Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Donson'

541912

Institutional Source

Beutler Lab

Gene Symbol

Donson

Ensembl Gene

ENSMUSG00000022960

Gene Name

downstream neighbor of SON

Synonyms

Donson, ORF60, 1110025J21Rik

MMRRC Submission

045074-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R6964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91676808-91688770 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91681219 bp (GRCm38)

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: 98,065,759	Y334*	probably null	Het
Abcc2	A	C	19: 43,798,076	I116L	probably benign	Het
Adamts17	T	A	7: 66,909,400	Y313N	possibly damaging	Het
Adamts17	A	G	7: 67,004,353	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,156,854	I153V	probably damaging	Het
Ambra1	C	T	2: 91,917,416	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,099,265	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,369,456		probably null	Het
C4bp	A	T	1: 130,657,272	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,459	V344G	probably damaging	Het
Car7	A	G	8: 104,543,581	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,100	H157Q	probably null	Het
Chst11	C	T	10: 83,191,381	T214I	probably damaging	Het
Cntrob	G	A	11: 69,309,491	R526*	probably null	Het
Cul1	A	G	6: 47,516,509	T445A	probably benign	Het
Dclre1c	T	C	2: 3,453,169	V363A	possibly damaging	Het
Ddx58	A	G	4: 40,225,697	S235P	probably benign	Het
Dock10	T	A	1: 80,503,648		probably benign	Het
Eif3e	G	A	15: 43,272,289	A118V	probably benign	Het
Fam47e	A	T	5: 92,566,052	Q180L	probably damaging	Het
Fat1	T	G	8: 45,043,945	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,465,142	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,305,197	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,960,660	A71V	probably damaging	Het
Gfap	G	A	11: 102,896,957	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,957,497	M175I	probably benign	Het
Gm10645	C	T	8: 83,165,952		probably benign	Het
Haus5	G	A	7: 30,657,615	P464S	probably benign	Het
Helz2	T	A	2: 181,230,428	I2584F	probably damaging	Het
Mak	T	A	13: 41,032,591	I534L	probably benign	Het
Map3k9	T	C	12: 81,773,003	D159G	probably benign	Het
Mcat	A	G	15: 83,547,931		probably benign	Het
Meltf	A	G	16: 31,880,162	D30G	probably benign	Het
Ntng2	T	A	2: 29,197,029	Y452F	probably benign	Het
Olfr1130	T	C	2: 87,607,613	L75P	probably damaging	Het
Olfr1245	T	A	2: 89,574,989	I246F	probably benign	Het
Olfr1474	T	A	19: 13,471,361	Y130*	probably null	Het
Olfr473	A	T	7: 107,933,759	I80L	probably benign	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Pianp	T	A	6: 124,999,390	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,260,649	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,600,531	V268A	probably benign	Het
Rhoj	T	A	12: 75,375,389	Y74N	probably damaging	Het
Snx13	A	C	12: 35,119,789	T578P	possibly damaging	Het
Star	T	A	8: 25,811,823	H227Q	probably benign	Het
Stau2	A	C	1: 16,390,005	M204R	probably damaging	Het
Steap4	A	G	5: 7,975,568	Y43C	probably damaging	Het
Syt8	A	G	7: 142,439,421	E21G	probably benign	Het
Tacr3	T	C	3: 134,829,739	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,423	T199M	probably benign	Het
Tmem131	T	C	1: 36,796,292	T1583A	probably damaging	Het
Tom1	G	A	8: 75,051,965	V87I	probably null	Het
Treml4	G	T	17: 48,272,819		probably null	Het
Ttn	T	C	2: 76,714,113	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,581,850	C223W	probably damaging	Het
Wipi1	C	T	11: 109,603,764	R81Q	probably benign	Het
Zc3h7a	G	A	16: 11,149,224	T568I	probably benign	Het
Zfp287	A	T	11: 62,724,817	I228N	probably damaging	Het
Zfp606	T	A	7: 12,489,592	V10E	probably damaging	Het

Other mutations in Donson

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Donson	APN	16	91682591	missense	possibly damaging	0.79
IGL02458:Donson	APN	16	91681176	missense	probably damaging	0.97
IGL03238:Donson	APN	16	91681246	nonsense	probably null
IGL02802:Donson	UTSW	16	91681308	missense	possibly damaging	0.66
R0525:Donson	UTSW	16	91686245	missense	probably damaging	1.00
R0831:Donson	UTSW	16	91683763	missense	probably damaging	1.00
R3706:Donson	UTSW	16	91686161	unclassified	probably benign
R4191:Donson	UTSW	16	91688592	missense	possibly damaging	0.81
R4746:Donson	UTSW	16	91682237	missense	probably damaging	1.00
R4788:Donson	UTSW	16	91687833	missense	possibly damaging	0.66
R4947:Donson	UTSW	16	91682551	missense	probably damaging	1.00
R5171:Donson	UTSW	16	91681293	missense	possibly damaging	0.93
R5439:Donson	UTSW	16	91679926	missense	probably damaging	0.99
R5739:Donson	UTSW	16	91681229	splice site	probably null
R5809:Donson	UTSW	16	91687850	missense	possibly damaging	0.69
R7022:Donson	UTSW	16	91681330	missense	probably damaging	1.00
R7110:Donson	UTSW	16	91682121	nonsense	probably null
R7326:Donson	UTSW	16	91688711	start codon destroyed	probably null	0.99
R7826:Donson	UTSW	16	91688456	missense	possibly damaging	0.90
R8354:Donson	UTSW	16	91683797	missense	possibly damaging	0.95
Z1177:Donson	UTSW	16	91688472	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