Mutagenetix > Incidental Mutation

Incidental Mutation 'R5809:Donson'

448940

Institutional Source

Beutler Lab

Gene Symbol

Donson

Ensembl Gene

ENSMUSG00000022960

Gene Name

downstream neighbor of SON

Synonyms

1110025J21Rik, ORF60, Donson

MMRRC Submission

043394-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R5809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91473696-91485658 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91484738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 9 (N9S)

Ref Sequence

ENSEMBL: ENSMUSP00000122506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023682] [ENSMUST00000073466] [ENSMUST00000114031] [ENSMUST00000117159] [ENSMUST00000117644] [ENSMUST00000122254] [ENSMUST00000144461] [ENSMUST00000136699] [ENSMUST00000139324] [ENSMUST00000145833] [ENSMUST00000133942] [ENSMUST00000159295] [ENSMUST00000124282] [ENSMUST00000138560]

AlphaFold

Q9QXP4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023682
AA Change: N111S

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023682
Gene: ENSMUSG00000022960
AA Change: N111S

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: N111S

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109665
Gene: ENSMUSG00000022960
AA Change: N111S

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: ENSMUST00000117159
AA Change: N111S

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113220
Gene: ENSMUSG00000022960
AA Change: N111S

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: ENSMUST00000144461
AA Change: N111S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000123648
Gene: ENSMUSG00000022960
AA Change: N111S

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: ENSMUST00000136699
AA Change: N9S

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000139324
AA Change: N111S

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120957
Gene: ENSMUSG00000022960
AA Change: N111S

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: ENSMUST00000145833
AA Change: N9S

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156242

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: 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: 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: 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: ENSMUST00000138560

SMART Domains

Protein: ENSMUSP00000121591
Gene: ENSMUSG00000022960

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: ENSMUST00000232491

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (77/78)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	G	8: 12,329,556 (GRCm39)	S4G	unknown	Het
AA623943	T	C	11: 94,703,828 (GRCm39)		noncoding transcript	Het
Abca13	T	A	11: 9,243,692 (GRCm39)	S1852T	probably damaging	Het
Ackr2	G	A	9: 121,738,540 (GRCm39)	C305Y	probably damaging	Het
Aebp1	T	C	11: 5,820,257 (GRCm39)	V411A	probably benign	Het
Akp3	G	A	1: 87,054,270 (GRCm39)	R269H	probably benign	Het
Alox15	C	A	11: 70,241,708 (GRCm39)	G58W	probably damaging	Het
Ankle2	A	G	5: 110,385,856 (GRCm39)	N369S	probably damaging	Het
Ankrd28	T	A	14: 31,465,311 (GRCm39)	I289L	probably benign	Het
Atp13a4	T	A	16: 29,252,805 (GRCm39)	T714S	possibly damaging	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Blm	A	T	7: 80,114,592 (GRCm39)	L1159Q	probably damaging	Het
Caskin1	G	A	17: 24,723,521 (GRCm39)	V770I	probably benign	Het
Ccdc148	T	A	2: 58,713,657 (GRCm39)	H498L	probably damaging	Het
Cdh26	T	A	2: 178,101,919 (GRCm39)	Y179*	probably null	Het
Cela2a	T	A	4: 141,552,864 (GRCm39)	T38S	probably benign	Het
Cep350	A	T	1: 155,809,087 (GRCm39)	N496K	probably damaging	Het
Cep89	A	G	7: 35,117,151 (GRCm39)	Y251C	probably damaging	Het
Cluh	T	C	11: 74,552,526 (GRCm39)	S524P	probably damaging	Het
Cpeb4	T	C	11: 31,822,801 (GRCm39)	S172P	probably damaging	Het
Ctnnd2	T	C	15: 30,847,523 (GRCm39)	S705P	probably damaging	Het
Dock2	T	G	11: 34,212,445 (GRCm39)	D1232A	probably benign	Het
Gdf9	T	C	11: 53,324,381 (GRCm39)	L50P	probably benign	Het
Gm10300	C	T	4: 131,802,458 (GRCm39)		probably benign	Het
Gm8369	A	G	19: 11,482,248 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,055,924 (GRCm39)		noncoding transcript	Het
Hepacam	T	A	9: 37,296,101 (GRCm39)	S417R	possibly damaging	Het
Hibch	T	A	1: 52,892,859 (GRCm39)	L23Q	probably benign	Het
Hmcn1	G	A	1: 150,525,358 (GRCm39)	R3389C	probably damaging	Het
Hsp90ab1	G	T	17: 45,881,575 (GRCm39)		probably benign	Het
Hunk	C	A	16: 90,272,791 (GRCm39)	T365K	probably damaging	Het
Il12a	A	T	3: 68,602,595 (GRCm39)		probably benign	Het
Ints13	A	G	6: 146,477,847 (GRCm39)	V34A	probably benign	Het
Intu	A	C	3: 40,634,020 (GRCm39)	M418L	probably damaging	Het
Khdc4	A	G	3: 88,616,192 (GRCm39)	R460G	probably damaging	Het
Klra9	A	G	6: 130,156,036 (GRCm39)	S240P	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Ndrg1	A	G	15: 66,802,699 (GRCm39)		probably benign	Het
Or11g24	T	C	14: 50,662,905 (GRCm39)	*310Q	probably null	Het
Or5k17	T	C	16: 58,746,860 (GRCm39)	T25A	probably benign	Het
Pate6	C	T	9: 35,700,297 (GRCm39)	C96Y	probably damaging	Het
Pax7	A	G	4: 139,557,682 (GRCm39)	S30P	probably damaging	Het
Pdcd11	A	T	19: 47,082,247 (GRCm39)	T54S	probably benign	Het
Pex19	T	C	1: 171,958,306 (GRCm39)	V95A	probably damaging	Het
Pkhd1l1	A	G	15: 44,383,103 (GRCm39)	I1121V	probably benign	Het
Pklr	A	T	3: 89,049,091 (GRCm39)	I146F	probably benign	Het
Plcb1	T	C	2: 135,104,164 (GRCm39)	Y278H	possibly damaging	Het
Plcl1	T	A	1: 55,735,160 (GRCm39)	I167N	probably damaging	Het
Plekhh1	A	T	12: 79,125,461 (GRCm39)	I1241F	probably benign	Het
Plxnb2	G	T	15: 89,051,774 (GRCm39)	D148E	possibly damaging	Het
Pthlh	T	C	6: 147,158,745 (GRCm39)	I72V	probably damaging	Het
Ptpru	C	T	4: 131,513,067 (GRCm39)	R880Q	probably benign	Het
Rrp36	T	C	17: 46,978,932 (GRCm39)	K209E	probably damaging	Het
Scarb1	A	G	5: 125,381,286 (GRCm39)	V86A	probably damaging	Het
Sh2d7	A	C	9: 54,446,860 (GRCm39)	S37R	probably benign	Het
Slc13a2	A	T	11: 78,288,647 (GRCm39)	V543E	probably damaging	Het
Smarcal1	A	G	1: 72,630,296 (GRCm39)	T117A	probably benign	Het
Smok2a	A	G	17: 13,445,865 (GRCm39)	R481G	possibly damaging	Het
Smr2	G	A	5: 88,256,699 (GRCm39)	A126T	probably benign	Het
Sspo	G	T	6: 48,436,979 (GRCm39)	W1304C	possibly damaging	Het
Svep1	A	G	4: 58,116,524 (GRCm39)	S909P	possibly damaging	Het
Tchh	A	T	3: 93,352,880 (GRCm39)	K773N	unknown	Het
Tmem156	T	C	5: 65,232,950 (GRCm39)	N140S	possibly damaging	Het
Tmem213	T	C	6: 38,092,589 (GRCm39)	I107T	possibly damaging	Het
Tpd52l2	A	G	2: 181,153,372 (GRCm39)	Y161C	probably damaging	Het
Trappc8	C	T	18: 20,951,139 (GRCm39)	A1436T	probably benign	Het
Ubr3	A	G	2: 69,795,855 (GRCm39)	Y933C	possibly damaging	Het
Ufm1	A	T	3: 53,765,303 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,103,931 (GRCm39)	L725Q	probably damaging	Het
Zdbf2	A	G	1: 63,345,035 (GRCm39)	D1138G	possibly damaging	Het
Zkscan16	G	A	4: 58,946,481 (GRCm39)	V119M	probably damaging	Het
Zmat5	A	G	11: 4,672,431 (GRCm39)	D16G	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
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'- CAGCCCTTTGAAAGTATTTCCTAGAG -3'
(R):5'- TTCAGGCACAAATCTGCAATG -3'

Sequencing Primer
(F):5'- TCAGAAGGTAGAGGCACTTGCTTC -3'
(R):5'- CTGCAATGAAACATGGTACTGTATGG -3'

Posted On

2016-12-15