Incidental Mutation 'R6964:Donson'
| ID |
541912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Donson
|
| Ensembl Gene |
ENSMUSG00000022960 |
| Gene Name |
downstream neighbor of SON |
| Synonyms |
1110025J21Rik, ORF60, Donson |
| MMRRC Submission |
045074-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R6964 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
91473696-91485658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91478107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 465
(Y465H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023682]
[ENSMUST00000114031]
[ENSMUST00000114037]
[ENSMUST00000117159]
[ENSMUST00000117633]
[ENSMUST00000122302]
[ENSMUST00000133942]
[ENSMUST00000136699]
[ENSMUST00000138560]
[ENSMUST00000139324]
[ENSMUST00000140312]
[ENSMUST00000144461]
[ENSMUST00000145833]
[ENSMUST00000159295]
|
| AlphaFold |
Q9QXP4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023682
AA Change: Y495H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000023682
Gene: ENSMUSG00000022960
AA Change: Y495H
| 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 |
silent
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 |
probably benign
Transcript: ENSMUST00000133942
AA Change: Y283H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000121386
Gene: ENSMUSG00000022960
AA Change: Y283H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
128 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136699
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138560
AA Change: Y465H
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000121591
Gene: ENSMUSG00000022960
AA Change: Y465H
| 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: 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: 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: 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: ENSMUST00000145833
|
| 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 |
|
| Meta Mutation Damage Score |
0.3017 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
A |
T |
16: 97,866,959 (GRCm39) |
Y334* |
probably null |
Het |
| Abcc2 |
A |
C |
19: 43,786,515 (GRCm39) |
I116L |
probably benign |
Het |
| Adamts17 |
T |
A |
7: 66,559,148 (GRCm39) |
Y313N |
possibly damaging |
Het |
| Adamts17 |
A |
G |
7: 66,654,101 (GRCm39) |
T444A |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,075,091 (GRCm39) |
I153V |
probably damaging |
Het |
| Ambra1 |
C |
T |
2: 91,747,761 (GRCm39) |
Q1046* |
probably null |
Het |
| Ap1g2 |
A |
T |
14: 55,336,722 (GRCm39) |
V750D |
possibly damaging |
Het |
| Bcl7a |
T |
C |
5: 123,507,519 (GRCm39) |
|
probably null |
Het |
| C4bp |
A |
T |
1: 130,585,009 (GRCm39) |
L9Q |
probably damaging |
Het |
| Cadps2 |
A |
C |
6: 23,583,458 (GRCm39) |
V344G |
probably damaging |
Het |
| Car7 |
A |
G |
8: 105,270,213 (GRCm39) |
D15G |
possibly damaging |
Het |
| Cep126 |
G |
C |
9: 8,112,101 (GRCm39) |
H157Q |
probably null |
Het |
| Chst11 |
C |
T |
10: 83,027,215 (GRCm39) |
T214I |
probably damaging |
Het |
| Cntrob |
G |
A |
11: 69,200,317 (GRCm39) |
R526* |
probably null |
Het |
| Cul1 |
A |
G |
6: 47,493,443 (GRCm39) |
T445A |
probably benign |
Het |
| Dclre1c |
T |
C |
2: 3,454,206 (GRCm39) |
V363A |
possibly damaging |
Het |
| Dock10 |
T |
A |
1: 80,481,365 (GRCm39) |
|
probably benign |
Het |
| Eif3e |
G |
A |
15: 43,135,685 (GRCm39) |
A118V |
probably benign |
Het |
| Fam47e |
A |
T |
5: 92,713,911 (GRCm39) |
Q180L |
probably damaging |
Het |
| Fat1 |
T |
G |
8: 45,496,982 (GRCm39) |
C4156G |
probably damaging |
Het |
| Fermt2 |
A |
T |
14: 45,702,599 (GRCm39) |
I441K |
probably damaging |
Het |
| Frmd4b |
C |
T |
6: 97,282,158 (GRCm39) |
R510Q |
probably damaging |
Het |
| Fscn1 |
C |
T |
5: 142,946,415 (GRCm39) |
A71V |
probably damaging |
Het |
| Gfap |
G |
A |
11: 102,787,783 (GRCm39) |
A54V |
possibly damaging |
Het |
| Gjc3 |
C |
T |
5: 137,955,759 (GRCm39) |
M175I |
probably benign |
Het |
| Gm10645 |
C |
T |
8: 83,892,581 (GRCm39) |
|
probably benign |
Het |
| Haus5 |
G |
A |
7: 30,357,040 (GRCm39) |
P464S |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,872,221 (GRCm39) |
I2584F |
probably damaging |
Het |
| Mak |
T |
A |
13: 41,186,067 (GRCm39) |
I534L |
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,819,777 (GRCm39) |
D159G |
probably benign |
Het |
| Mcat |
A |
G |
15: 83,432,132 (GRCm39) |
|
probably benign |
Het |
| Meltf |
A |
G |
16: 31,698,980 (GRCm39) |
D30G |
probably benign |
Het |
| Ntng2 |
T |
A |
2: 29,087,041 (GRCm39) |
Y452F |
probably benign |
Het |
| Or10ag60 |
T |
C |
2: 87,437,957 (GRCm39) |
L75P |
probably damaging |
Het |
| Or4a72 |
T |
A |
2: 89,405,333 (GRCm39) |
I246F |
probably benign |
Het |
| Or5b118 |
T |
A |
19: 13,448,725 (GRCm39) |
Y130* |
probably null |
Het |
| Or5p53 |
A |
T |
7: 107,532,966 (GRCm39) |
I80L |
probably benign |
Het |
| Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
| Pianp |
T |
A |
6: 124,976,353 (GRCm39) |
V54D |
possibly damaging |
Het |
| Ptprn |
T |
C |
1: 75,237,293 (GRCm39) |
D103G |
possibly damaging |
Het |
| Rhcg |
A |
G |
7: 79,250,279 (GRCm39) |
V268A |
probably benign |
Het |
| Rhoj |
T |
A |
12: 75,422,163 (GRCm39) |
Y74N |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,225,697 (GRCm39) |
S235P |
probably benign |
Het |
| Snx13 |
A |
C |
12: 35,169,788 (GRCm39) |
T578P |
possibly damaging |
Het |
| Star |
T |
A |
8: 26,301,851 (GRCm39) |
H227Q |
probably benign |
Het |
| Stau2 |
A |
C |
1: 16,460,229 (GRCm39) |
M204R |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,025,568 (GRCm39) |
Y43C |
probably damaging |
Het |
| Syt8 |
A |
G |
7: 141,993,158 (GRCm39) |
E21G |
probably benign |
Het |
| Tacr3 |
T |
C |
3: 134,535,500 (GRCm39) |
V156A |
probably damaging |
Het |
| Tmem106b |
C |
T |
6: 13,082,422 (GRCm39) |
T199M |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,835,373 (GRCm39) |
T1583A |
probably damaging |
Het |
| Tom1 |
G |
A |
8: 75,778,593 (GRCm39) |
V87I |
probably null |
Het |
| Treml4 |
G |
T |
17: 48,579,847 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,544,457 (GRCm39) |
K32843R |
probably damaging |
Het |
| Wdr95 |
T |
G |
5: 149,505,315 (GRCm39) |
C223W |
probably damaging |
Het |
| Wipi1 |
C |
T |
11: 109,494,590 (GRCm39) |
R81Q |
probably benign |
Het |
| Zc3h7a |
G |
A |
16: 10,967,088 (GRCm39) |
T568I |
probably benign |
Het |
| Zfp287 |
A |
T |
11: 62,615,643 (GRCm39) |
I228N |
probably damaging |
Het |
| Zfp606 |
T |
A |
7: 12,223,519 (GRCm39) |
V10E |
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 |
|
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 |
|
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'- GCTGGGGTAAATCATGTTTCC -3'
(R):5'- TCGCATTCCCAGGAGTTTTGG -3'
Sequencing Primer
(F):5'- CTGGGGTAAATCATGTTTCCATAAAC -3'
(R):5'- GGTGACATGAGTTATATCAAATCCC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation