Incidental Mutation 'R1166:Insm2'
| ID |
101036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Insm2
|
| Ensembl Gene |
ENSMUSG00000045440 |
| Gene Name |
insulinoma-associated 2 |
| Synonyms |
mlt 1 |
| MMRRC Submission |
039239-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R1166 (G1)
|
| Quality Score |
150 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
55646212-55648818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55647281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 342
(S342P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051857]
[ENSMUST00000085385]
[ENSMUST00000110687]
[ENSMUST00000219432]
[ENSMUST00000220367]
[ENSMUST00000226244]
|
| AlphaFold |
Q9JMC2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051857
AA Change: S342P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000061046
Gene: ENSMUSG00000045440
AA Change: S342P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
136 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
203 |
223 |
1.98e2 |
SMART |
|
ZnF_C2H2
|
231 |
253 |
7.15e-2 |
SMART |
|
low complexity region
|
341 |
349 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
354 |
376 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
1.02e1 |
SMART |
|
low complexity region
|
433 |
448 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
452 |
475 |
4.11e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085385
|
| SMART Domains |
Protein: ENSMUSP00000082503
Gene: ENSMUSG00000021027
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
644 |
651 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
894 |
915 |
N/A |
INTRINSIC |
|
low complexity region
|
1386 |
1395 |
N/A |
INTRINSIC |
|
low complexity region
|
1784 |
1798 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
1824 |
2003 |
7.4e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110687
|
| SMART Domains |
Protein: ENSMUSP00000106315
Gene: ENSMUSG00000021027
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
644 |
651 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
894 |
915 |
N/A |
INTRINSIC |
|
low complexity region
|
1386 |
1395 |
N/A |
INTRINSIC |
|
low complexity region
|
1784 |
1798 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
1824 |
2001 |
1.9e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219516
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220367
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226244
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.0%
- 20x: 86.3%
|
| Validation Efficiency |
96% (43/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,547,880 (GRCm39) |
K286R |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,302,581 (GRCm39) |
|
probably benign |
Het |
| Ccdc175 |
T |
G |
12: 72,152,706 (GRCm39) |
K733T |
probably damaging |
Het |
| Cenpn |
T |
G |
8: 117,652,946 (GRCm39) |
I39R |
probably damaging |
Het |
| Cfap53 |
A |
T |
18: 74,433,251 (GRCm39) |
Y112F |
possibly damaging |
Het |
| Cngb1 |
C |
A |
8: 95,986,809 (GRCm39) |
C361F |
probably damaging |
Het |
| Ctf2 |
T |
C |
7: 127,318,685 (GRCm39) |
T105A |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,364,970 (GRCm39) |
T3584S |
probably damaging |
Het |
| Ebf3 |
C |
T |
7: 136,914,896 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,514,265 (GRCm39) |
|
probably benign |
Het |
| Fbxo17 |
T |
A |
7: 28,432,953 (GRCm39) |
V158E |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,436,066 (GRCm39) |
E322G |
probably benign |
Het |
| Gm5698 |
G |
T |
1: 31,016,366 (GRCm39) |
D228E |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,059,277 (GRCm39) |
D248E |
probably benign |
Het |
| Krt36 |
G |
A |
11: 99,993,654 (GRCm39) |
R395C |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,506,209 (GRCm39) |
S1920P |
probably benign |
Het |
| Lsm14b |
T |
A |
2: 179,673,334 (GRCm39) |
|
probably benign |
Het |
| Map1a |
A |
G |
2: 121,130,741 (GRCm39) |
E519G |
probably damaging |
Het |
| Mfsd14a |
T |
C |
3: 116,427,543 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b5 |
T |
C |
10: 39,846,419 (GRCm39) |
Y387C |
probably damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,154,449 (GRCm39) |
N1063D |
possibly damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,524,217 (GRCm39) |
H421L |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or4a81 |
A |
G |
2: 89,619,675 (GRCm39) |
V7A |
possibly damaging |
Het |
| Pacrg |
A |
T |
17: 10,622,268 (GRCm39) |
Y235* |
probably null |
Het |
| Pde4dip |
T |
A |
3: 97,620,512 (GRCm39) |
D1629V |
possibly damaging |
Het |
| Prl8a2 |
G |
T |
13: 27,537,935 (GRCm39) |
S204I |
possibly damaging |
Het |
| Sec24a |
A |
T |
11: 51,624,294 (GRCm39) |
M356K |
possibly damaging |
Het |
| Sh3tc2 |
A |
C |
18: 62,124,247 (GRCm39) |
S972R |
probably damaging |
Het |
| Shc2 |
C |
T |
10: 79,456,946 (GRCm39) |
V557M |
probably damaging |
Het |
| Slc2a9 |
A |
G |
5: 38,539,384 (GRCm39) |
|
probably null |
Het |
| Tcaf1 |
T |
C |
6: 42,655,612 (GRCm39) |
I455V |
probably benign |
Het |
| Umodl1 |
T |
G |
17: 31,221,772 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
T |
C |
17: 15,112,733 (GRCm39) |
T658A |
probably damaging |
Het |
| Zfp318 |
T |
C |
17: 46,720,618 (GRCm39) |
Y1119H |
possibly damaging |
Het |
| Zfp939 |
C |
A |
7: 39,122,763 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Insm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
hawaii
|
UTSW |
12 |
55,646,621 (GRCm39) |
nonsense |
probably null |
|
|
Luau
|
UTSW |
12 |
55,646,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0646:Insm2
|
UTSW |
12 |
55,647,225 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2508:Insm2
|
UTSW |
12 |
55,647,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3978:Insm2
|
UTSW |
12 |
55,647,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4716:Insm2
|
UTSW |
12 |
55,647,677 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4884:Insm2
|
UTSW |
12 |
55,646,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5154:Insm2
|
UTSW |
12 |
55,646,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6067:Insm2
|
UTSW |
12 |
55,646,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6078:Insm2
|
UTSW |
12 |
55,646,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6138:Insm2
|
UTSW |
12 |
55,646,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6424:Insm2
|
UTSW |
12 |
55,646,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6969:Insm2
|
UTSW |
12 |
55,646,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7069:Insm2
|
UTSW |
12 |
55,646,621 (GRCm39) |
nonsense |
probably null |
|
|
R7117:Insm2
|
UTSW |
12 |
55,647,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7252:Insm2
|
UTSW |
12 |
55,647,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7289:Insm2
|
UTSW |
12 |
55,647,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7537:Insm2
|
UTSW |
12 |
55,646,303 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7831:Insm2
|
UTSW |
12 |
55,647,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8224:Insm2
|
UTSW |
12 |
55,646,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8478:Insm2
|
UTSW |
12 |
55,647,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9759:Insm2
|
UTSW |
12 |
55,647,390 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
U15987:Insm2
|
UTSW |
12 |
55,646,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Insm2
|
UTSW |
12 |
55,646,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Insm2
|
UTSW |
12 |
55,647,141 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation