Incidental Mutation 'R4907:Xpo7'
| ID |
379135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo7
|
| Ensembl Gene |
ENSMUSG00000022100 |
| Gene Name |
exportin 7 |
| Synonyms |
4930506C02Rik, Ranbp16 |
| MMRRC Submission |
042509-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
R4907 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70899566-71004075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70908069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 903
(M903V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022696]
[ENSMUST00000167242]
[ENSMUST00000226448]
[ENSMUST00000228346]
|
| AlphaFold |
Q9EPK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022696
AA Change: M902V
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: M902V
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167242
AA Change: M903V
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: M903V
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226448
AA Change: M902V
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228317
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228346
AA Change: M903V
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.0700 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
98% (89/91) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-16 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
G |
T |
1: 57,422,350 (GRCm39) |
G242V |
probably damaging |
Het |
| 4933412E24Rik |
T |
C |
15: 59,887,957 (GRCm39) |
E161G |
probably benign |
Het |
| Abcc5 |
A |
G |
16: 20,195,296 (GRCm39) |
S734P |
possibly damaging |
Het |
| Actn1 |
T |
G |
12: 80,228,188 (GRCm39) |
H394P |
probably damaging |
Het |
| Adam8 |
A |
T |
7: 139,569,286 (GRCm39) |
D144E |
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,510,824 (GRCm39) |
N514K |
probably damaging |
Het |
| Ankrd50 |
T |
A |
3: 38,509,122 (GRCm39) |
K1082* |
probably null |
Het |
| Atp4a |
A |
G |
7: 30,418,517 (GRCm39) |
I602V |
possibly damaging |
Het |
| Baz2a |
A |
G |
10: 127,946,677 (GRCm39) |
T64A |
probably damaging |
Het |
| Btbd19 |
A |
G |
4: 116,977,764 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,028,998 (GRCm39) |
S1148T |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,284,007 (GRCm39) |
D103E |
probably benign |
Het |
| Cd209d |
T |
C |
8: 3,927,948 (GRCm39) |
N52S |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 110,066,053 (GRCm39) |
Y776N |
probably damaging |
Het |
| Cdk14 |
A |
G |
5: 5,299,140 (GRCm39) |
V101A |
probably damaging |
Het |
| Cldn22 |
T |
C |
8: 48,277,742 (GRCm39) |
V60A |
probably benign |
Het |
| Clec10a |
G |
A |
11: 70,060,797 (GRCm39) |
G183D |
probably benign |
Het |
| Cnga3 |
T |
C |
1: 37,281,023 (GRCm39) |
|
probably null |
Het |
| Cts3 |
A |
T |
13: 61,714,634 (GRCm39) |
F224I |
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,922,472 (GRCm39) |
|
probably null |
Het |
| Fbxo40 |
A |
G |
16: 36,790,064 (GRCm39) |
Y349H |
probably benign |
Het |
| Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
| Gm10029 |
A |
T |
13: 6,712,592 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14399 |
T |
A |
2: 174,973,182 (GRCm39) |
|
probably benign |
Het |
| Gm9932 |
T |
C |
5: 100,347,014 (GRCm39) |
|
noncoding transcript |
Het |
| Immp1l |
A |
G |
2: 105,767,462 (GRCm39) |
Y107C |
probably damaging |
Het |
| Ism1 |
G |
T |
2: 139,520,672 (GRCm39) |
G28V |
probably benign |
Het |
| Klf1 |
C |
A |
8: 85,629,814 (GRCm39) |
S213* |
probably null |
Het |
| Krt12 |
T |
C |
11: 99,309,188 (GRCm39) |
E329G |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 27,040,942 (GRCm39) |
N1460K |
probably benign |
Het |
| Llgl2 |
T |
A |
11: 115,744,800 (GRCm39) |
Y932* |
probably null |
Het |
| Lrrc7 |
T |
C |
3: 157,866,877 (GRCm39) |
I955V |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,312,899 (GRCm39) |
R7G |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,329,275 (GRCm39) |
E1152G |
probably damaging |
Het |
| Mgam2-ps |
T |
C |
6: 40,811,677 (GRCm39) |
|
noncoding transcript |
Het |
| Mical3 |
T |
A |
6: 120,984,259 (GRCm39) |
M206L |
probably benign |
Het |
| Mndal |
T |
G |
1: 173,690,256 (GRCm39) |
N358T |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,953,889 (GRCm39) |
S824P |
possibly damaging |
Het |
| Ndufb2 |
T |
C |
6: 39,573,554 (GRCm39) |
|
probably benign |
Het |
| Nfatc3 |
C |
A |
8: 106,806,359 (GRCm39) |
H401Q |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,401,066 (GRCm39) |
V810A |
unknown |
Het |
| Nt5c2 |
A |
G |
19: 46,884,978 (GRCm39) |
V245A |
possibly damaging |
Het |
| Or1j4 |
A |
T |
2: 36,740,270 (GRCm39) |
I71F |
probably benign |
Het |
| Or4d5 |
A |
T |
9: 40,011,955 (GRCm39) |
M277K |
probably benign |
Het |
| Or51ah3 |
A |
G |
7: 103,210,241 (GRCm39) |
M186V |
possibly damaging |
Het |
| Or52h9 |
A |
G |
7: 104,202,518 (GRCm39) |
R131G |
probably damaging |
Het |
| Or5b109 |
A |
G |
19: 13,212,157 (GRCm39) |
D181G |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,536,005 (GRCm39) |
|
probably null |
Het |
| Pck1 |
C |
T |
2: 172,998,816 (GRCm39) |
T358I |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,730,065 (GRCm39) |
|
probably benign |
Het |
| Pgm2 |
T |
A |
5: 64,261,221 (GRCm39) |
F238L |
probably benign |
Het |
| Pgr |
G |
A |
9: 8,947,044 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,367,475 (GRCm39) |
V1224E |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,142,581 (GRCm39) |
V487A |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,279,450 (GRCm39) |
D2956G |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,390,703 (GRCm39) |
|
probably null |
Het |
| Rgs22 |
T |
A |
15: 36,087,570 (GRCm39) |
L573F |
possibly damaging |
Het |
| Rufy3 |
T |
G |
5: 88,732,051 (GRCm39) |
I18S |
possibly damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,503,505 (GRCm39) |
L393P |
probably damaging |
Het |
| Snw1 |
T |
C |
12: 87,506,259 (GRCm39) |
I214V |
probably benign |
Het |
| Sorbs1 |
G |
A |
19: 40,328,491 (GRCm39) |
Q595* |
probably null |
Het |
| Spata21 |
T |
A |
4: 140,824,432 (GRCm39) |
|
probably null |
Het |
| Ss18l1 |
G |
T |
2: 179,705,192 (GRCm39) |
|
probably null |
Het |
| Tmem163 |
A |
T |
1: 127,447,107 (GRCm39) |
L176H |
probably damaging |
Het |
| Tpd52 |
T |
C |
3: 9,009,668 (GRCm39) |
|
probably null |
Het |
| Tpsab1 |
T |
A |
17: 25,562,436 (GRCm39) |
Y297F |
possibly damaging |
Het |
| Trim55 |
A |
G |
3: 19,728,538 (GRCm39) |
T450A |
probably benign |
Het |
| Ttf1 |
C |
T |
2: 28,954,668 (GRCm39) |
H11Y |
possibly damaging |
Het |
| Txndc11 |
A |
T |
16: 10,906,398 (GRCm39) |
H377Q |
probably benign |
Het |
| Usp17la |
A |
G |
7: 104,510,355 (GRCm39) |
Y320C |
probably damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,770,348 (GRCm39) |
N547D |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,350,150 (GRCm39) |
|
probably null |
Het |
| Wdr33 |
T |
C |
18: 32,040,046 (GRCm39) |
*1331Q |
probably null |
Het |
| Wdr90 |
T |
A |
17: 26,079,624 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
T |
A |
8: 109,519,986 (GRCm39) |
S369R |
probably damaging |
Het |
| Zfp808 |
T |
C |
13: 62,319,287 (GRCm39) |
F172S |
possibly damaging |
Het |
| Zfp821 |
A |
G |
8: 110,450,625 (GRCm39) |
E55G |
probably benign |
Het |
| Zfp964 |
T |
C |
8: 70,115,972 (GRCm39) |
Y191H |
possibly damaging |
Het |
| Zfyve1 |
T |
C |
12: 83,621,646 (GRCm39) |
T250A |
probably damaging |
Het |
|
| Other mutations in Xpo7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00946:Xpo7
|
APN |
14 |
70,909,098 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01066:Xpo7
|
APN |
14 |
70,939,195 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01610:Xpo7
|
APN |
14 |
70,940,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01716:Xpo7
|
APN |
14 |
70,922,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01885:Xpo7
|
APN |
14 |
70,903,475 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02647:Xpo7
|
APN |
14 |
70,922,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Xpo7
|
APN |
14 |
70,918,702 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03245:Xpo7
|
APN |
14 |
70,925,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB010:Xpo7
|
UTSW |
14 |
70,944,788 (GRCm39) |
missense |
probably benign |
0.05 |
|
BB020:Xpo7
|
UTSW |
14 |
70,944,788 (GRCm39) |
missense |
probably benign |
0.05 |
|
G1patch:Xpo7
|
UTSW |
14 |
70,914,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4687001:Xpo7
|
UTSW |
14 |
70,904,589 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0893:Xpo7
|
UTSW |
14 |
70,903,537 (GRCm39) |
splice site |
probably benign |
|
|
R1222:Xpo7
|
UTSW |
14 |
70,904,524 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1474:Xpo7
|
UTSW |
14 |
70,936,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1509:Xpo7
|
UTSW |
14 |
70,915,582 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1867:Xpo7
|
UTSW |
14 |
70,931,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Xpo7
|
UTSW |
14 |
70,933,064 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2105:Xpo7
|
UTSW |
14 |
70,928,431 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2369:Xpo7
|
UTSW |
14 |
70,925,171 (GRCm39) |
nonsense |
probably null |
|
|
R2937:Xpo7
|
UTSW |
14 |
70,909,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2938:Xpo7
|
UTSW |
14 |
70,909,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2940:Xpo7
|
UTSW |
14 |
70,904,577 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2940:Xpo7
|
UTSW |
14 |
70,904,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3001:Xpo7
|
UTSW |
14 |
70,930,085 (GRCm39) |
splice site |
probably benign |
|
|
R4436:Xpo7
|
UTSW |
14 |
70,906,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4529:Xpo7
|
UTSW |
14 |
70,906,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Xpo7
|
UTSW |
14 |
70,914,256 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4875:Xpo7
|
UTSW |
14 |
70,914,256 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5007:Xpo7
|
UTSW |
14 |
70,925,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5282:Xpo7
|
UTSW |
14 |
70,921,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5346:Xpo7
|
UTSW |
14 |
70,921,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5522:Xpo7
|
UTSW |
14 |
70,909,090 (GRCm39) |
nonsense |
probably null |
|
|
R5533:Xpo7
|
UTSW |
14 |
70,931,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5668:Xpo7
|
UTSW |
14 |
70,920,286 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6042:Xpo7
|
UTSW |
14 |
70,933,103 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6052:Xpo7
|
UTSW |
14 |
70,921,159 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6066:Xpo7
|
UTSW |
14 |
70,919,778 (GRCm39) |
missense |
probably null |
0.99 |
|
R6085:Xpo7
|
UTSW |
14 |
70,934,051 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6180:Xpo7
|
UTSW |
14 |
70,920,243 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6291:Xpo7
|
UTSW |
14 |
70,942,130 (GRCm39) |
nonsense |
probably null |
|
|
R6401:Xpo7
|
UTSW |
14 |
70,919,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6593:Xpo7
|
UTSW |
14 |
70,919,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6725:Xpo7
|
UTSW |
14 |
70,914,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6938:Xpo7
|
UTSW |
14 |
70,903,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6996:Xpo7
|
UTSW |
14 |
70,906,888 (GRCm39) |
missense |
probably benign |
|
|
R7020:Xpo7
|
UTSW |
14 |
70,903,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7053:Xpo7
|
UTSW |
14 |
70,922,298 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7061:Xpo7
|
UTSW |
14 |
70,908,512 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7095:Xpo7
|
UTSW |
14 |
70,942,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Xpo7
|
UTSW |
14 |
70,909,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7933:Xpo7
|
UTSW |
14 |
70,944,788 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8044:Xpo7
|
UTSW |
14 |
70,922,366 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8438:Xpo7
|
UTSW |
14 |
70,940,672 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8495:Xpo7
|
UTSW |
14 |
70,907,989 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8518:Xpo7
|
UTSW |
14 |
70,944,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9018:Xpo7
|
UTSW |
14 |
70,944,864 (GRCm39) |
nonsense |
probably null |
|
|
R9129:Xpo7
|
UTSW |
14 |
70,909,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9385:Xpo7
|
UTSW |
14 |
70,925,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9567:Xpo7
|
UTSW |
14 |
70,903,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9569:Xpo7
|
UTSW |
14 |
70,906,140 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9610:Xpo7
|
UTSW |
14 |
70,925,617 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9611:Xpo7
|
UTSW |
14 |
70,925,617 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0062:Xpo7
|
UTSW |
14 |
70,922,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Xpo7
|
UTSW |
14 |
70,930,150 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCTCATGACCTGGAGCTTG -3'
(R):5'- TTCACGCCCAGGTTGTGTTC -3'
Sequencing Primer
(F):5'- ATGACCTGGAGCTTGATTACC -3'
(R):5'- TCTCTGAGTTCAAGAACAGCCTGG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation