Incidental Mutation 'R2859:Ism2'
ID |
334560 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ism2
|
Ensembl Gene |
ENSMUSG00000050671 |
Gene Name |
isthmin 2 |
Synonyms |
LOC217738, Thsd3 |
MMRRC Submission |
040449-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2859 (G1)
|
Quality Score |
39 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
87325412-87346479 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87346437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 15
(M15V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117108
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000125733]
|
AlphaFold |
D3Z6A3 |
Predicted Effect |
unknown
Transcript: ENSMUST00000125733
AA Change: M15V
|
SMART Domains |
Protein: ENSMUSP00000117108 Gene: ENSMUSG00000050671 AA Change: M15V
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 |
|
Meta Mutation Damage Score |
0.0869 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,500,288 (GRCm39) |
Y1301C |
possibly damaging |
Het |
Amfr |
A |
T |
8: 94,731,842 (GRCm39) |
N11K |
probably damaging |
Het |
Cadm3 |
A |
G |
1: 173,174,112 (GRCm39) |
S34P |
possibly damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,218,432 (GRCm39) |
|
probably null |
Het |
Ceacam1 |
T |
A |
7: 25,173,442 (GRCm39) |
I249F |
probably damaging |
Het |
Cuzd1 |
C |
T |
7: 130,917,863 (GRCm39) |
V246M |
probably damaging |
Het |
Ehd2 |
A |
T |
7: 15,698,054 (GRCm39) |
V61E |
probably damaging |
Het |
Fibin |
C |
T |
2: 110,192,542 (GRCm39) |
R200H |
probably damaging |
Het |
Fmo9 |
A |
C |
1: 166,501,236 (GRCm39) |
F237C |
probably damaging |
Het |
Garin3 |
T |
C |
11: 46,296,039 (GRCm39) |
I137T |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Iqgap3 |
C |
A |
3: 88,014,903 (GRCm39) |
S873* |
probably null |
Het |
Itk |
T |
G |
11: 46,235,662 (GRCm39) |
|
probably benign |
Het |
Mastl |
C |
A |
2: 23,029,979 (GRCm39) |
C249F |
probably damaging |
Het |
Mink1 |
T |
C |
11: 70,503,334 (GRCm39) |
V1143A |
probably damaging |
Het |
Mrgprb4 |
T |
A |
7: 47,848,084 (GRCm39) |
R281S |
possibly damaging |
Het |
Mthfd1 |
T |
C |
12: 76,335,699 (GRCm39) |
Y258H |
probably damaging |
Het |
Ntmt1 |
A |
G |
2: 30,712,377 (GRCm39) |
H140R |
probably damaging |
Het |
Or1j12 |
T |
C |
2: 36,343,142 (GRCm39) |
S182P |
probably benign |
Het |
Or3a10 |
C |
T |
11: 73,935,653 (GRCm39) |
G149D |
possibly damaging |
Het |
Or3a1b |
T |
C |
11: 74,012,808 (GRCm39) |
I231T |
probably damaging |
Het |
Or9e1 |
T |
A |
11: 58,732,708 (GRCm39) |
V256E |
probably benign |
Het |
Parm1 |
A |
G |
5: 91,742,165 (GRCm39) |
T178A |
possibly damaging |
Het |
Patl1 |
T |
C |
19: 11,901,195 (GRCm39) |
F282L |
probably damaging |
Het |
Phospho2 |
T |
C |
2: 69,626,195 (GRCm39) |
V117A |
possibly damaging |
Het |
Ppp4r3a |
T |
C |
12: 101,008,906 (GRCm39) |
|
probably null |
Het |
Pramel29 |
A |
G |
4: 143,936,192 (GRCm39) |
S23P |
probably benign |
Het |
Rbm17 |
A |
G |
2: 11,595,515 (GRCm39) |
F230S |
possibly damaging |
Het |
Robo3 |
C |
A |
9: 37,339,400 (GRCm39) |
G196* |
probably null |
Het |
Samhd1 |
A |
G |
2: 156,948,149 (GRCm39) |
|
probably null |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Thbs4 |
A |
G |
13: 92,927,216 (GRCm39) |
F91S |
probably benign |
Het |
Trim34b |
A |
T |
7: 103,985,439 (GRCm39) |
N358I |
probably benign |
Het |
Ulk1 |
A |
G |
5: 110,942,495 (GRCm39) |
L255P |
probably damaging |
Het |
Vmn2r104 |
T |
A |
17: 20,268,455 (GRCm39) |
I5F |
possibly damaging |
Het |
Vrk2 |
C |
A |
11: 26,433,324 (GRCm39) |
S286I |
possibly damaging |
Het |
Zswim3 |
T |
C |
2: 164,662,309 (GRCm39) |
L263P |
probably damaging |
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 |
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'- GGAGAGTGTAAACTCCTGCG -3'
(R):5'- TTTCCCGGGACAGGAATTC -3'
Sequencing Primer
(F):5'- TAAACTCCTGCGGGCTCAGTG -3'
(R):5'- ACAGGAATTCGCTTGGGGC -3'
|
Posted On |
2015-09-02 |