Incidental Mutation 'R2435:Ivns1abp'
| ID |
249526 |
| 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 |
040396-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.438)
|
| Stock # |
R2435 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
151220228-151240173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 151239061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 625
(V625A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023918]
[ENSMUST00000064771]
[ENSMUST00000097543]
[ENSMUST00000186745]
[ENSMUST00000190872]
|
| AlphaFold |
Q920Q8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023918
AA Change: V625A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000023918
Gene: ENSMUSG00000023150
AA Change: V625A
| 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: ENSMUST00000064771
|
| SMART Domains |
Protein: ENSMUSP00000067516
Gene: ENSMUSG00000052748
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
186 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
|
PINc
|
395 |
522 |
1.94e-9 |
SMART |
|
low complexity region
|
783 |
793 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097543
AA Change: V583A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000095150
Gene: ENSMUSG00000023150
AA Change: V583A
| 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 benign
Transcript: ENSMUST00000186745
|
| SMART Domains |
Protein: ENSMUSP00000140708
Gene: ENSMUSG00000023150
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
32 |
129 |
1.89e-25 |
SMART |
|
BACK
|
134 |
219 |
7.04e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190872
|
| SMART Domains |
Protein: ENSMUSP00000140332
Gene: ENSMUSG00000023150
| Domain | Start | End | E-Value | Type |
|---|
|
Kelch
|
22 |
68 |
5.3e-18 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| 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 |
|---|
| A1cf |
C |
T |
19: 31,898,294 (GRCm39) |
T226I |
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,369,704 (GRCm39) |
N102D |
probably damaging |
Het |
| Cd34 |
T |
A |
1: 194,621,334 (GRCm39) |
C21S |
probably damaging |
Het |
| Cdh18 |
C |
T |
15: 23,367,094 (GRCm39) |
R267W |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,411,490 (GRCm39) |
N966K |
probably benign |
Het |
| Clec4e |
A |
G |
6: 123,265,855 (GRCm39) |
V44A |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,323,083 (GRCm39) |
N2828I |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,839,929 (GRCm39) |
|
probably null |
Het |
| Fshr |
A |
T |
17: 89,508,024 (GRCm39) |
V6D |
unknown |
Het |
| Gcc2 |
A |
G |
10: 58,130,602 (GRCm39) |
D1398G |
probably damaging |
Het |
| Gpi1 |
G |
A |
7: 33,905,254 (GRCm39) |
A390V |
probably damaging |
Het |
| Gypa |
G |
T |
8: 81,233,397 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Ifna13 |
T |
A |
4: 88,562,366 (GRCm39) |
Q86L |
probably damaging |
Het |
| Itgae |
T |
A |
11: 73,012,763 (GRCm39) |
C698* |
probably null |
Het |
| Kcnh2 |
A |
G |
5: 24,531,345 (GRCm39) |
|
probably null |
Het |
| Kcnj6 |
G |
A |
16: 94,563,538 (GRCm39) |
T320M |
probably damaging |
Het |
| Mblac2 |
T |
C |
13: 81,898,368 (GRCm39) |
I248T |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,371,841 (GRCm39) |
Y2647F |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or4k15 |
T |
C |
14: 50,364,211 (GRCm39) |
M59T |
probably damaging |
Het |
| Or6c217 |
G |
T |
10: 129,738,173 (GRCm39) |
N135K |
possibly damaging |
Het |
| Pard3b |
T |
A |
1: 62,626,897 (GRCm39) |
V1059E |
probably damaging |
Het |
| Pkd1l3 |
A |
C |
8: 110,377,334 (GRCm39) |
I1585L |
probably benign |
Het |
| Pramel31 |
A |
T |
4: 144,089,473 (GRCm39) |
I264F |
possibly damaging |
Het |
| Prrc2b |
A |
T |
2: 32,109,741 (GRCm39) |
S1791C |
probably damaging |
Het |
| Rbmxl2 |
C |
A |
7: 106,809,538 (GRCm39) |
S274R |
probably damaging |
Het |
| Serpini2 |
T |
C |
3: 75,165,475 (GRCm39) |
E168G |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,819,237 (GRCm39) |
S1440P |
probably benign |
Het |
| Snrnp40 |
A |
G |
4: 130,278,344 (GRCm39) |
H283R |
probably damaging |
Het |
| Tcaf2 |
G |
T |
6: 42,607,298 (GRCm39) |
Q219K |
possibly damaging |
Het |
| Tenm3 |
C |
T |
8: 48,740,988 (GRCm39) |
R803H |
probably damaging |
Het |
| Ugt2b5 |
T |
C |
5: 87,287,465 (GRCm39) |
D234G |
probably damaging |
Het |
| Unc13d |
A |
G |
11: 115,959,514 (GRCm39) |
F653S |
probably damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,986,373 (GRCm39) |
I136V |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,656,753 (GRCm39) |
S151P |
possibly damaging |
Het |
| Vmn2r50 |
C |
A |
7: 9,787,026 (GRCm39) |
W27L |
probably benign |
Het |
| Zan |
T |
C |
5: 137,436,836 (GRCm39) |
S2006G |
unknown |
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 |
|
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 |
|
R8357:Ivns1abp
|
UTSW |
1 |
151,229,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGCTTTGATGGTTCTCACGC -3'
(R):5'- TTGCATTCCGTTCCAAACAC -3'
Sequencing Primer
(F):5'- CACGCCATCAGTTGTGTGGAG -3'
(R):5'- GCAATATGCAAAAGCTTTGTGTTGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation