probably benign |
Het |
| Olfml2b |
T |
C |
1: 170,508,684 (GRCm39) |
M514T |
possibly damaging |
Het |
| Or14a258 |
A |
T |
7: 86,035,582 (GRCm39) |
C95* |
probably null |
Het |
| Or2ag17 |
C |
A |
7: 106,390,030 (GRCm39) |
M59I |
probably benign |
Het |
| Or52i2 |
A |
G |
7: 102,319,406 (GRCm39) |
D93G |
probably benign |
Het |
| Or6k4 |
A |
T |
1: 173,964,327 (GRCm39) |
T6S |
probably benign |
Het |
| P3h1 |
T |
A |
4: 119,095,149 (GRCm39) |
F302Y |
probably damaging |
Het |
| Pappa2 |
T |
A |
1: 158,592,671 (GRCm39) |
|
probably benign |
Het |
| Pex2 |
A |
C |
3: 5,626,424 (GRCm39) |
H128Q |
probably benign |
Het |
| Phf11d |
A |
C |
14: 59,590,180 (GRCm39) |
L214R |
probably damaging |
Het |
| Plcg2 |
G |
A |
8: 118,300,136 (GRCm39) |
|
probably benign |
Het |
| Ppargc1b |
A |
C |
18: 61,441,016 (GRCm39) |
L634R |
possibly damaging |
Het |
| Prune1 |
A |
T |
3: 95,169,671 (GRCm39) |
I177N |
probably damaging |
Het |
| Puf60 |
T |
C |
15: 75,942,334 (GRCm39) |
D496G |
probably damaging |
Het |
| Rasl11b |
A |
G |
5: 74,356,824 (GRCm39) |
|
probably null |
Het |
| Sdr42e1 |
A |
T |
8: 118,389,848 (GRCm39) |
F264L |
probably damaging |
Het |
| Sec24b |
A |
T |
3: 129,777,814 (GRCm39) |
|
probably null |
Het |
| Sgta |
G |
T |
10: 80,886,893 (GRCm39) |
P79T |
probably benign |
Het |
| Shisa9 |
C |
T |
16: 11,802,818 (GRCm39) |
T125M |
probably damaging |
Het |
| Shoc1 |
T |
A |
4: 59,066,534 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
A |
G |
18: 58,063,283 (GRCm39) |
D921G |
probably damaging |
Het |
| Slc13a5 |
C |
T |
11: 72,136,059 (GRCm39) |
V494I |
probably benign |
Het |
| Slc13a5 |
T |
A |
11: 72,152,956 (GRCm39) |
I42L |
possibly damaging |
Het |
| Spire2 |
G |
A |
8: 124,089,750 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
G |
A |
7: 27,104,336 (GRCm39) |
R962C |
probably benign |
Het |
| St8sia5 |
G |
A |
18: 77,342,420 (GRCm39) |
V377I |
probably benign |
Het |
| Stag2 |
T |
G |
X: 41,295,014 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
C |
A |
10: 5,374,311 (GRCm39) |
M165I |
probably benign |
Het |
| Synm |
C |
A |
7: 67,384,672 (GRCm39) |
V997L |
probably damaging |
Het |
| Tacc1 |
A |
G |
8: 25,672,392 (GRCm39) |
S279P |
probably benign |
Het |
| Tbc1d10a |
T |
C |
11: 4,162,901 (GRCm39) |
|
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 54,017,498 (GRCm39) |
T302A |
probably damaging |
Het |
| Tecpr1 |
A |
C |
5: 144,155,335 (GRCm39) |
N74K |
probably damaging |
Het |
| Tmem120a |
T |
C |
5: 135,771,252 (GRCm39) |
E28G |
possibly damaging |
Het |
| Tnfrsf1b |
A |
T |
4: 144,951,382 (GRCm39) |
I186N |
probably benign |
Het |
| Trim55 |
A |
G |
3: 19,716,025 (GRCm39) |
D195G |
probably benign |
Het |
| Trpm3 |
G |
T |
19: 22,692,720 (GRCm39) |
|
probably null |
Het |
| Ttc39a |
T |
A |
4: 109,301,376 (GRCm39) |
S571T |
probably benign |
Het |
| Vwf |
T |
G |
6: 125,620,260 (GRCm39) |
I1646S |
probably benign |
Het |
| Wbp2nl |
T |
C |
15: 82,198,483 (GRCm39) |
F340S |
possibly damaging |
Het |
| Yeats2 |
T |
C |
16: 19,971,719 (GRCm39) |
M1T |
probably null |
Het |
| Zfp236 |
T |
A |
18: 82,675,112 (GRCm39) |
E460V |
probably damaging |
Het |
| Zfp277 |
G |
A |
12: 40,428,876 (GRCm39) |
|
probably benign |
Het |
| Zfp975 |
T |
A |
7: 42,311,916 (GRCm39) |
K232N |
probably benign |
Het |
| Zxdc |
T |
C |
6: 90,349,519 (GRCm39) |
|
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 |
|
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 |
80,162,655 (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'- ACTGTGGGCTTTTGTTCCTAGCATC -3'
(R):5'- TGTGGACTTCTACCCCAGCACTAAG -3'
Sequencing Primer
(F):5'- TCCTAGCATCACATAGGCAATTGG -3'
(R):5'- GACCACAGAGCCTTGGAG -3'
|
| Posted On |
2014-07-28 |
Incidental Mutation