Incidental Mutation 'R4348:Inava'
| ID |
328385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inava
|
| Ensembl Gene |
ENSMUSG00000041605 |
| Gene Name |
innate immunity activator |
| Synonyms |
5730559C18Rik |
| MMRRC Submission |
041103-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4348 (G1)
|
| Quality Score |
216 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
136141269-136162002 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 136153946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 180
(V180I)
|
| 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 damaging
Transcript: ENSMUST00000120339
AA Change: V180I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113785
Gene: ENSMUSG00000041605
AA Change: V180I
| 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 |
possibly damaging
Transcript: ENSMUST00000144464
AA Change: V81I
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115554
Gene: ENSMUSG00000041605
AA Change: V81I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3338
|
1 |
132 |
5.7e-58 |
PFAM |
|
low complexity region
|
174 |
194 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150163
AA Change: V81I
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118074
Gene: ENSMUSG00000041605
AA Change: V81I
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aass |
A |
G |
6: 23,113,738 (GRCm39) |
F235L |
probably benign |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Adcy6 |
A |
T |
15: 98,502,041 (GRCm39) |
V191E |
probably benign |
Het |
| Cngb3 |
G |
A |
4: 19,396,688 (GRCm39) |
R347Q |
probably damaging |
Het |
| Cntnap4 |
T |
A |
8: 113,480,554 (GRCm39) |
C334S |
probably damaging |
Het |
| D7Ertd443e |
ACCTAGGAGGTCCT |
ACCT |
7: 133,950,682 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
T |
A |
14: 26,536,498 (GRCm39) |
M2138K |
possibly damaging |
Het |
| Ebf2 |
T |
C |
14: 67,476,871 (GRCm39) |
I138T |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,012,736 (GRCm39) |
S784P |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,587,726 (GRCm39) |
M129V |
probably benign |
Het |
| Enah |
A |
T |
1: 181,749,985 (GRCm39) |
S266T |
possibly damaging |
Het |
| Fhip1b |
A |
G |
7: 105,034,556 (GRCm39) |
V422A |
probably damaging |
Het |
| Garem2 |
G |
A |
5: 30,310,366 (GRCm39) |
R26H |
possibly damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Gpatch11 |
T |
C |
17: 79,148,446 (GRCm39) |
L128P |
probably damaging |
Het |
| Kcns3 |
T |
C |
12: 11,141,382 (GRCm39) |
N439S |
possibly damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Mbd1 |
G |
T |
18: 74,407,487 (GRCm39) |
R199L |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,146,339 (GRCm39) |
M183K |
probably benign |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Nckap1l |
A |
G |
15: 103,395,246 (GRCm39) |
T909A |
probably damaging |
Het |
| Ntrk2 |
A |
G |
13: 59,026,073 (GRCm39) |
K464E |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,450,649 (GRCm39) |
T127I |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,685,060 (GRCm39) |
I509T |
probably damaging |
Het |
| Pcsk7 |
G |
A |
9: 45,830,646 (GRCm39) |
A475T |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Prdm16 |
A |
G |
4: 154,561,124 (GRCm39) |
V136A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,717,592 (GRCm39) |
S1879R |
probably damaging |
Het |
| Rasgrp3 |
A |
T |
17: 75,818,975 (GRCm39) |
Q388L |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rnf38 |
A |
T |
4: 44,149,100 (GRCm39) |
N82K |
possibly damaging |
Het |
| Smco3 |
T |
A |
6: 136,808,692 (GRCm39) |
T61S |
possibly damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,138,245 (GRCm39) |
V364A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,595,109 (GRCm39) |
I20347T |
possibly damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,829,466 (GRCm39) |
F477Y |
possibly damaging |
Het |
| Wee1 |
A |
G |
7: 109,730,165 (GRCm39) |
H423R |
probably 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 |
|
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'- TTTAATCCTCTGCCACAGGG -3'
(R):5'- ATCAGGTCCATGCAGTGTGG -3'
Sequencing Primer
(F):5'- TCTGGACCACTCCTGAGAAG -3'
(R):5'- CCATGCAGTGTGGAGCTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation