Incidental Mutation 'R4115:Ism2'
ID |
314604 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ism2
|
Ensembl Gene |
ENSMUSG00000050671 |
Gene Name |
isthmin 2 |
Synonyms |
LOC217738, Thsd3 |
MMRRC Submission |
041630-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4115 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
87325412-87346479 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87333805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 80
(I80T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117108
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051601]
[ENSMUST00000125733]
|
AlphaFold |
D3Z6A3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051601
AA Change: I36T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000053451 Gene: ENSMUSG00000050671 AA Change: I36T
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
TSP1
|
206 |
248 |
3.9e-7 |
SMART |
AMOP
|
273 |
437 |
1.21e-75 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125733
AA Change: I80T
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000117108 Gene: ENSMUSG00000050671 AA Change: I80T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
TSP1
|
250 |
292 |
3.9e-7 |
SMART |
AMOP
|
317 |
481 |
1.21e-75 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145714
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
Aplp2 |
C |
T |
9: 31,069,122 (GRCm39) |
R569Q |
probably benign |
Het |
BC035044 |
C |
T |
6: 128,867,813 (GRCm39) |
|
probably benign |
Het |
Camta2 |
T |
C |
11: 70,567,300 (GRCm39) |
M626V |
possibly damaging |
Het |
Cdh20 |
G |
A |
1: 110,066,039 (GRCm39) |
R771Q |
probably benign |
Het |
Chd3 |
T |
G |
11: 69,248,343 (GRCm39) |
I850L |
possibly damaging |
Het |
Cspg4 |
T |
A |
9: 56,805,678 (GRCm39) |
L2163Q |
probably damaging |
Het |
Cyp2c66 |
A |
G |
19: 39,165,003 (GRCm39) |
D328G |
possibly damaging |
Het |
Dcun1d3 |
T |
C |
7: 119,458,957 (GRCm39) |
N26S |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,354,272 (GRCm39) |
Y391* |
probably null |
Het |
Gnl3 |
T |
G |
14: 30,738,813 (GRCm39) |
K79Q |
probably damaging |
Het |
Hat1 |
A |
G |
2: 71,271,566 (GRCm39) |
T380A |
probably benign |
Het |
Hectd1 |
A |
T |
12: 51,815,506 (GRCm39) |
L1527* |
probably null |
Het |
Ighv11-1 |
A |
G |
12: 113,945,685 (GRCm39) |
V56A |
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
Kif1a |
T |
A |
1: 92,980,260 (GRCm39) |
E823V |
probably damaging |
Het |
Letm2 |
T |
A |
8: 26,070,343 (GRCm39) |
K432* |
probably null |
Het |
LTO1 |
G |
A |
7: 144,473,383 (GRCm39) |
V142M |
possibly damaging |
Het |
Mc4r |
T |
A |
18: 66,993,050 (GRCm39) |
Y21F |
probably benign |
Het |
Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
Mycbpap |
C |
A |
11: 94,403,051 (GRCm39) |
|
probably null |
Het |
Nfkbil1 |
A |
G |
17: 35,440,286 (GRCm39) |
M129T |
probably damaging |
Het |
Notch3 |
C |
A |
17: 32,377,407 (GRCm39) |
C223F |
probably damaging |
Het |
Nrcam |
T |
C |
12: 44,613,109 (GRCm39) |
V606A |
possibly damaging |
Het |
Nudcd2 |
T |
C |
11: 40,627,434 (GRCm39) |
M118T |
probably damaging |
Het |
Or1j13 |
A |
T |
2: 36,369,797 (GRCm39) |
L115Q |
probably damaging |
Het |
Pcsk5 |
C |
T |
19: 17,410,783 (GRCm39) |
D1870N |
unknown |
Het |
Pde3b |
T |
C |
7: 114,120,962 (GRCm39) |
F696L |
probably damaging |
Het |
Pde8a |
T |
A |
7: 80,932,555 (GRCm39) |
|
probably null |
Het |
Pgm1 |
C |
T |
4: 99,819,348 (GRCm39) |
Q191* |
probably null |
Het |
Pramel21 |
A |
G |
4: 143,344,026 (GRCm39) |
D442G |
probably benign |
Het |
Psg20 |
A |
G |
7: 18,419,905 (GRCm39) |
S5P |
probably damaging |
Het |
Reps1 |
C |
T |
10: 17,979,955 (GRCm39) |
P397S |
possibly damaging |
Het |
Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
Spata13 |
G |
T |
14: 60,929,927 (GRCm39) |
G168V |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,067,923 (GRCm39) |
W2117R |
probably damaging |
Het |
Sptbn4 |
C |
T |
7: 27,090,995 (GRCm39) |
E1399K |
probably damaging |
Het |
Tek |
T |
C |
4: 94,737,920 (GRCm39) |
S657P |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,667,299 (GRCm39) |
L607S |
probably damaging |
Het |
Trpm6 |
T |
C |
19: 18,809,921 (GRCm39) |
W1106R |
probably damaging |
Het |
Tssk3 |
T |
C |
4: 129,383,300 (GRCm39) |
Y124C |
probably damaging |
Het |
Ugt2b1 |
A |
G |
5: 87,074,273 (GRCm39) |
W29R |
probably damaging |
Het |
Vmn2r97 |
T |
C |
17: 19,148,332 (GRCm39) |
F76L |
probably benign |
Het |
|
Other mutations in Ism2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
Aedes
|
UTSW |
12 |
87,326,969 (GRCm39) |
missense |
probably damaging |
1.00 |
canal
|
UTSW |
12 |
87,326,835 (GRCm39) |
missense |
probably damaging |
1.00 |
narrows
|
UTSW |
12 |
87,332,113 (GRCm39) |
missense |
probably damaging |
1.00 |
panamin
|
UTSW |
12 |
87,333,658 (GRCm39) |
splice site |
probably null |
|
Zone
|
UTSW |
12 |
87,346,437 (GRCm39) |
missense |
unknown |
|
PIT4243001:Ism2
|
UTSW |
12 |
87,333,832 (GRCm39) |
missense |
probably benign |
0.00 |
R0544:Ism2
|
UTSW |
12 |
87,332,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R0747:Ism2
|
UTSW |
12 |
87,332,172 (GRCm39) |
splice site |
probably benign |
|
R2258:Ism2
|
UTSW |
12 |
87,326,848 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2859:Ism2
|
UTSW |
12 |
87,346,437 (GRCm39) |
missense |
unknown |
|
R3423:Ism2
|
UTSW |
12 |
87,333,871 (GRCm39) |
missense |
probably benign |
0.00 |
R3425:Ism2
|
UTSW |
12 |
87,333,871 (GRCm39) |
missense |
probably benign |
0.00 |
R4713:Ism2
|
UTSW |
12 |
87,331,801 (GRCm39) |
splice site |
silent |
|
R4769:Ism2
|
UTSW |
12 |
87,346,355 (GRCm39) |
missense |
probably benign |
0.06 |
R5313:Ism2
|
UTSW |
12 |
87,326,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R5857:Ism2
|
UTSW |
12 |
87,326,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R5984:Ism2
|
UTSW |
12 |
87,333,809 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6389:Ism2
|
UTSW |
12 |
87,329,145 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6838:Ism2
|
UTSW |
12 |
87,326,975 (GRCm39) |
missense |
probably benign |
0.23 |
R7019:Ism2
|
UTSW |
12 |
87,346,437 (GRCm39) |
missense |
unknown |
|
R7358:Ism2
|
UTSW |
12 |
87,326,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R7427:Ism2
|
UTSW |
12 |
87,333,769 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7428:Ism2
|
UTSW |
12 |
87,333,769 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7777:Ism2
|
UTSW |
12 |
87,333,658 (GRCm39) |
splice site |
probably null |
|
R7824:Ism2
|
UTSW |
12 |
87,326,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R7973:Ism2
|
UTSW |
12 |
87,333,769 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9006:Ism2
|
UTSW |
12 |
87,326,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R9274:Ism2
|
UTSW |
12 |
87,331,827 (GRCm39) |
nonsense |
probably null |
|
R9306:Ism2
|
UTSW |
12 |
87,333,826 (GRCm39) |
missense |
probably benign |
0.45 |
Z1177:Ism2
|
UTSW |
12 |
87,326,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGGTTAGGCTCAGTTGC -3'
(R):5'- TAAACATGTGCTCCAGGTGCTC -3'
Sequencing Primer
(F):5'- TCAGTTGCCAGCCTAGCAC -3'
(R):5'- TCCAGGTGCTCACAGTCACAG -3'
|
Posted On |
2015-05-14 |