Mutagenetix > Incidental Mutation

Incidental Mutation 'R9588:Unc119b'

722878

Institutional Source

Beutler Lab

Gene Symbol

Unc119b

Ensembl Gene

ENSMUSG00000046562

Gene Name

unc-119 lipid binding chaperone B

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9588 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115260625-115273034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115272827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 48 (T48M)

Ref Sequence

ENSEMBL: ENSMUSP00000055475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060798]

AlphaFold

Q8C4B4

Predicted Effect

probably benign
Transcript: ENSMUST00000060798
AA Change: T48M

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000055475
Gene: ENSMUSG00000046562
AA Change: T48M

Domain	Start	End	E-Value	Type
low complexity region	18	35	N/A	INTRINSIC
Pfam:GMP_PDE_delta	88	247	3.8e-76	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr5	T	C	2: 158,468,328 (GRCm39)	F153L	possibly damaging	Het
Ano3	T	C	2: 110,528,342 (GRCm39)	K491E	possibly damaging	Het
Arhgap21	C	A	2: 20,858,938 (GRCm39)	C1252F	possibly damaging	Het
Bcat1	T	C	6: 144,950,126 (GRCm39)	N424S	probably benign	Het
Ccdc61	A	G	7: 18,644,266 (GRCm39)		probably benign	Het
Cecr2	T	C	6: 120,733,770 (GRCm39)	S586P	possibly damaging	Het
Chd3	A	G	11: 69,241,046 (GRCm39)	C1516R	probably damaging	Het
Cops5	C	A	1: 10,108,222 (GRCm39)	R5L	unknown	Het
Cpne2	C	A	8: 95,286,781 (GRCm39)	P369Q	possibly damaging	Het
Cyp3a25	G	T	5: 145,921,699 (GRCm39)	Q412K	probably benign	Het
Dbn1	A	G	13: 55,622,785 (GRCm39)	V612A	probably benign	Het
Dnah17	T	C	11: 118,012,783 (GRCm39)	D426G	probably benign	Het
Dolpp1	T	A	2: 30,282,515 (GRCm39)	Y23N	probably damaging	Het
Egf	T	C	3: 129,511,617 (GRCm39)	M517V	probably benign	Het
Fbxw27	ATGT	AT	9: 109,602,322 (GRCm39)		probably null	Het
Foxc1	A	T	13: 31,992,587 (GRCm39)	H466L	unknown	Het
Hsf2bp	A	G	17: 32,241,810 (GRCm39)	L78P	probably damaging	Het
Ikbkb	G	A	8: 23,151,410 (GRCm39)	A738V	unknown	Het
Itgb8	G	T	12: 119,140,754 (GRCm39)	N374K	probably benign	Het
Kif16b	T	A	2: 142,553,804 (GRCm39)	Q998L	possibly damaging	Het
Krtap11-1	A	C	16: 89,368,062 (GRCm39)		probably benign	Het
Lamp3	T	A	16: 19,494,832 (GRCm39)		probably null	Het
Lrrc43	A	T	5: 123,641,307 (GRCm39)	H497L	probably damaging	Het
Mmp1a	C	T	9: 7,467,225 (GRCm39)	T267I	probably benign	Het
Mroh2b	T	A	15: 4,978,130 (GRCm39)	D1299E	probably benign	Het
Ndst4	A	C	3: 125,476,808 (GRCm39)	H11P	probably damaging	Het
Oas1c	A	G	5: 120,946,202 (GRCm39)	F99L	probably benign	Het
Or10s1	T	C	9: 39,986,353 (GRCm39)	L254P	probably damaging	Het
Or14c39	T	A	7: 86,343,948 (GRCm39)	C95S	probably damaging	Het
Or1j11	G	T	2: 36,311,784 (GRCm39)	A125S	probably damaging	Het
Or5w15	G	A	2: 87,568,644 (GRCm39)	T8I	probably benign	Het
Pcdhga3	A	G	18: 37,808,564 (GRCm39)	D339G	probably damaging	Het
Pcsk1	A	T	13: 75,259,039 (GRCm39)	N271I	probably damaging	Het
Pdilt	A	T	7: 119,100,870 (GRCm39)	D160E	probably benign	Het
Psma4	A	T	9: 54,862,245 (GRCm39)	Q123L	probably damaging	Het
Selenbp2	A	T	3: 94,605,368 (GRCm39)	I127F	possibly damaging	Het
Setd5	A	G	6: 113,121,025 (GRCm39)	N1078S	probably damaging	Het
Sorl1	A	C	9: 41,993,105 (GRCm39)	Y306*	probably null	Het
Spata17	T	C	1: 186,849,471 (GRCm39)	K255E	possibly damaging	Het
Surf4	C	A	2: 26,823,622 (GRCm39)		probably benign	Het
Tbc1d16	G	T	11: 119,101,335 (GRCm39)	H58Q	probably damaging	Het
Tfdp2	A	G	9: 96,169,663 (GRCm39)	T5A	probably damaging	Het
Thsd7b	T	G	1: 130,108,223 (GRCm39)	C1313G	probably damaging	Het
Trmt44	A	T	5: 35,727,256 (GRCm39)	C320S	probably damaging	Het
Vit	T	A	17: 78,930,079 (GRCm39)	I348N	probably damaging	Het
Vmn1r184	T	A	7: 25,966,347 (GRCm39)	M31K	probably null	Het
Vmn2r81	A	G	10: 79,129,205 (GRCm39)	T699A	possibly damaging	Het
Xrn1	A	G	9: 95,920,756 (GRCm39)	T1339A	probably benign	Het
Zfp827	T	A	8: 79,905,604 (GRCm39)	H860Q	probably damaging	Het

Other mutations in Unc119b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01645:Unc119b	APN	5	115,265,371 (GRCm39)	missense	probably benign	0.05
IGL02207:Unc119b	APN	5	115,272,813 (GRCm39)	missense	probably benign
R1695:Unc119b	UTSW	5	115,272,885 (GRCm39)	nonsense	probably null
R2306:Unc119b	UTSW	5	115,263,534 (GRCm39)	nonsense	probably null
R3871:Unc119b	UTSW	5	115,268,567 (GRCm39)	missense	probably damaging	1.00
R4970:Unc119b	UTSW	5	115,263,553 (GRCm39)	missense	probably damaging	0.97
R5112:Unc119b	UTSW	5	115,263,553 (GRCm39)	missense	probably damaging	0.97
R5933:Unc119b	UTSW	5	115,265,508 (GRCm39)	intron	probably benign
R5977:Unc119b	UTSW	5	115,268,612 (GRCm39)	missense	probably benign	0.10
R7423:Unc119b	UTSW	5	115,272,743 (GRCm39)	missense	probably damaging	1.00
R8022:Unc119b	UTSW	5	115,265,102 (GRCm39)	missense	probably damaging	1.00
R8897:Unc119b	UTSW	5	115,272,977 (GRCm39)	start gained	probably benign
R9544:Unc119b	UTSW	5	115,272,827 (GRCm39)	missense	probably benign	0.04
R9786:Unc119b	UTSW	5	115,263,521 (GRCm39)	missense	probably damaging	1.00
Z1176:Unc119b	UTSW	5	115,265,221 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGTCAGATCAGCAGGATGG -3'
(R):5'- AAGATTCTCAGGTCAGCACC -3'

Sequencing Primer
(F):5'- GCAGGAACCCGGCTAAG -3'
(R):5'- GCTCTCCATAGTTACGGCG -3'

Posted On

2022-08-09