Incidental Mutation 'PIT4243001:Ism2'
| ID |
554468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ism2
|
| Ensembl Gene |
ENSMUSG00000050671 |
| Gene Name |
isthmin 2 |
| Synonyms |
LOC217738, Thsd3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4243001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
87325412-87346479 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87333832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 71
(E71G)
|
| 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: E27G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000053451
Gene: ENSMUSG00000050671
AA Change: E27G
| 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: E71G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117108
Gene: ENSMUSG00000050671
AA Change: E71G
| 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 |
|
| Coding Region Coverage |
- 1x: 92.7%
- 3x: 90.5%
- 10x: 85.2%
- 20x: 74.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,119,999 (GRCm39) |
E252V |
possibly damaging |
Het |
| Abhd13 |
T |
C |
8: 10,037,967 (GRCm39) |
F188S |
possibly damaging |
Het |
| Abtb1 |
A |
G |
6: 88,815,708 (GRCm39) |
V225A |
probably benign |
Het |
| Accs |
A |
G |
2: 93,671,679 (GRCm39) |
M237T |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,236,271 (GRCm39) |
I380T |
probably damaging |
Het |
| Add3 |
T |
C |
19: 53,225,121 (GRCm39) |
S414P |
probably benign |
Het |
| Ak3 |
C |
T |
19: 29,015,271 (GRCm39) |
|
probably null |
Het |
| Atg14 |
T |
C |
14: 47,792,031 (GRCm39) |
E132G |
possibly damaging |
Het |
| Bcl2l11 |
A |
G |
2: 127,989,026 (GRCm39) |
E135G |
probably benign |
Het |
| Brwd1 |
G |
A |
16: 95,803,871 (GRCm39) |
Q2100* |
probably null |
Het |
| Card11 |
A |
C |
5: 140,894,359 (GRCm39) |
V90G |
possibly damaging |
Het |
| Celsr3 |
T |
C |
9: 108,709,507 (GRCm39) |
V1451A |
probably benign |
Het |
| Clip4 |
T |
C |
17: 72,113,723 (GRCm39) |
I291T |
probably damaging |
Het |
| Clk1 |
C |
T |
1: 58,458,836 (GRCm39) |
D179N |
probably damaging |
Het |
| Cyp11b2 |
A |
G |
15: 74,723,302 (GRCm39) |
L454P |
probably damaging |
Het |
| Cyp2a12 |
C |
A |
7: 26,734,198 (GRCm39) |
S377Y |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,883,446 (GRCm39) |
S663P |
unknown |
Het |
| Erich6 |
G |
A |
3: 58,537,300 (GRCm39) |
T238I |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,279,489 (GRCm39) |
H132Q |
probably benign |
Het |
| Hk2 |
A |
G |
6: 82,707,858 (GRCm39) |
C704R |
probably damaging |
Het |
| Ift74 |
A |
T |
4: 94,575,141 (GRCm39) |
R531W |
possibly damaging |
Het |
| Lipe |
A |
C |
7: 25,094,971 (GRCm39) |
S22A |
probably benign |
Het |
| Myl10 |
A |
G |
5: 136,723,147 (GRCm39) |
D32G |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 45,693,705 (GRCm39) |
H179R |
probably damaging |
Het |
| Or1ad6 |
T |
C |
11: 50,860,379 (GRCm39) |
F178S |
probably damaging |
Het |
| Or2n1b |
T |
C |
17: 38,460,394 (GRCm39) |
F305S |
probably benign |
Het |
| Pdpn |
T |
A |
4: 142,997,108 (GRCm39) |
T129S |
probably damaging |
Het |
| Pold1 |
C |
T |
7: 44,191,582 (GRCm39) |
V135I |
possibly damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,807,134 (GRCm39) |
N199K |
probably damaging |
Het |
| Skil |
T |
C |
3: 31,167,714 (GRCm39) |
S449P |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 69,892,540 (GRCm39) |
L107P |
probably damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,087 (GRCm39) |
M430T |
probably damaging |
Het |
| Tnfaip3 |
G |
A |
10: 18,887,322 (GRCm39) |
L68F |
probably damaging |
Het |
| Trrap |
G |
A |
5: 144,733,781 (GRCm39) |
R878H |
probably benign |
Het |
| Vasn |
T |
C |
16: 4,467,480 (GRCm39) |
S476P |
probably damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,802,379 (GRCm39) |
M499L |
probably benign |
Het |
| Wwp1 |
T |
C |
4: 19,638,631 (GRCm39) |
T571A |
probably damaging |
Het |
| Zfp608 |
C |
A |
18: 55,031,096 (GRCm39) |
G948V |
probably damaging |
Het |
| Zswim5 |
A |
G |
4: 116,841,975 (GRCm39) |
I852V |
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 |
|
|
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 |
|
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'- AAGGGTTAGGCTCAGTTGC -3'
(R):5'- AACATGTGCTCCAGGTGCTC -3'
Sequencing Primer
(F):5'- GAGGTTCCCCTAGGCAAACAATG -3'
(R):5'- TCCAGGTGCTCACAGTCACAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation