Mutagenetix > Incidental Mutation

Incidental Mutation 'R8137:Ypel3'

632303

Institutional Source

Beutler Lab

Gene Symbol

Ypel3

Ensembl Gene

ENSMUSG00000042675

Gene Name

yippee like 3

Synonyms

Suap, 1190001G19Rik, 0610043B10Rik

MMRRC Submission

067565-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126376135-126379682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 126377269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 54 (V54G)

Ref Sequence

ENSEMBL: ENSMUSP00000037332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032944] [ENSMUST00000038614] [ENSMUST00000094037] [ENSMUST00000106356] [ENSMUST00000106357] [ENSMUST00000106359] [ENSMUST00000132643] [ENSMUST00000145762] [ENSMUST00000170882] [ENSMUST00000172352]

AlphaFold

P61237

Predicted Effect

probably benign
Transcript: ENSMUST00000032944

SMART Domains

Protein: ENSMUSP00000032944
Gene: ENSMUSG00000030703

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
Pfam:GDPD	44	202	1.1e-23	PFAM
low complexity region	208	216	N/A	INTRINSIC
low complexity region	311	321	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038614
AA Change: V54G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037332
Gene: ENSMUSG00000042675
AA Change: V54G

Domain	Start	End	E-Value	Type
Pfam:Yippee-Mis18	20	114	6.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094037

SMART Domains

Protein: ENSMUSP00000091579
Gene: ENSMUSG00000030699

Domain	Start	End	E-Value	Type
low complexity region	55	75	N/A	INTRINSIC
TBOX	90	278	1.79e-128	SMART
low complexity region	332	348	N/A	INTRINSIC
low complexity region	414	428	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106356
AA Change: V54G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101963
Gene: ENSMUSG00000042675
AA Change: V54G

Domain	Start	End	E-Value	Type
Pfam:Yippee-Mis18	20	114	5.4e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106357
AA Change: V54G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101964
Gene: ENSMUSG00000042675
AA Change: V54G

Domain	Start	End	E-Value	Type
Pfam:Yippee-Mis18	20	114	5.4e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106359
AA Change: V83G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132643

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145762
AA Change: V54G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115596
Gene: ENSMUSG00000042675
AA Change: V54G

Domain	Start	End	E-Value	Type
Pfam:Yippee-Mis18	20	103	2.5e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170882
AA Change: V54G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128753
Gene: ENSMUSG00000042675
AA Change: V54G

Domain	Start	End	E-Value	Type
Pfam:Yippee-Mis18	20	114	5.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172352

SMART Domains

Protein: ENSMUSP00000126418
Gene: ENSMUSG00000030699

Domain	Start	End	E-Value	Type
low complexity region	55	75	N/A	INTRINSIC
TBOX	90	278	1.79e-128	SMART
low complexity region	333	349	N/A	INTRINSIC
low complexity region	415	429	N/A	INTRINSIC

Meta Mutation Damage Score

0.9259

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.8%
20x: 96.4%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankfn1	T	G	11: 89,344,003 (GRCm39)	Q326H	probably benign	Het
Carf	G	A	1: 60,187,124 (GRCm39)	V576I	probably benign	Het
Ccnl1	C	T	3: 65,865,291 (GRCm39)	D87N	possibly damaging	Het
Cgref1	T	A	5: 31,091,749 (GRCm39)	D111V	possibly damaging	Het
Cnot4	G	A	6: 35,023,222 (GRCm39)	P567S	unknown	Het
Cyp7b1	A	T	3: 18,151,765 (GRCm39)	D149E	probably benign	Het
Dcc	A	T	18: 71,511,783 (GRCm39)	D877E	probably benign	Het
Dhx8	T	A	11: 101,654,808 (GRCm39)	I1032N	probably damaging	Het
Dnah7b	A	G	1: 46,272,913 (GRCm39)	Y2347C	probably damaging	Het
Dtx3	A	G	10: 127,029,041 (GRCm39)	S63P	possibly damaging	Het
Dyrk2	C	T	10: 118,695,789 (GRCm39)	E490K	probably benign	Het
Fcgbp	A	C	7: 27,804,496 (GRCm39)	Y1868S	probably damaging	Het
Foxa2	T	C	2: 147,885,768 (GRCm39)	H355R	probably benign	Het
Fpr-rs7	A	G	17: 20,334,055 (GRCm39)	V145A	possibly damaging	Het
Gm14137	A	T	2: 119,005,837 (GRCm39)	E132V	probably benign	Het
Gpn2	T	C	4: 133,315,873 (GRCm39)	S211P	possibly damaging	Het
Greb1l	A	T	18: 10,474,357 (GRCm39)	Q224L	possibly damaging	Het
Gspt1	A	G	16: 11,058,532 (GRCm39)	V144A	probably benign	Het
Ifi204	A	G	1: 173,589,188 (GRCm39)	I81T	possibly damaging	Het
Il27ra	T	A	8: 84,767,720 (GRCm39)		probably null	Het
Kif21a	T	C	15: 90,852,645 (GRCm39)	T862A	probably benign	Het
Klf2	T	C	8: 73,074,088 (GRCm39)		probably null	Het
Kmt2e	A	G	5: 23,706,952 (GRCm39)	Y1505C	probably damaging	Het
Mcm9	T	C	10: 53,499,076 (GRCm39)	T216A		Het
Muc16	T	C	9: 18,556,972 (GRCm39)	E3107G	unknown	Het
Ncor2	C	T	5: 125,114,957 (GRCm39)	V169I		Het
Oas3	T	C	5: 120,915,565 (GRCm39)	Q42R	probably benign	Het
Or2l5	A	G	16: 19,333,846 (GRCm39)	V180A	possibly damaging	Het
Or4p8	T	C	2: 88,727,013 (GRCm39)	*309W	probably null	Het
Pde10a	A	G	17: 9,193,647 (GRCm39)	Y693C	possibly damaging	Het
Pde11a	T	C	2: 76,041,383 (GRCm39)	E429G	possibly damaging	Het
Pramel23	A	G	4: 143,425,835 (GRCm39)	F36S	probably damaging	Het
Pygo1	A	G	9: 72,852,140 (GRCm39)	H109R	probably damaging	Het
Rbsn	A	T	6: 92,167,003 (GRCm39)	V547D	probably benign	Het
Ros1	A	G	10: 52,001,933 (GRCm39)	I1084T	possibly damaging	Het
Sis	T	C	3: 72,796,378 (GRCm39)	D1801G	probably benign	Het
Slco4c1	C	T	1: 96,748,970 (GRCm39)	G649E	probably damaging	Het
Spmip10	A	G	18: 56,727,653 (GRCm39)	D117G	probably damaging	Het
Sptbn2	A	T	19: 4,787,431 (GRCm39)	I914F	possibly damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Strc	C	T	2: 121,197,219 (GRCm39)	G1503R	probably damaging	Het
Sv2c	T	A	13: 96,225,171 (GRCm39)	Y46F	probably damaging	Het
Tctn3	A	T	19: 40,593,785 (GRCm39)	W462R	probably damaging	Het
Tjp3	T	C	10: 81,109,525 (GRCm39)	D857G	probably benign	Het
Tor1aip2	C	T	1: 155,939,414 (GRCm39)	T242I	possibly damaging	Het
Ttn	T	A	2: 76,800,273 (GRCm39)	I312F	unknown	Het
Vezt	T	C	10: 93,775,154 (GRCm39)	N94D		Het
Vmn2r105	T	C	17: 20,454,966 (GRCm39)	N57D	probably benign	Het
Wdr59	T	C	8: 112,212,011 (GRCm39)	D353G		Het
Ykt6	T	C	11: 5,909,368 (GRCm39)	V59A	probably damaging	Het
Zfp386	T	A	12: 116,023,268 (GRCm39)	C329S	possibly damaging	Het
Zfp451	A	T	1: 33,821,156 (GRCm39)	L232H	possibly damaging	Het
Zfp648	A	G	1: 154,081,110 (GRCm39)	H423R	probably damaging	Het
Zfp729b	T	C	13: 67,740,861 (GRCm39)	Y468C	probably damaging	Het

Other mutations in Ypel3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01486:Ypel3	APN	7	126,377,033 (GRCm39)	missense	probably damaging	1.00
IGL03167:Ypel3	APN	7	126,379,247 (GRCm39)	missense	probably damaging	1.00
Yelp	UTSW	7	126,377,537 (GRCm39)	missense	possibly damaging	0.93
Ypres	UTSW	7	126,377,269 (GRCm39)	missense	possibly damaging	0.94
R4084:Ypel3	UTSW	7	126,377,537 (GRCm39)	missense	possibly damaging	0.93
R4105:Ypel3	UTSW	7	126,377,265 (GRCm39)	missense	probably damaging	1.00
R4911:Ypel3	UTSW	7	126,376,961 (GRCm39)	missense	probably benign
R5435:Ypel3	UTSW	7	126,374,960 (GRCm39)	unclassified	probably benign
R6119:Ypel3	UTSW	7	126,377,537 (GRCm39)	missense	possibly damaging	0.93
R7372:Ypel3	UTSW	7	126,379,200 (GRCm39)	missense	probably benign	0.23
R7816:Ypel3	UTSW	7	126,377,013 (GRCm39)	missense	probably damaging	1.00
R9432:Ypel3	UTSW	7	126,379,262 (GRCm39)	missense	probably benign	0.01
R9771:Ypel3	UTSW	7	126,379,226 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCTACTTGGATGACTGTC -3'
(R):5'- CACATTCACTCTGTGGGGAC -3'

Sequencing Primer
(F):5'- CTACTTGGATGACTGTCACCGGAG -3'
(R):5'- TGGGGACAAAGGGTAGTCCC -3'

Posted On

2020-06-30