Incidental Mutation 'R8451:Nufip2'
| ID |
654772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nufip2
|
| Ensembl Gene |
ENSMUSG00000037857 |
| Gene Name |
nuclear FMR1 interacting protein 2 |
| Synonyms |
1110001M19Rik, 9530056D24Rik |
| MMRRC Submission |
067887-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R8451 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77576566-77608792 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77583181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 365
(N365S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100802]
[ENSMUST00000181023]
|
| AlphaFold |
Q5F2E7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100802
AA Change: N365S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098365
Gene: ENSMUSG00000037857
AA Change: N365S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
61 |
N/A |
INTRINSIC |
|
Pfam:NUFIP2
|
90 |
685 |
2.4e-292 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181023
AA Change: N365S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137922
Gene: ENSMUSG00000037857
AA Change: N365S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
61 |
N/A |
INTRINSIC |
|
Pfam:NUFIP2
|
89 |
681 |
7e-293 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Acss3 |
T |
C |
10: 106,885,265 (GRCm39) |
H242R |
probably damaging |
Het |
| Ago2 |
G |
T |
15: 73,002,739 (GRCm39) |
D164E |
probably damaging |
Het |
| Arl2bp |
G |
A |
8: 95,393,507 (GRCm39) |
E6K |
unknown |
Het |
| Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,303,663 (GRCm39) |
E249G |
probably damaging |
Het |
| Cep162 |
G |
A |
9: 87,074,903 (GRCm39) |
Q1360* |
probably null |
Het |
| Cep350 |
T |
C |
1: 155,747,780 (GRCm39) |
I2047V |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,362,687 (GRCm39) |
R347W |
probably damaging |
Het |
| Eif4a3l1 |
T |
A |
6: 136,305,542 (GRCm39) |
M1K |
probably null |
Het |
| Fmo6 |
C |
T |
1: 162,748,174 (GRCm39) |
V297M |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,048,470 (GRCm39) |
V17M |
probably benign |
Het |
| Hs6st1 |
A |
G |
1: 36,108,141 (GRCm39) |
T135A |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Klk1 |
A |
G |
7: 43,878,410 (GRCm39) |
E190G |
probably benign |
Het |
| Map3k21 |
T |
C |
8: 126,671,472 (GRCm39) |
L920P |
probably benign |
Het |
| Mecom |
T |
A |
3: 30,039,519 (GRCm39) |
H180L |
probably benign |
Het |
| Mras |
T |
C |
9: 99,293,548 (GRCm39) |
I31V |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,477,413 (GRCm39) |
D532G |
probably damaging |
Het |
| Or12j2 |
T |
C |
7: 139,916,518 (GRCm39) |
Y248H |
probably damaging |
Het |
| Or4f47 |
A |
T |
2: 111,972,406 (GRCm39) |
M39L |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,660 (GRCm39) |
I228V |
probably benign |
Het |
| Pgbd1 |
A |
T |
13: 21,607,550 (GRCm39) |
S215T |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,885,625 (GRCm39) |
C34R |
probably benign |
Het |
| S100a7l2 |
A |
T |
3: 90,995,671 (GRCm39) |
M77K |
probably benign |
Het |
| Samd4 |
A |
G |
14: 47,338,888 (GRCm39) |
D703G |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,724,088 (GRCm39) |
N623K |
possibly damaging |
Het |
| Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,326,710 (GRCm39) |
D249G |
probably benign |
Het |
| Slc3a1 |
A |
G |
17: 85,335,924 (GRCm39) |
N22S |
possibly damaging |
Het |
| Sugct |
A |
G |
13: 17,427,143 (GRCm39) |
L339P |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,740,907 (GRCm39) |
D1192G |
probably damaging |
Het |
| Tinagl1 |
T |
A |
4: 130,061,376 (GRCm39) |
D289V |
probably damaging |
Het |
| Tnrc6b |
C |
A |
15: 80,807,691 (GRCm39) |
P1548T |
probably damaging |
Het |
| Trmt1l |
A |
G |
1: 151,324,039 (GRCm39) |
K152E |
unknown |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,957 (GRCm39) |
L64* |
probably null |
Het |
| Zcchc2 |
T |
A |
1: 105,958,662 (GRCm39) |
N1044K |
probably damaging |
Het |
| Zfp750 |
T |
C |
11: 121,404,135 (GRCm39) |
I247V |
probably benign |
Het |
|
| Other mutations in Nufip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01361:Nufip2
|
APN |
11 |
77,583,196 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGGAAAACCTGCTATGGG -3'
(R):5'- ACTTCCATCAGTTCCTGCTAAAAC -3'
Sequencing Primer
(F):5'- AAACCTGCTATGGGTGACGTG -3'
(R):5'- CAGGCCCATTAGAAAAACTGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation