Incidental Mutation 'R3425:Ism2'
| ID |
271733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ism2
|
| Ensembl Gene |
ENSMUSG00000050671 |
| Gene Name |
isthmin 2 |
| Synonyms |
LOC217738, Thsd3 |
| MMRRC Submission |
040643-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3425 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
87325412-87346479 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87333871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 58
(N58S)
|
| 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: N14S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000053451
Gene: ENSMUSG00000050671
AA Change: N14S
| 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: N58S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000117108
Gene: ENSMUSG00000050671
AA Change: N58S
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5m1 |
A |
G |
14: 49,311,140 (GRCm39) |
E70G |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,372,181 (GRCm39) |
E16G |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,710,648 (GRCm39) |
D1646E |
probably damaging |
Het |
| Cyp2c70 |
G |
T |
19: 40,172,468 (GRCm39) |
A58E |
probably damaging |
Het |
| Ddx11 |
T |
C |
17: 66,446,434 (GRCm39) |
I415T |
possibly damaging |
Het |
| Gm8674 |
T |
A |
13: 50,055,792 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T22 |
A |
C |
17: 36,352,472 (GRCm39) |
L151R |
probably damaging |
Het |
| Hmgcs1 |
C |
A |
13: 120,166,668 (GRCm39) |
P420Q |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,293,248 (GRCm39) |
E575G |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,193,991 (GRCm39) |
E103G |
probably damaging |
Het |
| Klf15 |
T |
C |
6: 90,443,802 (GRCm39) |
S126P |
probably benign |
Het |
| Mapt |
C |
T |
11: 104,189,548 (GRCm39) |
R189* |
probably null |
Het |
| Meltf |
C |
T |
16: 31,715,343 (GRCm39) |
R679* |
probably null |
Het |
| Myo1d |
T |
C |
11: 80,492,464 (GRCm39) |
T764A |
probably benign |
Het |
| Mypn |
T |
C |
10: 62,954,196 (GRCm39) |
|
probably benign |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,752,950 (GRCm39) |
E309K |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,635,560 (GRCm39) |
D381G |
probably benign |
Het |
| Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
| Scel |
T |
G |
14: 103,845,542 (GRCm39) |
V559G |
possibly damaging |
Het |
| Sez6l |
T |
C |
5: 112,574,615 (GRCm39) |
D875G |
probably damaging |
Het |
| Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
| Slc36a3 |
G |
T |
11: 55,033,607 (GRCm39) |
T137K |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,768,976 (GRCm39) |
S295R |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,800,321 (GRCm39) |
N587K |
possibly damaging |
Het |
| Upp1 |
T |
C |
11: 9,075,700 (GRCm39) |
|
probably null |
Het |
| Zp1 |
G |
A |
19: 10,895,956 (GRCm39) |
R227W |
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 |
|
R4115:Ism2
|
UTSW |
12 |
87,333,805 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- CAAGTCTGTGTTGGCCAACC -3'
(R):5'- TCACTAGAGCCCTATGTGGC -3'
Sequencing Primer
(F):5'- AACCCTGGTAGCTTCTGCAG -3'
(R):5'- AGTGAACACAGTCCATTTTTCTCTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation