Incidental Mutation 'R8357:Ivns1abp'
| ID |
645804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ivns1abp
|
| Ensembl Gene |
ENSMUSG00000023150 |
| Gene Name |
influenza virus NS1A binding protein |
| Synonyms |
1190004M08Rik, 1700126I16Rik, Nd1-L, HSPC068, NS1-BP, ND1, Nd1-S, NS-1 |
| MMRRC Submission |
067807-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.405)
|
| Stock # |
R8357 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
151220228-151240173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 151229761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 150
(L150M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023918]
[ENSMUST00000097543]
[ENSMUST00000111887]
[ENSMUST00000186745]
|
| AlphaFold |
Q920Q8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023918
AA Change: L150M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023918
Gene: ENSMUSG00000023150
AA Change: L150M
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
32 |
129 |
1.89e-25 |
SMART |
|
BACK
|
134 |
233 |
3.39e-8 |
SMART |
|
low complexity region
|
325 |
338 |
N/A |
INTRINSIC |
|
Kelch
|
369 |
415 |
4.78e-15 |
SMART |
|
Kelch
|
416 |
463 |
2.16e-13 |
SMART |
|
Kelch
|
464 |
512 |
2.15e-8 |
SMART |
|
Kelch
|
513 |
559 |
1.58e-15 |
SMART |
|
Kelch
|
560 |
606 |
1.61e-12 |
SMART |
|
Kelch
|
607 |
641 |
1.85e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097543
AA Change: L150M
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095150
Gene: ENSMUSG00000023150
AA Change: L150M
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
32 |
129 |
1.89e-25 |
SMART |
|
Pfam:BACK
|
134 |
189 |
3.3e-8 |
PFAM |
|
low complexity region
|
283 |
296 |
N/A |
INTRINSIC |
|
Kelch
|
327 |
373 |
4.78e-15 |
SMART |
|
Kelch
|
374 |
421 |
2.16e-13 |
SMART |
|
Kelch
|
422 |
470 |
2.15e-8 |
SMART |
|
Kelch
|
471 |
517 |
1.58e-15 |
SMART |
|
Kelch
|
518 |
564 |
1.61e-12 |
SMART |
|
Kelch
|
565 |
599 |
1.85e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111887
AA Change: L150M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000107518
Gene: ENSMUSG00000023150
AA Change: L150M
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
32 |
129 |
1.89e-25 |
SMART |
|
BACK
|
134 |
219 |
7.04e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186745
AA Change: L150M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140708
Gene: ENSMUSG00000023150
AA Change: L150M
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
32 |
129 |
1.89e-25 |
SMART |
|
BACK
|
134 |
219 |
7.04e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit some early lethality, increased cellular sensitivity to cytochalasin and doxorubicin, and doxorubicin-induced cardiotoxicity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
A |
11: 46,030,939 (GRCm39) |
L813Q |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 80,743,066 (GRCm39) |
N961S |
probably damaging |
Het |
| Arhgap42 |
A |
T |
9: 9,016,221 (GRCm39) |
S403T |
probably benign |
Het |
| Cdkl1 |
T |
C |
12: 69,794,112 (GRCm39) |
T342A |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,096,985 (GRCm39) |
E1497G |
probably damaging |
Het |
| Cldn11 |
T |
C |
3: 31,217,342 (GRCm39) |
V170A |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,196,013 (GRCm39) |
F291I |
probably damaging |
Het |
| Cpsf2 |
T |
A |
12: 101,968,929 (GRCm39) |
S722T |
probably damaging |
Het |
| Creld1 |
T |
C |
6: 113,468,699 (GRCm39) |
|
probably null |
Het |
| Dgki |
T |
A |
6: 36,827,891 (GRCm39) |
E1002V |
possibly damaging |
Het |
| Disp3 |
T |
A |
4: 148,345,572 (GRCm39) |
I423F |
possibly damaging |
Het |
| Dysf |
T |
C |
6: 84,165,227 (GRCm39) |
V1601A |
probably benign |
Het |
| E4f1 |
G |
A |
17: 24,665,501 (GRCm39) |
A347V |
probably benign |
Het |
| Ehmt2 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
17: 35,124,137 (GRCm39) |
|
probably benign |
Het |
| Epb41l1 |
G |
A |
2: 156,367,171 (GRCm39) |
R680Q |
probably benign |
Het |
| Fcrl5 |
T |
G |
3: 87,351,567 (GRCm39) |
S272A |
probably damaging |
Het |
| Gbp7 |
A |
T |
3: 142,252,133 (GRCm39) |
D572V |
probably benign |
Het |
| Gm21903 |
A |
T |
17: 39,354,211 (GRCm39) |
F8I |
unknown |
Het |
| Grin2b |
A |
G |
6: 135,709,197 (GRCm39) |
S1450P |
probably benign |
Het |
| Icos |
C |
A |
1: 61,033,015 (GRCm39) |
S71R |
probably damaging |
Het |
| Ighv1-13 |
T |
A |
12: 114,594,452 (GRCm39) |
N51K |
unknown |
Het |
| Ighv1-37 |
C |
T |
12: 114,860,245 (GRCm39) |
|
probably benign |
Het |
| Il36g |
A |
G |
2: 24,078,661 (GRCm39) |
Y87C |
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,843,194 (GRCm39) |
N440D |
possibly damaging |
Het |
| Kif16b |
A |
G |
2: 142,553,828 (GRCm39) |
I990T |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,834,317 (GRCm39) |
|
probably null |
Het |
| Lca5l |
T |
G |
16: 95,960,908 (GRCm39) |
K523T |
possibly damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,085 (GRCm39) |
F1076L |
probably benign |
Het |
| Nek11 |
A |
T |
9: 105,225,191 (GRCm39) |
I107N |
probably damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,289,435 (GRCm39) |
H359R |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
| Or10q12 |
A |
T |
19: 13,745,721 (GRCm39) |
N5I |
probably benign |
Het |
| Or8g36 |
A |
C |
9: 39,422,442 (GRCm39) |
N191K |
probably benign |
Het |
| Rnf10 |
C |
A |
5: 115,410,320 (GRCm39) |
K51N |
possibly damaging |
Het |
| Scap |
G |
A |
9: 110,210,354 (GRCm39) |
G921D |
probably benign |
Het |
| Tk2 |
A |
T |
8: 104,963,450 (GRCm39) |
S140T |
probably damaging |
Het |
| Tmem106b |
A |
G |
6: 13,084,243 (GRCm39) |
Y249C |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,923,352 (GRCm39) |
S276R |
probably damaging |
Het |
| Ugt1a7c |
T |
C |
1: 88,023,078 (GRCm39) |
V79A |
probably benign |
Het |
| Zfp410 |
T |
C |
12: 84,374,086 (GRCm39) |
V141A |
possibly damaging |
Het |
|
| Other mutations in Ivns1abp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00225:Ivns1abp
|
APN |
1 |
151,226,863 (GRCm39) |
splice site |
probably null |
|
|
IGL01616:Ivns1abp
|
APN |
1 |
151,237,294 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02061:Ivns1abp
|
APN |
1 |
151,227,324 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02630:Ivns1abp
|
APN |
1 |
151,235,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8562:Ivns1abp
|
UTSW |
1 |
151,230,446 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT1430001:Ivns1abp
|
UTSW |
1 |
151,237,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0107:Ivns1abp
|
UTSW |
1 |
151,237,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0609:Ivns1abp
|
UTSW |
1 |
151,235,896 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1104:Ivns1abp
|
UTSW |
1 |
151,235,860 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1463:Ivns1abp
|
UTSW |
1 |
151,237,291 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1512:Ivns1abp
|
UTSW |
1 |
151,236,688 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1512:Ivns1abp
|
UTSW |
1 |
151,236,687 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1521:Ivns1abp
|
UTSW |
1 |
151,227,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1550:Ivns1abp
|
UTSW |
1 |
151,237,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2047:Ivns1abp
|
UTSW |
1 |
151,227,382 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2435:Ivns1abp
|
UTSW |
1 |
151,239,061 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4471:Ivns1abp
|
UTSW |
1 |
151,236,990 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5011:Ivns1abp
|
UTSW |
1 |
151,238,953 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5667:Ivns1abp
|
UTSW |
1 |
151,229,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5671:Ivns1abp
|
UTSW |
1 |
151,229,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6505:Ivns1abp
|
UTSW |
1 |
151,236,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8457:Ivns1abp
|
UTSW |
1 |
151,229,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ivns1abp
|
UTSW |
1 |
151,226,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCACCATTTGTCCATGTGC -3'
(R):5'- TACTGCAACCCTGATTCACCTG -3'
Sequencing Primer
(F):5'- CATGTGCTGTCCCCATTGTGTAG -3'
(R):5'- TGATTCACCTGGTAAAGACTGCC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation