Incidental Mutation 'R9129:Xpo7'
| ID |
693500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo7
|
| Ensembl Gene |
ENSMUSG00000022100 |
| Gene Name |
exportin 7 |
| Synonyms |
4930506C02Rik, Ranbp16 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R9129 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70899566-71004075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70909113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 802
(T802A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022696]
[ENSMUST00000167242]
[ENSMUST00000226448]
[ENSMUST00000228346]
|
| AlphaFold |
Q9EPK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022696
AA Change: T802A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: T802A
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167242
AA Change: T803A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: T803A
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226448
AA Change: T802A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228346
AA Change: T803A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (68/69) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,523,223 (GRCm39) |
S1238P |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,119,089 (GRCm39) |
L3532S |
probably benign |
Het |
| Ankfn1 |
A |
G |
11: 89,312,042 (GRCm39) |
L701P |
|
Het |
| Aph1b |
A |
C |
9: 66,686,595 (GRCm39) |
I225S |
probably benign |
Het |
| Asic4 |
A |
T |
1: 75,446,469 (GRCm39) |
H337L |
possibly damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,368,412 (GRCm39) |
E187G |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,517,205 (GRCm39) |
M376T |
probably benign |
Het |
| Bod1l |
G |
T |
5: 41,976,220 (GRCm39) |
T1698K |
probably damaging |
Het |
| Cacna2d4 |
T |
C |
6: 119,313,415 (GRCm39) |
|
probably null |
Het |
| Catsper1 |
C |
A |
19: 5,390,402 (GRCm39) |
|
probably benign |
Het |
| Cd248 |
T |
C |
19: 5,120,140 (GRCm39) |
S663P |
probably benign |
Het |
| Crispld2 |
A |
T |
8: 120,737,488 (GRCm39) |
M80L |
possibly damaging |
Het |
| Cwc22 |
G |
A |
2: 77,726,659 (GRCm39) |
Q807* |
probably null |
Het |
| Cyp2a4 |
T |
C |
7: 26,014,136 (GRCm39) |
Y438H |
probably benign |
Het |
| Cyp2b23 |
A |
T |
7: 26,381,189 (GRCm39) |
|
probably benign |
Het |
| Dsp |
T |
A |
13: 38,377,126 (GRCm39) |
V1637D |
probably benign |
Het |
| Elovl1 |
A |
T |
4: 118,289,156 (GRCm39) |
Y227F |
possibly damaging |
Het |
| Ern1 |
T |
C |
11: 106,300,946 (GRCm39) |
K483E |
probably benign |
Het |
| Fzd2 |
T |
C |
11: 102,496,465 (GRCm39) |
F303S |
probably benign |
Het |
| Gm9944 |
A |
T |
4: 144,179,763 (GRCm39) |
V42D |
unknown |
Het |
| Grik5 |
G |
A |
7: 24,767,429 (GRCm39) |
|
probably benign |
Het |
| Hdac4 |
T |
C |
1: 91,909,929 (GRCm39) |
D445G |
probably benign |
Het |
| Hinfp |
C |
T |
9: 44,209,062 (GRCm39) |
R352H |
probably damaging |
Het |
| Hrnr |
A |
G |
3: 93,231,277 (GRCm39) |
H505R |
unknown |
Het |
| Hsfy2 |
C |
T |
1: 56,675,752 (GRCm39) |
D262N |
probably benign |
Het |
| Hspa4 |
G |
A |
11: 53,174,463 (GRCm39) |
Q186* |
probably null |
Het |
| Ipo8 |
T |
C |
6: 148,700,125 (GRCm39) |
H584R |
probably benign |
Het |
| Krtap8-1 |
T |
A |
16: 89,284,636 (GRCm39) |
R54* |
probably null |
Het |
| Lama4 |
T |
A |
10: 38,932,887 (GRCm39) |
Y588N |
probably benign |
Het |
| Lekr1 |
T |
A |
3: 65,591,426 (GRCm39) |
Y54* |
probably null |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Lypd10 |
A |
G |
7: 24,413,170 (GRCm39) |
D163G |
probably benign |
Het |
| Lzts3 |
A |
T |
2: 130,476,865 (GRCm39) |
Y528N |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,676,812 (GRCm39) |
V628E |
probably benign |
Het |
| Mgat5b |
A |
C |
11: 116,859,348 (GRCm39) |
|
probably benign |
Het |
| Mical2 |
A |
C |
7: 111,870,589 (GRCm39) |
K26T |
possibly damaging |
Het |
| Mllt10 |
C |
T |
2: 18,167,404 (GRCm39) |
S443L |
probably benign |
Het |
| Mtf1 |
G |
A |
4: 124,698,913 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,154,068 (GRCm39) |
F669L |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,077,428 (GRCm39) |
|
probably null |
Het |
| Nog |
G |
C |
11: 89,192,602 (GRCm39) |
S82W |
probably damaging |
Het |
| Ntrk2 |
A |
G |
13: 59,276,084 (GRCm39) |
T795A |
probably benign |
Het |
| Or4a78 |
A |
G |
2: 89,497,930 (GRCm39) |
F100S |
probably damaging |
Het |
| Or56a3b |
G |
A |
7: 104,771,223 (GRCm39) |
M186I |
probably benign |
Het |
| Or5m3 |
A |
T |
2: 85,838,356 (GRCm39) |
M79L |
|
Het |
| Or5w17 |
A |
T |
2: 87,584,048 (GRCm39) |
F96L |
probably benign |
Het |
| Pira12 |
C |
A |
7: 3,898,500 (GRCm39) |
|
probably null |
Het |
| Prl6a1 |
A |
T |
13: 27,502,064 (GRCm39) |
I144L |
|
Het |
| Rab11fip5 |
A |
G |
6: 85,317,892 (GRCm39) |
V999A |
probably benign |
Het |
| Serpinb6b |
TTGTTTCTGT |
TTGT |
13: 33,162,139 (GRCm39) |
|
probably benign |
Het |
| Shisa6 |
A |
G |
11: 66,110,853 (GRCm39) |
M296T |
probably benign |
Het |
| Slc18a1 |
T |
A |
8: 69,491,533 (GRCm39) |
T494S |
probably benign |
Het |
| Slc22a29 |
T |
G |
19: 8,146,669 (GRCm39) |
I378L |
probably benign |
Het |
| Slc23a2 |
C |
T |
2: 131,920,332 (GRCm39) |
|
probably null |
Het |
| Slc2a7 |
G |
T |
4: 150,243,001 (GRCm39) |
R274L |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,058,911 (GRCm39) |
T1949A |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,221,866 (GRCm39) |
V3339A |
unknown |
Het |
| Tcp10a |
G |
A |
17: 7,593,935 (GRCm39) |
D87N |
probably benign |
Het |
| Tgm5 |
T |
G |
2: 120,877,270 (GRCm39) |
Q638P |
probably damaging |
Het |
| Tmem145 |
A |
G |
7: 25,014,265 (GRCm39) |
T460A |
possibly damaging |
Het |
| Ttc3 |
A |
T |
16: 94,185,208 (GRCm39) |
M50L |
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,854,629 (GRCm39) |
S708P |
probably benign |
Het |
| Vmn1r217 |
T |
A |
13: 23,298,876 (GRCm39) |
T9S |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,373 (GRCm39) |
Y272C |
|
Het |
| Vmn1r75 |
G |
T |
7: 11,614,513 (GRCm39) |
A82S |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,678,918 (GRCm39) |
R769* |
probably null |
Het |
| Vps13b |
C |
A |
15: 35,448,793 (GRCm39) |
A589E |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,898,249 (GRCm39) |
R304W |
|
Het |
| Vps41 |
A |
G |
13: 19,011,775 (GRCm39) |
E294G |
probably benign |
Het |
| Ylpm1 |
T |
A |
12: 85,104,052 (GRCm39) |
D2022E |
|
Het |
| Zfp433 |
T |
A |
10: 81,555,724 (GRCm39) |
C75* |
probably null |
Het |
| Zyg11a |
A |
T |
4: 108,039,009 (GRCm39) |
S737T |
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 |
|
|
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 |
|
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 |
|
|
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'- AACATACACTTCAGCAGGTCTTTG -3'
(R):5'- TGAATTAGCAGTGTGGCTCAG -3'
Sequencing Primer
(F):5'- GGTGACATCTGGCAGTCTAATAC -3'
(R):5'- CTCTTTCCTTGGTGAGTAAGCAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation