Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03164:Unc119'

411548

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Unc119

Ensembl Gene

ENSMUSG00000002058

Gene Name

unc-119 lipid binding chaperone

Synonyms

MRG4, Rtg4, Rg4, UNC119, HRG4, Unc119h

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03164

Quality Score

Status

Chromosome

Chromosomal Location

78234321-78239990 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78239002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 176 (D176G)

Ref Sequence

ENSEMBL: ENSMUSP00000103930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002127] [ENSMUST00000100755] [ENSMUST00000108295]

AlphaFold

Q9Z2R6

Predicted Effect

probably damaging
Transcript: ENSMUST00000002127
AA Change: D176G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002127
Gene: ENSMUSG00000002058
AA Change: D176G

Domain	Start	End	E-Value	Type
low complexity region	6	13	N/A	INTRINSIC
low complexity region	29	54	N/A	INTRINSIC
Pfam:GMP_PDE_delta	78	237	1.6e-81	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100755
AA Change: D111G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098318
Gene: ENSMUSG00000002058
AA Change: D111G

Domain	Start	End	E-Value	Type
Pfam:GMP_PDE_delta	13	172	1.6e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108295
AA Change: D176G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103930
Gene: ENSMUSG00000002058
AA Change: D176G

Domain	Start	End	E-Value	Type
low complexity region	6	13	N/A	INTRINSIC
low complexity region	29	54	N/A	INTRINSIC
Pfam:GMP_PDE_delta	80	212	1.3e-60	PFAM
Pfam:GMP_PDE_delta	218	258	1.5e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155471

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is multifunctional, affecting trafficking of transducin in rod photoreceptors, interacting with src-type tyrosine kinases through SH2 and SH3 interacting domains, and aiding the uptake of bacteria through endocytosis. In addition, the encoded protein acts as a lipid-binding chaperone to help localize some myristoylated proteins correctly. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit retinal degeneration characterized by thinning of the outer nuclear layer of the retinal that is visible at 6 months and progresses rapidly after 17 to end-stage by 26 months. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,947,070 (GRCm39)	D256G	probably damaging	Het
Abcb11	A	T	2: 69,122,343 (GRCm39)	L380*	probably null	Het
Aco1	A	T	4: 40,167,116 (GRCm39)	N110I	probably benign	Het
Adamts9	T	C	6: 92,866,918 (GRCm39)	D126G	probably damaging	Het
Anks1b	T	G	10: 89,878,554 (GRCm39)	V121G	probably damaging	Het
Ap1s3	A	G	1: 79,602,887 (GRCm39)	L40P	probably damaging	Het
Cd19	C	A	7: 126,012,681 (GRCm39)	M237I	possibly damaging	Het
Chil6	T	C	3: 106,301,714 (GRCm39)	T129A	probably benign	Het
Chtf18	A	G	17: 25,945,816 (GRCm39)	M94T	probably benign	Het
Clstn2	G	T	9: 97,681,462 (GRCm39)	D59E	possibly damaging	Het
Cplx3	T	C	9: 57,517,278 (GRCm39)	T369A	probably damaging	Het
Ctnnbl1	A	C	2: 157,659,681 (GRCm39)	M253L	probably benign	Het
Erg	T	C	16: 95,210,730 (GRCm39)	T41A	possibly damaging	Het
Gjd3	T	A	11: 102,691,547 (GRCm39)	N152I	possibly damaging	Het
Ints1	A	G	5: 139,738,490 (GRCm39)	L2084P	probably damaging	Het
Isoc1	C	T	18: 58,806,404 (GRCm39)	S238L	probably damaging	Het
Kdm5a	T	A	6: 120,415,980 (GRCm39)	D1633E	probably damaging	Het
Krt76	T	C	15: 101,795,886 (GRCm39)	D428G	possibly damaging	Het
Lrp2	G	T	2: 69,295,043 (GRCm39)	T3425K	probably damaging	Het
Lta4h	T	C	10: 93,306,659 (GRCm39)		probably benign	Het
Nap1l4	C	T	7: 143,091,953 (GRCm39)		probably null	Het
Nlrp5	T	A	7: 23,117,798 (GRCm39)	Y507*	probably null	Het
Nps	T	C	7: 134,874,039 (GRCm39)	S53P	probably damaging	Het
Oprk1	A	T	1: 5,669,087 (GRCm39)	I178F	probably damaging	Het
Or2a12	C	T	6: 42,905,064 (GRCm39)	R300*	probably null	Het
Or5p1	T	C	7: 107,916,901 (GRCm39)	S267P	probably damaging	Het
Osgin2	G	T	4: 16,001,938 (GRCm39)	S204R	probably benign	Het
Otop1	G	T	5: 38,445,306 (GRCm39)	G155*	probably null	Het
Peli3	A	G	19: 4,986,144 (GRCm39)		probably null	Het
Pex7	T	A	10: 19,770,461 (GRCm39)		probably benign	Het
Pfkm	T	C	15: 98,029,843 (GRCm39)	L749P	probably damaging	Het
Pwp1	T	A	10: 85,714,367 (GRCm39)	F103Y	probably benign	Het
Rhod	T	C	19: 4,482,829 (GRCm39)	K63E	possibly damaging	Het
Rtl1	T	C	12: 109,559,367 (GRCm39)	E824G	probably damaging	Het
Sema4d	A	G	13: 51,862,958 (GRCm39)	F467L	possibly damaging	Het
Septin10	T	C	10: 59,016,921 (GRCm39)	E201G	probably damaging	Het
Slc37a3	G	A	6: 39,322,237 (GRCm39)	T389I	probably benign	Het
Slco2b1	C	T	7: 99,334,743 (GRCm39)	A243T	probably damaging	Het
Sorbs2	A	G	8: 46,235,911 (GRCm39)	T187A	probably benign	Het
Supt20	T	A	3: 54,620,609 (GRCm39)	D389E	probably benign	Het
Tchh	A	G	3: 93,352,699 (GRCm39)	D713G	unknown	Het
Trappc10	T	C	10: 78,056,076 (GRCm39)	R209G	probably damaging	Het
Usb1	G	A	8: 96,060,112 (GRCm39)	R21Q	probably damaging	Het

Other mutations in Unc119

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01155:Unc119	APN	11	78,239,435 (GRCm39)	missense	probably damaging	1.00
IGL01317:Unc119	APN	11	78,238,052 (GRCm39)	missense	probably damaging	0.99
R2166:Unc119	UTSW	11	78,238,161 (GRCm39)	splice site	probably null
R4298:Unc119	UTSW	11	78,238,948 (GRCm39)	missense	probably damaging	0.98
R5584:Unc119	UTSW	11	78,239,396 (GRCm39)	missense	probably damaging	1.00
R6594:Unc119	UTSW	11	78,238,046 (GRCm39)	missense	probably damaging	1.00
R7001:Unc119	UTSW	11	78,239,380 (GRCm39)	missense	probably damaging	0.99
R7322:Unc119	UTSW	11	78,239,449 (GRCm39)	missense	probably damaging	1.00
R7401:Unc119	UTSW	11	78,238,071 (GRCm39)	missense	probably benign	0.00
R7675:Unc119	UTSW	11	78,234,423 (GRCm39)	missense	probably damaging	1.00
R8700:Unc119	UTSW	11	78,238,137 (GRCm39)	missense	probably benign	0.22

Posted On

2016-08-02