Incidental Mutation 'R6067:Insm2'
| ID |
512233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Insm2
|
| Ensembl Gene |
ENSMUSG00000045440 |
| Gene Name |
insulinoma-associated 2 |
| Synonyms |
mlt 1 |
| MMRRC Submission |
044231-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R6067 (G1)
|
| Quality Score |
153.008 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
55646212-55648818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55646799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 181
(I181T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051857]
[ENSMUST00000085385]
[ENSMUST00000110687]
[ENSMUST00000219432]
[ENSMUST00000220367]
[ENSMUST00000226244]
|
| AlphaFold |
Q9JMC2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051857
AA Change: I181T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061046
Gene: ENSMUSG00000045440
AA Change: I181T
| 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 |
0.1899 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
C |
T |
8: 41,277,630 (GRCm39) |
A7V |
probably benign |
Het |
| Cbfa2t3 |
T |
C |
8: 123,370,236 (GRCm39) |
H53R |
probably benign |
Het |
| Fam90a1b |
T |
C |
X: 93,400,191 (GRCm39) |
N213S |
probably benign |
Het |
| Kitl |
G |
A |
10: 99,912,768 (GRCm39) |
|
probably null |
Het |
| Muc4 |
T |
A |
16: 32,575,621 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
| Nop14 |
T |
C |
5: 34,815,295 (GRCm39) |
D85G |
probably damaging |
Het |
| Pgk1 |
C |
A |
X: 105,238,098 (GRCm39) |
L85I |
possibly damaging |
Het |
| Rad23b |
C |
T |
4: 55,370,400 (GRCm39) |
A142V |
probably damaging |
Het |
| Satl1 |
T |
C |
X: 111,315,613 (GRCm39) |
T281A |
probably benign |
Het |
| Spmap2 |
A |
G |
10: 79,420,589 (GRCm39) |
S159P |
probably damaging |
Het |
| Tbx5 |
T |
C |
5: 120,021,211 (GRCm39) |
S406P |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Zfp1 |
T |
C |
8: 112,396,975 (GRCm39) |
F299S |
probably damaging |
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 |
|
R1166:Insm2
|
UTSW |
12 |
55,647,281 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
PCR Primer
(F):5'- TCCTGGTGAAGCGAACCAAG -3'
(R):5'- TGAAGACCTTGTCGCACTC -3'
Sequencing Primer
(F):5'- GGTCTCTGCGGAGTCCTTC -3'
(R):5'- ACTCGGGACAGCGGTACTC -3'
|
| Posted On |
2018-04-12 |
Incidental Mutation