Incidental Mutation 'R3618:Inava'
ID |
268495 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inava
|
Ensembl Gene |
ENSMUSG00000041605 |
Gene Name |
innate immunity activator |
Synonyms |
5730559C18Rik |
MMRRC Submission |
040675-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3618 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
136141269-136162002 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 136142110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 663
(V663G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113785
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120339]
[ENSMUST00000168561]
[ENSMUST00000212798]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000120339
AA Change: V663G
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000113785 Gene: ENSMUSG00000041605 AA Change: V663G
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
65 |
N/A |
INTRINSIC |
Pfam:DUF3338
|
101 |
230 |
6.2e-57 |
PFAM |
low complexity region
|
273 |
316 |
N/A |
INTRINSIC |
low complexity region
|
353 |
362 |
N/A |
INTRINSIC |
low complexity region
|
466 |
489 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168561
|
SMART Domains |
Protein: ENSMUSP00000130772 Gene: ENSMUSG00000087230
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
126 |
669 |
2e-7 |
SMART |
low complexity region
|
677 |
684 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168561
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180496
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212798
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,774,168 (GRCm39) |
E1119G |
probably damaging |
Het |
Ahnak2 |
A |
G |
12: 112,749,842 (GRCm39) |
I132T |
probably damaging |
Het |
Arhgap29 |
G |
A |
3: 121,782,176 (GRCm39) |
D63N |
possibly damaging |
Het |
Bsn |
T |
A |
9: 107,994,760 (GRCm39) |
|
probably null |
Het |
Cfap161 |
A |
C |
7: 83,429,390 (GRCm39) |
Y209* |
probably null |
Het |
Drp2 |
A |
C |
X: 133,340,717 (GRCm39) |
D458A |
probably benign |
Het |
Efcab6 |
T |
C |
15: 83,834,270 (GRCm39) |
H446R |
probably benign |
Het |
Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
F13a1 |
G |
A |
13: 37,127,967 (GRCm39) |
T337I |
probably damaging |
Het |
Fhod3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
18: 25,153,722 (GRCm39) |
|
probably benign |
Het |
Hcfc1 |
A |
T |
X: 72,993,694 (GRCm39) |
V1157D |
probably benign |
Het |
Ino80 |
T |
C |
2: 119,277,353 (GRCm39) |
D374G |
probably null |
Het |
Kif1a |
T |
C |
1: 93,004,765 (GRCm39) |
E143G |
probably null |
Het |
Larp1 |
A |
T |
11: 57,948,172 (GRCm39) |
E990D |
probably benign |
Het |
Larp7 |
C |
A |
3: 127,330,614 (GRCm39) |
E568* |
probably null |
Het |
Ltn1 |
A |
T |
16: 87,217,787 (GRCm39) |
S298R |
probably damaging |
Het |
Mcm10 |
A |
G |
2: 5,001,913 (GRCm39) |
|
probably null |
Het |
Mef2a |
G |
A |
7: 66,918,075 (GRCm39) |
S111L |
probably benign |
Het |
Mroh1 |
A |
G |
15: 76,336,546 (GRCm39) |
T1590A |
possibly damaging |
Het |
Ncoa6 |
A |
T |
2: 155,249,709 (GRCm39) |
H1198Q |
possibly damaging |
Het |
Ogg1 |
A |
G |
6: 113,305,334 (GRCm39) |
E49G |
probably damaging |
Het |
Palm3 |
T |
A |
8: 84,755,973 (GRCm39) |
V495E |
probably benign |
Het |
Pam |
A |
G |
1: 97,762,157 (GRCm39) |
F809L |
probably damaging |
Het |
Parp3 |
T |
C |
9: 106,352,262 (GRCm39) |
E88G |
possibly damaging |
Het |
Ptprs |
A |
G |
17: 56,735,965 (GRCm39) |
I156T |
probably benign |
Het |
Pus7l |
T |
A |
15: 94,425,788 (GRCm39) |
I538F |
probably damaging |
Het |
Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
Ryr2 |
C |
T |
13: 11,787,466 (GRCm39) |
|
probably null |
Het |
Slc8a2 |
A |
G |
7: 15,886,824 (GRCm39) |
N656D |
possibly damaging |
Het |
Stard9 |
C |
T |
2: 120,529,500 (GRCm39) |
T1919I |
possibly damaging |
Het |
Tbcel |
T |
C |
9: 42,372,591 (GRCm39) |
|
probably benign |
Het |
Trpv3 |
A |
T |
11: 73,186,281 (GRCm39) |
I691F |
probably damaging |
Het |
Uba2 |
A |
G |
7: 33,853,907 (GRCm39) |
|
probably null |
Het |
Usp53 |
A |
C |
3: 122,728,061 (GRCm39) |
S840R |
probably benign |
Het |
Vmn2r100 |
A |
T |
17: 19,743,692 (GRCm39) |
I452F |
probably benign |
Het |
Zbtb48 |
A |
T |
4: 152,110,484 (GRCm39) |
|
probably null |
Het |
Zfp385b |
G |
A |
2: 77,246,233 (GRCm39) |
P177S |
probably benign |
Het |
Zfp42 |
T |
C |
8: 43,748,938 (GRCm39) |
R188G |
possibly damaging |
Het |
|
Other mutations in Inava |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01621:Inava
|
APN |
1 |
136,147,513 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02466:Inava
|
APN |
1 |
136,144,173 (GRCm39) |
splice site |
probably null |
|
IGL03408:Inava
|
APN |
1 |
136,142,143 (GRCm39) |
missense |
probably benign |
|
R0053:Inava
|
UTSW |
1 |
136,155,288 (GRCm39) |
missense |
probably benign |
0.01 |
R0053:Inava
|
UTSW |
1 |
136,155,288 (GRCm39) |
missense |
probably benign |
0.01 |
R0632:Inava
|
UTSW |
1 |
136,155,356 (GRCm39) |
missense |
probably benign |
0.06 |
R1218:Inava
|
UTSW |
1 |
136,142,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R1611:Inava
|
UTSW |
1 |
136,143,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R4256:Inava
|
UTSW |
1 |
136,142,088 (GRCm39) |
missense |
probably benign |
0.00 |
R4348:Inava
|
UTSW |
1 |
136,153,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R4350:Inava
|
UTSW |
1 |
136,153,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R4353:Inava
|
UTSW |
1 |
136,153,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R5343:Inava
|
UTSW |
1 |
136,153,180 (GRCm39) |
missense |
probably benign |
0.01 |
R6296:Inava
|
UTSW |
1 |
136,148,809 (GRCm39) |
critical splice donor site |
probably null |
|
R6597:Inava
|
UTSW |
1 |
136,153,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R6983:Inava
|
UTSW |
1 |
136,147,894 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7060:Inava
|
UTSW |
1 |
136,147,935 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7503:Inava
|
UTSW |
1 |
136,143,675 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7527:Inava
|
UTSW |
1 |
136,142,122 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7602:Inava
|
UTSW |
1 |
136,153,135 (GRCm39) |
nonsense |
probably null |
|
R7675:Inava
|
UTSW |
1 |
136,143,741 (GRCm39) |
missense |
probably benign |
0.04 |
R7756:Inava
|
UTSW |
1 |
136,144,171 (GRCm39) |
missense |
probably benign |
0.01 |
R7912:Inava
|
UTSW |
1 |
136,155,279 (GRCm39) |
missense |
probably benign |
0.03 |
R8261:Inava
|
UTSW |
1 |
136,153,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R9402:Inava
|
UTSW |
1 |
136,155,348 (GRCm39) |
missense |
probably benign |
|
X0017:Inava
|
UTSW |
1 |
136,147,920 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Inava
|
UTSW |
1 |
136,147,521 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Predicted Primers |
PCR Primer
(F):5'- AATCCTCAGGTCAGGACTTCTG -3'
(R):5'- AGCACCAGGGCTTCACTATC -3'
Sequencing Primer
(F):5'- GAAAGGTCTCAGCTCTGCATC -3'
(R):5'- ACCAGGGCTTCACTATCGATGATG -3'
|
Posted On |
2015-02-19 |