Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01486:Ypel3'

88745

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ypel3

Ensembl Gene

ENSMUSG00000042675

Gene Name

yippee like 3

Synonyms

Suap, 1190001G19Rik, 0610043B10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01486

Quality Score

Status

Chromosome

Chromosomal Location

126376135-126379682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126377033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 38 (T38A)

Ref Sequence

ENSEMBL: ENSMUSP00000101966 (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

probably benign
Transcript: ENSMUST00000038614
AA Change: T9A

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037332
Gene: ENSMUSG00000042675
AA Change: T9A

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

probably benign
Transcript: ENSMUST00000106356
AA Change: T9A

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101963
Gene: ENSMUSG00000042675
AA Change: T9A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106357
AA Change: T9A

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101964
Gene: ENSMUSG00000042675
AA Change: T9A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106359
AA Change: T38A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

unknown
Transcript: ENSMUST00000132643
AA Change: T9A

Predicted Effect

probably damaging
Transcript: ENSMUST00000145762
AA Change: T9A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115596
Gene: ENSMUSG00000042675
AA Change: T9A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170882
AA Change: T9A

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128753
Gene: ENSMUSG00000042675
AA Change: T9A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205660

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alx3	G	T	3: 107,512,139 (GRCm39)	C259F	probably damaging	Het
Ampd3	G	T	7: 110,409,123 (GRCm39)		probably benign	Het
Atm	T	C	9: 53,421,513 (GRCm39)	I733V	probably benign	Het
Chrd	A	G	16: 20,552,890 (GRCm39)		probably null	Het
Ckm	G	A	7: 19,155,156 (GRCm39)	G262S	probably damaging	Het
Fbn1	A	G	2: 125,231,898 (GRCm39)	V412A	probably benign	Het
Fbxw22	G	T	9: 109,207,941 (GRCm39)	S443R	probably damaging	Het
Hdgfl2	G	T	17: 56,405,733 (GRCm39)	A481S	possibly damaging	Het
Hmcn2	G	A	2: 31,226,633 (GRCm39)	V203M	probably damaging	Het
Kdelr3	T	A	15: 79,407,048 (GRCm39)	V43D	probably damaging	Het
Klk1b8	A	G	7: 43,453,113 (GRCm39)	K235E	probably benign	Het
Macir	A	T	1: 97,573,731 (GRCm39)	S111R	probably damaging	Het
Mapk1	A	T	16: 16,836,144 (GRCm39)		probably benign	Het
Nfic	T	C	10: 81,243,478 (GRCm39)		probably null	Het
Pkd1l2	T	C	8: 117,786,331 (GRCm39)	T625A	probably benign	Het
Psd2	A	G	18: 36,113,388 (GRCm39)	S287G	probably benign	Het
Smap2	A	T	4: 120,830,395 (GRCm39)	F247I	probably damaging	Het
Spata4	T	C	8: 55,055,341 (GRCm39)		probably benign	Het
Tff2	T	G	17: 31,361,316 (GRCm39)	E79A	probably benign	Het
Thsd7a	C	T	6: 12,471,079 (GRCm39)	C513Y	probably damaging	Het
Tshz1	A	G	18: 84,031,634 (GRCm39)	S925P	possibly damaging	Het
Xrcc4	C	A	13: 90,210,151 (GRCm39)	E98*	probably null	Het
Zfhx2	C	T	14: 55,304,547 (GRCm39)	G1146R	probably damaging	Het
Zfp446	T	A	7: 12,713,307 (GRCm39)		probably null	Het

Other mutations in Ypel3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-11-18