Mutagenetix > Incidental Mutation

Incidental Mutation 'R7326:Donson'

568953

Institutional Source

Beutler Lab

Gene Symbol

Donson

Ensembl Gene

ENSMUSG00000022960

Gene Name

downstream neighbor of SON

Synonyms

1110025J21Rik, ORF60, Donson

MMRRC Submission

045378-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R7326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91473696-91485658 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 91485599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000023682 (fasta)

Gene Model

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

AlphaFold

Q9QXP4

Predicted Effect

probably null
Transcript: ENSMUST00000023682
AA Change: M1K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023682
Gene: ENSMUSG00000022960
AA Change: M1K

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

probably null
Transcript: ENSMUST00000114031
AA Change: M1K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109665
Gene: ENSMUSG00000022960
AA Change: M1K

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 null
Transcript: ENSMUST00000117159
AA Change: M1K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113220
Gene: ENSMUSG00000022960
AA Change: M1K

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

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: 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: ENSMUST00000136699

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

probably null
Transcript: ENSMUST00000139324
AA Change: M1K

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120957
Gene: ENSMUSG00000022960
AA Change: M1K

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 null
Transcript: ENSMUST00000144461
AA Change: M1K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000123648
Gene: ENSMUSG00000022960
AA Change: M1K

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: 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: ENSMUST00000145833

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,984,226 (GRCm39)	V652A	probably benign	Het
Acvrl1	G	T	15: 101,038,953 (GRCm39)	V417L	probably damaging	Het
Add1	A	G	5: 34,776,715 (GRCm39)	R479G	probably benign	Het
Adgb	A	T	10: 10,276,318 (GRCm39)	L350Q	possibly damaging	Het
Adgrl2	A	T	3: 148,552,506 (GRCm39)	S666T	probably benign	Het
Akap9	T	A	5: 4,095,930 (GRCm39)	D2268E	possibly damaging	Het
Amigo3	C	A	9: 107,931,265 (GRCm39)	H229Q	probably benign	Het
Ano6	G	C	15: 95,762,125 (GRCm39)	Q31H	possibly damaging	Het
Ap4m1	G	A	5: 138,173,281 (GRCm39)	D180N	probably damaging	Het
Apc2	A	T	10: 80,147,574 (GRCm39)	D876V	probably damaging	Het
Apcdd1	T	A	18: 63,085,259 (GRCm39)	Y485*	probably null	Het
Aqp1	G	T	6: 55,313,836 (GRCm39)	D121Y	probably benign	Het
Bicd2	C	A	13: 49,523,085 (GRCm39)	R141S	probably benign	Het
Brpf3	C	A	17: 29,025,267 (GRCm39)	H113Q	probably benign	Het
Cacng2	A	T	15: 77,897,520 (GRCm39)	Y96*	probably null	Het
Catsperg1	G	T	7: 28,910,184 (GRCm39)	N52K	possibly damaging	Het
Celsr2	A	C	3: 108,302,311 (GRCm39)	F2606V	possibly damaging	Het
Cerkl	A	T	2: 79,162,949 (GRCm39)	N516K	probably benign	Het
Ciita	G	A	16: 10,330,152 (GRCm39)	R812H	probably damaging	Het
Cldn3	T	A	5: 135,015,837 (GRCm39)	L180Q	probably damaging	Het
Cnot6l	T	C	5: 96,225,158 (GRCm39)	I512V	probably benign	Het
Col5a2	A	T	1: 45,482,027 (GRCm39)	D32E	unknown	Het
Coro7	A	G	16: 4,449,912 (GRCm39)	V616A	probably damaging	Het
Cyp4f18	T	C	8: 72,742,498 (GRCm39)	D494G	probably benign	Het
Ddx39a	T	A	8: 84,449,100 (GRCm39)	V296E	probably benign	Het
Dgkg	A	T	16: 22,367,440 (GRCm39)	H593Q	probably damaging	Het
Dhx16	T	C	17: 36,197,052 (GRCm39)	L645P	probably damaging	Het
Dnah14	A	G	1: 181,425,968 (GRCm39)	M171V	probably benign	Het
Dnhd1	G	A	7: 105,370,137 (GRCm39)	V4521I	probably damaging	Het
Dok7	A	T	5: 35,221,866 (GRCm39)	M60L	probably benign	Het
Dsp	C	T	13: 38,376,859 (GRCm39)	T1548M	probably benign	Het
Dyrk1a	A	G	16: 94,492,902 (GRCm39)	T712A	probably damaging	Het
Eef2	A	G	10: 81,017,116 (GRCm39)	T708A	probably benign	Het
Epn3	G	A	11: 94,384,606 (GRCm39)	T289I	probably benign	Het
Fam171a1	C	T	2: 3,227,509 (GRCm39)	R881*	probably null	Het
Fat2	T	A	11: 55,173,130 (GRCm39)	R2528W	probably damaging	Het
Fbxl9	T	C	8: 106,039,530 (GRCm39)	D127G	probably damaging	Het
Fgfr1	T	G	8: 26,063,855 (GRCm39)	F707C	probably damaging	Het
Frem2	G	C	3: 53,562,174 (GRCm39)	P778A	probably damaging	Het
Ganc	A	G	2: 120,261,080 (GRCm39)	Y255C	probably damaging	Het
Garin4	G	A	1: 190,896,550 (GRCm39)	T31M	probably benign	Het
Ginm1	A	T	10: 7,653,614 (GRCm39)	Y65*	probably null	Het
Gm11559	T	A	11: 99,755,707 (GRCm39)	C119S	unknown	Het
Gnai1	T	A	5: 18,494,549 (GRCm39)	H188L		Het
H2bc6	T	C	13: 23,769,906 (GRCm39)	K12E	probably benign	Het
H6pd	C	T	4: 150,080,807 (GRCm39)	A13T	probably benign	Het
Hoxd12	A	T	2: 74,505,590 (GRCm39)	T54S	possibly damaging	Het
Hs3st5	T	A	10: 36,709,190 (GRCm39)	L242M	probably damaging	Het
Il9r	C	A	11: 32,144,389 (GRCm39)	V139L	possibly damaging	Het
Immt	A	G	6: 71,823,353 (GRCm39)	D68G	probably damaging	Het
Itsn2	A	G	12: 4,682,985 (GRCm39)	I304V	unknown	Het
Lgr4	G	A	2: 109,826,974 (GRCm39)	W159*	probably null	Het
Lin52	G	A	12: 84,504,728 (GRCm39)	G38S	probably damaging	Het
Lpgat1	A	T	1: 191,451,565 (GRCm39)	M64L	probably benign	Het
Lrrc10b	G	T	19: 10,434,142 (GRCm39)	R180S	possibly damaging	Het
Lrrc36	A	T	8: 106,176,401 (GRCm39)	L258F	possibly damaging	Het
Ltbp4	T	A	7: 27,029,180 (GRCm39)	Q235L	unknown	Het
Maml2	A	G	9: 13,532,903 (GRCm39)	M706V		Het
Mc5r	G	T	18: 68,472,739 (GRCm39)	C366F	probably damaging	Het
Mlip	T	C	9: 77,072,124 (GRCm39)	R244G	probably benign	Het
Muc16	T	A	9: 18,496,309 (GRCm39)	R6658S	probably benign	Het
Mup4	G	T	4: 59,960,046 (GRCm39)	H73N	possibly damaging	Het
Nf1	A	G	11: 79,455,769 (GRCm39)	M565V	probably benign	Het
Nphp1	G	A	2: 127,603,137 (GRCm39)	T382I	possibly damaging	Het
Nrcam	C	T	12: 44,610,809 (GRCm39)	T503I	possibly damaging	Het
Nwd2	A	T	5: 63,957,752 (GRCm39)	N361Y	probably damaging	Het
Or10a3	A	T	7: 108,480,023 (GRCm39)	H263Q	probably damaging	Het
Or4f15	A	T	2: 111,813,672 (GRCm39)	L249*	probably null	Het
Or5ak23	A	T	2: 85,244,788 (GRCm39)	V145E	probably damaging	Het
Or6f1	A	G	7: 85,970,782 (GRCm39)	I126T	probably damaging	Het
Or7g21	A	G	9: 19,032,965 (GRCm39)	Y235C	probably benign	Het
Or8j3	A	G	2: 86,028,917 (GRCm39)	Y60H	probably damaging	Het
Or9a7	G	T	6: 40,521,829 (GRCm39)	A28E	probably damaging	Het
Orc5	A	G	5: 22,728,582 (GRCm39)	F308L	probably benign	Het
Padi1	T	A	4: 140,559,715 (GRCm39)	Y54F	probably benign	Het
Parp1	A	G	1: 180,396,665 (GRCm39)	K23E	possibly damaging	Het
Pate1	A	T	9: 35,597,268 (GRCm39)	V79D	possibly damaging	Het
Pcdh18	T	C	3: 49,711,309 (GRCm39)	H2R	probably benign	Het
Pcnx2	G	A	8: 126,613,822 (GRCm39)	S543F	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pnkp	T	A	7: 44,509,158 (GRCm39)	F169L	probably damaging	Het
Ppp6r3	A	T	19: 3,557,325 (GRCm39)	N254K	probably damaging	Het
Psd	A	G	19: 46,312,893 (GRCm39)	L159P	probably benign	Het
Ptprf	A	G	4: 118,088,866 (GRCm39)	Y646H	probably damaging	Het
Rab3ip	A	T	10: 116,773,538 (GRCm39)	S92T	probably benign	Het
Rabgef1	A	G	5: 130,216,192 (GRCm39)		probably benign	Het
Ralgapa1	C	A	12: 55,755,789 (GRCm39)	W1129L	probably damaging	Het
Rhpn2	T	A	7: 35,084,888 (GRCm39)	L594Q	probably benign	Het
Rnf38	C	A	4: 44,158,989 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,753,080 (GRCm39)	H1747L	possibly damaging	Het
Sec16a	A	G	2: 26,329,729 (GRCm39)	L13P	unknown	Het
Spef1l	A	T	7: 139,558,458 (GRCm39)		probably null	Het
Sppl3	C	A	5: 115,220,394 (GRCm39)	T102K	probably damaging	Het
Srgap2	A	T	1: 131,219,351 (GRCm39)	Y264*	probably null	Het
Stxbp2	T	C	8: 3,691,151 (GRCm39)	M465T		Het
Sumf2	A	G	5: 129,891,551 (GRCm39)	K305R	probably benign	Het
Susd2	T	A	10: 75,478,399 (GRCm39)	Y59F	probably benign	Het
Taco1	T	C	11: 105,963,443 (GRCm39)	V198A	probably benign	Het
Tas2r136	A	T	6: 132,754,869 (GRCm39)	M86K	possibly damaging	Het
Tbc1d10c	T	C	19: 4,234,897 (GRCm39)	E388G	possibly damaging	Het
Tmem132c	C	T	5: 127,641,123 (GRCm39)	T1098I	possibly damaging	Het
Trim3	G	T	7: 105,267,007 (GRCm39)	Y457*	probably null	Het
Ttc38	A	G	15: 85,737,062 (GRCm39)	T316A	probably benign	Het
Ubqln4	T	A	3: 88,463,217 (GRCm39)	N127K	probably benign	Het
Wdr91	A	T	6: 34,881,561 (GRCm39)	F262Y	probably damaging	Het
Zdhhc6	A	T	19: 55,291,187 (GRCm39)	C343S	possibly damaging	Het
Zfp248	A	G	6: 118,407,170 (GRCm39)	C140R	probably damaging	Het
Zfp266	T	C	9: 20,413,391 (GRCm39)	T90A	probably benign	Het
Zfp407	A	T	18: 84,577,167 (GRCm39)	D1315E	possibly damaging	Het
Zfp644	T	C	5: 106,786,143 (GRCm39)	S135G	probably benign	Het
Zscan29	A	T	2: 120,991,469 (GRCm39)	I773N	probably damaging	Het
Zswim5	T	A	4: 116,838,031 (GRCm39)	V787E	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
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
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'- GGTACTGTTAATCCCTTTTCCGAG -3'

Sequencing Primer
(F):5'- AGCTCAGGACATCAGCCTG -3'
(R):5'- TTCTCAGCGACGCCGAC -3'

Posted On

2019-09-13