Mutagenetix > Incidental Mutation

Incidental Mutation 'R1906:Dsn1'

214347

Institutional Source

Beutler Lab

Gene Symbol

Dsn1

Ensembl Gene

ENSMUSG00000027635

Gene Name

DSN1 homolog, MIS12 kinetochore complex component

Synonyms

1700022L09Rik

MMRRC Submission

039925-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R1906 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156837185-156849074 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 156838163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 334 (R334W)

Ref Sequence

ENSEMBL: ENSMUSP00000099419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069600] [ENSMUST00000072298] [ENSMUST00000103129] [ENSMUST00000103130] [ENSMUST00000109558] [ENSMUST00000146413]

AlphaFold

Q9CYC5

Predicted Effect

probably benign
Transcript: ENSMUST00000069600

SMART Domains

Protein: ENSMUSP00000070052
Gene: ENSMUSG00000027634

Domain	Start	End	E-Value	Type
Pfam:Ndr	32	317	1.1e-129	PFAM
low complexity region	335	359	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072298

SMART Domains

Protein: ENSMUSP00000072144
Gene: ENSMUSG00000027634

Domain	Start	End	E-Value	Type
Pfam:Ndr	32	317	1.9e-129	PFAM
Pfam:Abhydrolase_6	58	305	1.6e-13	PFAM
low complexity region	322	346	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000103129
AA Change: R334W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099418
Gene: ENSMUSG00000027635
AA Change: R334W

Domain	Start	End	E-Value	Type
Pfam:MIS13	72	348	4.5e-68	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000103130
AA Change: R334W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099419
Gene: ENSMUSG00000027635
AA Change: R334W

Domain	Start	End	E-Value	Type
Pfam:MIS13	72	348	4.5e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109558

SMART Domains

Protein: ENSMUSP00000105185
Gene: ENSMUSG00000027634

Domain	Start	End	E-Value	Type
Pfam:Ndr	32	252	1.8e-99	PFAM
Pfam:Abhydrolase_6	55	237	6.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156651

Predicted Effect

probably benign
Transcript: ENSMUST00000146413

SMART Domains

Protein: ENSMUSP00000122524
Gene: ENSMUSG00000027635

Domain	Start	End	E-Value	Type
Pfam:MIS13	72	199	1.7e-32	PFAM

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,072,984 (GRCm39)	T923I	probably benign	Het
Abhd13	T	A	8: 10,038,170 (GRCm39)	C256S	probably benign	Het
Adamts5	C	T	16: 85,665,573 (GRCm39)	W576*	probably null	Het
Adnp	A	T	2: 168,024,287 (GRCm39)	S1003T	probably benign	Het
AI987944	C	T	7: 41,024,550 (GRCm39)	R146Q	probably benign	Het
Apol6	G	T	15: 76,935,060 (GRCm39)	V110F	probably damaging	Het
Arhgap27	A	G	11: 103,223,751 (GRCm39)	F651L	probably damaging	Het
Atm	T	C	9: 53,417,868 (GRCm39)	D813G	probably damaging	Het
Casd1	T	A	6: 4,641,979 (GRCm39)	I752N	probably damaging	Het
Cdr2	A	G	7: 120,581,224 (GRCm39)	Y18H	probably damaging	Het
Cntn4	T	C	6: 106,330,607 (GRCm39)	F75S	probably benign	Het
Col20a1	G	A	2: 180,640,490 (GRCm39)	R549H	probably benign	Het
Col28a1	A	T	6: 7,999,644 (GRCm39)	N1024K	probably benign	Het
Dnah10	T	A	5: 124,878,048 (GRCm39)	V2654D	probably damaging	Het
Dnph1	A	T	17: 46,807,787 (GRCm39)	I18F	probably damaging	Het
Egf	T	A	3: 129,518,873 (GRCm39)	K325N	probably benign	Het
Eps15	T	G	4: 109,181,398 (GRCm39)	S311A	possibly damaging	Het
Fmo3	G	T	1: 162,794,475 (GRCm39)	D198E	probably damaging	Het
Folh1	C	G	7: 86,391,374 (GRCm39)		probably null	Het
Foxn1	A	G	11: 78,262,636 (GRCm39)		probably null	Het
Gm10604	T	G	4: 11,979,989 (GRCm39)	D105A	unknown	Het
Gpx8	A	G	13: 113,182,110 (GRCm39)	C108R	probably damaging	Het
Herc2	A	T	7: 55,764,612 (GRCm39)	I1013L	probably benign	Het
Hyal4	T	G	6: 24,756,110 (GRCm39)	N109K	probably damaging	Het
Il22ra1	T	G	4: 135,478,544 (GRCm39)	C538W	probably damaging	Het
Ints13	A	T	6: 146,453,868 (GRCm39)		probably null	Het
Krt75	T	A	15: 101,481,801 (GRCm39)	T156S	possibly damaging	Het
Lama2	A	C	10: 26,932,523 (GRCm39)		probably null	Het
Lifr	G	T	15: 7,217,612 (GRCm39)	V847L	probably damaging	Het
Lmf1	T	A	17: 25,831,309 (GRCm39)	I185N	probably damaging	Het
Mast1	G	A	8: 85,642,895 (GRCm39)	R967C	probably damaging	Het
Ms4a15	T	C	19: 10,960,644 (GRCm39)	I94V	probably benign	Het
Mycbpap	A	T	11: 94,396,447 (GRCm39)	M131K	probably benign	Het
Ncor1	A	T	11: 62,240,211 (GRCm39)	M920K	possibly damaging	Het
Neb	A	G	2: 52,198,538 (GRCm39)	Y437H	probably damaging	Het
Npy5r	A	T	8: 67,134,125 (GRCm39)	W223R	probably damaging	Het
Or10ak11	G	A	4: 118,687,467 (GRCm39)	H56Y	probably damaging	Het
Or10x4	C	A	1: 174,218,730 (GRCm39)	L32M	probably damaging	Het
Or4c114	A	G	2: 88,905,414 (GRCm39)	V7A	possibly damaging	Het
Or6c6c	T	G	10: 129,541,365 (GRCm39)	V206G	probably benign	Het
Polg	T	C	7: 79,110,070 (GRCm39)	K353E	probably damaging	Het
Proz	C	G	8: 13,123,686 (GRCm39)		probably null	Het
Pus7	T	C	5: 23,983,209 (GRCm39)	D86G	probably damaging	Het
Rhpn1	T	C	15: 75,583,673 (GRCm39)	V386A	probably benign	Het
Rigi	T	C	4: 40,206,054 (GRCm39)	K846R	probably benign	Het
Sptbn4	A	G	7: 27,090,856 (GRCm39)		probably null	Het
Srp68	A	T	11: 116,141,587 (GRCm39)	I424N	probably damaging	Het
Stard9	A	G	2: 120,526,908 (GRCm39)	E1055G	probably benign	Het
Taf4b	A	G	18: 14,955,159 (GRCm39)	I571V	probably benign	Het
Tas2r107	T	C	6: 131,636,951 (GRCm39)	M33V	probably benign	Het
Thap12	T	C	7: 98,365,947 (GRCm39)	L705P	probably damaging	Het
Tom1	T	C	8: 75,778,218 (GRCm39)	V100A	probably damaging	Het
Tox3	A	G	8: 90,975,057 (GRCm39)		probably benign	Het
Vmn2r82	A	G	10: 79,232,344 (GRCm39)	N781S	probably damaging	Het
Vwa5b1	A	T	4: 138,327,547 (GRCm39)	V343E	possibly damaging	Het
Zbbx	A	G	3: 74,979,047 (GRCm39)	Y467H	probably damaging	Het
Zbtb46	G	A	2: 181,065,632 (GRCm39)	R173W	probably damaging	Het
Zfp112	A	G	7: 23,821,720 (GRCm39)	D20G	probably benign	Het
Zfp777	A	C	6: 48,018,995 (GRCm39)	M313R	probably damaging	Het

Other mutations in Dsn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01572:Dsn1	APN	2	156,841,054 (GRCm39)	critical splice donor site	probably null
IGL02425:Dsn1	APN	2	156,838,667 (GRCm39)	missense	probably damaging	0.99
BB005:Dsn1	UTSW	2	156,847,932 (GRCm39)	start gained	probably benign
BB015:Dsn1	UTSW	2	156,847,932 (GRCm39)	start gained	probably benign
IGL03014:Dsn1	UTSW	2	156,838,739 (GRCm39)	missense	possibly damaging	0.94
R0421:Dsn1	UTSW	2	156,847,789 (GRCm39)	missense	possibly damaging	0.95
R0519:Dsn1	UTSW	2	156,840,633 (GRCm39)	splice site	probably benign
R0694:Dsn1	UTSW	2	156,847,789 (GRCm39)	missense	possibly damaging	0.95
R2043:Dsn1	UTSW	2	156,847,273 (GRCm39)	missense	possibly damaging	0.47
R2930:Dsn1	UTSW	2	156,847,381 (GRCm39)	missense	probably damaging	0.99
R4363:Dsn1	UTSW	2	156,841,062 (GRCm39)	missense	probably benign	0.41
R4749:Dsn1	UTSW	2	156,843,660 (GRCm39)	missense	probably damaging	1.00
R6017:Dsn1	UTSW	2	156,838,162 (GRCm39)	missense	probably damaging	1.00
R6496:Dsn1	UTSW	2	156,847,187 (GRCm39)	missense	probably damaging	0.97
R7562:Dsn1	UTSW	2	156,842,792 (GRCm39)	missense	probably damaging	0.99
R7740:Dsn1	UTSW	2	156,839,636 (GRCm39)	missense	possibly damaging	0.88
R7928:Dsn1	UTSW	2	156,847,932 (GRCm39)	start gained	probably benign
R8496:Dsn1	UTSW	2	156,839,640 (GRCm39)	missense	probably benign	0.41
R9322:Dsn1	UTSW	2	156,843,669 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- GAAGGCCATTTTGAGCATCGTG -3'
(R):5'- TAGCTTTCCTGGCTATGGGAC -3'

Sequencing Primer
(F):5'- GCATCGTGCACATCCCGAC -3'
(R):5'- ATTTGTCACACCGTGCTAGC -3'

Posted On

2014-07-14