Incidental Mutation 'R2148:Sorbs1'
| ID |
234053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sorbs1
|
| Ensembl Gene |
ENSMUSG00000025006 |
| Gene Name |
sorbin and SH3 domain containing 1 |
| Synonyms |
c-Cbl-associated protein, Ponsin, CAP, 2310065E01Rik, 9530001P15Rik, Sh3d5 |
| MMRRC Submission |
040151-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.815)
|
| Stock # |
R2148 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
40283197-40502223 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40365268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 172
(F172I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099466]
[ENSMUST00000099467]
[ENSMUST00000165212]
[ENSMUST00000165469]
[ENSMUST00000224233]
[ENSMUST00000225153]
[ENSMUST00000226047]
[ENSMUST00000224667]
[ENSMUST00000225148]
[ENSMUST00000224247]
[ENSMUST00000225786]
[ENSMUST00000224583]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099466
|
| SMART Domains |
Protein: ENSMUSP00000097065
Gene: ENSMUSG00000025006
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
63 |
N/A |
INTRINSIC |
|
Sorb
|
203 |
249 |
1.07e-26 |
SMART |
|
SH3
|
502 |
557 |
2.72e-18 |
SMART |
|
SH3
|
576 |
633 |
9.32e-17 |
SMART |
|
low complexity region
|
647 |
660 |
N/A |
INTRINSIC |
|
SH3
|
682 |
739 |
3.7e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099467
AA Change: F172I
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097066
Gene: ENSMUSG00000025006
AA Change: F172I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
213 |
N/A |
INTRINSIC |
|
Sorb
|
327 |
373 |
1.24e-22 |
SMART |
|
coiled coil region
|
558 |
584 |
N/A |
INTRINSIC |
|
SH3
|
700 |
755 |
2.72e-18 |
SMART |
|
SH3
|
774 |
831 |
9.32e-17 |
SMART |
|
low complexity region
|
845 |
858 |
N/A |
INTRINSIC |
|
SH3
|
880 |
937 |
3.7e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165212
|
| SMART Domains |
Protein: ENSMUSP00000126460
Gene: ENSMUSG00000025006
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
63 |
N/A |
INTRINSIC |
|
Sorb
|
193 |
239 |
1.07e-26 |
SMART |
|
SH3
|
486 |
541 |
2.72e-18 |
SMART |
|
SH3
|
560 |
617 |
9.32e-17 |
SMART |
|
low complexity region
|
631 |
644 |
N/A |
INTRINSIC |
|
SH3
|
666 |
723 |
3.7e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165469
|
| SMART Domains |
Protein: ENSMUSP00000125768
Gene: ENSMUSG00000025006
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
93 |
N/A |
INTRINSIC |
|
Sorb
|
233 |
279 |
1.07e-26 |
SMART |
|
SH3
|
476 |
531 |
2.72e-18 |
SMART |
|
SH3
|
550 |
607 |
9.32e-17 |
SMART |
|
low complexity region
|
621 |
634 |
N/A |
INTRINSIC |
|
SH3
|
656 |
713 |
3.7e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224227
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224233
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225153
AA Change: F172I
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226047
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224667
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225148
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225879
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224247
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225766
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225786
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224583
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225593
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased triglyceride levels, altered glucose homeostasis, decreased white blood cells and resistance to developing glucose intolerance induced by a high fat diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
A |
1: 71,302,647 (GRCm39) |
V2191L |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,565,764 (GRCm39) |
Y4796C |
probably damaging |
Het |
| Actn2 |
A |
T |
13: 12,315,835 (GRCm39) |
M228K |
probably damaging |
Het |
| Agbl1 |
T |
G |
7: 76,064,465 (GRCm39) |
|
probably null |
Het |
| Ahi1 |
T |
G |
10: 20,846,875 (GRCm39) |
V435G |
possibly damaging |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
| Arhgap6 |
A |
G |
X: 167,579,496 (GRCm39) |
T94A |
probably benign |
Het |
| Atg4c |
C |
A |
4: 99,109,463 (GRCm39) |
N143K |
possibly damaging |
Het |
| Bcor |
G |
A |
X: 11,923,862 (GRCm39) |
A578V |
possibly damaging |
Het |
| Bop1 |
A |
G |
15: 76,339,487 (GRCm39) |
V286A |
probably damaging |
Het |
| C1qtnf12 |
A |
G |
4: 156,050,922 (GRCm39) |
N297S |
probably benign |
Het |
| Cacna1a |
A |
T |
8: 85,356,304 (GRCm39) |
Q1887L |
possibly damaging |
Het |
| Cadps2 |
G |
T |
6: 23,838,998 (GRCm39) |
|
probably benign |
Het |
| Chl1 |
T |
C |
