Mutagenetix > Incidental Mutation

Incidental Mutation 'R6030:Ypel1'

486232

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

MMRRC Submission

044202-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6030 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16887560-16904909 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 16902377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023455] [ENSMUST00000035682] [ENSMUST00000134036] [ENSMUST00000164458] [ENSMUST00000231712] [ENSMUST00000231394] [ENSMUST00000232574] [ENSMUST00000231451] [ENSMUST00000232258] [ENSMUST00000231514]

AlphaFold

Q9ESC7

Predicted Effect

probably benign
Transcript: ENSMUST00000023455

SMART Domains

Protein: ENSMUSP00000023455
Gene: ENSMUSG00000022771

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: ENSMUST00000035682

SMART Domains

Protein: ENSMUSP00000039760
Gene: ENSMUSG00000022773

Domain	Start	End	E-Value	Type
Pfam:Yippee-Mis18	19	114	4.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120357

Predicted Effect

SMART Domains

Protein: ENSMUSP00000117812
Gene: ENSMUSG00000022773

Domain	Start	End	E-Value	Type
Pfam:Yippee-Mis18	19	114	4.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153489

Predicted Effect

probably benign
Transcript: ENSMUST00000164458

SMART Domains

Protein: ENSMUSP00000131422
Gene: ENSMUSG00000022771

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 benign
Transcript: ENSMUST00000231712

Predicted Effect

probably benign
Transcript: ENSMUST00000231394

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232397

Predicted Effect

probably benign
Transcript: ENSMUST00000232574

Predicted Effect

probably benign
Transcript: ENSMUST00000231451

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232303

Predicted Effect

probably benign
Transcript: ENSMUST00000232258

Predicted Effect

probably benign
Transcript: ENSMUST00000231514

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,133,021 (GRCm39)	N1317D	probably benign	Het
Abhd8	T	A	8: 71,910,794 (GRCm39)	Y338F	possibly damaging	Het
Actg2	G	T	6: 83,493,346 (GRCm39)	N297K	probably damaging	Het
Agap1	A	G	1: 89,558,156 (GRCm39)	D148G	probably damaging	Het
Alox12	T	C	11: 70,145,417 (GRCm39)	D52G	possibly damaging	Het
Ano5	T	A	7: 51,224,573 (GRCm39)	S496T	probably damaging	Het
Arl6ip4	T	C	5: 124,255,968 (GRCm39)		probably null	Het
Atp4a	G	C	7: 30,421,941 (GRCm39)	E826Q	probably damaging	Het
Bbs7	T	C	3: 36,657,060 (GRCm39)	D256G	probably damaging	Het
Bckdha	T	A	7: 25,330,866 (GRCm39)	D50V	probably damaging	Het
Cast	A	G	13: 74,844,056 (GRCm39)	S693P	possibly damaging	Het
Cfap251	C	T	5: 123,412,267 (GRCm39)	T532M	probably damaging	Het
Col6a1	T	C	10: 76,545,700 (GRCm39)	Y924C	unknown	Het
Crkl	A	G	16: 17,270,604 (GRCm39)	Y88C	probably damaging	Het
Cse1l	T	C	2: 166,761,541 (GRCm39)	F32L	probably benign	Het
Dmxl2	C	T	9: 54,300,957 (GRCm39)	V2385I	probably benign	Het
Dnah1	T	A	14: 30,989,984 (GRCm39)	I3219F	probably damaging	Het
Dnah17	C	T	11: 117,916,375 (GRCm39)	R4266H	probably benign	Het
Efcab5	A	G	11: 77,012,088 (GRCm39)	L722P	probably damaging	Het
Emilin3	C	A	2: 160,751,105 (GRCm39)	V215L	probably benign	Het
Entr1	T	C	2: 26,276,983 (GRCm39)	D249G	possibly damaging	Het
Esr1	A	T	10: 4,696,622 (GRCm39)	N157I	possibly damaging	Het
Esrrg	A	G	1: 187,930,904 (GRCm39)	M309V	probably benign	Het
Fam120b	G	A	17: 15,622,172 (GRCm39)	R50Q	probably damaging	Het
Fat2	G	T	11: 55,201,129 (GRCm39)	Y648*	probably null	Het
Gbp2b	T	A	3: 142,309,414 (GRCm39)	I175N	probably benign	Het
Gm1043	T	A	5: 37,311,952 (GRCm39)		probably benign	Het
Gm21060	A	G	19: 61,285,411 (GRCm39)	C33R	possibly damaging	Het
Gpx6	C	T	13: 21,496,510 (GRCm39)	S28L	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Ifi44	T	C	3: 151,455,195 (GRCm39)	Q10R	probably benign	Het
Impa2	T	C	18: 67,451,498 (GRCm39)	V264A	probably benign	Het
Khdc1a	A	T	1: 21,421,108 (GRCm39)	M98L	probably benign	Het
Lrrc45	T	A	11: 120,611,474 (GRCm39)	L616*	probably null	Het
Mios	A	T	6: 8,215,704 (GRCm39)	H300L	probably benign	Het
Mllt6	A	T	11: 97,568,051 (GRCm39)	T827S	probably damaging	Het
Mrc1	C	A	2: 14,321,712 (GRCm39)	D1068E	probably benign	Het
Ndst3	T	C	3: 123,346,168 (GRCm39)	Y702C	probably damaging	Het
Nek11	T	A	9: 105,082,087 (GRCm39)		probably null	Het
Nek4	T	C	14: 30,678,890 (GRCm39)	F138S	probably damaging	Het
Nfatc4	T	A	14: 56,069,897 (GRCm39)	Y688*	probably null	Het
Nlrx1	C	T	9: 44,175,057 (GRCm39)	V240M	probably damaging	Het
Npy6r	A	T	18: 44,409,149 (GRCm39)	Y190F	probably benign	Het
Or10ab5	A	C	7: 108,245,433 (GRCm39)	S117A	possibly damaging	Het
Or10d4b	T	C	9: 39,534,637 (GRCm39)	F71L	probably damaging	Het
Or1j10	T	G	2: 36,267,556 (GRCm39)	L256R	probably damaging	Het
Or52b4i	C	A	7: 102,191,817 (GRCm39)	R225S	probably benign	Het
Or5p52	A	G	7: 107,502,620 (GRCm39)	E232G	probably benign	Het
Or6c68	A	T	10: 129,158,238 (GRCm39)	T249S	probably benign	Het
Osbpl7	A	C	11: 96,943,087 (GRCm39)	H113P	probably benign	Het
Pam16l	C	T	10: 43,400,252 (GRCm39)	A30V	probably benign	Het
Pck1	A	G	2: 172,996,650 (GRCm39)	E188G	probably benign	Het
Pimreg	A	G	11: 71,936,576 (GRCm39)	D213G	probably benign	Het
Pkd1l2	A	G	8: 117,769,976 (GRCm39)	I1160T	probably damaging	Het
Ppargc1b	G	A	18: 61,441,005 (GRCm39)	Q622*	probably null	Het
Ppfia2	T	A	10: 106,742,338 (GRCm39)	C1044S	probably damaging	Het
Ppp4r3a	A	G	12: 101,024,659 (GRCm39)	V280A	probably damaging	Het
Ptprf	T	C	4: 118,068,245 (GRCm39)	N1764D	probably benign	Het
Pygm	C	T	19: 6,438,842 (GRCm39)	R311C	possibly damaging	Het
Rab7b	A	G	1: 131,626,299 (GRCm39)	K109R	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Setbp1	T	G	18: 78,900,926 (GRCm39)	I914L	probably benign	Het
Shprh	A	C	10: 11,027,735 (GRCm39)	Q114P	probably benign	Het
Slc5a9	T	C	4: 111,742,725 (GRCm39)	I456V	possibly damaging	Het
Slc8b1	T	C	5: 120,657,985 (GRCm39)		probably null	Het
Spin1	T	A	13: 51,293,552 (GRCm39)	Y87*	probably null	Het
Spring1	T	C	5: 118,393,798 (GRCm39)	W59R	probably damaging	Het
Srebf2	T	C	15: 82,061,477 (GRCm39)		probably null	Het
Sufu	T	C	19: 46,463,978 (GRCm39)	Y397H	probably damaging	Het
Tgfb3	A	C	12: 86,110,624 (GRCm39)	V242G	probably benign	Het
Tgm3	A	T	2: 129,883,920 (GRCm39)	Y526F	probably damaging	Het
Tmem209	A	G	6: 30,482,967 (GRCm39)	L508P	probably damaging	Het
Tmem67	T	C	4: 12,063,799 (GRCm39)	D454G	probably benign	Het
Ttn	T	C	2: 76,646,943 (GRCm39)	E3280G	possibly damaging	Het
Tusc3	G	C	8: 39,538,560 (GRCm39)	G200R	probably damaging	Het
Umps	A	G	16: 33,782,508 (GRCm39)	V138A	probably benign	Het
Zdhhc19	T	A	16: 32,317,860 (GRCm39)	L63Q	probably null	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
R3608:Ypel1	UTSW	16	16,910,154 (GRCm39)	nonsense	probably null
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
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'- TCCACATACATCACCTAGTGAAGTG -3'
(R):5'- AGCATTGTCACCAAGAAGCTAG -3'

Sequencing Primer
(F):5'- ACATCACCTAGTGAAGTGTTTGTG -3'
(R):5'- GTCACCAAGAAGCTAGGTCTTCTG -3'

Posted On

2017-08-16