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

MRG4, Rtg4, Rg4, UNC119, HRG4, Unc119h

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01155

Quality Score

Status

Chromosome

Chromosomal Location

78234321-78239990 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78239435 bp (GRCm39)

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: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Adgrl3	T	A	5: 81,708,740 (GRCm39)	I409N	probably benign	Het
Akap13	A	G	7: 75,219,684 (GRCm39)	D29G	probably damaging	Het
Ap4e1	C	A	2: 126,885,365 (GRCm39)	T322K	probably damaging	Het
Arfgef1	G	A	1: 10,269,207 (GRCm39)		probably benign	Het
Asic5	A	G	3: 81,915,895 (GRCm39)	T282A	probably benign	Het
Bptf	T	C	11: 106,971,553 (GRCm39)	T985A	probably damaging	Het
Btnl9	A	G	11: 49,066,518 (GRCm39)	F349L	probably damaging	Het
Bves	T	A	10: 45,229,955 (GRCm39)	I253K	probably damaging	Het
Cars1	T	A	7: 143,123,586 (GRCm39)	Y455F	probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cuedc2	C	A	19: 46,321,088 (GRCm39)	V15F	probably damaging	Het
Defa22	T	A	8: 21,653,053 (GRCm39)		probably null	Het
Fat1	G	A	8: 45,476,986 (GRCm39)	A2011T	probably damaging	Het
Fyb2	C	T	4: 104,856,583 (GRCm39)	T533I	probably benign	Het
Gm1043	T	C	5: 37,344,433 (GRCm39)	L182P	probably damaging	Het
Ice1	A	T	13: 70,752,201 (GRCm39)	V1295E	possibly damaging	Het
Il12b	T	A	11: 44,294,915 (GRCm39)	S18T	probably benign	Het
Iqcg	A	G	16: 32,861,245 (GRCm39)	V157A	probably damaging	Het
Itgax	T	A	7: 127,744,207 (GRCm39)	M937K	probably benign	Het
Large1	T	C	8: 73,858,617 (GRCm39)	S84G	probably benign	Het
Lrp1b	T	C	2: 41,660,947 (GRCm39)	T54A	probably benign	Het
Mfn1	A	G	3: 32,596,985 (GRCm39)	M148V	probably damaging	Het
Mobp	C	A	9: 119,997,300 (GRCm39)	T73K	probably benign	Het
Ms4a3	T	C	19: 11,607,019 (GRCm39)		probably benign	Het
Muc5ac	C	T	7: 141,360,680 (GRCm39)		probably benign	Het
Mzt2	A	C	16: 15,680,274 (GRCm39)	S104A	possibly damaging	Het
Naa16	T	A	14: 79,622,155 (GRCm39)	K27N	probably damaging	Het
Nos1	T	A	5: 118,083,991 (GRCm39)	I1267N	probably damaging	Het
Or10j5	T	A	1: 172,784,491 (GRCm39)	I43N	probably benign	Het
Rara	A	G	11: 98,859,010 (GRCm39)	E153G	possibly damaging	Het
Scn2a	T	G	2: 65,548,092 (GRCm39)	S66A	probably damaging	Het
Slc6a1	A	T	6: 114,291,426 (GRCm39)		probably null	Het
Sorbs3	A	G	14: 70,436,790 (GRCm39)	V136A	probably damaging	Het
Spink5	T	A	18: 44,114,214 (GRCm39)	H143Q	probably benign	Het
Susd2	G	A	10: 75,476,726 (GRCm39)	T99I	possibly damaging	Het
T	C	T	17: 8,660,577 (GRCm39)		probably null	Het
Tac2	G	A	10: 127,562,003 (GRCm39)		probably null	Het
Tfap4	G	T	16: 4,365,223 (GRCm39)	P180T	probably damaging	Het
Trap1	G	A	16: 3,861,842 (GRCm39)	Q641*	probably null	Het

Other mutations in Unc119

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Unc119	APN	11	78,238,052 (GRCm39)	missense	probably damaging	0.99
IGL03164:Unc119	APN	11	78,239,002 (GRCm39)	missense	probably damaging	1.00
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

2013-06-21