Incidental Mutation 'R2215:Eif4enif1'
ID |
241100 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif4enif1
|
Ensembl Gene |
ENSMUSG00000020454 |
Gene Name |
eukaryotic translation initiation factor 4E nuclear import factor 1 |
Synonyms |
D11Ertd166e, 2610509L04Rik, Clast4, A930019J01Rik |
MMRRC Submission |
040217-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.494)
|
Stock # |
R2215 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
3152392-3194588 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3177476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 185
(S185G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112550
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020734]
[ENSMUST00000110048]
[ENSMUST00000110049]
[ENSMUST00000120721]
[ENSMUST00000135223]
[ENSMUST00000179770]
|
AlphaFold |
Q9EST3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020734
AA Change: S348G
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000020734 Gene: ENSMUSG00000020454 AA Change: S348G
Domain | Start | End | E-Value | Type |
Pfam:EIF4E-T
|
29 |
688 |
1.2e-189 |
PFAM |
low complexity region
|
835 |
851 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110048
AA Change: S348G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105675 Gene: ENSMUSG00000020454 AA Change: S348G
Domain | Start | End | E-Value | Type |
Pfam:EIF4E-T
|
29 |
688 |
1.2e-189 |
PFAM |
low complexity region
|
835 |
851 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110049
AA Change: S348G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105676 Gene: ENSMUSG00000020454 AA Change: S348G
Domain | Start | End | E-Value | Type |
Pfam:EIF4E-T
|
29 |
712 |
2.7e-184 |
PFAM |
low complexity region
|
859 |
875 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120721
AA Change: S185G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112550 Gene: ENSMUSG00000020454 AA Change: S185G
Domain | Start | End | E-Value | Type |
Pfam:EIF4E-T
|
29 |
99 |
3.6e-29 |
PFAM |
Pfam:EIF4E-T
|
98 |
327 |
5.1e-41 |
PFAM |
Pfam:EIF4E-T
|
282 |
537 |
7.7e-30 |
PFAM |
low complexity region
|
684 |
700 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132425
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135223
|
SMART Domains |
Protein: ENSMUSP00000122912 Gene: ENSMUSG00000020454
Domain | Start | End | E-Value | Type |
Pfam:EIF4E-T
|
1 |
239 |
1.5e-16 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179770
AA Change: S348G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000136768 Gene: ENSMUSG00000020454 AA Change: S348G
Domain | Start | End | E-Value | Type |
Pfam:EIF4E-T
|
29 |
710 |
4.3e-160 |
PFAM |
low complexity region
|
859 |
875 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143770
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159304
|
SMART Domains |
Protein: ENSMUSP00000125536 Gene: ENSMUSG00000020457
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
13 |
58 |
5.7e-14 |
PFAM |
|
Meta Mutation Damage Score |
0.1924 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (68/68) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,254,619 (GRCm39) |
S1899T |
probably damaging |
Het |
Accs |
G |
T |
2: 93,672,243 (GRCm39) |
N208K |
probably benign |
Het |
Actn4 |
C |
A |
7: 28,618,178 (GRCm39) |
V22L |
possibly damaging |
Het |
Adam21 |
A |
G |
12: 81,607,064 (GRCm39) |
S233P |
probably damaging |
Het |
Adrm1b |
G |
A |
3: 92,335,730 (GRCm39) |
A324V |
probably damaging |
Het |
Agmat |
C |
T |
4: 141,476,899 (GRCm39) |
R102C |
probably benign |
Het |
Akap8l |
T |
C |
17: 32,540,569 (GRCm39) |
E608G |
possibly damaging |
Het |
Arap2 |
T |
C |
5: 62,834,519 (GRCm39) |
I788V |
probably damaging |
Het |
Arhgef12 |
G |
T |
9: 42,917,167 (GRCm39) |
H391N |
probably damaging |
Het |
Arhgef28 |
G |
T |
13: 98,187,529 (GRCm39) |
H255Q |
possibly damaging |
Het |
Baz1a |
G |
A |
12: 55,022,154 (GRCm39) |
R43* |
probably null |
Het |
Bcas3 |
T |
C |
11: 85,692,769 (GRCm39) |
S862P |
probably damaging |
Het |
Blm |
A |
T |
7: 80,149,595 (GRCm39) |
H671Q |
possibly damaging |
Het |
Bmp8a |
C |
T |
4: 123,218,911 (GRCm39) |
V166I |
probably benign |
Het |
Cep120 |
G |
T |
18: 53,860,707 (GRCm39) |
P241Q |
probably damaging |
Het |
Col14a1 |
G |
A |
15: 55,244,238 (GRCm39) |
G437E |
unknown |
Het |
Cyp2a5 |
T |
C |
7: 26,539,900 (GRCm39) |
L3S |
probably damaging |
Het |
D16Ertd472e |
T |
C |
16: 78,342,155 (GRCm39) |
T242A |
probably benign |
Het |
Dach1 |
A |
G |
14: 98,405,917 (GRCm39) |
|
probably null |
Het |
Ddx20 |
A |
T |
3: 105,587,656 (GRCm39) |
|
probably benign |
Het |
Ep400 |
A |
T |
5: 110,841,421 (GRCm39) |
|
probably benign |
Het |
Fam117b |
T |
A |
1: 60,008,219 (GRCm39) |
I351K |
probably damaging |
Het |
Fbxo31 |
T |
C |
8: 122,293,050 (GRCm39) |
I112V |
probably benign |
Het |
Galntl5 |
A |
T |
5: 25,403,476 (GRCm39) |
N149I |
probably damaging |
Het |
Gja8 |
A |
T |
3: 96,827,218 (GRCm39) |
F148Y |
probably damaging |
Het |
Gpatch1 |
A |
T |
7: 34,993,252 (GRCm39) |
L531Q |
possibly damaging |
Het |
Gprin1 |
G |
A |
13: 54,888,046 (GRCm39) |
T76M |
probably damaging |
Het |
Htr4 |
T |
A |
18: 62,546,787 (GRCm39) |
C113* |
probably null |
Het |
Igf1r |
T |
A |
7: 67,814,982 (GRCm39) |
D294E |
probably benign |
Het |
Kdm6b |
G |
A |
11: 69,295,870 (GRCm39) |
P799L |
unknown |
Het |
Lat |
A |
T |
7: 125,967,137 (GRCm39) |
V139E |
probably damaging |
Het |
Lrrc34 |
G |
A |
3: 30,697,678 (GRCm39) |
R51C |
probably benign |
Het |
Map3k1 |
A |
G |
13: 111,892,322 (GRCm39) |
S978P |
probably benign |
Het |
Masp1 |
T |
A |
16: 23,271,271 (GRCm39) |
D659V |
possibly damaging |
Het |
Mcam |
A |
T |
9: 44,051,250 (GRCm39) |
R415* |
probably null |
Het |
Mtmr10 |
A |
G |
7: 63,987,403 (GRCm39) |
T648A |
probably benign |
Het |
Myh2 |
T |
C |
11: 67,082,563 (GRCm39) |
W1378R |
probably benign |
Het |
Nipsnap2 |
A |
G |
5: 129,816,649 (GRCm39) |
E64G |
probably damaging |
Het |
Or4a68 |
T |
C |
2: 89,270,381 (GRCm39) |
M81V |
probably benign |
Het |
Or52n4b |
T |
C |
7: 108,144,095 (GRCm39) |
L119P |
probably damaging |
Het |
Or6c3 |
A |
T |
10: 129,309,289 (GRCm39) |
I243F |
probably damaging |
Het |
Or9s27 |
G |
A |
1: 92,516,708 (GRCm39) |
V219I |
probably benign |
Het |
Pcdhb8 |
T |
G |
18: 37,490,127 (GRCm39) |
S602A |
probably damaging |
Het |
Peg10 |
A |
T |
6: 4,756,918 (GRCm39) |
|
probably benign |
Het |
Pld1 |
A |
T |
3: 28,132,542 (GRCm39) |
I577F |
probably benign |
Het |
Plekhm1 |
A |
T |
11: 103,267,811 (GRCm39) |
I720N |
probably damaging |
Het |
Ppp2r1a |
A |
G |
17: 21,182,005 (GRCm39) |
|
probably null |
Het |
Retreg3 |
G |
T |
11: 101,010,459 (GRCm39) |
Y49* |
probably null |
Het |
Rrp36 |
T |
C |
17: 46,983,746 (GRCm39) |
E22G |
possibly damaging |
Het |
Sec14l2 |
C |
A |
11: 4,059,169 (GRCm39) |
A167S |
probably damaging |
Het |
Sema5b |
A |
G |
16: 35,480,585 (GRCm39) |
T751A |
probably damaging |
Het |
Smarcc1 |
C |
A |
9: 110,066,907 (GRCm39) |
|
probably benign |
Het |
Smox |
T |
C |
2: 131,362,190 (GRCm39) |
|
probably null |
Het |
Spats2l |
A |
T |
1: 57,985,575 (GRCm39) |
T543S |
possibly damaging |
Het |
Sppl2a |
G |
T |
2: 126,769,754 (GRCm39) |
T34K |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,138,602 (GRCm39) |
|
probably benign |
Het |
Tet2 |
T |
A |
3: 133,192,362 (GRCm39) |
I691F |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,923,114 (GRCm39) |
Y2566H |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,570,853 (GRCm39) |
E26680G |
probably damaging |
Het |
Txlna |
T |
C |
4: 129,533,111 (GRCm39) |
E139G |
possibly damaging |
Het |
Ubap2 |
T |
C |
4: 41,196,483 (GRCm39) |
|
probably null |
Het |
Ubr3 |
A |
T |
2: 69,809,661 (GRCm39) |
|
probably null |
Het |
Usp37 |
A |
C |
1: 74,483,685 (GRCm39) |
F844V |
probably damaging |
Het |
Usp6nl |
A |
G |
2: 6,429,150 (GRCm39) |
D204G |
probably damaging |
Het |
Vmn1r230 |
T |
C |
17: 21,067,684 (GRCm39) |
I291T |
probably benign |
Het |
Zfp229 |
T |
G |
17: 21,965,258 (GRCm39) |
V496G |
possibly damaging |
Het |
|
Other mutations in Eif4enif1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01139:Eif4enif1
|
APN |
11 |
3,171,143 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02237:Eif4enif1
|
APN |
11 |
3,177,876 (GRCm39) |
nonsense |
probably null |
|
IGL02372:Eif4enif1
|
APN |
11 |
3,179,986 (GRCm39) |
missense |
probably benign |
0.09 |
PIT4283001:Eif4enif1
|
UTSW |
11 |
3,184,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R0079:Eif4enif1
|
UTSW |
11 |
3,192,676 (GRCm39) |
nonsense |
probably null |
|
R1177:Eif4enif1
|
UTSW |
11 |
3,179,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R1220:Eif4enif1
|
UTSW |
11 |
3,189,493 (GRCm39) |
splice site |
probably benign |
|
R1511:Eif4enif1
|
UTSW |
11 |
3,186,278 (GRCm39) |
missense |
probably benign |
0.00 |
R1675:Eif4enif1
|
UTSW |
11 |
3,165,686 (GRCm39) |
missense |
probably benign |
0.02 |
R1908:Eif4enif1
|
UTSW |
11 |
3,177,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R1940:Eif4enif1
|
UTSW |
11 |
3,193,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R2173:Eif4enif1
|
UTSW |
11 |
3,192,367 (GRCm39) |
splice site |
probably null |
|
R2517:Eif4enif1
|
UTSW |
11 |
3,171,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R2869:Eif4enif1
|
UTSW |
11 |
3,192,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R2869:Eif4enif1
|
UTSW |
11 |
3,192,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R2870:Eif4enif1
|
UTSW |
11 |
3,192,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R2870:Eif4enif1
|
UTSW |
11 |
3,192,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R2871:Eif4enif1
|
UTSW |
11 |
3,192,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R2871:Eif4enif1
|
UTSW |
11 |
3,192,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R2873:Eif4enif1
|
UTSW |
11 |
3,192,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R3147:Eif4enif1
|
UTSW |
11 |
3,194,003 (GRCm39) |
splice site |
probably null |
|
R4195:Eif4enif1
|
UTSW |
11 |
3,193,186 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4196:Eif4enif1
|
UTSW |
11 |
3,193,186 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4708:Eif4enif1
|
UTSW |
11 |
3,170,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R4755:Eif4enif1
|
UTSW |
11 |
3,194,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R5310:Eif4enif1
|
UTSW |
11 |
3,192,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R5546:Eif4enif1
|
UTSW |
11 |
3,193,989 (GRCm39) |
missense |
probably damaging |
0.99 |
R5816:Eif4enif1
|
UTSW |
11 |
3,192,401 (GRCm39) |
missense |
probably benign |
0.13 |
R6018:Eif4enif1
|
UTSW |
11 |
3,192,481 (GRCm39) |
missense |
probably damaging |
0.97 |
R6036:Eif4enif1
|
UTSW |
11 |
3,189,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R6036:Eif4enif1
|
UTSW |
11 |
3,189,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R6267:Eif4enif1
|
UTSW |
11 |
3,177,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R6514:Eif4enif1
|
UTSW |
11 |
3,190,996 (GRCm39) |
missense |
probably null |
0.01 |
R6638:Eif4enif1
|
UTSW |
11 |
3,192,463 (GRCm39) |
missense |
probably damaging |
0.96 |
R7040:Eif4enif1
|
UTSW |
11 |
3,184,040 (GRCm39) |
missense |
probably benign |
0.33 |
R7232:Eif4enif1
|
UTSW |
11 |
3,165,678 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7385:Eif4enif1
|
UTSW |
11 |
3,170,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R7478:Eif4enif1
|
UTSW |
11 |
3,177,709 (GRCm39) |
nonsense |
probably null |
|
R7749:Eif4enif1
|
UTSW |
11 |
3,192,608 (GRCm39) |
missense |
probably damaging |
0.99 |
R8381:Eif4enif1
|
UTSW |
11 |
3,177,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R9029:Eif4enif1
|
UTSW |
11 |
3,174,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R9622:Eif4enif1
|
UTSW |
11 |
3,165,714 (GRCm39) |
missense |
probably benign |
0.26 |
R9646:Eif4enif1
|
UTSW |
11 |
3,170,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R9694:Eif4enif1
|
UTSW |
11 |
3,170,384 (GRCm39) |
missense |
probably damaging |
0.98 |
R9747:Eif4enif1
|
UTSW |
11 |
3,163,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GATTAGTTACATTTTGCCTGCACTC -3'
(R):5'- TTGAAAACTTCCCTTCCACAGC -3'
Sequencing Primer
(F):5'- GTTCCACTAAGAAGTCAGCAGTGTC -3'
(R):5'- TTCCCTTCCACAGCATAAAGAG -3'
|
Posted On |
2014-10-15 |