Mutagenetix > Incidental Mutation

Incidental Mutation 'R5957:Cenps'

471219

Institutional Source

Beutler Lab

Gene Symbol

Cenps

Ensembl Gene

ENSMUSG00000073705

Gene Name

centromere protein S

Synonyms

2610040C18Rik, Apitd1, 2810407L01Rik

MMRRC Submission

043246-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.261) question?

Stock #

R5957 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

149212806-149222057 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 149214658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030813] [ENSMUST00000030815] [ENSMUST00000105695] [ENSMUST00000105696] [ENSMUST00000150150] [ENSMUST00000176124] [ENSMUST00000177408]

AlphaFold

Q9D084

Predicted Effect

silent
Transcript: ENSMUST00000030813

SMART Domains

Protein: ENSMUSP00000030813
Gene: ENSMUSG00000073705

Domain	Start	End	E-Value	Type
Pfam:CENP-S	16	91	1.4e-36	PFAM
Pfam:CENP-T_C	18	116	2.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030815

SMART Domains

Protein: ENSMUSP00000030815
Gene: ENSMUSG00000028971

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	65	78	N/A	INTRINSIC
Pfam:Somatostatin	91	108	9.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105695

SMART Domains

Protein: ENSMUSP00000101320
Gene: ENSMUSG00000073705

Domain	Start	End	E-Value	Type
Pfam:CENP-S	16	75	3.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105696

SMART Domains

Protein: ENSMUSP00000101321
Gene: ENSMUSG00000073705

Domain	Start	End	E-Value	Type
Pfam:CENP-S	16	76	2e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132672

Predicted Effect

silent
Transcript: ENSMUST00000150150

SMART Domains

Protein: ENSMUSP00000121878
Gene: ENSMUSG00000073705

Domain	Start	End	E-Value	Type
Pfam:CENP-S	1	26	7.3e-14	PFAM
low complexity region	43	51	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000176124

SMART Domains

Protein: ENSMUSP00000134756
Gene: ENSMUSG00000073705

Domain	Start	End	E-Value	Type
Pfam:CENP-S	1	26	1.4e-13	PFAM
low complexity region	43	62	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000177408
AA Change: R69L

SMART Domains

Protein: ENSMUSP00000135536
Gene: ENSMUSG00000073705
AA Change: R69L

Domain	Start	End	E-Value	Type
Pfam:CENP-S	16	64	1.2e-12	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,775,922 (GRCm39)	T1704A	probably benign	Het
Adgrg7	T	A	16: 56,593,790 (GRCm39)	N142I	probably damaging	Het
Aldh18a1	A	T	19: 40,558,981 (GRCm39)	Y286*	probably null	Het
Arpp21	T	C	9: 112,014,754 (GRCm39)	T17A	probably benign	Het
Bnip2	T	C	9: 69,906,520 (GRCm39)	I147T	probably damaging	Het
Ccr8	T	C	9: 119,922,893 (GRCm39)	Y3H	probably damaging	Het
Cul7	G	A	17: 46,968,683 (GRCm39)	G553S	probably damaging	Het
Cyp21a1	A	G	17: 35,022,150 (GRCm39)	I206T	probably benign	Het
Dennd4b	A	G	3: 90,178,272 (GRCm39)	D488G	probably damaging	Het
Dip2b	T	C	15: 100,107,575 (GRCm39)	L1195P	probably benign	Het
Dmac2l	T	C	12: 69,790,558 (GRCm39)	V185A	probably benign	Het
Dock5	T	A	14: 68,095,443 (GRCm39)	H77L	probably benign	Het
Fbxw13	C	T	9: 109,021,734 (GRCm39)		probably null	Het
Fmnl3	G	A	15: 99,223,791 (GRCm39)	R302W	probably damaging	Het
Gbf1	G	T	19: 46,234,660 (GRCm39)		probably null	Het
Gm4846	T	C	1: 166,314,522 (GRCm39)	I374V	probably benign	Het
Gsk3b	C	A	16: 38,014,315 (GRCm39)	P258T	probably damaging	Het
Igsf5	T	C	16: 96,165,249 (GRCm39)	V8A	probably benign	Het
Il22	T	A	10: 118,041,071 (GRCm39)	L59Q	probably damaging	Het
Ildr1	T	C	16: 36,545,896 (GRCm39)	*517Q	probably null	Het
Iqca1	T	A	1: 90,008,670 (GRCm39)	D450V	probably damaging	Het
Itga5	T	C	15: 103,259,856 (GRCm39)	D647G	probably benign	Het
Myh7	T	G	14: 55,226,535 (GRCm39)	N408T	probably damaging	Het
Mylk3	T	C	8: 86,055,266 (GRCm39)	M564V	probably damaging	Het
Nsd2	T	A	5: 34,012,947 (GRCm39)	M407K	probably damaging	Het
Odad2	T	C	18: 7,285,706 (GRCm39)	E219G	probably benign	Het
Oprd1	C	T	4: 131,871,474 (GRCm39)	V75I	probably benign	Het
Poli	G	A	18: 70,650,511 (GRCm39)	H310Y	probably benign	Het
Pramel19	T	C	4: 101,798,898 (GRCm39)	F290L	probably benign	Het
Ptch1	C	T	13: 63,672,929 (GRCm39)	R755H	probably damaging	Het
Pygl	A	T	12: 70,246,494 (GRCm39)	M351K	probably damaging	Het
Serpinb9b	T	C	13: 33,223,831 (GRCm39)	L341P	possibly damaging	Het
Slc47a1	A	G	11: 61,235,168 (GRCm39)	V555A	probably benign	Het
Slc8a2	C	A	7: 15,879,209 (GRCm39)	T565K	possibly damaging	Het
Snx14	T	C	9: 88,285,327 (GRCm39)	I446V	possibly damaging	Het
Syde1	T	C	10: 78,425,951 (GRCm39)	Y72C	probably damaging	Het
Trim37	C	T	11: 87,036,377 (GRCm39)	R138C	probably damaging	Het
Tubgcp5	T	A	7: 55,464,710 (GRCm39)	S530R	probably benign	Het
Vps13c	T	C	9: 67,862,253 (GRCm39)	S2957P	probably damaging	Het
Wdr41	T	C	13: 95,133,695 (GRCm39)		probably null	Het
Zyg11b	T	C	4: 108,102,210 (GRCm39)	K504E	probably damaging	Het

Other mutations in Cenps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02212:Cenps	APN	4	149,213,303 (GRCm39)	missense	probably damaging	1.00
R5408:Cenps	UTSW	4	149,214,658 (GRCm39)	intron	probably benign
R5410:Cenps	UTSW	4	149,214,658 (GRCm39)	intron	probably benign
R5457:Cenps	UTSW	4	149,216,094 (GRCm39)	critical splice donor site	probably null
R5939:Cenps	UTSW	4	149,214,658 (GRCm39)	intron	probably benign
R5951:Cenps	UTSW	4	149,214,658 (GRCm39)	intron	probably benign
R5952:Cenps	UTSW	4	149,214,658 (GRCm39)	intron	probably benign
R5953:Cenps	UTSW	4	149,214,658 (GRCm39)	intron	probably benign
R5954:Cenps	UTSW	4	149,214,658 (GRCm39)	intron	probably benign
R7601:Cenps	UTSW	4	149,216,772 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

Posted On

2017-03-31