Incidental Mutation 'R6424:Insm2'
| ID |
518271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Insm2
|
| Ensembl Gene |
ENSMUSG00000045440 |
| Gene Name |
insulinoma-associated 2 |
| Synonyms |
mlt 1 |
| MMRRC Submission |
044387-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R6424 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
55646212-55648818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55646867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 204
(I204F)
|
| 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: I204F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000061046
Gene: ENSMUSG00000045440
AA Change: I204F
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,460,542 (GRCm39) |
V4184A |
probably benign |
Het |
| Acvr2b |
T |
A |
9: 119,231,645 (GRCm39) |
W12R |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,840,707 (GRCm39) |
K720E |
probably damaging |
Het |
| Cr1l |
A |
C |
1: 194,800,123 (GRCm39) |
F184V |
probably damaging |
Het |
| Haus8 |
C |
T |
8: 71,704,080 (GRCm39) |
W359* |
probably null |
Het |
| Katnb1 |
T |
A |
8: 95,820,144 (GRCm39) |
I97N |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,453,946 (GRCm39) |
K945N |
possibly damaging |
Het |
| Meltf |
T |
A |
16: 31,699,080 (GRCm39) |
C63* |
probably null |
Het |
| Nbas |
T |
C |
12: 13,465,734 (GRCm39) |
|
probably null |
Het |
| Or5p1 |
G |
A |
7: 107,916,412 (GRCm39) |
V104I |
probably benign |
Het |
| Raf1 |
T |
C |
6: 115,596,542 (GRCm39) |
E594G |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Scgb2b19 |
A |
C |
7: 32,978,022 (GRCm39) |
S92A |
possibly damaging |
Het |
| Serpinb3c |
T |
A |
1: 107,199,359 (GRCm39) |
*387Y |
probably null |
Het |
| Shpk |
A |
T |
11: 73,104,318 (GRCm39) |
I156F |
possibly damaging |
Het |
| Smarcd1 |
T |
C |
15: 99,602,248 (GRCm39) |
F128L |
probably damaging |
Het |
| Tars3 |
G |
A |
7: 65,305,487 (GRCm39) |
G237E |
probably damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,719,848 (GRCm39) |
|
probably benign |
Het |
| Vmn1r223 |
T |
A |
13: 23,434,345 (GRCm39) |
I313N |
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 |
|
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 |
|
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'- GGTCTCTGCGGAGTCCTTC -3'
(R):5'- CGGGTACACTAGAGCCTGTAGG -3'
Sequencing Primer
(F):5'- AGGAGTTGGTACCGCCG -3'
(R):5'- GAGGTTTACTCGCGGCG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation