Incidental Mutation 'R4489:Nufip2'
| ID |
330648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nufip2
|
| Ensembl Gene |
ENSMUSG00000037857 |
| Gene Name |
nuclear FMR1 interacting protein 2 |
| Synonyms |
1110001M19Rik, 9530056D24Rik |
| MMRRC Submission |
041745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R4489 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77576566-77608792 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to G
at 77577055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 1
(M1R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100802]
[ENSMUST00000181023]
|
| AlphaFold |
Q5F2E7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000100802
AA Change: M1R
|
| SMART Domains |
Protein: ENSMUSP00000098365
Gene: ENSMUSG00000037857
AA Change: M1R
| 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 |
probably null
Transcript: ENSMUST00000181023
AA Change: M1R
|
| SMART Domains |
Protein: ENSMUSP00000137922
Gene: ENSMUSG00000037857
AA Change: M1R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
61 |
N/A |
INTRINSIC |
|
Pfam:NUFIP2
|
89 |
681 |
7e-293 |
PFAM |
|
| Meta Mutation Damage Score |
0.9572 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
94% (50/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
| Ank3 |
C |
T |
10: 69,734,086 (GRCm39) |
A754V |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,165,479 (GRCm39) |
N582S |
probably benign |
Het |
| Arnt2 |
T |
A |
7: 83,924,553 (GRCm39) |
T425S |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,058,082 (GRCm39) |
Q3224L |
probably null |
Het |
| Cand2 |
A |
G |
6: 115,766,427 (GRCm39) |
D344G |
probably damaging |
Het |
| Clta |
T |
G |
4: 44,032,417 (GRCm39) |
F198V |
probably damaging |
Het |
| Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
| Csmd2 |
G |
A |
4: 128,275,738 (GRCm39) |
V826M |
possibly damaging |
Het |
| Dnah11 |
C |
T |
12: 117,880,631 (GRCm39) |
V3830I |
probably benign |
Het |
| Fhl4 |
T |
C |
10: 84,934,319 (GRCm39) |
D154G |
possibly damaging |
Het |
| Gbp4 |
T |
A |
5: 105,269,773 (GRCm39) |
T352S |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,368,548 (GRCm39) |
D1076G |
probably damaging |
Het |
| Gm21370 |
T |
A |
13: 120,488,378 (GRCm39) |
Y57F |
probably benign |
Het |
| Gm6489 |
A |
G |
1: 31,326,320 (GRCm39) |
|
noncoding transcript |
Het |
| Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
| Hectd4 |
T |
G |
5: 121,424,320 (GRCm39) |
I660R |
possibly damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Htr1b |
A |
T |
9: 81,513,592 (GRCm39) |
D338E |
probably benign |
Het |
| Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,551,501 (GRCm39) |
|
probably benign |
Het |
| Lzts1 |
T |
A |
8: 69,588,347 (GRCm39) |
K536N |
possibly damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,063,928 (GRCm39) |
N49K |
probably benign |
Het |
| Mzt1 |
T |
C |
14: 99,273,926 (GRCm39) |
*42W |
probably null |
Het |
| Nkx3-2 |
T |
G |
5: 41,919,304 (GRCm39) |
Q228P |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,922,417 (GRCm39) |
T5921M |
possibly damaging |
Het |
| Or4c116 |
T |
C |
2: 88,941,916 (GRCm39) |
|
probably null |
Het |
| Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
| Pcdha11 |
C |
A |
18: 37,139,969 (GRCm39) |
Q533K |
possibly damaging |
Het |
| Pgm5 |
T |
C |
19: 24,793,809 (GRCm39) |
E285G |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Potefam1 |
A |
G |
2: 111,051,047 (GRCm39) |
Y250H |
probably benign |
Het |
| Rgs21 |
T |
C |
1: 144,395,613 (GRCm39) |
T92A |
possibly damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,703,282 (GRCm39) |
Y123F |
probably benign |
Het |
| Rnf13 |
A |
C |
3: 57,728,010 (GRCm39) |
K230T |
probably damaging |
Het |
| Sgf29 |
T |
C |
7: 126,263,110 (GRCm39) |
S29P |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Specc1 |
T |
G |
11: 62,042,653 (GRCm39) |
|
probably null |
Het |
| Tg |
A |
T |
15: 66,579,791 (GRCm39) |
Q1532L |
probably damaging |
Het |
| Timm44 |
A |
C |
8: 4,316,654 (GRCm39) |
S297A |
possibly damaging |
Het |
| Txndc9 |
G |
T |
1: 38,034,871 (GRCm39) |
S11* |
probably null |
Het |
| Uggt1 |
C |
T |
1: 36,185,749 (GRCm39) |
W1478* |
probably null |
Het |
| Washc3 |
T |
C |
10: 88,051,893 (GRCm39) |
V87A |
probably benign |
Het |
| Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATGCTGACGTTGAAGGCCC -3'
(R):5'- GCTCATGTTTCAGCGGCTTG -3'
Sequencing Primer
(F):5'- GCCCTGTGAGGTTGCATAG -3'
(R):5'- GCTCCATGCTGCAGGTATTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation