Incidental Mutation 'R4191:Donson'
| ID |
371073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Donson
|
| Ensembl Gene |
ENSMUSG00000022960 |
| Gene Name |
downstream neighbor of SON |
| Synonyms |
1110025J21Rik, ORF60, Donson |
| MMRRC Submission |
041022-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R4191 (G1)
|
| Quality Score |
71 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
91473696-91485658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 91485480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 41
(A41S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023682]
[ENSMUST00000073466]
[ENSMUST00000114031]
[ENSMUST00000117159]
[ENSMUST00000117644]
[ENSMUST00000122254]
[ENSMUST00000138560]
[ENSMUST00000139324]
[ENSMUST00000144461]
[ENSMUST00000159295]
[ENSMUST00000145833]
[ENSMUST00000133942]
[ENSMUST00000124282]
[ENSMUST00000136699]
|
| AlphaFold |
Q9QXP4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023682
AA Change: A41S
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023682
Gene: ENSMUSG00000022960
AA Change: A41S
| 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: ENSMUST00000073466
|
| SMART Domains |
Protein: ENSMUSP00000073171
Gene: ENSMUSG00000058240
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
30 |
142 |
3.7e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114031
AA Change: A41S
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109665
Gene: ENSMUSG00000022960
AA Change: A41S
| 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: ENSMUST00000117159
AA Change: A41S
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113220
Gene: ENSMUSG00000022960
AA Change: A41S
| 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: ENSMUST00000117644
|
| SMART Domains |
Protein: ENSMUSP00000113227
Gene: ENSMUSG00000058240
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_zinc_N
|
141 |
212 |
1.3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122254
|
| SMART Domains |
Protein: ENSMUSP00000112734
Gene: ENSMUSG00000058240
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PKS_ER
|
71 |
150 |
1e-9 |
BLAST |
|
SCOP:d1heta1
|
73 |
137 |
4e-12 |
SMART |
|
low complexity region
|
172 |
190 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123893
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138560
AA Change: A38S
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000121591
Gene: ENSMUSG00000022960
AA Change: A38S
| 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 |
possibly damaging
Transcript: ENSMUST00000139324
AA Change: A41S
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120957
Gene: ENSMUSG00000022960
AA Change: A41S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
72 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144461
AA Change: A41S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123648
Gene: ENSMUSG00000022960
AA Change: A41S
| 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: ENSMUST00000140199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156242
|
| 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: ENSMUST00000232491
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145833
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133942
|
| SMART Domains |
Protein: ENSMUSP00000121386
Gene: ENSMUSG00000022960
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
128 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124282
|
| SMART Domains |
Protein: ENSMUSP00000115686
Gene: ENSMUSG00000058240
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
30 |
150 |
1.7e-8 |
PFAM |
|
Pfam:ADH_zinc_N
|
156 |
227 |
3.9e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144472
|
| SMART Domains |
Protein: ENSMUSP00000116833
Gene: ENSMUSG00000058240
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PKS_ER
|
2 |
152 |
8e-13 |
BLAST |
|
PDB:3SLK|B
|
2 |
152 |
3e-10 |
PDB |
|
SCOP:d1heta1
|
24 |
103 |
1e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136699
|
| Meta Mutation Damage Score |
0.1005 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
95% (57/60) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,207,728 (GRCm39) |
T22A |
probably damaging |
Het |
| Ache |
A |
T |
5: 137,289,334 (GRCm39) |
I347F |
probably damaging |
Het |
| Adgrl1 |
C |
G |
8: 84,665,569 (GRCm39) |
R1464G |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,377,380 (GRCm39) |
D422G |
probably damaging |
Het |
| Cdx1 |
C |
T |
18: 61,153,510 (GRCm39) |
S176N |
possibly damaging |
Het |
| Cimip3 |
C |
T |
17: 47,747,562 (GRCm39) |
R61H |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,710,667 (GRCm39) |
D1536G |
probably damaging |
Het |
| Cyct |
G |
T |
2: 76,184,535 (GRCm39) |
P72Q |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
| Disp1 |
G |
T |
1: 182,870,737 (GRCm39) |
A561E |
probably damaging |
Het |
| Gldc |
T |
C |
19: 30,123,058 (GRCm39) |
E279G |
probably damaging |
Het |
| Gpr160 |
A |
T |
3: 30,950,863 (GRCm39) |
I312F |
possibly damaging |
Het |
| H2-Eb2 |
G |
A |
17: 34,563,529 (GRCm39) |
|
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,031,433 (GRCm39) |
Q457R |
probably benign |
Het |
| Irf2bp2 |
T |
C |
8: 127,320,084 (GRCm39) |
D31G |
probably damaging |
Het |
| Klrb1 |
T |
A |
6: 128,690,597 (GRCm39) |
K42* |
probably null |
Het |
| Lrrfip1 |
A |
T |
1: 91,038,121 (GRCm39) |
E446D |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Maml3 |
A |
G |
3: 51,597,390 (GRCm39) |
V1098A |
probably benign |
Het |
| Mrgpra4 |
T |
C |
7: 47,630,867 (GRCm39) |
S245G |
probably benign |
Het |
| Mybbp1a |
A |
G |
11: 72,342,113 (GRCm39) |
E1283G |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,068,226 (GRCm39) |
S285G |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,475,319 (GRCm39) |
D1876G |
probably benign |
Het |
| Nr4a2 |
T |
C |
2: 57,002,391 (GRCm39) |
S21G |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,894,313 (GRCm39) |
Q9L |
probably benign |
Het |
| Or2y14 |
T |
A |
11: 49,404,639 (GRCm39) |
M58K |
probably damaging |
Het |
| Or7g25 |
A |
G |
9: 19,160,383 (GRCm39) |
V104A |
probably benign |
Het |
| Or8c11 |
T |
A |
9: 38,289,648 (GRCm39) |
M157K |
probably damaging |
Het |
| Or8k18 |
C |
A |
2: 86,085,666 (GRCm39) |
V124L |
probably benign |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,675,056 (GRCm39) |
S476P |
probably damaging |
Het |
| Pex10 |
T |
C |
4: 155,152,362 (GRCm39) |
|
probably null |
Het |
| Pgf |
T |
C |
12: 85,218,561 (GRCm39) |
D63G |
probably benign |
Het |
| Piwil4 |
A |
G |
9: 14,626,296 (GRCm39) |
S465P |
probably damaging |
Het |
| Plcb1 |
A |
C |
2: 135,187,010 (GRCm39) |
H759P |
probably damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,254,260 (GRCm39) |
M432L |
probably benign |
Het |
| Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
| Rmnd1 |
A |
T |
10: 4,360,809 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
T |
C |
1: 143,646,524 (GRCm39) |
I74V |
probably benign |
Het |
| Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,046,601 (GRCm39) |
C3510Y |
possibly damaging |
Het |
| Tanc1 |
A |
G |
2: 59,669,357 (GRCm39) |
I1274V |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,074,263 (GRCm39) |
E1874G |
probably damaging |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,009 (GRCm39) |
T298A |
probably damaging |
Het |
| Tlk1 |
G |
A |
2: 70,555,891 (GRCm39) |
R423C |
probably damaging |
Het |
| Trp53rkb |
T |
C |
2: 166,637,395 (GRCm39) |
I117T |
probably damaging |
Het |
| Ttll9 |
A |
G |
2: 152,844,927 (GRCm39) |
T432A |
probably benign |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Zfp112 |
A |
G |
7: 23,825,568 (GRCm39) |
D512G |
probably benign |
Het |
| Zfyve19 |
A |
G |
2: 119,041,312 (GRCm39) |
K76R |
possibly 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTTACAGGAGAGGGCAGC -3'
(R):5'- GCCGAGTTGGTACTGTTAATCCC -3'
Sequencing Primer
(F):5'- AGCTCAGGACATCAGCCTG -3'
(R):5'- ACCGGGAAATCTGTTGGGC -3'
|
| Posted On |
2016-02-12 |
Incidental Mutation