Incidental Mutation 'IGL03238:Donson'
| ID |
414177 |
| 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 # |
IGL03238
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
91473696-91485658 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 91478134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 22
(Q22*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023682]
[ENSMUST00000114031]
[ENSMUST00000114037]
[ENSMUST00000117159]
[ENSMUST00000117633]
[ENSMUST00000122302]
[ENSMUST00000133942]
[ENSMUST00000138560]
[ENSMUST00000145833]
[ENSMUST00000139324]
[ENSMUST00000136699]
[ENSMUST00000144461]
[ENSMUST00000140312]
[ENSMUST00000159295]
|
| AlphaFold |
Q9QXP4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023682
AA Change: Q486*
|
| SMART Domains |
Protein: ENSMUSP00000023682
Gene: ENSMUSG00000022960
AA Change: Q486*
| 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: ENSMUST00000114031
|
| SMART Domains |
Protein: ENSMUSP00000109665
Gene: ENSMUSG00000022960
| 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 |
probably benign
Transcript: ENSMUST00000117159
|
| SMART Domains |
Protein: ENSMUSP00000113220
Gene: ENSMUSG00000022960
| 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 |
probably null
Transcript: ENSMUST00000133942
AA Change: Q274*
|
| SMART Domains |
Protein: ENSMUSP00000121386
Gene: ENSMUSG00000022960
AA Change: Q274*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
128 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000138560
AA Change: Q456*
|
| SMART Domains |
Protein: ENSMUSP00000121591
Gene: ENSMUSG00000022960
AA Change: Q456*
| 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 |
noncoding transcript
Transcript: ENSMUST00000151503
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146079
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145235
|
| 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: ENSMUST00000136699
|
| 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 |
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: 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000232177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232108
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231459
AA Change: Q22*
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
C |
3: 59,932,339 (GRCm39) |
T285P |
probably benign |
Het |
| Abcf1 |
T |
C |
17: 36,274,215 (GRCm39) |
K186E |
probably damaging |
Het |
| Adam3 |
T |
C |
8: 25,177,981 (GRCm39) |
|
probably null |
Het |
| Art1 |
T |
C |
7: 101,759,956 (GRCm39) |
V85A |
possibly damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,394,859 (GRCm39) |
H250R |
probably benign |
Het |
| Cyp3a13 |
T |
A |
5: 137,897,151 (GRCm39) |
I388F |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,073,633 (GRCm39) |
V1425M |
probably damaging |
Het |
| Eif2b2 |
A |
G |
12: 85,270,173 (GRCm39) |
T238A |
probably benign |
Het |
| Emc2 |
T |
A |
15: 43,371,249 (GRCm39) |
|
probably null |
Het |
| Fkbp4 |
A |
T |
6: 128,411,720 (GRCm39) |
V123E |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,563,682 (GRCm39) |
M275K |
possibly damaging |
Het |
| Gcat |
T |
A |
15: 78,920,210 (GRCm39) |
|
probably benign |
Het |
| Gemin2 |
G |
A |
12: 59,063,748 (GRCm39) |
|
probably benign |
Het |
| Ilf3 |
T |
A |
9: 21,303,646 (GRCm39) |
V169E |
probably damaging |
Het |
| Klra17 |
T |
C |
6: 129,845,773 (GRCm39) |
H147R |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,830,367 (GRCm39) |
I1880T |
probably benign |
Het |
| Lzts1 |
T |
C |
8: 69,591,446 (GRCm39) |
D234G |
probably damaging |
Het |
| Map3k4 |
G |
A |
17: 12,490,045 (GRCm39) |
P462L |
probably benign |
Het |
| Marchf6 |
C |
A |
15: 31,462,087 (GRCm39) |
|
probably benign |
Het |
| Mcm6 |
A |
T |
1: 128,283,257 (GRCm39) |
F83I |
probably benign |
Het |
| Mtpn |
A |
G |
6: 35,499,708 (GRCm39) |
L32P |
probably damaging |
Het |
| Mybpc3 |
A |
T |
2: 90,962,004 (GRCm39) |
I841F |
probably damaging |
Het |
| Ndst2 |
G |
T |
14: 20,778,572 (GRCm39) |
H399N |
probably damaging |
Het |
| Npat |
G |
T |
9: 53,481,726 (GRCm39) |
V1145F |
probably damaging |
Het |
| Or51b6 |
G |
A |
7: 103,555,717 (GRCm39) |
A21T |
probably benign |
Het |
| P2ry1 |
T |
A |
3: 60,911,916 (GRCm39) |
S352T |
probably damaging |
Het |
| Plaa |
T |
C |
4: 94,472,133 (GRCm39) |
T326A |
probably benign |
Het |
| Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
| Prb1b |
T |
A |
6: 132,289,308 (GRCm39) |
Q172L |
unknown |
Het |
| Setd1a |
C |
T |
7: 127,384,718 (GRCm39) |
T523I |
possibly damaging |
Het |
| Sgcz |
C |
T |
8: 38,030,294 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
T |
C |
18: 58,047,306 (GRCm39) |
Y740H |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,690,985 (GRCm39) |
C745R |
probably damaging |
Het |
| Tmem101 |
A |
T |
11: 102,046,611 (GRCm39) |
L86Q |
probably damaging |
Het |
| Tmtc3 |
A |
C |
10: 100,313,702 (GRCm39) |
F57V |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,594,771 (GRCm39) |
K778R |
possibly damaging |
Het |
| Washc5 |
G |
A |
15: 59,218,691 (GRCm39) |
T692M |
probably damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,309,685 (GRCm39) |
V379D |
probably damaging |
Het |
| Zfp142 |
G |
T |
1: 74,615,437 (GRCm39) |
R459S |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,231,553 (GRCm39) |
V199A |
probably damaging |
Het |
|
| Other mutations in Donson |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00930:Donson
|
APN |
16 |
91,479,479 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02458:Donson
|
APN |
16 |
91,478,064 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2016-08-02 |
Incidental Mutation