Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Donson'

294496

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) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

91473696-91485658 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91478064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 461 (W461R)

Ref Sequence

ENSEMBL: ENSMUSP00000113220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023682] [ENSMUST00000114031] [ENSMUST00000114037] [ENSMUST00000117159] [ENSMUST00000117633] [ENSMUST00000122302] [ENSMUST00000138560] [ENSMUST00000133942] [ENSMUST00000144461] [ENSMUST00000145833] [ENSMUST00000139324] [ENSMUST00000136699] [ENSMUST00000159295] [ENSMUST00000140312]

AlphaFold

Q9QXP4

Predicted Effect

probably benign
Transcript: ENSMUST00000023682
AA Change: L509Q

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000023682
Gene: ENSMUSG00000022960
AA Change: L509Q

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 damaging
Transcript: ENSMUST00000117159
AA Change: W461R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113220
Gene: ENSMUSG00000022960
AA Change: W461R

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 benign
Transcript: ENSMUST00000138560
AA Change: L479Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000121591
Gene: ENSMUSG00000022960
AA Change: L479Q

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: ENSMUST00000133942
AA Change: L297Q

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121386
Gene: ENSMUSG00000022960
AA Change: L297Q

Domain	Start	End	E-Value	Type
low complexity region	128	149	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151503

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: 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: 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: 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: 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

unknown
Transcript: ENSMUST00000231459
AA Change: L45Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232177

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 41,206,844 (GRCm39)	I37L	probably benign	Het
Alpk1	A	G	3: 127,474,968 (GRCm39)		probably null	Het
Ankrd33	T	C	15: 101,014,488 (GRCm39)	F8L	probably damaging	Het
Avil	A	G	10: 126,852,222 (GRCm39)	K669R	probably benign	Het
Bcor	G	T	X: 11,914,749 (GRCm39)	L1165I	probably damaging	Het
C7	A	G	15: 5,088,871 (GRCm39)		probably benign	Het
Cc2d2a	A	G	5: 43,875,896 (GRCm39)	I958V	probably benign	Het
Cenpe	A	T	3: 134,935,869 (GRCm39)	K435*	probably null	Het
Chrna7	G	A	7: 62,755,842 (GRCm39)	L235F	probably damaging	Het
Col6a3	C	A	1: 90,706,919 (GRCm39)	V2065L	unknown	Het
Copb1	A	T	7: 113,846,020 (GRCm39)	N183K	probably benign	Het
Cpn2	G	A	16: 30,079,653 (GRCm39)	A16V	probably benign	Het
Cul1	A	G	6: 47,502,542 (GRCm39)	K769E	possibly damaging	Het
Deup1	C	T	9: 15,503,656 (GRCm39)	V302M	probably benign	Het
Dnah17	T	C	11: 117,927,176 (GRCm39)	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,004,431 (GRCm39)	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,657,487 (GRCm39)	L763*	probably null	Het
Dpp10	T	C	1: 123,269,418 (GRCm39)	I664V	probably benign	Het
Dusp8	T	A	7: 141,636,484 (GRCm39)	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422 (GRCm39)	L56Q	probably damaging	Het
Ecd	A	T	14: 20,374,545 (GRCm39)	S532T	probably benign	Het
Frg2f1	G	A	4: 119,388,154 (GRCm39)	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,335,735 (GRCm39)		probably benign	Het
Gtf3c2	T	A	5: 31,316,867 (GRCm39)		probably null	Het
Haghl	T	C	17: 26,002,470 (GRCm39)		probably benign	Het
Hoxc8	A	T	15: 102,901,181 (GRCm39)	N208I	probably damaging	Het
Igf2	T	C	7: 142,207,785 (GRCm39)	D115G	probably benign	Het
Jag2	T	A	12: 112,879,613 (GRCm39)	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,888 (GRCm39)	H54R	probably benign	Het
Lrp2	A	G	2: 69,352,117 (GRCm39)	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660 (GRCm39)	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,360,686 (GRCm39)	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,149,292 (GRCm39)	T168I	probably benign	Het
Mtg1	C	A	7: 139,730,085 (GRCm39)	Q294K	probably benign	Het
Myh3	C	T	11: 66,987,766 (GRCm39)	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,801,150 (GRCm39)		probably benign	Het
Ogfod3	T	C	11: 121,091,749 (GRCm39)	E119G	probably benign	Het
Or10ak9	A	G	4: 118,726,497 (GRCm39)	N173S	possibly damaging	Het
Or2t49	A	T	11: 58,393,073 (GRCm39)	M109K	probably benign	Het
Or4a77	A	G	2: 89,487,692 (GRCm39)	L31P	probably damaging	Het
Or5ak20	G	A	2: 85,184,006 (GRCm39)	T88I	probably benign	Het
Or6c210	A	T	10: 129,496,475 (GRCm39)	I267F	probably benign	Het
Parvb	G	T	15: 84,187,635 (GRCm39)	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 119,310,315 (GRCm39)	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,137,572 (GRCm39)	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,342,171 (GRCm39)	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,467,443 (GRCm39)	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,250,351 (GRCm39)	C131*	probably null	Het
Rigi	A	G	4: 40,229,536 (GRCm39)	S83P	probably damaging	Het
Rps6ka2	A	G	17: 7,556,402 (GRCm39)	D474G	probably benign	Het
Rsbn1l	T	C	5: 21,156,734 (GRCm39)	E17G	probably damaging	Het
Ryr2	T	C	13: 11,720,585 (GRCm39)	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,046,574 (GRCm39)		probably benign	Het
Smarcc1	A	G	9: 109,961,194 (GRCm39)		probably benign	Het
Soat2	T	C	15: 102,070,550 (GRCm39)	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,356,667 (GRCm39)		probably benign	Het
Tada1	C	T	1: 166,220,203 (GRCm39)	L308F	probably damaging	Het
Tango2	A	T	16: 18,128,731 (GRCm39)		probably null	Het
Tbc1d15	A	T	10: 115,065,111 (GRCm39)	V158D	probably damaging	Het
Tmx2	A	T	2: 84,503,588 (GRCm39)		probably benign	Het
Tpte	T	A	8: 22,795,874 (GRCm39)	I79K	probably benign	Het
Trav6-1	A	G	14: 52,876,199 (GRCm39)	I40V	probably benign	Het
Trgv3	A	G	13: 19,427,423 (GRCm39)	Y102C	probably damaging	Het
Ubash3a	T	C	17: 31,450,455 (GRCm39)	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,600,446 (GRCm39)	D575G	probably damaging	Het
Vps41	A	G	13: 19,037,649 (GRCm39)	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,638,259 (GRCm39)	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,317,264 (GRCm39)	V112A	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
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

2015-04-16