Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01155:Unc119'

52410

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Unc119

Ensembl Gene

ENSMUSG00000002058

Gene Name

unc-119 lipid binding chaperone

Synonyms

UNC119, Unc119h, MRG4, HRG4, Rtg4, Rg4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01155

Quality Score

Status

Chromosome

Chromosomal Location

78343482-78349164 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78348609 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 252 (N252S)

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: N230S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000002127
Gene: ENSMUSG00000002058
AA Change: N230S

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: N165S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098318
Gene: ENSMUSG00000002058
AA Change: N165S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108295
AA Change: N252S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103930
Gene: ENSMUSG00000002058
AA Change: N252S

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Adgrl3	T	A	5: 81,560,893	I409N	probably benign	Het
Akap13	A	G	7: 75,569,936	D29G	probably damaging	Het
Ap4e1	C	A	2: 127,043,445	T322K	probably damaging	Het
Arfgef1	G	A	1: 10,198,982		probably benign	Het
Asic5	A	G	3: 82,008,588	T282A	probably benign	Het
Bptf	T	C	11: 107,080,727	T985A	probably damaging	Het
Btnl9	A	G	11: 49,175,691	F349L	probably damaging	Het
Bves	T	A	10: 45,353,859	I253K	probably damaging	Het
Cars	T	A	7: 143,569,849	Y455F	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cuedc2	C	A	19: 46,332,649	V15F	probably damaging	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Fat1	G	A	8: 45,023,949	A2011T	probably damaging	Het
Fyb2	C	T	4: 104,999,386	T533I	probably benign	Het
Gm1043	T	C	5: 37,187,089	L182P	probably damaging	Het
Ice1	A	T	13: 70,604,082	V1295E	possibly damaging	Het
Il12b	T	A	11: 44,404,088	S18T	probably benign	Het
Iqcg	A	G	16: 33,040,875	V157A	probably damaging	Het
Itgax	T	A	7: 128,145,035	M937K	probably benign	Het
Large1	T	C	8: 73,131,989	S84G	probably benign	Het
Lrp1b	T	C	2: 41,770,935	T54A	probably benign	Het
Mfn1	A	G	3: 32,542,836	M148V	probably damaging	Het
Mobp	C	A	9: 120,168,234	T73K	probably benign	Het
Ms4a3	T	C	19: 11,629,655		probably benign	Het
Muc5ac	C	T	7: 141,806,943		probably benign	Het
Mzt2	A	C	16: 15,862,410	S104A	possibly damaging	Het
Naa16	T	A	14: 79,384,715	K27N	probably damaging	Het
Nos1	T	A	5: 117,945,926	I1267N	probably damaging	Het
Olfr16	T	A	1: 172,956,924	I43N	probably benign	Het
Rara	A	G	11: 98,968,184	E153G	possibly damaging	Het
Scn2a	T	G	2: 65,717,748	S66A	probably damaging	Het
Slc6a1	A	T	6: 114,314,465		probably null	Het
Sorbs3	A	G	14: 70,199,341	V136A	probably damaging	Het
Spink5	T	A	18: 43,981,147	H143Q	probably benign	Het
Susd2	G	A	10: 75,640,892	T99I	possibly damaging	Het
T	C	T	17: 8,441,745		probably null	Het
Tac2	G	A	10: 127,726,134		probably null	Het
Tfap4	G	T	16: 4,547,359	P180T	probably damaging	Het
Trap1	G	A	16: 4,043,978	Q641*	probably null	Het

Other mutations in Unc119

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Unc119	APN	11	78347226	missense	probably damaging	0.99
IGL03164:Unc119	APN	11	78348176	missense	probably damaging	1.00
R2166:Unc119	UTSW	11	78347335	splice site	probably null
R4298:Unc119	UTSW	11	78348122	missense	probably damaging	0.98
R5584:Unc119	UTSW	11	78348570	missense	probably damaging	1.00
R6594:Unc119	UTSW	11	78347220	missense	probably damaging	1.00
R7001:Unc119	UTSW	11	78348554	missense	probably damaging	0.99
R7322:Unc119	UTSW	11	78348623	missense	probably damaging	1.00
R7401:Unc119	UTSW	11	78347245	missense	probably benign	0.00
R7675:Unc119	UTSW	11	78343597	missense	probably damaging	1.00
R8700:Unc119	UTSW	11	78347311	missense	probably benign	0.22

Posted On

2013-06-21