Mutagenetix > Incidental Mutation

Incidental Mutation 'R3608:Ypel1'

269168

Institutional Source

Beutler Lab

Gene Symbol

Ypel1

Ensembl Gene

ENSMUSG00000022773

Gene Name

yippee like 1

Synonyms

1700016N17Rik, Dgl1, Ppil2, 1700019O22Rik, mdgl-1, 0610009L05Rik, 4921520K19Rik, 4930511F14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16887560-16904909 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 16910154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 126 (C126*)

Ref Sequence

ENSEMBL: ENSMUSP00000156114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023455] [ENSMUST00000115721] [ENSMUST00000164458] [ENSMUST00000231451] [ENSMUST00000231245] [ENSMUST00000231712] [ENSMUST00000232481]

AlphaFold

Q9ESC7

Predicted Effect

probably null
Transcript: ENSMUST00000023455
AA Change: C304*

SMART Domains

Protein: ENSMUSP00000023455
Gene: ENSMUSG00000022771
AA Change: C304*

Domain	Start	End	E-Value	Type
Ubox	42	101	2.53e-14	SMART
Pfam:Pro_isomerase	281	433	1.3e-50	PFAM
low complexity region	493	507	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115721
AA Change: C304*

SMART Domains

Protein: ENSMUSP00000111386
Gene: ENSMUSG00000022771
AA Change: C304*

Domain	Start	End	E-Value	Type
Ubox	42	101	2.53e-14	SMART
Pfam:Pro_isomerase	281	433	3.7e-53	PFAM
low complexity region	493	507	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124030

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149696

Predicted Effect

probably null
Transcript: ENSMUST00000164458
AA Change: C304*

SMART Domains

Protein: ENSMUSP00000131422
Gene: ENSMUSG00000022771
AA Change: C304*

Domain	Start	End	E-Value	Type
Ubox	42	101	2.53e-14	SMART
Pfam:Pro_isomerase	281	433	1.3e-50	PFAM
low complexity region	493	507	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153927

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156521

Predicted Effect

probably benign
Transcript: ENSMUST00000231451

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232169

Predicted Effect

probably benign
Transcript: ENSMUST00000231245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232397

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231898

Predicted Effect

probably null
Transcript: ENSMUST00000231712
AA Change: C304*

Predicted Effect

probably null
Transcript: ENSMUST00000232481
AA Change: C126*

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located in the region associated with DiGeorge syndrome on chromosome 22. The encoded protein localizes to the centrosome and nucleolus and may play a role in the regulation of cell division. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B3gnt4	C	A	5: 123,648,838 (GRCm39)	R68S	probably damaging	Het
Brf1	A	G	12: 112,924,894 (GRCm39)	L610P	probably benign	Het
Cacna1e	T	A	1: 154,291,831 (GRCm39)	R1783S	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
CK137956	A	T	4: 127,845,119 (GRCm39)	I208N	probably damaging	Het
Col17a1	G	A	19: 47,668,844 (GRCm39)	L127F	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Dlgap4	C	T	2: 156,590,332 (GRCm39)		probably benign	Het
Ect2l	A	T	10: 18,018,688 (GRCm39)	N619K	possibly damaging	Het
Hamp2	T	C	7: 30,623,539 (GRCm39)	T8A	probably benign	Het
Lamb1	T	A	12: 31,337,909 (GRCm39)	N407K	probably damaging	Het
Lrrc32	C	T	7: 98,148,393 (GRCm39)	T391M	probably benign	Het
Mroh2a	G	T	1: 88,172,717 (GRCm39)	A829S	probably damaging	Het
Ncoa1	T	C	12: 4,328,186 (GRCm39)	N884S	probably benign	Het
Neil1	T	C	9: 57,051,485 (GRCm39)	T278A	probably damaging	Het
Pcnx2	T	C	8: 126,614,840 (GRCm39)	T204A	probably benign	Het
Psmc3	T	A	2: 90,884,925 (GRCm39)	D30E	probably benign	Het
Rtkn	T	A	6: 83,127,016 (GRCm39)	C328S	probably damaging	Het
Speer4f2	C	A	5: 17,579,492 (GRCm39)	T97K	probably benign	Het
Srd5a2	A	G	17: 74,334,026 (GRCm39)	V131A	probably benign	Het
Tm9sf4	A	G	2: 153,020,897 (GRCm39)	H35R	probably benign	Het
Ubr2	G	T	17: 47,255,449 (GRCm39)	D1412E	probably damaging	Het
Vmn2r95	G	A	17: 18,660,235 (GRCm39)	V216I	possibly damaging	Het

Other mutations in Ypel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Ypel1	APN	16	16,909,076 (GRCm39)	missense	probably damaging	1.00
IGL02392:Ypel1	APN	16	16,906,702 (GRCm39)	missense	probably benign
IGL02559:Ypel1	APN	16	16,927,515 (GRCm39)	missense	possibly damaging	0.80
IGL02708:Ypel1	APN	16	16,923,872 (GRCm39)	missense	probably benign	0.03
IGL02724:Ypel1	APN	16	16,921,466 (GRCm39)	missense	probably benign	0.08
zagnut	UTSW	16	16,913,905 (GRCm39)	missense	possibly damaging	0.62
R0592:Ypel1	UTSW	16	16,925,083 (GRCm39)	missense	probably benign
R0975:Ypel1	UTSW	16	16,925,077 (GRCm39)	missense	probably benign	0.00
R1258:Ypel1	UTSW	16	16,923,917 (GRCm39)	missense	probably damaging	1.00
R1594:Ypel1	UTSW	16	16,899,985 (GRCm39)	missense	probably damaging	1.00
R1677:Ypel1	UTSW	16	16,921,474 (GRCm39)	missense	probably damaging	1.00
R1728:Ypel1	UTSW	16	16,907,283 (GRCm39)	unclassified	probably benign
R1739:Ypel1	UTSW	16	16,907,283 (GRCm39)	unclassified	probably benign
R1784:Ypel1	UTSW	16	16,907,283 (GRCm39)	unclassified	probably benign
R1853:Ypel1	UTSW	16	16,925,087 (GRCm39)	missense	probably benign	0.00
R1856:Ypel1	UTSW	16	16,899,511 (GRCm39)	splice site	probably null
R1921:Ypel1	UTSW	16	16,900,443 (GRCm39)	missense	probably benign	0.00
R3769:Ypel1	UTSW	16	16,927,532 (GRCm39)	missense	probably benign	0.30
R4445:Ypel1	UTSW	16	16,921,464 (GRCm39)	nonsense	probably null
R4518:Ypel1	UTSW	16	16,913,905 (GRCm39)	missense	possibly damaging	0.62
R5066:Ypel1	UTSW	16	16,927,539 (GRCm39)	missense	probably benign	0.03
R5085:Ypel1	UTSW	16	16,902,472 (GRCm39)	splice site	probably null
R5842:Ypel1	UTSW	16	16,912,851 (GRCm39)	missense	possibly damaging	0.66
R6013:Ypel1	UTSW	16	16,918,129 (GRCm39)	missense	probably damaging	1.00
R6030:Ypel1	UTSW	16	16,902,377 (GRCm39)	splice site	probably null
R6030:Ypel1	UTSW	16	16,902,377 (GRCm39)	splice site	probably null
R6415:Ypel1	UTSW	16	16,921,438 (GRCm39)	critical splice donor site	probably null
R6978:Ypel1	UTSW	16	16,902,438 (GRCm39)	missense	probably benign	0.01
R7735:Ypel1	UTSW	16	16,918,124 (GRCm39)	missense	probably benign	0.11
R8865:Ypel1	UTSW	16	16,915,269 (GRCm39)	missense	probably benign	0.02
R9173:Ypel1	UTSW	16	16,915,298 (GRCm39)	nonsense	probably null
R9720:Ypel1	UTSW	16	16,910,890 (GRCm39)	missense	probably damaging	0.99
RF014:Ypel1	UTSW	16	16,915,282 (GRCm39)	missense	probably damaging	1.00
X0010:Ypel1	UTSW	16	16,912,901 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- CCTGGCACAAGATACACCTG -3'
(R):5'- TGTTTCCCCATGTGTCATATGG -3'

Sequencing Primer
(F):5'- CATGGCCTGGAACGAGGTATCTG -3'
(R):5'- CCCATGTGTCATATGGCTGTAGGAC -3'

Posted On

2015-02-19