Mutagenetix > Incidental Mutation

Incidental Mutation 'R4166:Prol1'

320576

Institutional Source

Beutler Lab

Gene Symbol

Prol1

Ensembl Gene

ENSMUSG00000064156

Gene Name

proline rich, lacrimal 1

Synonyms

Muc10

MMRRC Submission

041639-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4166 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88317312-88328814 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88328671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 307 (I307F)

Ref Sequence

ENSEMBL: ENSMUSP00000132678 (fasta)

Gene Model

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

AlphaFold

E9PYQ4

Predicted Effect

unknown
Transcript: ENSMUST00000170832
AA Change: I307F

SMART Domains

Protein: ENSMUSP00000132678
Gene: ENSMUSG00000064156
AA Change: I307F

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,660,955 (GRCm38)	T1018A	possibly damaging	Het
Aak1	T	A	6: 86,850,062 (GRCm38)	F4I	probably damaging	Het
Adamts8	G	T	9: 30,951,388 (GRCm38)	E296D	probably benign	Het
Ankrd35	T	A	3: 96,679,155 (GRCm38)		probably null	Het
Arhgap20	G	A	9: 51,826,835 (GRCm38)		probably null	Het
Bhmt	T	A	13: 93,625,499 (GRCm38)		probably benign	Het
Cacna1b	C	A	2: 24,677,911 (GRCm38)	R1055L	probably benign	Het
Cdk5r1	A	G	11: 80,478,209 (GRCm38)	Y234C	probably damaging	Het
Cdx2	G	T	5: 147,306,729 (GRCm38)	A85D	possibly damaging	Het
Cenpe	G	A	3: 135,243,718 (GRCm38)	G88D	probably damaging	Het
Cfap300	A	T	9: 8,026,070 (GRCm38)	L167Q	probably damaging	Het
Dennd5a	A	C	7: 109,926,825 (GRCm38)		probably null	Het
Erich6	G	A	3: 58,618,808 (GRCm38)	A591V	probably damaging	Het
Espl1	A	G	15: 102,312,989 (GRCm38)	I944V	probably damaging	Het
Fbln5	A	G	12: 101,757,359 (GRCm38)	V374A	probably damaging	Het
Fmn1	G	A	2: 113,636,735 (GRCm38)	S1327N	probably benign	Het
Fnip2	A	T	3: 79,462,135 (GRCm38)	V1081E	probably damaging	Het
Gm5174	A	G	10: 86,656,933 (GRCm38)		noncoding transcript	Het
Gpaa1	A	C	15: 76,332,467 (GRCm38)		probably benign	Het
Grina	T	A	15: 76,249,329 (GRCm38)	L334Q	probably damaging	Het
Gulp1	T	A	1: 44,708,669 (GRCm38)	Y27*	probably null	Het
Kdm3b	A	T	18: 34,795,744 (GRCm38)	I183F	probably benign	Het
Loxhd1	A	T	18: 77,372,329 (GRCm38)	I758F	probably damaging	Het
Msi2	T	C	11: 88,347,088 (GRCm38)	H346R	probably benign	Het
Naip6	T	A	13: 100,316,149 (GRCm38)	I135F	probably benign	Het
Npr3	T	G	15: 11,848,513 (GRCm38)	E202A	probably benign	Het
Nsun4	A	T	4: 116,034,051 (GRCm38)	L377Q	probably damaging	Het
Oog2	A	C	4: 144,194,841 (GRCm38)	H107P	probably damaging	Het
Or14c40	C	A	7: 86,664,394 (GRCm38)	T244N	probably damaging	Het
Otof	A	G	5: 30,382,418 (GRCm38)	L1032P	probably damaging	Het
Pcdh9	T	A	14: 93,887,520 (GRCm38)	R405*	probably null	Het
Pcdhb19	T	A	18: 37,499,190 (GRCm38)	N679K	probably benign	Het
Pigr	G	A	1: 130,841,817 (GRCm38)	D122N	probably benign	Het
Pycr1	T	C	11: 120,642,123 (GRCm38)	I104V	probably benign	Het
Ralgapa1	C	T	12: 55,640,644 (GRCm38)	R2019Q	probably damaging	Het
Rb1cc1	T	C	1: 6,265,663 (GRCm38)		probably benign	Het
Skint11	C	A	4: 114,244,659 (GRCm38)	Q99K	probably benign	Het
Skint3	A	G	4: 112,255,635 (GRCm38)	I147M	possibly damaging	Het
Slc22a14	T	G	9: 119,178,432 (GRCm38)	M304L	probably benign	Het
Slc22a14	T	C	9: 119,179,868 (GRCm38)	N178S	possibly damaging	Het
Slc2a1	T	G	4: 119,133,116 (GRCm38)	I179S	probably damaging	Het
Slco2b1	G	T	7: 99,660,126 (GRCm38)	T666N	probably benign	Het
Smap1	T	C	1: 23,848,425 (GRCm38)	M258V	probably benign	Het
Smr3a	A	T	5: 88,008,154 (GRCm38)		probably benign	Het
Stt3b	T	A	9: 115,254,901 (GRCm38)	E402D	probably damaging	Het
Sync	T	C	4: 129,306,742 (GRCm38)		probably benign	Het
Tbx20	T	A	9: 24,769,744 (GRCm38)	I151F	probably damaging	Het
Tomm22	C	A	15: 79,671,005 (GRCm38)		probably benign	Het
Trank1	C	A	9: 111,373,524 (GRCm38)	Y1652*	probably null	Het
Trim34a	T	A	7: 104,261,016 (GRCm38)	C342S	probably benign	Het
Txnl4a	T	A	18: 80,222,256 (GRCm38)	M112K	probably benign	Het
Zfp146	A	G	7: 30,162,440 (GRCm38)	V59A	possibly damaging	Het

Other mutations in Prol1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Prol1	APN	5	88,327,859 (GRCm38)	missense	probably benign	0.31
IGL00500:Prol1	APN	5	88,328,691 (GRCm38)	makesense	probably null
IGL01943:Prol1	APN	5	88,327,961 (GRCm38)	missense	probably benign	0.03
IGL03291:Prol1	APN	5	88,328,520 (GRCm38)	missense	unknown
R2144:Prol1	UTSW	5	88,328,395 (GRCm38)	missense	unknown
R2888:Prol1	UTSW	5	88,328,309 (GRCm38)	missense	unknown
R3849:Prol1	UTSW	5	88,328,617 (GRCm38)	missense	unknown
R4078:Prol1	UTSW	5	88,328,216 (GRCm38)	missense	unknown
R4079:Prol1	UTSW	5	88,328,216 (GRCm38)	missense	unknown
R5447:Prol1	UTSW	5	88,328,266 (GRCm38)	missense	unknown
R5709:Prol1	UTSW	5	88,327,852 (GRCm38)	nonsense	probably null
R6253:Prol1	UTSW	5	88,327,877 (GRCm38)	missense	probably damaging	0.97
R7804:Prol1	UTSW	5	88,328,405 (GRCm38)	missense	unknown
R7935:Prol1	UTSW	5	88,328,015 (GRCm38)	missense	probably damaging	0.97
R9697:Prol1	UTSW	5	88,318,567 (GRCm38)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AACCACAAATGCAACCACACCA -3'
(R):5'- GCCTGACCATGCCTACATAA -3'

Sequencing Primer
(F):5'- TGCAACCACACCAGCAAC -3'
(R):5'- ACCAAACCTGTTTAGCATTGGTGG -3'

Posted On

2015-06-12