6: 103,692,362 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
A |
G |
10: 116,342,185 (GRCm39) |
I173T |
probably benign |
Het |
| Cntnap5b |
T |
A |
1: 100,311,199 (GRCm39) |
I564N |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cyp2j11 |
G |
A |
4: 96,204,595 (GRCm39) |
T317I |
probably damaging |
Het |
| Dcaf8l |
T |
C |
X: 88,449,883 (GRCm39) |
D82G |
possibly damaging |
Het |
| Dennd3 |
A |
T |
15: 73,426,909 (GRCm39) |
H762L |
probably benign |
Het |
| Dgkd |
T |
G |
1: 87,809,643 (GRCm39) |
N110K |
probably damaging |
Het |
| Dhx8 |
A |
T |
11: 101,629,203 (GRCm39) |
R198* |
probably null |
Het |
| Dnah8 |
A |
T |
17: 30,956,232 (GRCm39) |
I2071F |
probably damaging |
Het |
| Dsc3 |
C |
T |
18: 20,098,695 (GRCm39) |
R828Q |
probably damaging |
Het |
| Fbxl4 |
T |
C |
4: 22,427,333 (GRCm39) |
F525L |
possibly damaging |
Het |
| Glb1 |
T |
C |
9: 114,279,716 (GRCm39) |
Y375H |
probably damaging |
Het |
| Gpatch1 |
A |
G |
7: 34,998,701 (GRCm39) |
V343A |
probably benign |
Het |
| Gpr139 |
A |
G |
7: 118,744,192 (GRCm39) |
V131A |
probably benign |
Het |
| Hamp |
T |
C |
7: 30,642,137 (GRCm39) |
T34A |
possibly damaging |
Het |
| Homer2 |
T |
G |
7: 81,274,043 (GRCm39) |
D51A |
possibly damaging |
Het |
| Hspa1l |
C |
T |
17: 35,196,366 (GRCm39) |
A135V |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,243,998 (GRCm39) |
M112T |
possibly damaging |
Het |
| Ikbkb |
A |
T |
8: 23,172,761 (GRCm39) |
L153Q |
probably damaging |
Het |
| Kif19a |
A |
T |
11: 114,671,594 (GRCm39) |
I158F |
probably damaging |
Het |
| L1cam |
A |
T |
X: 72,904,747 (GRCm39) |
F536Y |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 193,010,212 (GRCm39) |
V275A |
probably benign |
Het |
| Lhx1 |
A |
T |
11: 84,410,647 (GRCm39) |
S226T |
probably benign |
Het |
| Llcfc1 |
G |
A |
6: 41,662,155 (GRCm39) |
G53D |
possibly damaging |
Het |
| Loxl4 |
A |
G |
19: 42,592,631 (GRCm39) |
|
probably null |
Het |
| Magee1 |
A |
T |
X: 104,166,564 (GRCm39) |
D783V |
probably damaging |
Het |
| Mak |
T |
C |
13: 41,195,513 (GRCm39) |
K400R |
probably benign |
Het |
| Mgat4c |
T |
C |
10: 102,224,790 (GRCm39) |
F335L |
probably benign |
Het |
| Mgat4f |
T |
A |
1: 134,318,251 (GRCm39) |
M341K |
probably damaging |
Het |
| Mospd2 |
A |
G |
X: 163,739,473 (GRCm39) |
|
probably null |
Het |
| Mtor |
T |
C |
4: 148,540,469 (GRCm39) |
F245L |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,393,358 (GRCm39) |
H3068Y |
probably damaging |
Het |
| Myo5a |
T |
A |
9: 75,087,429 (GRCm39) |
L1095H |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,013,733 (GRCm39) |
K506* |
probably null |
Het |
| Or5d18 |
C |
A |
2: 87,864,943 (GRCm39) |
C180F |
probably damaging |
Het |
| Parvb |
A |
G |
15: 84,116,369 (GRCm39) |
K33E |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 86,744,115 (GRCm39) |
D588G |
probably damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,783,064 (GRCm39) |
I752N |
probably damaging |
Het |
| Pkhd1 |
C |
A |
1: 20,484,444 (GRCm39) |
|
probably null |
Het |
| Plod3 |
C |
T |
5: 137,016,627 (GRCm39) |
R30* |
probably null |
Het |
| Ppfia4 |
T |
C |
1: 134,240,372 (GRCm39) |
I591V |
probably benign |
Het |
| Prickle2 |
A |
G |
6: 92,402,652 (GRCm39) |
L112P |
probably damaging |
Het |
| Ptgs2 |
G |
T |
1: 149,981,465 (GRCm39) |
A583S |
probably benign |
Het |
| Pycr2 |
T |
C |
1: 180,734,413 (GRCm39) |
V231A |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,273,807 (GRCm39) |
D540G |
probably benign |
Het |
| Rasal1 |
T |
A |
5: 120,800,096 (GRCm39) |
I150N |
probably damaging |
Het |
| Rimkla |
T |
A |
4: 119,331,779 (GRCm39) |
M140L |
possibly damaging |
Het |
| Sacs |
T |
C |
14: 61,410,827 (GRCm39) |
L34P |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,534,926 (GRCm39) |
Y106C |
probably damaging |
Het |
| Serpinb8 |
T |
A |
1: 107,533,657 (GRCm39) |
D237E |
probably benign |
Het |
| Slc19a2 |
T |
C |
1: 164,089,657 (GRCm39) |
W158R |
probably damaging |
Het |
| Spaca7 |
A |
T |
8: 12,636,447 (GRCm39) |
D91V |
probably damaging |
Het |
| Tead3 |
A |
G |
17: 28,552,638 (GRCm39) |
F187L |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
C |
A |
1: 36,851,690 (GRCm39) |
V938L |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,540,026 (GRCm39) |
W351R |
probably damaging |
Het |
| Tmem178b |
A |
T |
6: 40,184,435 (GRCm39) |
Q111L |
probably damaging |
Het |
| Trap1 |
T |
C |
16: 3,878,624 (GRCm39) |
D236G |
probably damaging |
Het |
| Trim45 |
T |
A |
3: 100,839,360 (GRCm39) |
L754* |
probably null |
Het |
| Tubgcp5 |
A |
G |
7: 55,449,259 (GRCm39) |
E152G |
probably damaging |
Het |
| Uaca |
A |
T |
9: 60,776,961 (GRCm39) |
L447F |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,118,164 (GRCm39) |
V777A |
probably benign |
Het |
| Wdr11 |
A |
G |
7: 129,230,807 (GRCm39) |
|
probably null |
Het |
| Zfp462 |
T |
A |
4: 55,013,670 (GRCm39) |
S1879T |
probably benign |
Het |
| Zfr2 |
T |
G |
10: 81,077,950 (GRCm39) |
V259G |
probably benign |
Het |
|
| Other mutations in Sorbs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Sorbs1
|
APN |
19 |
40,306,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00776:Sorbs1
|
APN |
19 |
40,332,795 (GRCm39) |
splice site |
probably null |
|
|
IGL00788:Sorbs1
|
APN |
19 |
40,325,487 (GRCm39) |
splice site |
probably benign |
|
|
IGL00943:Sorbs1
|
APN |
19 |
40,283,484 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01525:Sorbs1
|
APN |
19 |
40,338,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01530:Sorbs1
|
APN |
19 |
40,365,091 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01951:Sorbs1
|
APN |
19 |
40,306,460 (GRCm39) |
splice site |
probably benign |
|
|
IGL02159:Sorbs1
|
APN |
19 |
40,316,040 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02252:Sorbs1
|
APN |
19 |
40,302,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02613:Sorbs1
|
APN |
19 |
40,315,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02643:Sorbs1
|
APN |
19 |
40,353,577 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02668:Sorbs1
|
APN |
19 |
40,303,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02738:Sorbs1
|
APN |
19 |
40,365,348 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02965:Sorbs1
|
APN |
19 |
40,365,187 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03083:Sorbs1
|
APN |
19 |
40,302,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03173:Sorbs1
|
APN |
19 |
40,351,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03286:Sorbs1
|
APN |
19 |
40,332,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03292:Sorbs1
|
APN |
19 |
40,362,009 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0016:Sorbs1
|
UTSW |
19 |
40,303,182 (GRCm39) |
splice site |
probably benign |
|
|
R0016:Sorbs1
|
UTSW |
19 |
40,303,182 (GRCm39) |
splice site |
probably benign |
|
|
R0306:Sorbs1
|
UTSW |
19 |
40,332,855 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0526:Sorbs1
|
UTSW |
19 |
40,338,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0551:Sorbs1
|
UTSW |
19 |
40,300,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0688:Sorbs1
|
UTSW |
19 |
40,351,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1185:Sorbs1
|
UTSW |
19 |
40,371,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1185:Sorbs1
|
UTSW |
19 |
40,371,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1185:Sorbs1
|
UTSW |
19 |
40,371,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1891:Sorbs1
|
UTSW |
19 |
40,381,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2066:Sorbs1
|
UTSW |
19 |
40,353,472 (GRCm39) |
splice site |
probably null |
|
|
R2214:Sorbs1
|
UTSW |
19 |
40,285,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2410:Sorbs1
|
UTSW |
19 |
40,361,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2940:Sorbs1
|
UTSW |
19 |
40,362,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3847:Sorbs1
|
UTSW |
19 |
40,302,887 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4405:Sorbs1
|
UTSW |
19 |
40,384,189 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4544:Sorbs1
|
UTSW |
19 |
40,300,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4618:Sorbs1
|
UTSW |
19 |
40,361,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4731:Sorbs1
|
UTSW |
19 |
40,303,133 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4732:Sorbs1
|
UTSW |
19 |
40,303,133 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4733:Sorbs1
|
UTSW |
19 |
40,303,133 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4860:Sorbs1
|
UTSW |
19 |
40,325,449 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4860:Sorbs1
|
UTSW |
19 |
40,325,449 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4907:Sorbs1
|
UTSW |
19 |
40,328,491 (GRCm39) |
nonsense |
probably null |
|
|
R4912:Sorbs1
|
UTSW |
19 |
40,300,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5229:Sorbs1
|
UTSW |
19 |
40,329,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5285:Sorbs1
|
UTSW |
19 |
40,310,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:Sorbs1
|
UTSW |
19 |
40,365,433 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5706:Sorbs1
|
UTSW |
19 |
40,365,325 (GRCm39) |
missense |
probably benign |
|
|
R5871:Sorbs1
|
UTSW |
19 |
40,387,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5936:Sorbs1
|
UTSW |
19 |
40,313,216 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6073:Sorbs1
|
UTSW |
19 |
40,303,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6324:Sorbs1
|
UTSW |
19 |
40,310,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6343:Sorbs1
|
UTSW |
19 |
40,365,426 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6561:Sorbs1
|
UTSW |
19 |
40,314,496 (GRCm39) |
missense |
probably benign |
|
|
R6646:Sorbs1
|
UTSW |
19 |
40,313,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6768:Sorbs1
|
UTSW |
19 |
40,315,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6849:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R6850:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R6878:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R6879:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R6880:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R6908:Sorbs1
|
UTSW |
19 |
40,340,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Sorbs1
|
UTSW |
19 |
40,316,060 (GRCm39) |
nonsense |
probably null |
|
|
R7040:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R7041:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R7110:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R7122:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R7170:Sorbs1
|
UTSW |
19 |
40,314,573 (GRCm39) |
nonsense |
probably null |
|
|
R7180:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R7185:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R7187:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R7254:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R7255:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R7401:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R7595:Sorbs1
|
UTSW |
19 |
40,303,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7819:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R7876:Sorbs1
|
UTSW |
19 |
40,285,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7894:Sorbs1
|
UTSW |
19 |
40,316,020 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7986:Sorbs1
|
UTSW |
19 |
40,353,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8031:Sorbs1
|
UTSW |
19 |
40,314,933 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8082:Sorbs1
|
UTSW |
19 |
40,353,527 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8282:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R8283:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R8446:Sorbs1
|
UTSW |
19 |
40,314,602 (GRCm39) |
missense |
probably benign |
|
|
R8526:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R8527:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R8528:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R8539:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R8540:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R8542:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R8543:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R8544:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R8545:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R8684:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R8699:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R8702:Sorbs1
|
UTSW |
19 |
40,365,244 (GRCm39) |
missense |
probably benign |
|
|
R8752:Sorbs1
|
UTSW |
19 |
40,349,872 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8937:Sorbs1
|
UTSW |
19 |
40,362,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8956:Sorbs1
|
UTSW |
19 |
40,351,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8960:Sorbs1
|
UTSW |
19 |
40,387,048 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9175:Sorbs1
|
UTSW |
19 |
40,315,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9208:Sorbs1
|
UTSW |
19 |
40,353,462 (GRCm39) |
start gained |
probably benign |
|
|
R9211:Sorbs1
|
UTSW |
19 |
40,332,798 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9371:Sorbs1
|
UTSW |
19 |
40,315,324 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9374:Sorbs1
|
UTSW |
19 |
40,361,923 (GRCm39) |
nonsense |
probably null |
|
|
R9377:Sorbs1
|
UTSW |
19 |
40,387,048 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9551:Sorbs1
|
UTSW |
19 |
40,361,923 (GRCm39) |
nonsense |
probably null |
|
|
R9552:Sorbs1
|
UTSW |
19 |
40,361,923 (GRCm39) |
nonsense |
probably null |
|
|
R9686:Sorbs1
|
UTSW |
19 |
40,381,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Sorbs1
|
UTSW |
19 |
40,315,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCAGCAAGCTTACGGTAC -3'
(R):5'- CTTATTTCCCACAGGGTGCCAC -3'
Sequencing Primer
(F):5'- AGCTTACGGTACTTGAGACAGCTC -3'
(R):5'- ACAGGGTGCCACCTCCTC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation