Mutagenetix > Incidental Mutation

Incidental Mutation 'R4105:Ypel3'

321349

Institutional Source

Beutler Lab

Gene Symbol

Ypel3

Ensembl Gene

ENSMUSG00000042675

Gene Name

yippee like 3

Synonyms

Suap, 1190001G19Rik, 0610043B10Rik

MMRRC Submission

040985-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4105 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126376135-126379682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126377265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 82 (S82P)

Ref Sequence

ENSEMBL: ENSMUSP00000101966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032944] [ENSMUST00000038614] [ENSMUST00000094037] [ENSMUST00000106356] [ENSMUST00000106357] [ENSMUST00000106359] [ENSMUST00000170882] [ENSMUST00000145762] [ENSMUST00000132643] [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: S53P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037332
Gene: ENSMUSG00000042675
AA Change: S53P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000068836

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: S53P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101963
Gene: ENSMUSG00000042675
AA Change: S53P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106357
AA Change: S53P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101964
Gene: ENSMUSG00000042675
AA Change: S53P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106359
AA Change: S82P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143078

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170882
AA Change: S53P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128753
Gene: ENSMUSG00000042675
AA Change: S53P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145762
AA Change: S53P

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115596
Gene: ENSMUSG00000042675
AA Change: S53P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206143

Predicted Effect

probably benign
Transcript: ENSMUST00000132643

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

0.5083

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	T	C	3: 89,647,401 (GRCm39)	S127P	probably benign	Het
Arhgap31	A	G	16: 38,422,788 (GRCm39)	S1093P	probably damaging	Het
Asb18	T	C	1: 89,896,243 (GRCm39)	S266G	possibly damaging	Het
Atg9a	A	G	1: 75,162,603 (GRCm39)	Y471H	probably damaging	Het
Atosa	A	G	9: 74,916,058 (GRCm39)	Q226R	probably damaging	Het
Bmper	G	A	9: 23,136,059 (GRCm39)	V47I	probably benign	Het
Cel	T	C	2: 28,448,039 (GRCm39)	D329G	probably benign	Het
Ces2f	T	C	8: 105,677,824 (GRCm39)		probably null	Het
Cyp2j7	T	C	4: 96,087,687 (GRCm39)	T408A	possibly damaging	Het
Dchs1	A	C	7: 105,414,347 (GRCm39)	S823A	probably damaging	Het
Dnajb2	G	T	1: 75,213,543 (GRCm39)	E6*	probably null	Het
Eif2b3	G	A	4: 116,938,831 (GRCm39)	G427R	probably damaging	Het
Eml5	T	C	12: 98,807,807 (GRCm39)		probably null	Het
Fat1	A	G	8: 45,489,888 (GRCm39)	Y3600C	probably damaging	Het
Fbxo10	A	G	4: 45,059,054 (GRCm39)	F228L	probably benign	Het
Fgf7	T	A	2: 125,877,599 (GRCm39)		probably benign	Het
Gm2832	A	T	14: 41,002,856 (GRCm39)	M122L	unknown	Het
Lrrcc1	T	C	3: 14,615,388 (GRCm39)	V73A	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip5	T	C	13: 100,356,247 (GRCm39)	R1123G	probably benign	Het
Nfya	G	T	17: 48,699,912 (GRCm39)	Y37*	probably null	Het
Or2o1	A	G	11: 49,051,375 (GRCm39)	H178R	possibly damaging	Het
Pikfyve	A	G	1: 65,229,679 (GRCm39)		probably benign	Het
Pnma8a	T	C	7: 16,695,104 (GRCm39)	S320P	possibly damaging	Het
Polr1a	A	G	6: 71,953,175 (GRCm39)	N1581S	probably damaging	Het
Polrmt	G	T	10: 79,577,567 (GRCm39)	T344K	probably benign	Het
Postn	T	C	3: 54,283,462 (GRCm39)	F514L	probably damaging	Het
Ptprq	G	T	10: 107,408,828 (GRCm39)	T1895N	probably damaging	Het
Slc15a2	G	T	16: 36,602,755 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,945,075 (GRCm39)	L150Q	probably benign	Het
Slco2a1	T	C	9: 102,950,449 (GRCm39)	F347S	probably damaging	Het
Smim13	T	A	13: 41,426,127 (GRCm39)	D54E	probably benign	Het
Snrnp200	T	A	2: 127,069,936 (GRCm39)	I1027N	probably damaging	Het
Sult6b1	G	T	17: 79,214,291 (GRCm39)	T6N	probably damaging	Het
Tas1r2	G	A	4: 139,387,363 (GRCm39)	R245H	probably benign	Het
Tpo	G	A	12: 30,142,585 (GRCm39)	P713L	probably damaging	Het
Trank1	T	C	9: 111,181,265 (GRCm39)	I429T	probably damaging	Het
Trip11	G	A	12: 101,860,581 (GRCm39)	R254*	probably null	Het
Vmn2r65	A	G	7: 84,595,691 (GRCm39)	V331A	probably benign	Het
Zfp128	T	C	7: 12,618,667 (GRCm39)	L55P	probably damaging	Het
Zscan4e	T	C	7: 11,041,437 (GRCm39)	D173G	probably benign	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
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
R8137:Ypel3	UTSW	7	126,377,269 (GRCm39)	missense	possibly damaging	0.94
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'- AAGACGTTTCAGGCCTACTTG -3'
(R):5'- AGCCACCCTCTAGCTAGTATG -3'

Sequencing Primer
(F):5'- AGGCCTACTTGGATGACTGTCAC -3'
(R):5'- AGCCACCCTCTAGCTAGTATGTTAAG -3'

Posted On

2015-06-12