Incidental Mutation 'R5439:Donson'
ID |
428554 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Donson
|
Ensembl Gene |
ENSMUSG00000022960 |
Gene Name |
downstream neighbor of SON |
Synonyms |
1110025J21Rik, ORF60, Donson |
MMRRC Submission |
043004-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R5439 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
91473696-91485658 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 91476814 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 549
(V549E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023682
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023682]
[ENSMUST00000114031]
[ENSMUST00000114037]
[ENSMUST00000117159]
[ENSMUST00000117633]
[ENSMUST00000122302]
[ENSMUST00000133942]
[ENSMUST00000138560]
[ENSMUST00000145833]
[ENSMUST00000159295]
[ENSMUST00000139324]
[ENSMUST00000140312]
[ENSMUST00000136699]
[ENSMUST00000144461]
|
AlphaFold |
Q9QXP4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023682
AA Change: V549E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000023682 Gene: ENSMUSG00000022960 AA Change: V549E
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: V478E
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109665 Gene: ENSMUSG00000022960 AA Change: V478E
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 damaging
Transcript: ENSMUST00000117159
AA Change: W501R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113220 Gene: ENSMUSG00000022960 AA Change: W501R
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 damaging
Transcript: ENSMUST00000133942
AA Change: V337E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000121386 Gene: ENSMUSG00000022960 AA Change: V337E
Domain | Start | End | E-Value | Type |
low complexity region
|
128 |
149 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138560
AA Change: V519E
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000121591 Gene: ENSMUSG00000022960 AA Change: V519E
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: ENSMUST00000145235
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147461
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146079
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151503
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145833
|
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: 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: 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: 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 |
unknown
Transcript: ENSMUST00000231459
AA Change: V85E
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232108
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232177
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
A |
T |
4: 144,504,683 (GRCm39) |
I156N |
probably damaging |
Het |
Abca1 |
C |
A |
4: 53,042,381 (GRCm39) |
R1897L |
possibly damaging |
Het |
Ablim2 |
A |
G |
5: 36,015,170 (GRCm39) |
K461E |
probably damaging |
Het |
Acss3 |
A |
T |
10: 106,773,008 (GRCm39) |
Y659* |
probably null |
Het |
Actr8 |
T |
G |
14: 29,708,952 (GRCm39) |
L253R |
probably damaging |
Het |
Arid4b |
A |
G |
13: 14,362,281 (GRCm39) |
K915R |
probably damaging |
Het |
C3 |
T |
C |
17: 57,511,502 (GRCm39) |
E1560G |
probably benign |
Het |
Cacna1c |
A |
T |
6: 118,631,333 (GRCm39) |
I1013N |
probably damaging |
Het |
Cep83 |
G |
A |
10: 94,625,600 (GRCm39) |
R670H |
probably benign |
Het |
Col19a1 |
T |
A |
1: 24,332,193 (GRCm39) |
D870V |
probably damaging |
Het |
Ddr2 |
A |
G |
1: 169,832,298 (GRCm39) |
V164A |
possibly damaging |
Het |
Dnaaf10 |
A |
G |
11: 17,162,031 (GRCm39) |
D23G |
possibly damaging |
Het |
Egflam |
C |
T |
15: 7,254,144 (GRCm39) |
G824R |
probably damaging |
Het |
Extl3 |
A |
G |
14: 65,292,075 (GRCm39) |
F916S |
probably damaging |
Het |
Fam110c |
A |
G |
12: 31,124,406 (GRCm39) |
M123V |
unknown |
Het |
G3bp1 |
A |
T |
11: 55,388,813 (GRCm39) |
I342F |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,720,870 (GRCm39) |
N409D |
probably benign |
Het |
Grin2b |
C |
T |
6: 135,713,304 (GRCm39) |
G859D |
probably damaging |
Het |
Hspb1 |
A |
T |
5: 135,918,186 (GRCm39) |
T178S |
probably benign |
Het |
Iigp1 |
A |
G |
18: 60,523,329 (GRCm39) |
Y149C |
probably damaging |
Het |
Il22 |
G |
T |
10: 118,045,366 (GRCm39) |
G159* |
probably null |
Het |
Jcad |
T |
C |
18: 4,675,790 (GRCm39) |
F1184S |
probably damaging |
Het |
Kcnj2 |
G |
T |
11: 110,963,057 (GRCm39) |
V150L |
probably damaging |
Het |
Kifc1 |
C |
T |
17: 34,105,639 (GRCm39) |
R56Q |
probably damaging |
Het |
Lce1h |
A |
G |
3: 92,671,027 (GRCm39) |
S42P |
unknown |
Het |
Lrp4 |
C |
A |
2: 91,327,418 (GRCm39) |
D1471E |
probably benign |
Het |
Lrrc3 |
C |
A |
10: 77,737,299 (GRCm39) |
V46L |
probably benign |
Het |
Mcf2l |
G |
A |
8: 12,976,646 (GRCm39) |
A2T |
possibly damaging |
Het |
Med12l |
G |
A |
3: 59,170,634 (GRCm39) |
C1673Y |
probably null |
Het |
Nckap1 |
T |
C |
2: 80,343,034 (GRCm39) |
E955G |
possibly damaging |
Het |
Ndufs3 |
T |
A |
2: 90,732,690 (GRCm39) |
|
probably null |
Het |
Nkx6-1 |
A |
G |
5: 101,809,698 (GRCm39) |
|
probably null |
Het |
Obscn |
C |
A |
11: 58,890,954 (GRCm39) |
E1713* |
probably null |
Het |
Or10ak12 |
G |
A |
4: 118,666,560 (GRCm39) |
T167I |
possibly damaging |
Het |
Or10g1b |
A |
G |
14: 52,627,582 (GRCm39) |
F216S |
probably damaging |
Het |
Or10n1 |
A |
G |
9: 39,524,916 (GRCm39) |
T18A |
probably benign |
Het |
Or2n1 |
T |
A |
17: 38,486,917 (GRCm39) |
|
probably null |
Het |
Or6n1 |
A |
G |
1: 173,917,541 (GRCm39) |
R312G |
probably benign |
Het |
Or7e165 |
A |
C |
9: 19,695,161 (GRCm39) |
H244P |
probably damaging |
Het |
Or8c15 |
A |
G |
9: 38,121,050 (GRCm39) |
T234A |
probably benign |
Het |
Osbpl5 |
A |
G |
7: 143,295,433 (GRCm39) |
F10L |
possibly damaging |
Het |
Plvap |
A |
C |
8: 71,964,095 (GRCm39) |
I89S |
probably damaging |
Het |
Ppp2r2a |
A |
G |
14: 67,259,772 (GRCm39) |
V308A |
possibly damaging |
Het |
Ppp2r5e |
T |
C |
12: 75,540,250 (GRCm39) |
S132G |
probably benign |
Het |
Pum3 |
G |
T |
19: 27,389,659 (GRCm39) |
Q398K |
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,184,430 (GRCm39) |
T1526A |
probably benign |
Het |
Sh3tc2 |
T |
A |
18: 62,122,704 (GRCm39) |
Y488* |
probably null |
Het |
Spmip7 |
A |
T |
11: 11,440,244 (GRCm39) |
R8S |
possibly damaging |
Het |
Sqle |
A |
G |
15: 59,202,753 (GRCm39) |
Y537C |
probably benign |
Het |
Sult2a8 |
T |
G |
7: 14,159,439 (GRCm39) |
K60T |
probably damaging |
Het |
Tex15 |
T |
C |
8: 34,064,199 (GRCm39) |
S1210P |
possibly damaging |
Het |
Thumpd3 |
A |
G |
6: 113,043,825 (GRCm39) |
|
silent |
Het |
Timeless |
A |
G |
10: 128,077,604 (GRCm39) |
D228G |
probably damaging |
Het |
Trim31 |
A |
T |
17: 37,216,797 (GRCm39) |
|
probably null |
Het |
Ttc39c |
A |
T |
18: 12,828,428 (GRCm39) |
D196V |
possibly damaging |
Het |
Wbp4 |
C |
A |
14: 79,709,837 (GRCm39) |
V133L |
possibly damaging |
Het |
Zfp354c |
G |
T |
11: 50,706,597 (GRCm39) |
D159E |
probably benign |
Het |
Zfp940 |
C |
A |
7: 29,544,858 (GRCm39) |
D350Y |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAAGCTCCTTGCATCTTCATC -3'
(R):5'- TCTTCTAGCTATGATTGACTGAGCC -3'
Sequencing Primer
(F):5'- TTAAAAGCCAGGGGCCTA -3'
(R):5'- GTTAAGAACACTGACTGCTGCTC -3'
|
Posted On |
2016-09-01 |