Incidental Mutation 'IGL01361:Nufip2'
| ID |
75744 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nufip2
|
| Ensembl Gene |
ENSMUSG00000037857 |
| Gene Name |
nuclear FMR1 interacting protein 2 |
| Synonyms |
1110001M19Rik, 9530056D24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
IGL01361
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
77576566-77608792 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77583196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 370
(V370E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100802]
[ENSMUST00000181023]
|
| AlphaFold |
Q5F2E7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100802
AA Change: V370E
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098365
Gene: ENSMUSG00000037857
AA Change: V370E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
61 |
N/A |
INTRINSIC |
|
Pfam:NUFIP2
|
90 |
685 |
2.4e-292 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126942
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155238
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000181023
AA Change: V370E
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137922
Gene: ENSMUSG00000037857
AA Change: V370E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
61 |
N/A |
INTRINSIC |
|
Pfam:NUFIP2
|
89 |
681 |
7e-293 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd36 |
T |
A |
11: 5,546,706 (GRCm39) |
|
probably benign |
Het |
| C1qtnf3 |
G |
A |
15: 10,960,768 (GRCm39) |
G157D |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,569,107 (GRCm39) |
E940G |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,229,149 (GRCm39) |
L561P |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,655,718 (GRCm39) |
Y27C |
probably damaging |
Het |
| Catsper1 |
G |
T |
19: 5,389,507 (GRCm39) |
S474I |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,234,304 (GRCm39) |
D897G |
probably benign |
Het |
| Crtc1 |
A |
G |
8: 70,840,253 (GRCm39) |
L540P |
probably damaging |
Het |
| Fdps |
A |
G |
3: 89,001,749 (GRCm39) |
|
probably benign |
Het |
| Gprc6a |
A |
G |
10: 51,491,526 (GRCm39) |
I741T |
probably damaging |
Het |
| Hdac7 |
A |
C |
15: 97,709,323 (GRCm39) |
M47R |
possibly damaging |
Het |
| Kalrn |
T |
C |
16: 33,996,092 (GRCm39) |
|
probably benign |
Het |
| Kat14 |
C |
A |
2: 144,248,540 (GRCm39) |
|
probably null |
Het |
| Kcnu1 |
T |
C |
8: 26,376,796 (GRCm39) |
V390A |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,375,977 (GRCm39) |
Y578N |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,000,763 (GRCm39) |
|
probably benign |
Het |
| Mpc2 |
G |
T |
1: 165,307,092 (GRCm39) |
A98S |
probably benign |
Het |
| Nek10 |
T |
C |
14: 14,850,957 (GRCm38) |
I334T |
probably damaging |
Het |
| Nup160 |
C |
A |
2: 90,514,356 (GRCm39) |
Y101* |
probably null |
Het |
| Obscn |
T |
A |
11: 58,919,715 (GRCm39) |
Y6174F |
probably damaging |
Het |
| Omp |
A |
T |
7: 97,794,489 (GRCm39) |
I46N |
probably benign |
Het |
| Pcbp4 |
A |
T |
9: 106,340,448 (GRCm39) |
|
probably null |
Het |
| Pctp |
A |
G |
11: 89,879,552 (GRCm39) |
V103A |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,309,814 (GRCm39) |
Y590H |
probably damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,343,508 (GRCm39) |
|
probably null |
Het |
| Reln |
G |
A |
5: 22,124,019 (GRCm39) |
T2829M |
probably benign |
Het |
| Sh3yl1 |
T |
A |
12: 30,989,563 (GRCm39) |
|
probably benign |
Het |
| Sipa1l3 |
A |
T |
7: 29,048,112 (GRCm39) |
Y210N |
probably damaging |
Het |
| Slc33a1 |
C |
A |
3: 63,850,833 (GRCm39) |
C497F |
probably damaging |
Het |
| Srp9 |
G |
A |
1: 181,958,902 (GRCm39) |
C25Y |
probably damaging |
Het |
| Traf4 |
C |
A |
11: 78,056,226 (GRCm39) |
R14L |
possibly damaging |
Het |
| Tut7 |
A |
T |
13: 59,933,614 (GRCm39) |
I894K |
probably damaging |
Het |
| Usf3 |
C |
A |
16: 44,033,000 (GRCm39) |
|
probably null |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,720,371 (GRCm39) |
A405T |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,412,604 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nufip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0646:Nufip2
|
UTSW |
11 |
77,577,279 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0667:Nufip2
|
UTSW |
11 |
77,582,839 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1544:Nufip2
|
UTSW |
11 |
77,582,733 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1546:Nufip2
|
UTSW |
11 |
77,582,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1629:Nufip2
|
UTSW |
11 |
77,583,834 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1719:Nufip2
|
UTSW |
11 |
77,583,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:Nufip2
|
UTSW |
11 |
77,583,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3855:Nufip2
|
UTSW |
11 |
77,583,715 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4489:Nufip2
|
UTSW |
11 |
77,577,055 (GRCm39) |
start codon destroyed |
probably null |
|
|
R4584:Nufip2
|
UTSW |
11 |
77,632,554 (GRCm39) |
missense |
unknown |
|
|
R4585:Nufip2
|
UTSW |
11 |
77,632,554 (GRCm39) |
missense |
unknown |
|
|
R4586:Nufip2
|
UTSW |
11 |
77,632,554 (GRCm39) |
missense |
unknown |
|
|
R4779:Nufip2
|
UTSW |
11 |
77,577,154 (GRCm39) |
missense |
unknown |
|
|
R5111:Nufip2
|
UTSW |
11 |
77,582,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5354:Nufip2
|
UTSW |
11 |
77,577,103 (GRCm39) |
missense |
unknown |
|
|
R6051:Nufip2
|
UTSW |
11 |
77,582,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6324:Nufip2
|
UTSW |
11 |
77,582,487 (GRCm39) |
missense |
probably benign |
|
|
R6505:Nufip2
|
UTSW |
11 |
77,582,439 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6941:Nufip2
|
UTSW |
11 |
77,577,122 (GRCm39) |
small deletion |
probably benign |
|
|
R7237:Nufip2
|
UTSW |
11 |
77,583,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8351:Nufip2
|
UTSW |
11 |
77,583,181 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8355:Nufip2
|
UTSW |
11 |
77,583,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8451:Nufip2
|
UTSW |
11 |
77,583,181 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8455:Nufip2
|
UTSW |
11 |
77,583,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8547:Nufip2
|
UTSW |
11 |
77,583,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Nufip2
|
UTSW |
11 |
77,584,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8912:Nufip2
|
UTSW |
11 |
77,632,554 (GRCm39) |
missense |
unknown |
|
|
R9244:Nufip2
|
UTSW |
11 |
77,583,475 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Nufip2
|
UTSW |
11 |
77,632,617 (GRCm39) |
makesense |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation