Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00424:Prol1'

5595

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prol1

Ensembl Gene

ENSMUSG00000064156

Gene Name

proline rich, lacrimal 1

Synonyms

Muc10

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL00424

Quality Score

Status

Chromosome

Chromosomal Location

88317312-88328814 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88327859 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 36 (Y36C)

Ref Sequence

ENSEMBL: ENSMUSP00000132678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170832]

AlphaFold

E9PYQ4

Predicted Effect

probably benign
Transcript: ENSMUST00000170832
AA Change: Y36C

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132678
Gene: ENSMUSG00000064156
AA Change: Y36C

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	40	52	N/A	INTRINSIC
low complexity region	99	295	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	A	G	3: 138,282,499	E108G	probably benign	Het
Afap1l2	A	G	19: 57,002,308		probably benign	Het
Als2cl	T	C	9: 110,886,539		probably null	Het
Bpifb1	A	G	2: 154,217,167		probably benign	Het
Cux2	G	A	5: 121,868,538	R890W	possibly damaging	Het
Fancb	A	C	X: 164,983,338	Q272P	probably damaging	Het
Fmnl1	G	A	11: 103,197,340	W1008*	probably null	Het
Gfra2	T	A	14: 70,968,239		probably benign	Het
Gjd2	A	G	2: 114,011,777	I73T	probably damaging	Het
Itgae	T	C	11: 73,145,635	I1133T	probably benign	Het
Kcnh1	T	A	1: 192,418,882	V594E	probably damaging	Het
Maml2	T	A	9: 13,620,912	V474E	probably damaging	Het
Mysm1	G	A	4: 94,972,909		probably benign	Het
Ntrk3	C	T	7: 78,250,873	A573T	probably benign	Het
Pi4kb	A	G	3: 95,004,263	D348G	probably damaging	Het
Rfx6	T	A	10: 51,681,886	C152S	probably damaging	Het
Rpp14	G	A	14: 8,083,934	G30E	possibly damaging	Het
Tnxb	T	G	17: 34,714,692	F2362C	probably damaging	Het
Tpr	T	A	1: 150,398,595		probably benign	Het
Trf	G	A	9: 103,226,936	A76V	probably damaging	Het
Tubgcp3	C	T	8: 12,621,809	R811H	probably benign	Het
Zfp820	A	T	17: 21,819,311	H345Q	probably damaging	Het

Other mutations in Prol1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Prol1	APN	5	88328691	makesense	probably null
IGL01943:Prol1	APN	5	88327961	missense	probably benign	0.03
IGL03291:Prol1	APN	5	88328520	missense	unknown
R2144:Prol1	UTSW	5	88328395	missense	unknown
R2888:Prol1	UTSW	5	88328309	missense	unknown
R3849:Prol1	UTSW	5	88328617	missense	unknown
R4078:Prol1	UTSW	5	88328216	missense	unknown
R4079:Prol1	UTSW	5	88328216	missense	unknown
R4166:Prol1	UTSW	5	88328671	missense	unknown
R5447:Prol1	UTSW	5	88328266	missense	unknown
R5709:Prol1	UTSW	5	88327852	nonsense	probably null
R6253:Prol1	UTSW	5	88327877	missense	probably damaging	0.97
R7804:Prol1	UTSW	5	88328405	missense	unknown
R7935:Prol1	UTSW	5	88328015	missense	probably damaging	0.97
R9697:Prol1	UTSW	5	88318567	missense	probably benign	0.16

Posted On

2012-04-20