Mutagenetix > Incidental Mutation

Incidental Mutation 'R6594:Unc119'

524802

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

044718-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6594 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78234321-78239990 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78238046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 10 (Y10N)

Ref Sequence

ENSEMBL: ENSMUSP00000098318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002127] [ENSMUST00000048073] [ENSMUST00000100755] [ENSMUST00000108295]

AlphaFold

Q9Z2R6

Predicted Effect

probably damaging
Transcript: ENSMUST00000002127
AA Change: Y75N

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

SMART Domains

Protein: ENSMUSP00000002127
Gene: ENSMUSG00000002058
AA Change: Y75N

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: ENSMUST00000048073

SMART Domains

Protein: ENSMUSP00000044871
Gene: ENSMUSG00000041958

Domain	Start	End	E-Value	Type
Pfam:PIG-S	22	547	3.3e-144	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100755
AA Change: Y10N

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

SMART Domains

Protein: ENSMUSP00000098318
Gene: ENSMUSG00000002058
AA Change: Y10N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108295
AA Change: Y75N

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103930
Gene: ENSMUSG00000002058
AA Change: Y75N

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

0.9607

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (52/54)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,113,432 (GRCm39)	N296S	probably benign	Het
Abca13	A	T	11: 9,244,632 (GRCm39)	N2165I	possibly damaging	Het
Anpep	T	A	7: 79,491,109 (GRCm39)		probably null	Het
Bcl2a1b	A	C	9: 89,089,647 (GRCm39)	I145L	probably benign	Het
Ccar2	G	A	14: 70,377,925 (GRCm39)	L687F	probably damaging	Het
Cd69	A	G	6: 129,246,537 (GRCm39)		probably null	Het
Chchd10	A	C	10: 75,772,158 (GRCm39)	Q43P	probably damaging	Het
Ddx55	A	G	5: 124,704,988 (GRCm39)	E415G	probably damaging	Het
Defa41	A	G	8: 21,692,471 (GRCm39)		probably null	Het
Dhx40	A	T	11: 86,676,599 (GRCm39)	C172S	possibly damaging	Het
Epha1	G	A	6: 42,341,625 (GRCm39)	T475I	probably benign	Het
Eri1	T	C	8: 35,949,687 (GRCm39)	T91A	probably damaging	Het
Fscn1	C	T	5: 142,955,783 (GRCm39)	A158V	probably benign	Het
Gm11437	C	T	11: 84,055,386 (GRCm39)	G77R	probably null	Het
Golm1	T	C	13: 59,812,041 (GRCm39)	N94D	possibly damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Haus4	C	A	14: 54,781,268 (GRCm39)	E269D	possibly damaging	Het
Hyou1	T	C	9: 44,300,619 (GRCm39)	M896T	probably benign	Het
Itpr2	T	A	6: 146,091,978 (GRCm39)	M2174L	possibly damaging	Het
Kars1	T	C	8: 112,720,299 (GRCm39)		probably benign	Het
Kif1a	T	C	1: 92,949,035 (GRCm39)	M1488V	probably benign	Het
Lrp2	T	C	2: 69,270,267 (GRCm39)	T4106A	possibly damaging	Het
Lrrc20	G	A	10: 61,318,225 (GRCm39)	V16I	possibly damaging	Het
Mecr	T	A	4: 131,582,004 (GRCm39)	V162E	probably damaging	Het
Ms4a4a	C	A	19: 11,363,778 (GRCm39)	A102E	probably damaging	Het
Mycn	T	C	12: 12,990,051 (GRCm39)	D115G	probably damaging	Het
Ninj2	A	T	6: 120,175,750 (GRCm39)	T138S	possibly damaging	Het
Oasl2	G	A	5: 115,044,836 (GRCm39)	V121I	probably benign	Het
Or10s1	T	C	9: 39,986,239 (GRCm39)	L216P	probably damaging	Het
Or2r11	A	T	6: 42,437,309 (GRCm39)	S215T	probably benign	Het
Or7g19	T	C	9: 18,856,127 (GRCm39)	F61S	probably damaging	Het
Pcdha11	A	C	18: 37,144,235 (GRCm39)	I109L	probably benign	Het
Pira1	T	A	7: 3,739,498 (GRCm39)	K457*	probably null	Het
Pon1	A	G	6: 5,185,314 (GRCm39)	L62P	probably damaging	Het
Rp1l1	A	T	14: 64,269,126 (GRCm39)	K1571*	probably null	Het
Sec24d	G	T	3: 123,087,412 (GRCm39)	G193C	probably damaging	Het
Sema3b	A	T	9: 107,476,025 (GRCm39)	M732K	probably benign	Het
Serpinb8	T	C	1: 107,525,201 (GRCm39)	M1T	probably null	Het
Sgip1	T	A	4: 102,819,676 (GRCm39)	V594E	probably damaging	Het
Slc3a2	T	C	19: 8,685,410 (GRCm39)	S197G	probably damaging	Het
Slc44a5	T	C	3: 153,964,660 (GRCm39)	V520A	possibly damaging	Het
Surf6	G	T	2: 26,792,761 (GRCm39)	D13E	possibly damaging	Het
Tmem94	G	A	11: 115,689,112 (GRCm39)	R1341H	probably damaging	Het
Tns2	G	A	15: 102,018,994 (GRCm39)	R395Q	probably benign	Het
Traf7	A	G	17: 24,728,813 (GRCm39)	V591A	possibly damaging	Het
Trim72	T	C	7: 127,609,220 (GRCm39)	S341P	probably damaging	Het
Trps1	A	G	15: 50,694,351 (GRCm39)	V398A	probably damaging	Het
Ube2m	C	A	7: 12,771,617 (GRCm39)	E14*	probably null	Het
Ush2a	T	C	1: 188,642,995 (GRCm39)	L4119P	possibly damaging	Het
Vcp	A	T	4: 42,993,826 (GRCm39)	I102N	probably damaging	Het
Vmn2r4	A	G	3: 64,296,731 (GRCm39)	S685P	probably damaging	Het
Vmn2r58	T	C	7: 41,486,535 (GRCm39)	M787V	possibly damaging	Het
Vmn2r72	T	C	7: 85,398,892 (GRCm39)	H487R	probably benign	Het
Xcr1	A	G	9: 123,685,309 (GRCm39)	I151T	probably benign	Het
Zfp658	T	C	7: 43,216,701 (GRCm39)	S24P	possibly damaging	Het
Zfyve16	T	C	13: 92,650,326 (GRCm39)	D886G	probably benign	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
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
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'- CATGACAACATGCTGTCCCC -3'
(R):5'- TATGCTAGAGTCCAAGCCTGG -3'

Sequencing Primer
(F):5'- CTGCACTGTAGGTACTTTTCAAG -3'
(R):5'- TTCCTGTGGCTCAAAGAACCTAG -3'

Posted On

2018-06-22