Mutagenetix > Incidental Mutation

Incidental Mutation 'R4298:Unc119'

323437

Institutional Source

Beutler Lab

Gene Symbol

Unc119

Ensembl Gene

ENSMUSG00000002058

Gene Name

unc-119 lipid binding chaperone

Synonyms

MRG4, Rtg4, Rg4, UNC119, HRG4, Unc119h

MMRRC Submission

041086-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4298 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78234321-78239990 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78238948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 158 (N158S)

Ref Sequence

ENSEMBL: ENSMUSP00000103930 (fasta)

Gene Model

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

AlphaFold

Q9Z2R6

Predicted Effect

probably benign
Transcript: ENSMUST00000002127
AA Change: N158S

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000002127
Gene: ENSMUSG00000002058
AA Change: N158S

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 benign
Transcript: ENSMUST00000100755
AA Change: N93S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000098318
Gene: ENSMUSG00000002058
AA Change: N93S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108295
AA Change: N158S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103930
Gene: ENSMUSG00000002058
AA Change: N158S

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

Meta Mutation Damage Score

0.1217

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (54/54)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,258,154 (GRCm39)		probably null	Het
Ccser2	T	A	14: 36,612,337 (GRCm39)	Q158L	possibly damaging	Het
Cct7	T	A	6: 85,445,155 (GRCm39)	C469S	probably damaging	Het
Chmp7	A	T	14: 69,956,650 (GRCm39)		probably null	Het
Clcn4	C	T	7: 7,299,737 (GRCm39)	D31N	possibly damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Ctdp1	A	T	18: 80,493,172 (GRCm39)	V441E	probably benign	Het
Cyp4a10	T	C	4: 115,389,889 (GRCm39)	L498P	probably damaging	Het
Dsc3	A	T	18: 20,113,811 (GRCm39)	N370K	possibly damaging	Het
Dusp12	G	A	1: 170,708,198 (GRCm39)	T173M	probably benign	Het
Ebf3	C	T	7: 136,826,958 (GRCm39)	R318Q	possibly damaging	Het
Epcam	T	C	17: 87,947,962 (GRCm39)		probably null	Het
Erich6	G	T	3: 58,531,712 (GRCm39)	A428D	probably benign	Het
Ext1	A	T	15: 53,208,521 (GRCm39)	I80N	probably benign	Het
Extl1	T	C	4: 134,084,969 (GRCm39)	E667G	probably damaging	Het
F2	T	G	2: 91,459,665 (GRCm39)		probably null	Het
Fbxw16	T	C	9: 109,275,625 (GRCm39)	I135V	probably benign	Het
Glipr1l1	A	T	10: 111,898,252 (GRCm39)	D119V	probably benign	Het
Gprc5b	G	A	7: 118,583,437 (GRCm39)	A144V	possibly damaging	Het
Lmbrd2	G	A	15: 9,165,882 (GRCm39)	R252H	possibly damaging	Het
Lyst	A	G	13: 13,809,472 (GRCm39)	T381A	probably damaging	Het
Mcpt4	A	T	14: 56,298,444 (GRCm39)	V97D	possibly damaging	Het
Nefh	A	G	11: 4,890,066 (GRCm39)	I851T	probably benign	Het
Nf1	A	T	11: 79,275,070 (GRCm39)	I44F	probably damaging	Het
Nyap2	A	T	1: 81,218,811 (GRCm39)	I278F	probably damaging	Het
Or4c52	A	T	2: 89,845,993 (GRCm39)	T240S	probably benign	Het
Or4f7d-ps1	G	T	2: 111,674,789 (GRCm39)		noncoding transcript	Het
Pdcd4	C	A	19: 53,908,092 (GRCm39)	P201Q	probably damaging	Het
Pramel16	A	T	4: 143,675,713 (GRCm39)	L371*	probably null	Het
Prdm11	T	C	2: 92,823,728 (GRCm39)	T179A	probably benign	Het
Qrfpr	T	A	3: 36,243,703 (GRCm39)	I133F	probably damaging	Het
Rack1	T	C	11: 48,692,453 (GRCm39)		probably benign	Het
Reln	A	C	5: 22,125,485 (GRCm39)	C2733G	probably damaging	Het
Rrs1	C	T	1: 9,616,448 (GRCm39)	R234C	possibly damaging	Het
Sag	G	C	1: 87,772,737 (GRCm39)	D402H	probably benign	Het
Sbk3	T	A	7: 4,972,979 (GRCm39)	T64S	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Sh3gl1	C	T	17: 56,326,173 (GRCm39)	G111D	probably damaging	Het
Spata20	G	A	11: 94,373,914 (GRCm39)	R379W	probably damaging	Het
St3gal2	T	C	8: 111,688,991 (GRCm39)	M177T	probably benign	Het
Stk39	C	T	2: 68,221,284 (GRCm39)	G213D	probably damaging	Het
Szt2	A	G	4: 118,222,603 (GRCm39)		probably benign	Het
Taf1d	T	C	9: 15,219,939 (GRCm39)	S63P	probably damaging	Het
Tnfrsf13b	C	G	11: 61,031,643 (GRCm39)		probably null	Het
Ttn	G	T	2: 76,554,394 (GRCm39)	A30807D	probably damaging	Het
Vmn2r116	T	A	17: 23,620,801 (GRCm39)	I845N	possibly damaging	Het
Vmn2r12	C	A	5: 109,239,830 (GRCm39)	M244I	probably benign	Het
Zdhhc4	A	G	5: 143,309,997 (GRCm39)	V87A	probably damaging	Het
Zwilch	A	G	9: 64,062,444 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCGCTACCAGTTCACACCTG -3'
(R):5'- AGCAGCTTGGGTTCTACACATC -3'

Sequencing Primer
(F):5'- ACGTGAGTCACTGGGCTG -3'
(R):5'- GGGTTCTACACATCCCCCAC -3'

Posted On

2015-06-20