Incidental Mutation 'R5343:Inava'
| ID |
422422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inava
|
| Ensembl Gene |
ENSMUSG00000041605 |
| Gene Name |
innate immunity activator |
| Synonyms |
5730559C18Rik |
| MMRRC Submission |
042922-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5343 (G1)
|
| Quality Score |
147 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
136141269-136162002 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 136153180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 237
(H237Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120339]
[ENSMUST00000144464]
[ENSMUST00000150163]
[ENSMUST00000153910]
[ENSMUST00000195177]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120339
AA Change: H237Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000113785
Gene: ENSMUSG00000041605
AA Change: H237Q
| 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: ENSMUST00000144464
AA Change: H138Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000115554
Gene: ENSMUSG00000041605
AA Change: H138Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3338
|
1 |
132 |
5.7e-58 |
PFAM |
|
low complexity region
|
174 |
194 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150163
AA Change: H138Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000118074
Gene: ENSMUSG00000041605
AA Change: H138Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3338
|
1 |
132 |
6.8e-58 |
PFAM |
|
low complexity region
|
174 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153910
|
| SMART Domains |
Protein: ENSMUSP00000120263
Gene: ENSMUSG00000041605
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
65 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194374
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195177
|
| SMART Domains |
Protein: ENSMUSP00000141506
Gene: ENSMUSG00000041605
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3338
|
1 |
78 |
5.2e-31 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310039H08Rik |
C |
A |
17: 47,083,962 (GRCm39) |
A75E |
probably damaging |
Het |
| Adck5 |
G |
A |
15: 76,479,780 (GRCm39) |
R560H |
probably damaging |
Het |
| Ahctf1 |
A |
T |
1: 179,598,199 (GRCm39) |
Y964* |
probably null |
Het |
| Alg8 |
T |
C |
7: 97,036,126 (GRCm39) |
I339T |
possibly damaging |
Het |
| Alox5 |
T |
C |
6: 116,390,468 (GRCm39) |
D503G |
possibly damaging |
Het |
| Camk4 |
A |
G |
18: 33,211,122 (GRCm39) |
T76A |
probably damaging |
Het |
| Cdh3 |
T |
C |
8: 107,279,568 (GRCm39) |
V728A |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,097,326 (GRCm39) |
N1326K |
probably damaging |
Het |
| Cnn1 |
A |
T |
9: 22,016,706 (GRCm39) |
Y48F |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,189,599 (GRCm39) |
E16D |
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,553,549 (GRCm39) |
L56S |
probably damaging |
Het |
| F13b |
T |
C |
1: 139,438,282 (GRCm39) |
V299A |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,212,051 (GRCm39) |
S1279P |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,421,156 (GRCm39) |
M981V |
probably benign |
Het |
| Lpl |
T |
A |
8: 69,348,389 (GRCm39) |
V206E |
probably damaging |
Het |
| Mre11a |
A |
G |
9: 14,723,130 (GRCm39) |
D368G |
probably damaging |
Het |
| Mreg |
G |
A |
1: 72,200,117 (GRCm39) |
P191L |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,486,964 (GRCm39) |
A134S |
probably damaging |
Het |
| Mxd4 |
T |
C |
5: 34,335,074 (GRCm39) |
S114G |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,817,696 (GRCm39) |
Q522R |
probably benign |
Het |
| Ncapd3 |
GGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTG |
9: 26,999,349 (GRCm39) |
|
probably benign |
Het |
| Ninl |
T |
C |
2: 150,813,110 (GRCm39) |
E182G |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,362,257 (GRCm39) |
N1456S |
probably benign |
Het |
| Npr1 |
G |
T |
3: 90,365,515 (GRCm39) |
N648K |
possibly damaging |
Het |
| Oas3 |
A |
G |
5: 120,894,303 (GRCm39) |
S1016P |
possibly damaging |
Het |
| Or10a3 |
C |
T |
7: 108,480,205 (GRCm39) |
V203M |
possibly damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,324 (GRCm39) |
N210S |
probably damaging |
Het |
| Palld |
A |
G |
8: 62,002,849 (GRCm39) |
|
probably benign |
Het |
| Patj |
T |
G |
4: 98,564,430 (GRCm39) |
I1021S |
probably damaging |
Het |
| Pfpl |
T |
A |
19: 12,406,052 (GRCm39) |
L101Q |
probably damaging |
Het |
| Pilrb2 |
T |
A |
5: 137,869,228 (GRCm39) |
E124V |
possibly damaging |
Het |
| Pomk |
A |
G |
8: 26,473,044 (GRCm39) |
F303S |
probably benign |
Het |
| Rap1gap2 |
A |
T |
11: 74,332,611 (GRCm39) |
S65T |
probably damaging |
Het |
| Sema3a |
G |
A |
5: 13,523,373 (GRCm39) |
C114Y |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Spry4 |
A |
T |
18: 38,723,028 (GRCm39) |
V245E |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,295,427 (GRCm39) |
Y271C |
probably damaging |
Het |
| Tas2r136 |
A |
G |
6: 132,755,043 (GRCm39) |
V28A |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,960,330 (GRCm39) |
V998A |
probably benign |
Het |
| Trim37 |
A |
G |
11: 87,028,429 (GRCm39) |
E46G |
probably damaging |
Het |
| Ubiad1 |
A |
G |
4: 148,520,892 (GRCm39) |
V244A |
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 |
|
R3618:Inava
|
UTSW |
1 |
136,142,110 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
|
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'- GCGCTATCGAAAGCATAACG -3'
(R):5'- TCTGCTCACAACTGGGTCAG -3'
Sequencing Primer
(F):5'- ATAACGCAGGGCCACACTGG -3'
(R):5'- CACAACTGGGTCAGAGTCTCTTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation