Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00500:Prol1'

5594

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: 0.135) question?

Stock #

IGL00500

Quality Score

Status

Chromosome

Chromosomal Location

88317312-88328814 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 88328691 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Cysteine at position 313 (*313C)

Ref Sequence

ENSEMBL: ENSMUSP00000132678 (fasta)

Gene Model

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

AlphaFold

E9PYQ4

Predicted Effect

probably null
Transcript: ENSMUST00000170832
AA Change: *313C

SMART Domains

Protein: ENSMUSP00000132678
Gene: ENSMUSG00000064156
AA Change: *313C

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	G	7: 119,784,344	E576G	probably damaging	Het
Adnp	A	G	2: 168,183,323	V684A	possibly damaging	Het
Agl	A	G	3: 116,772,820	W965R	probably damaging	Het
AI467606	G	A	7: 127,092,333	V27I	probably benign	Het
Ankrd34b	G	A	13: 92,438,787	G176R	probably benign	Het
Atp2a1	C	T	7: 126,447,216	W72*	probably null	Het
Atp6v1a	T	C	16: 44,111,583	Q114R	probably benign	Het
B4galt2	A	T	4: 117,877,181	L257Q	probably damaging	Het
Chrna10	A	T	7: 102,112,408	C325*	probably null	Het
Clip2	A	G	5: 134,500,157		probably benign	Het
Crocc2	C	T	1: 93,217,044	Q1437*	probably null	Het
Csmd1	C	T	8: 15,921,139	V3059M	probably damaging	Het
Cst10	C	A	2: 149,405,581	S72R	probably damaging	Het
Dapk1	A	G	13: 60,760,804	D1077G	probably damaging	Het
Dhx9	T	C	1: 153,465,748	T585A	probably damaging	Het
Fam210a	G	A	18: 68,275,783	T152I	possibly damaging	Het
Fbn1	T	A	2: 125,317,516	Q2214L	probably damaging	Het
Fpr1	T	A	17: 17,877,001	Q242L	probably benign	Het
G2e3	A	G	12: 51,353,798		probably null	Het
Gcdh	C	T	8: 84,888,517		probably benign	Het
Gm18856	T	C	13: 13,965,734		probably benign	Het
Itgb2	T	A	10: 77,564,724	W724R	probably damaging	Het
Klhl2	T	C	8: 64,749,086	T519A	probably benign	Het
Krtap12-1	G	T	10: 77,720,980	C119F	possibly damaging	Het
Nrap	T	A	19: 56,372,909	K369N	probably damaging	Het
Nrg1	T	A	8: 31,822,314		probably null	Het
Plekhh3	T	A	11: 101,165,693		probably null	Het
Ppm1b	A	G	17: 85,003,284	S289G	probably damaging	Het
Rab40c	T	C	17: 25,885,085	E111G	probably damaging	Het
Skint11	T	A	4: 114,194,709	C85S	probably benign	Het
Slc9a2	G	A	1: 40,763,583	E598K	possibly damaging	Het
Slfn8	T	A	11: 83,013,484	D360V	possibly damaging	Het
Sspo	C	A	6: 48,497,421	C4925*	probably null	Het
Vps8	A	G	16: 21,442,334	T75A	possibly damaging	Het
Wfdc12	A	T	2: 164,190,250	I40N	probably damaging	Het
Zfp608	T	A	18: 54,988,333	T61S	probably benign	Het

Other mutations in Prol1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Prol1	APN	5	88327859	missense	probably benign	0.31
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