Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03291:Prol1'

415915

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: 0.096) question?

Stock #

IGL03291

Quality Score

Status

Chromosome

Chromosomal Location

88465171-88476673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88476379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 256 (K256N)

Ref Sequence

ENSEMBL: ENSMUSP00000132678 (fasta)

Gene Model

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

AlphaFold

E9PYQ4

Predicted Effect

unknown
Transcript: ENSMUST00000170832
AA Change: K256N

SMART Domains

Protein: ENSMUSP00000132678
Gene: ENSMUSG00000064156
AA Change: K256N

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	T	A	7: 144,175,412 (GRCm39)	E502V	probably damaging	Het
Atic	T	C	1: 71,610,081 (GRCm39)	V364A	probably benign	Het
Cfap44	A	T	16: 44,227,674 (GRCm39)	H125L	possibly damaging	Het
Ctnna2	T	A	6: 76,950,695 (GRCm39)	E227V	probably damaging	Het
Ctsf	A	G	19: 4,909,662 (GRCm39)	I378V	probably benign	Het
Eya1	C	T	1: 14,254,572 (GRCm39)		probably null	Het
Fat2	C	T	11: 55,153,421 (GRCm39)	R3597H	probably benign	Het
Gdpd5	T	C	7: 99,109,328 (GRCm39)		probably benign	Het
Glcci1	T	A	6: 8,579,678 (GRCm39)	I293K	probably damaging	Het
Gm16503	T	A	4: 147,625,535 (GRCm39)	Y10N	unknown	Het
Gm5930	A	T	14: 44,568,905 (GRCm39)	I239N	possibly damaging	Het
Grm5	T	C	7: 87,780,004 (GRCm39)	L1148P	probably damaging	Het
Kmt2e	T	A	5: 23,704,289 (GRCm39)	L1161I	probably damaging	Het
Megf9	C	T	4: 70,406,387 (GRCm39)	V260I	probably benign	Het
Mme	T	A	3: 63,253,525 (GRCm39)	D456E	probably benign	Het
Mup8	T	A	4: 60,221,950 (GRCm39)	E61V	probably damaging	Het
Olfml1	A	G	7: 107,189,436 (GRCm39)	D167G	probably damaging	Het
Or51ah3	T	A	7: 103,210,119 (GRCm39)	M145K	possibly damaging	Het
Piezo2	T	C	18: 63,154,379 (GRCm39)	K2467E	probably damaging	Het
Plscr1	T	A	9: 92,148,923 (GRCm39)	F254L	probably damaging	Het
Rapgef4	A	T	2: 72,026,047 (GRCm39)	L339F	probably damaging	Het
Slc27a2	T	C	2: 126,406,670 (GRCm39)	I118T	probably benign	Het
Smim7	A	T	8: 73,323,838 (GRCm39)	F19L	possibly damaging	Het
Svil	T	A	18: 5,056,150 (GRCm39)	L428*	probably null	Het
Tcof1	T	C	18: 60,962,133 (GRCm39)	T699A	possibly damaging	Het
Thsd7b	T	A	1: 129,688,092 (GRCm39)	S668T	possibly damaging	Het
Tmprss7	T	C	16: 45,501,111 (GRCm39)	D230G	probably benign	Het
Tyw1	A	G	5: 130,328,834 (GRCm39)	D540G	probably damaging	Het
Zfp763	A	G	17: 33,238,860 (GRCm39)	V95A	probably damaging	Het

Other mutations in Prol1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Prol1	APN	5	88,475,718 (GRCm39)	missense	probably benign	0.31
IGL00500:Prol1	APN	5	88,476,550 (GRCm39)	makesense	probably null
IGL01943:Prol1	APN	5	88,475,820 (GRCm39)	missense	probably benign	0.03
R2144:Prol1	UTSW	5	88,476,254 (GRCm39)	missense	unknown
R2888:Prol1	UTSW	5	88,476,168 (GRCm39)	missense	unknown
R3849:Prol1	UTSW	5	88,476,476 (GRCm39)	missense	unknown
R4078:Prol1	UTSW	5	88,476,075 (GRCm39)	missense	unknown
R4079:Prol1	UTSW	5	88,476,075 (GRCm39)	missense	unknown
R4166:Prol1	UTSW	5	88,476,530 (GRCm39)	missense	unknown
R5447:Prol1	UTSW	5	88,476,125 (GRCm39)	missense	unknown
R5709:Prol1	UTSW	5	88,475,711 (GRCm39)	nonsense	probably null
R6253:Prol1	UTSW	5	88,475,736 (GRCm39)	missense	probably damaging	0.97
R7804:Prol1	UTSW	5	88,476,264 (GRCm39)	missense	unknown
R7935:Prol1	UTSW	5	88,475,874 (GRCm39)	missense	probably damaging	0.97
R9697:Prol1	UTSW	5	88,466,426 (GRCm39)	missense	probably benign	0.16

Posted On

2016-08-02