Incidental Mutation 'R5007:Xpo7'
| ID |
390242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo7
|
| Ensembl Gene |
ENSMUSG00000022100 |
| Gene Name |
exportin 7 |
| Synonyms |
4930506C02Rik, Ranbp16 |
| MMRRC Submission |
042598-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R5007 (G1)
|
| Quality Score |
195 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70899566-71004075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70925704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 446
(Q446R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022696]
[ENSMUST00000167242]
[ENSMUST00000226448]
[ENSMUST00000228346]
|
| AlphaFold |
Q9EPK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022696
AA Change: Q445R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: Q445R
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167242
AA Change: Q446R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: Q446R
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226448
AA Change: Q445R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227550
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228346
AA Change: Q446R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.0984 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.6%
|
| Validation Efficiency |
99% (89/90) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
G |
7: 27,278,192 (GRCm39) |
T242R |
probably damaging |
Het |
| Abca8b |
T |
C |
11: 109,827,590 (GRCm39) |
T1473A |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,217,393 (GRCm39) |
Y134C |
probably damaging |
Het |
| Alg9 |
T |
A |
9: 50,699,524 (GRCm39) |
M183K |
probably damaging |
Het |
| Ambra1 |
T |
C |
2: 91,602,655 (GRCm39) |
I213T |
possibly damaging |
Het |
| Ankrd55 |
T |
A |
13: 112,504,466 (GRCm39) |
V376D |
probably benign |
Het |
| Ano4 |
A |
C |
10: 88,948,807 (GRCm39) |
V166G |
probably benign |
Het |
| Aox3 |
T |
A |
1: 58,202,583 (GRCm39) |
C730S |
probably benign |
Het |
| Apc |
T |
A |
18: 34,446,016 (GRCm39) |
Y953N |
probably damaging |
Het |
| Ass1 |
T |
C |
2: 31,391,544 (GRCm39) |
F273S |
possibly damaging |
Het |
| Atg2b |
T |
C |
12: 105,610,135 (GRCm39) |
|
probably null |
Het |
| B3gnt9 |
A |
G |
8: 105,981,122 (GRCm39) |
Y89H |
probably damaging |
Het |
| Cd38 |
T |
G |
5: 44,063,506 (GRCm39) |
F200V |
probably damaging |
Het |
| Cep170 |
G |
T |
1: 176,597,380 (GRCm39) |
R388S |
probably benign |
Het |
| Col22a1 |
A |
T |
15: 71,816,271 (GRCm39) |
D614E |
probably damaging |
Het |
| Crybg3 |
C |
A |
16: 59,378,463 (GRCm39) |
|
probably benign |
Het |
| Ctdp1 |
A |
T |
18: 80,463,695 (GRCm39) |
S114T |
probably damaging |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,172,439 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,362,283 (GRCm39) |
V3715M |
probably damaging |
Het |
| Dok1 |
A |
T |
6: 83,009,297 (GRCm39) |
L185H |
probably damaging |
Het |
| Dpep1 |
T |
C |
8: 123,926,117 (GRCm39) |
V152A |
probably damaging |
Het |
| Eif2ak1 |
G |
T |
5: 143,810,698 (GRCm39) |
R136L |
probably benign |
Het |
| Eml5 |
A |
T |
12: 98,797,224 (GRCm39) |
S1063T |
probably damaging |
Het |
| Fam171b |
T |
A |
2: 83,685,853 (GRCm39) |
L179* |
probably null |
Het |
| Flot1 |
G |
T |
17: 36,135,267 (GRCm39) |
|
probably benign |
Het |
| Fmn2 |
A |
T |
1: 174,571,866 (GRCm39) |
H1491L |
probably damaging |
Het |
| Frem1 |
C |
T |
4: 82,859,049 (GRCm39) |
|
probably benign |
Het |
| Gdf2 |
A |
G |
14: 33,666,863 (GRCm39) |
D195G |
probably benign |
Het |
| Golga4 |
T |
G |
9: 118,387,368 (GRCm39) |
C1497G |
probably benign |
Het |
| Gpaa1 |
T |
A |
15: 76,215,868 (GRCm39) |
C33* |
probably null |
Het |
| Hectd1 |
A |
T |
12: 51,849,443 (GRCm39) |
C254S |
possibly damaging |
Het |
| Hspa1b |
C |
T |
17: 35,177,086 (GRCm39) |
A300T |
probably benign |
Het |
| Igf2bp2 |
A |
G |
16: 21,898,246 (GRCm39) |
I233T |
probably damaging |
Het |
| Iqce |
C |
A |
5: 140,661,003 (GRCm39) |
A491S |
possibly damaging |
Het |
| Irak3 |
A |
G |
10: 119,982,334 (GRCm39) |
|
probably null |
Het |
| Kcnip1 |
T |
A |
11: 33,592,495 (GRCm39) |
H124L |
probably benign |
Het |
| Klhdc10 |
G |
A |
6: 30,450,640 (GRCm39) |
R393Q |
probably benign |
Het |
| Klhl28 |
C |
T |
12: 65,004,001 (GRCm39) |
E171K |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,452,448 (GRCm39) |
V288A |
possibly damaging |
Het |
| Mdp1 |
C |
T |
14: 55,896,683 (GRCm39) |
R126Q |
probably damaging |
Het |
| Meltf |
A |
G |
16: 31,706,380 (GRCm39) |
D288G |
possibly damaging |
Het |
| Mgat4e |
T |
A |
1: 134,468,890 (GRCm39) |
I385F |
probably benign |
Het |
| Mical3 |
A |
C |
6: 121,015,030 (GRCm39) |
V211G |
probably damaging |
Het |
| Mlh1 |
A |
G |
9: 111,100,478 (GRCm39) |
*39R |
probably null |
Het |
| Mre11a |
A |
G |
9: 14,721,116 (GRCm39) |
D345G |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Nat1 |
T |
G |
8: 67,944,077 (GRCm39) |
L154R |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,161,905 (GRCm39) |
D851G |
probably damaging |
Het |
| Npas4 |
A |
C |
19: 5,039,684 (GRCm39) |
V54G |
possibly damaging |
Het |
| Or13n4 |
T |
C |
7: 106,423,364 (GRCm39) |
Y123C |
probably damaging |
Het |
| Pcbp4 |
G |
A |
9: 106,339,292 (GRCm39) |
G100R |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,770,737 (GRCm39) |
T1072A |
probably benign |
Het |
| Pcdh18 |
T |
C |
3: 49,708,906 (GRCm39) |
N803S |
probably benign |
Het |
| Ppat |
C |
T |
5: 77,076,525 (GRCm39) |
|
probably benign |
Het |
| Ppm1l |
T |
A |
3: 69,224,931 (GRCm39) |
L11Q |
probably damaging |
Het |
| Pram1 |
T |
A |
17: 33,864,411 (GRCm39) |
V658E |
probably damaging |
Het |
| Prr12 |
C |
T |
7: 44,699,225 (GRCm39) |
|
probably benign |
Het |
| Prxl2b |
A |
G |
4: 154,981,531 (GRCm39) |
|
probably null |
Het |
| Ptprq |
A |
G |
10: 107,444,137 (GRCm39) |
V1489A |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,768,540 (GRCm39) |
I2817F |
probably damaging |
Het |
| Sall2 |
A |
G |
14: 52,551,950 (GRCm39) |
L413P |
probably damaging |
Het |
| Slc7a9 |
T |
A |
7: 35,153,554 (GRCm39) |
M185K |
probably benign |
Het |
| Stag2 |
C |
T |
X: 41,355,130 (GRCm39) |
H1149Y |
possibly damaging |
Het |
| Timm10b |
T |
A |
7: 105,290,298 (GRCm39) |
Y64N |
probably damaging |
Het |
| Tmem30c |
T |
C |
16: 57,086,868 (GRCm39) |
T312A |
probably benign |
Het |
| Tmem9b |
G |
T |
7: 109,344,550 (GRCm39) |
C17* |
probably null |
Het |
| Vmn2r68 |
C |
A |
7: 84,881,622 (GRCm39) |
R486L |
probably benign |
Het |
| Xkr9 |
T |
A |
1: 13,771,387 (GRCm39) |
I301N |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,259,362 (GRCm39) |
V503A |
possibly damaging |
Het |
| Zfp280b |
T |
A |
10: 75,875,048 (GRCm39) |
V309D |
probably damaging |
Het |
| Zfp53 |
T |
A |
17: 21,729,772 (GRCm39) |
C602S |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,974,643 (GRCm39) |
N395I |
possibly damaging |
Het |
| Zfp644 |
T |
C |
5: 106,783,867 (GRCm39) |
I862M |
probably benign |
Het |
| Zfp715 |
T |
C |
7: 42,949,019 (GRCm39) |
T314A |
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 |
|
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'- GACAGTACCTATGCTCACTGC -3'
(R):5'- GAAGCATAAGACTGCCAGGTTC -3'
Sequencing Primer
(F):5'- CACACTGCACTCACCCTCCTG -3'
(R):5'- TATCTGATGCTGGGACCAAGACATC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation