Incidental Mutation 'R5668:Xpo7'
| ID |
442469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo7
|
| Ensembl Gene |
ENSMUSG00000022100 |
| Gene Name |
exportin 7 |
| Synonyms |
4930506C02Rik, Ranbp16 |
| MMRRC Submission |
043311-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
R5668 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70899566-71004075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70920286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 627
(V627I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022696]
[ENSMUST00000167242]
[ENSMUST00000226448]
[ENSMUST00000228346]
|
| AlphaFold |
Q9EPK7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022696
AA Change: V627I
PolyPhen 2
Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: V627I
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167242
AA Change: V628I
PolyPhen 2
Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: V628I
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226448
AA Change: V627I
PolyPhen 2
Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227550
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228346
AA Change: V628I
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.0837 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
99% (84/85) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
G |
7: 28,603,975 (GRCm39) |
W429R |
probably damaging |
Het |
| Afg1l |
C |
T |
10: 42,236,236 (GRCm39) |
C272Y |
probably damaging |
Het |
| Agrn |
T |
C |
4: 156,251,770 (GRCm39) |
T1831A |
probably damaging |
Het |
| Aifm2 |
T |
C |
10: 61,561,696 (GRCm39) |
V14A |
probably damaging |
Het |
| Angptl3 |
A |
T |
4: 98,920,321 (GRCm39) |
|
probably null |
Het |
| Arfgap1 |
A |
T |
2: 180,615,912 (GRCm39) |
D197V |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,678,294 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,817,350 (GRCm39) |
I1387M |
probably damaging |
Het |
| Cavin4 |
A |
G |
4: 48,672,499 (GRCm39) |
T315A |
probably benign |
Het |
| Cep128 |
T |
C |
12: 90,966,410 (GRCm39) |
T1066A |
probably benign |
Het |
| Cln3 |
T |
C |
7: 126,171,558 (GRCm39) |
T376A |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,656,397 (GRCm39) |
|
silent |
Het |
| Colec12 |
T |
A |
18: 9,848,963 (GRCm39) |
D380E |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,559,151 (GRCm39) |
I2371V |
possibly damaging |
Het |
| Cspg4b |
A |
G |
13: 113,453,701 (GRCm39) |
S55G |
possibly damaging |
Het |
| Cxcl3 |
T |
C |
5: 90,935,299 (GRCm39) |
S99P |
unknown |
Het |
| Ddx60 |
A |
G |
8: 62,453,612 (GRCm39) |
R1244G |
probably benign |
Het |
| Dhx38 |
T |
C |
8: 110,280,048 (GRCm39) |
D914G |
probably damaging |
Het |
| Dlc1 |
T |
G |
8: 37,404,655 (GRCm39) |
|
probably benign |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,393 (GRCm39) |
I264F |
probably benign |
Het |
| Fam161b |
A |
G |
12: 84,403,124 (GRCm39) |
S169P |
probably damaging |
Het |
| Fastkd1 |
A |
G |
2: 69,537,725 (GRCm39) |
S286P |
possibly damaging |
Het |
| Fmn2 |
A |
T |
1: 174,409,603 (GRCm39) |
E612V |
unknown |
Het |
| Foxb1 |
T |
A |
9: 69,667,528 (GRCm39) |
M1L |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,007,402 (GRCm39) |
C164* |
probably null |
Het |
| Gm43302 |
T |
A |
5: 105,423,678 (GRCm39) |
M432L |
probably benign |
Het |
| Gm4353 |
C |
A |
7: 115,682,913 (GRCm39) |
A223S |
probably damaging |
Het |
| Gpatch8 |
T |
C |
11: 102,391,693 (GRCm39) |
K143R |
unknown |
Het |
| Gpr15 |
A |
G |
16: 58,538,013 (GRCm39) |
S359P |
probably damaging |
Het |
| Gucy2e |
A |
G |
11: 69,119,207 (GRCm39) |
L649P |
probably damaging |
Het |
| H2-M10.5 |
C |
A |
17: 37,085,473 (GRCm39) |
H211N |
probably damaging |
Het |
| Hs6st1 |
T |
C |
1: 36,142,970 (GRCm39) |
Y302H |
probably damaging |
Het |
| Khdrbs2 |
A |
T |
1: 32,506,851 (GRCm39) |
D165V |
probably damaging |
Het |
| Klra13-ps |
T |
G |
6: 130,281,246 (GRCm39) |
|
noncoding transcript |
Het |
| Lrrc37 |
T |
A |
11: 103,507,880 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,391,001 (GRCm39) |
T1475S |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,184,844 (GRCm39) |
S437P |
probably damaging |
Het |
| Maz |
C |
T |
7: 126,624,494 (GRCm39) |
C342Y |
probably damaging |
Het |
| Mcf2l |
C |
A |
8: 13,063,812 (GRCm39) |
S1008* |
probably null |
Het |
| Mcmbp |
T |
C |
7: 128,314,478 (GRCm39) |
D246G |
probably benign |
Het |
| Mipol1 |
G |
A |
12: 57,372,346 (GRCm39) |
R135H |
possibly damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,357,955 (GRCm39) |
Y4613F |
possibly damaging |
Het |
| Nup188 |
G |
A |
2: 30,226,336 (GRCm39) |
A1118T |
probably damaging |
Het |
| Or10g6 |
A |
T |
9: 39,933,964 (GRCm39) |
I92F |
probably damaging |
Het |
| Or2k2 |
T |
A |
4: 58,785,489 (GRCm39) |
I78F |
probably benign |
Het |
| Or4a76 |
G |
A |
2: 89,460,688 (GRCm39) |
L185F |
probably damaging |
Het |
| Or4c121 |
A |
T |
2: 89,024,170 (GRCm39) |
D69E |
possibly damaging |
Het |
| Or4z4 |
A |
G |
19: 12,076,290 (GRCm39) |
S238P |
probably damaging |
Het |
| Or51f1e |
A |
T |
7: 102,747,103 (GRCm39) |
S52C |
probably benign |
Het |
| Or51h7 |
T |
C |
7: 102,591,128 (GRCm39) |
K219E |
probably benign |
Het |
| P3h1 |
T |
A |
4: 119,101,243 (GRCm39) |
I460N |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,245,334 (GRCm39) |
D1101G |
probably benign |
Het |
| Phlpp2 |
C |
A |
8: 110,655,205 (GRCm39) |
Q667K |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,074,666 (GRCm39) |
F434L |
possibly damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,164,602 (GRCm39) |
I602N |
probably damaging |
Het |
| Rdh8 |
A |
C |
9: 20,736,475 (GRCm39) |
I181L |
probably benign |
Het |
| Rnf181 |
A |
G |
6: 72,338,505 (GRCm39) |
M1T |
probably null |
Het |
| Rpl29-ps2 |
A |
G |
13: 4,664,221 (GRCm39) |
|
noncoding transcript |
Het |
| Sart3 |
A |
G |
5: 113,883,217 (GRCm39) |
|
probably null |
Het |
| Sec14l2 |
A |
C |
11: 4,059,189 (GRCm39) |
L160R |
probably damaging |
Het |
| Senp1 |
C |
T |
15: 97,946,236 (GRCm39) |
R503H |
probably damaging |
Het |
| Shoc1 |
A |
G |
4: 59,047,399 (GRCm39) |
S1407P |
probably benign |
Het |
| Slc22a2 |
T |
C |
17: 12,827,296 (GRCm39) |
V316A |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 55,556,898 (GRCm39) |
I365F |
possibly damaging |
Het |
| Spag5 |
T |
C |
11: 78,195,542 (GRCm39) |
V283A |
possibly damaging |
Het |
| Srebf2 |
C |
T |
15: 82,076,456 (GRCm39) |
T702I |
probably benign |
Het |
| Sun3 |
A |
G |
11: 8,981,433 (GRCm39) |
|
probably null |
Het |
| Syt6 |
A |
G |
3: 103,528,217 (GRCm39) |
Y312C |
probably damaging |
Het |
| Tas2r121 |
T |
A |
6: 132,677,756 (GRCm39) |
Y72F |
possibly damaging |
Het |
| Tfrc |
A |
G |
16: 32,442,194 (GRCm39) |
Y473C |
probably damaging |
Het |
| Trp63 |
C |
T |
16: 25,684,935 (GRCm39) |
A274V |
possibly damaging |
Het |
| Trpm5 |
T |
C |
7: 142,626,966 (GRCm39) |
D1085G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,745,008 (GRCm39) |
V5347A |
probably benign |
Het |
| Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
| Vma21-ps |
T |
A |
4: 52,496,946 (GRCm39) |
Q100L |
possibly damaging |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,873 (GRCm39) |
N239S |
probably benign |
Het |
| Wfdc8 |
T |
C |
2: 164,439,339 (GRCm39) |
|
probably benign |
Het |
| Xkr4 |
T |
A |
1: 3,741,258 (GRCm39) |
Y105F |
probably damaging |
Het |
| Zfp606 |
T |
C |
7: 12,226,479 (GRCm39) |
V200A |
probably benign |
Het |
| Zfp936 |
A |
T |
7: 42,839,858 (GRCm39) |
S441C |
possibly 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 |
|
|
R4907:Xpo7
|
UTSW |
14 |
70,908,069 (GRCm39) |
missense |
probably benign |
0.16 |
|
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 |
|
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'- CCCCAAAAGCAGTTCTGTGATG -3'
(R):5'- AATCCGGTTCTAAGAAGTTTCTGTG -3'
Sequencing Primer
(F):5'- CAAAAGCAGTTCTGTGATGGGAGTG -3'
(R):5'- CTTAAAAGTAGCAGTTTGGTATGGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation