Incidental Mutation 'IGL00930:Donson'
ID |
29149 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Donson
|
Ensembl Gene |
ENSMUSG00000022960 |
Gene Name |
downstream neighbor of SON |
Synonyms |
1110025J21Rik, ORF60, Donson |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
IGL00930
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
91473696-91485658 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91479479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 323
(E323G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121591
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023682]
[ENSMUST00000114031]
[ENSMUST00000114037]
[ENSMUST00000117159]
[ENSMUST00000117633]
[ENSMUST00000122302]
[ENSMUST00000138560]
[ENSMUST00000133942]
[ENSMUST00000144461]
[ENSMUST00000136699]
[ENSMUST00000145833]
[ENSMUST00000139324]
[ENSMUST00000159295]
[ENSMUST00000140312]
|
AlphaFold |
Q9QXP4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023682
AA Change: E353G
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000023682 Gene: ENSMUSG00000022960 AA Change: E353G
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
55 |
N/A |
INTRINSIC |
low complexity region
|
58 |
72 |
N/A |
INTRINSIC |
low complexity region
|
340 |
361 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114031
AA Change: E353G
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000109665 Gene: ENSMUSG00000022960 AA Change: E353G
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
55 |
N/A |
INTRINSIC |
low complexity region
|
58 |
72 |
N/A |
INTRINSIC |
low complexity region
|
340 |
361 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114037
|
SMART Domains |
Protein: ENSMUSP00000109671 Gene: ENSMUSG00000022961
Domain | Start | End | E-Value | Type |
coiled coil region
|
106 |
132 |
N/A |
INTRINSIC |
internal_repeat_1
|
155 |
350 |
1.71e-7 |
PROSPERO |
internal_repeat_2
|
214 |
362 |
7.05e-6 |
PROSPERO |
low complexity region
|
391 |
403 |
N/A |
INTRINSIC |
low complexity region
|
459 |
469 |
N/A |
INTRINSIC |
internal_repeat_1
|
507 |
750 |
1.71e-7 |
PROSPERO |
low complexity region
|
975 |
1021 |
N/A |
INTRINSIC |
low complexity region
|
1124 |
1135 |
N/A |
INTRINSIC |
low complexity region
|
1141 |
1172 |
N/A |
INTRINSIC |
internal_repeat_2
|
1208 |
1347 |
7.05e-6 |
PROSPERO |
low complexity region
|
1354 |
1376 |
N/A |
INTRINSIC |
low complexity region
|
1386 |
1407 |
N/A |
INTRINSIC |
low complexity region
|
1805 |
1811 |
N/A |
INTRINSIC |
low complexity region
|
1838 |
2067 |
N/A |
INTRINSIC |
low complexity region
|
2080 |
2091 |
N/A |
INTRINSIC |
low complexity region
|
2094 |
2105 |
N/A |
INTRINSIC |
low complexity region
|
2149 |
2155 |
N/A |
INTRINSIC |
G_patch
|
2321 |
2367 |
1.15e-17 |
SMART |
Pfam:DND1_DSRM
|
2388 |
2442 |
5.7e-15 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117159
AA Change: E353G
PolyPhen 2
Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113220 Gene: ENSMUSG00000022960 AA Change: E353G
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
55 |
N/A |
INTRINSIC |
low complexity region
|
58 |
72 |
N/A |
INTRINSIC |
low complexity region
|
340 |
361 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117633
|
SMART Domains |
Protein: ENSMUSP00000112453 Gene: ENSMUSG00000022961
Domain | Start | End | E-Value | Type |
coiled coil region
|
106 |
132 |
N/A |
INTRINSIC |
internal_repeat_1
|
155 |
350 |
1.59e-7 |
PROSPERO |
internal_repeat_2
|
214 |
362 |
6.63e-6 |
PROSPERO |
low complexity region
|
391 |
403 |
N/A |
INTRINSIC |
low complexity region
|
459 |
469 |
N/A |
INTRINSIC |
internal_repeat_1
|
507 |
750 |
1.59e-7 |
PROSPERO |
low complexity region
|
975 |
1021 |
N/A |
INTRINSIC |
low complexity region
|
1124 |
1135 |
N/A |
INTRINSIC |
low complexity region
|
1141 |
1172 |
N/A |
INTRINSIC |
internal_repeat_2
|
1208 |
1347 |
6.63e-6 |
PROSPERO |
low complexity region
|
1354 |
1376 |
N/A |
INTRINSIC |
low complexity region
|
1386 |
1407 |
N/A |
INTRINSIC |
low complexity region
|
1805 |
1811 |
N/A |
INTRINSIC |
Pfam:RSRP
|
1909 |
2216 |
1e-12 |
PFAM |
G_patch
|
2321 |
2367 |
1.15e-17 |
SMART |
DSRM
|
2390 |
2458 |
5.37e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122302
|
SMART Domains |
Protein: ENSMUSP00000113615 Gene: ENSMUSG00000022961
Domain | Start | End | E-Value | Type |
low complexity region
|
90 |
101 |
N/A |
INTRINSIC |
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
low complexity region
|
159 |
165 |
N/A |
INTRINSIC |
G_patch
|
331 |
377 |
1.15e-17 |
SMART |
Pfam:DND1_DSRM
|
398 |
452 |
7.9e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123893
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138560
AA Change: E323G
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000121591 Gene: ENSMUSG00000022960 AA Change: E323G
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
52 |
N/A |
INTRINSIC |
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
low complexity region
|
310 |
331 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133942
AA Change: E141G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000121386 Gene: ENSMUSG00000022960 AA Change: E141G
Domain | Start | End | E-Value | Type |
low complexity region
|
128 |
149 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145235
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147461
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146079
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144461
|
SMART Domains |
Protein: ENSMUSP00000123648 Gene: ENSMUSG00000022960
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
55 |
N/A |
INTRINSIC |
low complexity region
|
58 |
72 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136699
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145833
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139324
|
SMART Domains |
Protein: ENSMUSP00000120957 Gene: ENSMUSG00000022960
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
55 |
N/A |
INTRINSIC |
low complexity region
|
58 |
72 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159295
|
SMART Domains |
Protein: ENSMUSP00000125172 Gene: ENSMUSG00000116933
Domain | Start | End | E-Value | Type |
Pfam:OSCP
|
1 |
89 |
1.1e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147891
|
SMART Domains |
Protein: ENSMUSP00000122544 Gene: ENSMUSG00000022961
Domain | Start | End | E-Value | Type |
Pfam:RSRP
|
61 |
358 |
2.9e-13 |
PFAM |
low complexity region
|
466 |
477 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231425
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140312
|
SMART Domains |
Protein: ENSMUSP00000122320 Gene: ENSMUSG00000022961
Domain | Start | End | E-Value | Type |
coiled coil region
|
106 |
132 |
N/A |
INTRINSIC |
internal_repeat_1
|
155 |
350 |
2.93e-7 |
PROSPERO |
internal_repeat_2
|
214 |
362 |
1.1e-5 |
PROSPERO |
low complexity region
|
391 |
403 |
N/A |
INTRINSIC |
low complexity region
|
459 |
469 |
N/A |
INTRINSIC |
internal_repeat_1
|
507 |
750 |
2.93e-7 |
PROSPERO |
low complexity region
|
975 |
1021 |
N/A |
INTRINSIC |
low complexity region
|
1124 |
1135 |
N/A |
INTRINSIC |
low complexity region
|
1141 |
1172 |
N/A |
INTRINSIC |
internal_repeat_2
|
1208 |
1347 |
1.1e-5 |
PROSPERO |
low complexity region
|
1354 |
1376 |
N/A |
INTRINSIC |
low complexity region
|
1386 |
1407 |
N/A |
INTRINSIC |
low complexity region
|
1805 |
1811 |
N/A |
INTRINSIC |
low complexity region
|
1838 |
2067 |
N/A |
INTRINSIC |
low complexity region
|
2080 |
2091 |
N/A |
INTRINSIC |
low complexity region
|
2094 |
2105 |
N/A |
INTRINSIC |
low complexity region
|
2149 |
2155 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231459
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232177
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232108
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous knockout is early embryonic lethal. Heterozygous knockout causes no observable phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
T |
C |
7: 119,191,533 (GRCm39) |
S534P |
possibly damaging |
Het |
Adamts15 |
G |
A |
9: 30,813,349 (GRCm39) |
P939S |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,578,292 (GRCm39) |
S207P |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,805,181 (GRCm39) |
K747E |
probably damaging |
Het |
Dock5 |
G |
T |
14: 68,008,526 (GRCm39) |
N1457K |
probably damaging |
Het |
Epc1 |
T |
A |
18: 6,449,196 (GRCm39) |
M434L |
probably benign |
Het |
Fcer1a |
A |
G |
1: 173,050,100 (GRCm39) |
|
probably benign |
Het |
Hemgn |
A |
T |
4: 46,396,383 (GRCm39) |
C284* |
probably null |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Or7g34 |
A |
G |
9: 19,478,471 (GRCm39) |
S67P |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 74,466,530 (GRCm39) |
E1450K |
probably benign |
Het |
Pfpl |
A |
T |
19: 12,407,009 (GRCm39) |
H420L |
probably benign |
Het |
Pitpnm2 |
A |
G |
5: 124,259,726 (GRCm39) |
|
probably benign |
Het |
Pole2 |
A |
G |
12: 69,273,219 (GRCm39) |
|
probably benign |
Het |
Prmt3 |
T |
A |
7: 49,441,757 (GRCm39) |
Y245N |
probably damaging |
Het |
Rpl10a |
T |
C |
17: 28,547,981 (GRCm39) |
Y41H |
probably damaging |
Het |
Tpst1 |
A |
T |
5: 130,130,975 (GRCm39) |
K148N |
probably benign |
Het |
Vmn1r199 |
A |
G |
13: 22,567,029 (GRCm39) |
T108A |
possibly damaging |
Het |
Wdr7 |
T |
A |
18: 63,873,315 (GRCm39) |
C525* |
probably null |
Het |
Zfp646 |
A |
G |
7: 127,478,302 (GRCm39) |
T160A |
possibly damaging |
Het |
|
Other mutations in Donson |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02458:Donson
|
APN |
16 |
91,478,064 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03238:Donson
|
APN |
16 |
91,478,134 (GRCm39) |
nonsense |
probably null |
|
IGL02802:Donson
|
UTSW |
16 |
91,478,196 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0525:Donson
|
UTSW |
16 |
91,483,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R0831:Donson
|
UTSW |
16 |
91,480,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R3706:Donson
|
UTSW |
16 |
91,483,049 (GRCm39) |
unclassified |
probably benign |
|
R4191:Donson
|
UTSW |
16 |
91,485,480 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4746:Donson
|
UTSW |
16 |
91,479,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R4788:Donson
|
UTSW |
16 |
91,484,721 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4947:Donson
|
UTSW |
16 |
91,479,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R5171:Donson
|
UTSW |
16 |
91,478,181 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5439:Donson
|
UTSW |
16 |
91,476,814 (GRCm39) |
missense |
probably damaging |
0.99 |
R5739:Donson
|
UTSW |
16 |
91,478,117 (GRCm39) |
splice site |
probably null |
|
R5809:Donson
|
UTSW |
16 |
91,484,738 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6964:Donson
|
UTSW |
16 |
91,478,107 (GRCm39) |
missense |
probably benign |
0.11 |
R7022:Donson
|
UTSW |
16 |
91,478,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R7110:Donson
|
UTSW |
16 |
91,479,009 (GRCm39) |
nonsense |
probably null |
|
R7326:Donson
|
UTSW |
16 |
91,485,599 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R7826:Donson
|
UTSW |
16 |
91,485,344 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8354:Donson
|
UTSW |
16 |
91,480,685 (GRCm39) |
missense |
possibly damaging |
0.95 |
Z1177:Donson
|
UTSW |
16 |
91,485,360 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2013-04-17 |