Incidental Mutation 'R4875:Xpo7'
| ID |
376743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo7
|
| Ensembl Gene |
ENSMUSG00000022100 |
| Gene Name |
exportin 7 |
| Synonyms |
4930506C02Rik, Ranbp16 |
| MMRRC Submission |
044392-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R4875 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70899566-71004075 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 70914256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022696]
[ENSMUST00000167242]
[ENSMUST00000226448]
[ENSMUST00000228346]
|
| AlphaFold |
Q9EPK7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022696
|
| SMART Domains |
Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167242
|
| SMART Domains |
Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226448
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227550
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228317
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228346
|
| Meta Mutation Damage Score |
0.9600 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
95% (57/60) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak1 |
A |
T |
2: 32,521,189 (GRCm39) |
E119D |
probably benign |
Het |
| Alox5 |
A |
T |
6: 116,390,811 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
C |
11: 80,011,515 (GRCm39) |
V1294A |
probably damaging |
Het |
| BB019430 |
A |
G |
10: 58,539,865 (GRCm39) |
|
noncoding transcript |
Het |
| Bbs9 |
T |
C |
9: 22,490,011 (GRCm39) |
F261L |
probably benign |
Het |
| Catsperb |
A |
T |
12: 101,554,244 (GRCm39) |
N646I |
possibly damaging |
Het |
| Ccdc112 |
A |
G |
18: 46,429,356 (GRCm39) |
I114T |
probably damaging |
Het |
| Cecr2 |
T |
C |
6: 120,727,877 (GRCm39) |
L340P |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,653,817 (GRCm39) |
V85E |
probably damaging |
Het |
| Cnpy2 |
C |
A |
10: 128,161,964 (GRCm39) |
T79K |
probably damaging |
Het |
| Cntn4 |
G |
A |
6: 106,414,874 (GRCm39) |
R135H |
possibly damaging |
Het |
| Cpne8 |
T |
A |
15: 90,532,771 (GRCm39) |
|
probably benign |
Het |
| Ctso |
C |
T |
3: 81,849,688 (GRCm39) |
|
probably benign |
Het |
| Cyp3a16 |
C |
A |
5: 145,389,659 (GRCm39) |
M235I |
probably benign |
Het |
| Dll3 |
A |
G |
7: 27,995,860 (GRCm39) |
C314R |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,728,085 (GRCm39) |
N2928D |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dqx1 |
C |
A |
6: 83,037,993 (GRCm39) |
D460E |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,051,164 (GRCm39) |
C438R |
probably damaging |
Het |
| Ehd3 |
T |
G |
17: 74,112,299 (GRCm39) |
V21G |
probably damaging |
Het |
| Ero1b |
G |
A |
13: 12,619,325 (GRCm39) |
V440I |
probably damaging |
Het |
| Fpgt |
G |
A |
3: 154,793,550 (GRCm39) |
A159V |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,714,229 (GRCm39) |
L123P |
possibly damaging |
Het |
| Gm14496 |
A |
T |
2: 181,639,226 (GRCm39) |
R439W |
probably damaging |
Het |
| Gm4353 |
G |
C |
7: 115,683,648 (GRCm39) |
P49R |
probably damaging |
Het |
| Gsdmc2 |
C |
T |
15: 63,700,101 (GRCm39) |
A224T |
probably benign |
Het |
| Helz |
T |
A |
11: 107,528,560 (GRCm39) |
|
probably benign |
Het |
| Hnf1a |
T |
C |
5: 115,108,732 (GRCm39) |
T58A |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcns1 |
T |
C |
2: 164,010,021 (GRCm39) |
Y246C |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,742,892 (GRCm39) |
E549G |
probably benign |
Het |
| Krt9 |
T |
C |
11: 100,080,863 (GRCm39) |
I330V |
probably benign |
Het |
| Lair1 |
A |
T |
7: 4,032,033 (GRCm39) |
S25T |
probably benign |
Het |
| Lhx4 |
T |
C |
1: 155,581,013 (GRCm39) |
T171A |
possibly damaging |
Het |
| Luzp2 |
A |
G |
7: 54,816,996 (GRCm39) |
I149V |
possibly damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,557,422 (GRCm39) |
S143T |
probably benign |
Het |
| Mcph1 |
A |
G |
8: 18,675,574 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
G |
A |
1: 127,396,986 (GRCm39) |
V578M |
probably damaging |
Het |
| Mis18bp1 |
G |
A |
12: 65,208,209 (GRCm39) |
T168M |
probably benign |
Het |
| Mospd4 |
G |
T |
18: 46,598,804 (GRCm39) |
|
noncoding transcript |
Het |
| Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,379,114 (GRCm39) |
V626A |
probably damaging |
Het |
| Naa80 |
C |
T |
9: 107,460,818 (GRCm39) |
R238C |
probably damaging |
Het |
| Ncam1 |
T |
C |
9: 49,418,921 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTG |
11: 62,324,437 (GRCm39) |
|
probably benign |
Het |
| Ndufv1 |
T |
C |
19: 4,062,653 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
A |
T |
7: 5,301,858 (GRCm39) |
F211L |
probably benign |
Het |
| Or10a49 |
A |
T |
7: 108,467,993 (GRCm39) |
F123I |
probably damaging |
Het |
| Or10q12 |
T |
A |
19: 13,746,126 (GRCm39) |
M140K |
probably damaging |
Het |
| Or2ad1 |
T |
A |
13: 21,326,450 (GRCm39) |
Y259F |
probably damaging |
Het |
| Osbpl11 |
G |
A |
16: 33,054,863 (GRCm39) |
V649I |
probably benign |
Het |
| Pax8 |
T |
A |
2: 24,331,652 (GRCm39) |
M144L |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,205,688 (GRCm39) |
T2555A |
probably benign |
Het |
| Plat |
T |
A |
8: 23,258,466 (GRCm39) |
I23K |
probably benign |
Het |
| Plpp2 |
G |
A |
10: 79,366,763 (GRCm39) |
T51M |
probably damaging |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Prl7c1 |
T |
C |
13: 27,957,742 (GRCm39) |
M233V |
probably benign |
Het |
| Prox1 |
A |
C |
1: 189,894,319 (GRCm39) |
F42C |
probably damaging |
Het |
| Pwwp2b |
A |
T |
7: 138,835,978 (GRCm39) |
Q473L |
possibly damaging |
Het |
| Rims4 |
A |
T |
2: 163,707,443 (GRCm39) |
N127K |
probably null |
Het |
| Scn1a |
T |
C |
2: 66,158,820 (GRCm39) |
T367A |
possibly damaging |
Het |
| Slc23a2 |
A |
G |
2: 131,898,800 (GRCm39) |
I579T |
possibly damaging |
Het |
| Sp9 |
T |
C |
2: 73,103,962 (GRCm39) |
V172A |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,003,396 (GRCm39) |
L109Q |
probably damaging |
Het |
| Strap |
ACCTGCCCTCCT |
ACCT |
6: 137,726,316 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
T |
17: 6,038,343 (GRCm39) |
|
probably benign |
Het |
| Tcstv2c |
T |
C |
13: 120,616,206 (GRCm39) |
V15A |
probably damaging |
Het |
| Tgif2-ps2 |
A |
G |
17: 40,426,274 (GRCm39) |
|
noncoding transcript |
Het |
| Tnrc18 |
A |
T |
5: 142,750,932 (GRCm39) |
M1216K |
unknown |
Het |
| Tpst2 |
T |
A |
5: 112,457,687 (GRCm39) |
Y69* |
probably null |
Het |
| Tpx2 |
C |
A |
2: 152,735,535 (GRCm39) |
A721E |
probably benign |
Het |
| Trmt1l |
A |
G |
1: 151,330,755 (GRCm39) |
T591A |
probably benign |
Het |
| Tuba8 |
T |
A |
6: 121,203,042 (GRCm39) |
|
probably benign |
Het |
| Ubiad1 |
T |
C |
4: 148,528,556 (GRCm39) |
T118A |
possibly damaging |
Het |
| Unc13c |
T |
C |
9: 73,424,566 (GRCm39) |
T2017A |
probably damaging |
Het |
| Vmn1r59 |
G |
T |
7: 5,457,108 (GRCm39) |
N217K |
probably benign |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,367 (GRCm39) |
I624V |
probably damaging |
Het |
| Wdr4 |
A |
G |
17: 31,718,129 (GRCm39) |
V315A |
probably benign |
Het |
| Zfp827 |
T |
A |
8: 79,787,403 (GRCm39) |
W190R |
probably damaging |
Het |
| Zfp971 |
A |
G |
2: 177,674,940 (GRCm39) |
T180A |
probably benign |
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 |
|
|
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 |
|
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'- CTGCAAATTTGATAGTAGTGCGTGC -3'
(R):5'- CGGAGTACGCTGTGTTCTTC -3'
Sequencing Primer
(F):5'- TGCGTGCACCACAATCTG -3'
(R):5'- CGCTGTGTTCTTCAAAATAAAAGCAC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation