Incidental Mutation 'R1758:Itsn2'
| ID |
195110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itsn2
|
| Ensembl Gene |
ENSMUSG00000020640 |
| Gene Name |
intersectin 2 |
| Synonyms |
Sh3d1B, Sh3p18, Ese2, Eh domain, SH3 domain regulator of endocytosis 2 |
| MMRRC Submission |
039790-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1758 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
4642792-4763952 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4708160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 795
(V795E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062580]
[ENSMUST00000219007]
[ENSMUST00000220311]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062580
AA Change: V795E
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: V795E
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
15 |
109 |
8.44e-41 |
SMART |
|
EFh
|
58 |
86 |
7.18e-3 |
SMART |
|
low complexity region
|
156 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
231 |
N/A |
INTRINSIC |
|
EH
|
238 |
333 |
4.06e-43 |
SMART |
|
EFh
|
282 |
310 |
6.16e-2 |
SMART |
|
coiled coil region
|
366 |
462 |
N/A |
INTRINSIC |
|
coiled coil region
|
516 |
556 |
N/A |
INTRINSIC |
|
coiled coil region
|
580 |
715 |
N/A |
INTRINSIC |
|
SH3
|
721 |
778 |
2.65e-21 |
SMART |
|
low complexity region
|
791 |
811 |
N/A |
INTRINSIC |
|
SH3
|
855 |
909 |
8.83e-18 |
SMART |
|
SH3
|
945 |
999 |
9.1e-20 |
SMART |
|
SH3
|
1017 |
1077 |
1.55e-13 |
SMART |
|
SH3
|
1091 |
1146 |
7.22e-23 |
SMART |
|
RhoGEF
|
1174 |
1355 |
1.93e-56 |
SMART |
|
PH
|
1396 |
1507 |
1.16e-9 |
SMART |
|
C2
|
1531 |
1628 |
3.96e-19 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000217672
AA Change: V353E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218352
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219007
AA Change: V795E
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219832
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220311
AA Change: V822E
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal brain morphology and function and behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
C |
8: 13,612,237 (GRCm39) |
R38G |
possibly damaging |
Het |
| 4930590J08Rik |
T |
C |
6: 91,892,203 (GRCm39) |
V155A |
possibly damaging |
Het |
| Adgb |
A |
G |
10: 10,302,349 (GRCm39) |
S406P |
probably damaging |
Het |
| Adgrb2 |
C |
A |
4: 129,905,668 (GRCm39) |
T893N |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,735,484 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,605,487 (GRCm39) |
I2379N |
probably damaging |
Het |
| Arap3 |
C |
T |
18: 38,122,965 (GRCm39) |
V512I |
probably benign |
Het |
| Atf4 |
C |
T |
15: 80,141,414 (GRCm39) |
T268I |
probably benign |
Het |
| Cblif |
G |
A |
19: 11,735,179 (GRCm39) |
M266I |
probably damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,382,156 (GRCm39) |
L25P |
probably damaging |
Het |
| Ccdc9 |
G |
A |
7: 16,010,161 (GRCm39) |
S381F |
probably damaging |
Het |
| Cdk17 |
C |
T |
10: 93,044,112 (GRCm39) |
T17M |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 91,314,352 (GRCm39) |
N142S |
probably benign |
Het |
| Cep78 |
A |
G |
19: 15,936,900 (GRCm39) |
I602T |
probably damaging |
Het |
| Clasp1 |
C |
T |
1: 118,475,755 (GRCm39) |
T935I |
probably damaging |
Het |
| Cnr1 |
T |
C |
4: 33,945,000 (GRCm39) |
S463P |
probably damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,075,449 (GRCm39) |
W876R |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,349,545 (GRCm39) |
D286G |
probably damaging |
Het |
| Copa |
C |
T |
1: 171,931,711 (GRCm39) |
R321C |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,505,266 (GRCm39) |
T2132A |
possibly damaging |
Het |
| Ctla2a |
T |
G |
13: 61,083,256 (GRCm39) |
E98A |
probably damaging |
Het |
| Cux1 |
A |
T |
5: 136,421,176 (GRCm39) |
D183E |
probably damaging |
Het |
| Cxcl15 |
A |
C |
5: 90,949,323 (GRCm39) |
T163P |
unknown |
Het |
| Ddias |
T |
C |
7: 92,508,571 (GRCm39) |
N448S |
probably benign |
Het |
| Dhx8 |
T |
C |
11: 101,657,564 (GRCm39) |
F1152S |
probably damaging |
Het |
| Dnah12 |
C |
A |
14: 26,488,071 (GRCm39) |
Q992K |
probably benign |
Het |
| Eno3 |
G |
T |
11: 70,552,251 (GRCm39) |
W301L |
possibly damaging |
Het |
| Faap100 |
A |
T |
11: 120,268,059 (GRCm39) |
V238E |
probably damaging |
Het |
| Fgf4 |
A |
G |
7: 144,416,049 (GRCm39) |
S137G |
probably benign |
Het |
| Fhod3 |
A |
C |
18: 25,253,367 (GRCm39) |
D1439A |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,560,778 (GRCm39) |
L1243P |
probably damaging |
Het |
| Gkn3 |
T |
G |
6: 87,365,817 (GRCm39) |
M1L |
probably benign |
Het |
| Gm10250 |
T |
C |
15: 5,150,509 (GRCm39) |
|
probably benign |
Het |
| Gm12185 |
T |
C |
11: 48,798,859 (GRCm39) |
T545A |
possibly damaging |
Het |
| Gm14226 |
T |
A |
2: 154,867,378 (GRCm39) |
L445H |
probably damaging |
Het |
| Gm3404 |
A |
T |
5: 146,463,036 (GRCm39) |
M73L |
probably benign |
Het |
| Gm973 |
G |
T |
1: 59,673,169 (GRCm39) |
R976S |
unknown |
Het |
| Gpr146 |
A |
T |
5: 139,379,137 (GRCm39) |
H313L |
probably benign |
Het |
| Gys2 |
T |
A |
6: 142,418,432 (GRCm39) |
E32D |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,236,617 (GRCm39) |
T1188I |
probably benign |
Het |
| Igsf9b |
A |
T |
9: 27,245,548 (GRCm39) |
T1172S |
possibly damaging |
Het |
| Itga8 |
T |
A |
2: 12,270,144 (GRCm39) |
N114I |
possibly damaging |
Het |
| Kdm1b |
T |
A |
13: 47,214,244 (GRCm39) |
S197T |
probably benign |
Het |
| Kif5c |
G |
A |
2: 49,613,145 (GRCm39) |
R161Q |
probably benign |
Het |
| Krt33b |
T |
C |
11: 99,916,361 (GRCm39) |
Y232C |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,424,453 (GRCm39) |
N744K |
possibly damaging |
Het |
| Mcm10 |
C |
A |
2: 5,008,861 (GRCm39) |
L369F |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,355,268 (GRCm39) |
I1018N |
possibly damaging |
Het |
| Myom2 |
T |
C |
8: 15,115,795 (GRCm39) |
L70P |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,877,241 (GRCm39) |
N297K |
unknown |
Het |
| Ncr1 |
C |
T |
7: 4,343,807 (GRCm39) |
T98I |
probably benign |
Het |
| Nek3 |
T |
C |
8: 22,650,278 (GRCm39) |
E78G |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,825,768 (GRCm39) |
N606K |
probably damaging |
Het |
| Nup107 |
T |
G |
10: 117,597,248 (GRCm39) |
D669A |
probably damaging |
Het |
| Or10ag52 |
A |
T |
2: 87,043,758 (GRCm39) |
Q174L |
probably benign |
Het |
| Or10c1 |
A |
T |
17: 37,522,204 (GRCm39) |
I180N |
possibly damaging |
Het |
| Or4c3 |
T |
C |
2: 89,851,673 (GRCm39) |
T246A |
probably benign |
Het |
| Or8b55 |
A |
T |
9: 38,726,871 (GRCm39) |
H24L |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,030,258 (GRCm39) |
V1711A |
probably benign |
Het |
| Pik3c3 |
A |
G |
18: 30,410,063 (GRCm39) |
D99G |
probably damaging |
Het |
| Pinx1 |
C |
A |
14: 64,157,024 (GRCm39) |
T317K |
probably benign |
Het |
| Ppargc1b |
G |
T |
18: 61,431,857 (GRCm39) |
|
probably null |
Het |
| Pradc1 |
T |
A |
6: 85,424,203 (GRCm39) |
I119F |
possibly damaging |
Het |
| Psat1 |
G |
T |
19: 15,892,243 (GRCm39) |
T242K |
probably damaging |
Het |
| Psma6 |
G |
A |
12: 55,454,317 (GRCm39) |
C28Y |
probably damaging |
Het |
| Pyurf |
A |
T |
6: 57,668,817 (GRCm39) |
C58* |
probably null |
Het |
| Rab3gap2 |
C |
A |
1: 185,016,081 (GRCm39) |
A1331E |
probably benign |
Het |
| Rnase4 |
T |
C |
14: 51,342,722 (GRCm39) |
*149Q |
probably null |
Het |
| Ruvbl2 |
T |
C |
7: 45,074,586 (GRCm39) |
K184R |
probably benign |
Het |
| Scn7a |
T |
G |
2: 66,510,527 (GRCm39) |
M1292L |
probably benign |
Het |
| Scn7a |
A |
T |
2: 66,531,231 (GRCm39) |
Y549N |
probably damaging |
Het |
| Selp |
A |
G |
1: 163,959,854 (GRCm39) |
D370G |
possibly damaging |
Het |
| Slc22a15 |
G |
A |
3: 101,767,769 (GRCm39) |
Q386* |
probably null |
Het |
| Slc22a29 |
A |
G |
19: 8,195,126 (GRCm39) |
|
probably null |
Het |
| Slc26a7 |
A |
C |
4: 14,548,491 (GRCm39) |
I266S |
possibly damaging |
Het |
| Smpd4 |
T |
C |
16: 17,443,872 (GRCm39) |
S112P |
probably damaging |
Het |
| Smpd4 |
T |
A |
16: 17,458,744 (GRCm39) |
L165Q |
probably damaging |
Het |
| Snx33 |
A |
G |
9: 56,833,982 (GRCm39) |
I29T |
probably benign |
Het |
| Spen |
G |
A |
4: 141,203,686 (GRCm39) |
P1647L |
unknown |
Het |
| Strip2 |
T |
C |
6: 29,941,940 (GRCm39) |
|
probably null |
Het |
| Swsap1 |
C |
T |
9: 21,867,280 (GRCm39) |
R75* |
probably null |
Het |
| Tesl1 |
A |
G |
X: 23,772,990 (GRCm39) |
I164V |
probably benign |
Het |
| Tmem210 |
C |
T |
2: 25,178,435 (GRCm39) |
T32I |
probably damaging |
Het |
| Tnn |
C |
T |
1: 159,975,154 (GRCm39) |
R91H |
possibly damaging |
Het |
| Tnni1 |
G |
A |
1: 135,736,420 (GRCm39) |
R94H |
probably damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,651,556 (GRCm39) |
V1693D |
probably benign |
Het |
| Trip4 |
G |
A |
9: 65,782,259 (GRCm39) |
Q158* |
probably null |
Het |
| Ttc39b |
T |
C |
4: 83,155,586 (GRCm39) |
E474G |
probably damaging |
Het |
| Usp50 |
C |
A |
2: 126,617,782 (GRCm39) |
C221F |
probably damaging |
Het |
| Vmn1r171 |
T |
C |
7: 23,331,781 (GRCm39) |
I2T |
probably benign |
Het |
| Wdr62 |
T |
A |
7: 29,967,328 (GRCm39) |
I309F |
probably damaging |
Het |
| Xdh |
A |
T |
17: 74,217,204 (GRCm39) |
V688E |
probably damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,285,718 (GRCm39) |
L2353P |
probably damaging |
Het |
| Zgpat |
C |
A |
2: 181,020,633 (GRCm39) |
R269S |
probably damaging |
Het |
|
| Other mutations in Itsn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Itsn2
|
APN |
12 |
4,708,027 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00647:Itsn2
|
APN |
12 |
4,663,311 (GRCm39) |
splice site |
probably benign |
|
|
IGL00933:Itsn2
|
APN |
12 |
4,757,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01686:Itsn2
|
APN |
12 |
4,686,693 (GRCm39) |
splice site |
probably benign |
|
|
IGL01873:Itsn2
|
APN |
12 |
4,682,366 (GRCm39) |
splice site |
probably benign |
|
|
IGL02200:Itsn2
|
APN |
12 |
4,686,632 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02280:Itsn2
|
APN |
12 |
4,758,961 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02388:Itsn2
|
APN |
12 |
4,679,557 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02938:Itsn2
|
APN |
12 |
4,747,216 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Gopher
|
UTSW |
12 |
4,756,983 (GRCm39) |
nonsense |
probably null |
|
|
inversus
|
UTSW |
12 |
4,689,670 (GRCm39) |
nonsense |
probably null |
|
|
Liberator
|
UTSW |
12 |
4,716,176 (GRCm39) |
nonsense |
probably null |
|
|
rolled
|
UTSW |
12 |
4,684,792 (GRCm39) |
nonsense |
probably null |
|
|
Stratofortress
|
UTSW |
12 |
4,674,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Underground
|
UTSW |
12 |
4,751,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Vole
|
UTSW |
12 |
4,723,420 (GRCm39) |
nonsense |
probably null |
|
|
R0101:Itsn2
|
UTSW |
12 |
4,683,058 (GRCm39) |
unclassified |
probably benign |
|
|
R0268:Itsn2
|
UTSW |
12 |
4,750,333 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0584:Itsn2
|
UTSW |
12 |
4,747,180 (GRCm39) |
missense |
probably benign |
|
|
R0604:Itsn2
|
UTSW |
12 |
4,708,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0639:Itsn2
|
UTSW |
12 |
4,762,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0738:Itsn2
|
UTSW |
12 |
4,685,681 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1132:Itsn2
|
UTSW |
12 |
4,708,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Itsn2
|
UTSW |
12 |
4,762,009 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1169:Itsn2
|
UTSW |
12 |
4,689,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1258:Itsn2
|
UTSW |
12 |
4,723,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1297:Itsn2
|
UTSW |
12 |
4,750,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1423:Itsn2
|
UTSW |
12 |
4,723,572 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1572:Itsn2
|
UTSW |
12 |
4,700,044 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1601:Itsn2
|
UTSW |
12 |
4,708,452 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1628:Itsn2
|
UTSW |
12 |
4,679,652 (GRCm39) |
missense |
probably benign |
|
|
R1650:Itsn2
|
UTSW |
12 |
4,687,767 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1752:Itsn2
|
UTSW |
12 |
4,761,950 (GRCm39) |
splice site |
probably null |
|
|
R1942:Itsn2
|
UTSW |
12 |
4,689,670 (GRCm39) |
nonsense |
probably null |
|
|
R1976:Itsn2
|
UTSW |
12 |
4,722,733 (GRCm39) |
splice site |
probably benign |
|
|
R2000:Itsn2
|
UTSW |
12 |
4,716,176 (GRCm39) |
nonsense |
probably null |
|
|
R2060:Itsn2
|
UTSW |
12 |
4,677,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2119:Itsn2
|
UTSW |
12 |
4,757,025 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2168:Itsn2
|
UTSW |
12 |
4,683,044 (GRCm39) |
unclassified |
probably benign |
|
|
R2394:Itsn2
|
UTSW |
12 |
4,757,005 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2860:Itsn2
|
UTSW |
12 |
4,750,315 (GRCm39) |
splice site |
probably benign |
|
|
R2861:Itsn2
|
UTSW |
12 |
4,750,315 (GRCm39) |
splice site |
probably benign |
|
|
R2900:Itsn2
|
UTSW |
12 |
4,680,713 (GRCm39) |
unclassified |
probably benign |
|
|
R2991:Itsn2
|
UTSW |
12 |
4,708,474 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3087:Itsn2
|
UTSW |
12 |
4,716,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3881:Itsn2
|
UTSW |
12 |
4,684,546 (GRCm39) |
unclassified |
probably benign |
|
|
R4022:Itsn2
|
UTSW |
12 |
4,674,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4332:Itsn2
|
UTSW |
12 |
4,762,611 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4657:Itsn2
|
UTSW |
12 |
4,763,197 (GRCm39) |
makesense |
probably null |
|
|
R4727:Itsn2
|
UTSW |
12 |
4,757,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4745:Itsn2
|
UTSW |
12 |
4,711,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4770:Itsn2
|
UTSW |
12 |
4,677,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4905:Itsn2
|
UTSW |
12 |
4,684,583 (GRCm39) |
unclassified |
probably benign |
|
|
R5269:Itsn2
|
UTSW |
12 |
4,683,553 (GRCm39) |
unclassified |
probably benign |
|
|
R5314:Itsn2
|
UTSW |
12 |
4,677,960 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5345:Itsn2
|
UTSW |
12 |
4,722,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:Itsn2
|
UTSW |
12 |
4,703,535 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5566:Itsn2
|
UTSW |
12 |
4,676,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5725:Itsn2
|
UTSW |
12 |
4,680,767 (GRCm39) |
unclassified |
probably benign |
|
|
R5773:Itsn2
|
UTSW |
12 |
4,757,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6116:Itsn2
|
UTSW |
12 |
4,679,939 (GRCm39) |
unclassified |
probably benign |
|
|
R6254:Itsn2
|
UTSW |
12 |
4,674,982 (GRCm39) |
splice site |
probably null |
|
|
R6325:Itsn2
|
UTSW |
12 |
4,756,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6361:Itsn2
|
UTSW |
12 |
4,679,655 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6456:Itsn2
|
UTSW |
12 |
4,679,923 (GRCm39) |
unclassified |
probably benign |
|
|
R6494:Itsn2
|
UTSW |
12 |
4,684,792 (GRCm39) |
nonsense |
probably null |
|
|
R6854:Itsn2
|
UTSW |
12 |
4,702,382 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6941:Itsn2
|
UTSW |
12 |
4,679,641 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6961:Itsn2
|
UTSW |
12 |
4,723,420 (GRCm39) |
nonsense |
probably null |
|
|
R7326:Itsn2
|
UTSW |
12 |
4,682,985 (GRCm39) |
missense |
unknown |
|
|
R7387:Itsn2
|
UTSW |
12 |
4,689,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7465:Itsn2
|
UTSW |
12 |
4,756,983 (GRCm39) |
nonsense |
probably null |
|
|
R7471:Itsn2
|
UTSW |
12 |
4,758,198 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7814:Itsn2
|
UTSW |
12 |
4,708,561 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7854:Itsn2
|
UTSW |
12 |
4,751,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7879:Itsn2
|
UTSW |
12 |
4,751,265 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7990:Itsn2
|
UTSW |
12 |
4,685,629 (GRCm39) |
missense |
unknown |
|
|
R8009:Itsn2
|
UTSW |
12 |
4,714,553 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8115:Itsn2
|
UTSW |
12 |
4,723,602 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8143:Itsn2
|
UTSW |
12 |
4,683,003 (GRCm39) |
missense |
unknown |
|
|
R8248:Itsn2
|
UTSW |
12 |
4,712,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8735:Itsn2
|
UTSW |
12 |
4,721,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8748:Itsn2
|
UTSW |
12 |
4,751,337 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9018:Itsn2
|
UTSW |
12 |
4,708,091 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9386:Itsn2
|
UTSW |
12 |
4,679,730 (GRCm39) |
missense |
unknown |
|
|
R9681:Itsn2
|
UTSW |
12 |
4,683,499 (GRCm39) |
missense |
unknown |
|
|
Z1088:Itsn2
|
UTSW |
12 |
4,762,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCTGAACCTGAGAGTGCTGCG -3'
(R):5'- AATGTGAGCACACTCCGTTACCC -3'
Sequencing Primer
(F):5'- CGCAGTAGTCTATACTCTTGTAAATG -3'
(R):5'- ACCCACGCTTGACTATGATTGG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation