Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01645:Unc119b'

102605

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Unc119b

Ensembl Gene

ENSMUSG00000046562

Gene Name

unc-119 lipid binding chaperone B

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01645

Quality Score

Status

Chromosome

Chromosomal Location

115260625-115273034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115265371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 154 (V154I)

Ref Sequence

ENSEMBL: ENSMUSP00000055475 (fasta)

Gene Model

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

AlphaFold

Q8C4B4

Predicted Effect

probably benign
Transcript: ENSMUST00000060798
AA Change: V154I

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000055475
Gene: ENSMUSG00000046562
AA Change: V154I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153403

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	T	7: 45,764,477 (GRCm39)	C1156Y	possibly damaging	Het
Armh4	T	C	14: 50,011,011 (GRCm39)	E232G	probably damaging	Het
Atp8b1	G	A	18: 64,679,184 (GRCm39)	H766Y	probably benign	Het
Cacna2d1	C	A	5: 16,217,389 (GRCm39)		probably null	Het
Card11	T	A	5: 140,863,778 (GRCm39)	T987S	probably benign	Het
Dennd2b	T	A	7: 109,126,841 (GRCm39)	K540*	probably null	Het
Dmxl2	A	T	9: 54,286,017 (GRCm39)	Y2723N	possibly damaging	Het
Dnah11	T	A	12: 118,150,733 (GRCm39)	I342F	possibly damaging	Het
Dnajc10	A	G	2: 80,170,871 (GRCm39)	H454R	possibly damaging	Het
Dpy19l3	T	C	7: 35,394,763 (GRCm39)	T592A	probably benign	Het
Eea1	T	A	10: 95,825,451 (GRCm39)	S49T	probably damaging	Het
Esd	T	A	14: 74,987,159 (GRCm39)	N294K	probably benign	Het
Fmo3	A	G	1: 162,791,575 (GRCm39)	V234A	possibly damaging	Het
Folh1	A	G	7: 86,391,435 (GRCm39)	F420L	probably damaging	Het
Gabra1	T	C	11: 42,026,389 (GRCm39)	N301S	probably damaging	Het
Gm5422	A	T	10: 31,126,069 (GRCm39)		noncoding transcript	Het
Gorab	A	T	1: 163,214,000 (GRCm39)	L310Q	possibly damaging	Het
Gsdme	A	G	6: 50,228,316 (GRCm39)	Y51H	probably damaging	Het
Hrob	T	C	11: 102,146,012 (GRCm39)	L96P	probably damaging	Het
Itpr1	T	C	6: 108,450,560 (GRCm39)	I1964T	possibly damaging	Het
Lmbr1	A	G	5: 29,440,053 (GRCm39)	L410P	probably damaging	Het
Lrrc37a	T	C	11: 103,395,090 (GRCm39)	R112G	probably benign	Het
Mrgpra6	T	C	7: 46,835,681 (GRCm39)	T247A	probably benign	Het
Mroh4	A	G	15: 74,483,207 (GRCm39)		probably benign	Het
Mycbpap	T	C	11: 94,394,293 (GRCm39)		probably null	Het
Myoz2	T	A	3: 122,827,881 (GRCm39)	K12N	probably damaging	Het
Odad2	T	C	18: 7,268,491 (GRCm39)	S343G	probably benign	Het
Or1d2	T	C	11: 74,256,359 (GRCm39)	I288T	possibly damaging	Het
P3h1	T	G	4: 119,093,980 (GRCm39)	F212V	probably damaging	Het
Pcnx2	T	C	8: 126,614,656 (GRCm39)	D265G	probably damaging	Het
Pkd1l3	C	T	8: 110,361,934 (GRCm39)	T992I	possibly damaging	Het
Prss58	T	C	6: 40,874,244 (GRCm39)	D144G	probably damaging	Het
Pth2	T	A	7: 44,830,764 (GRCm39)	L29Q	possibly damaging	Het
Rab1b	A	C	19: 5,154,962 (GRCm39)		probably benign	Het
Rasa2	A	T	9: 96,464,834 (GRCm39)	C190*	probably null	Het
Scn9a	T	C	2: 66,317,986 (GRCm39)	K1501E	possibly damaging	Het
Selenoi	A	G	5: 30,462,821 (GRCm39)		probably benign	Het
Slc11a2	T	C	15: 100,286,999 (GRCm39)	N558S	probably benign	Het
Sox10	T	C	15: 79,040,539 (GRCm39)	I173V	probably benign	Het
Sra1	A	C	18: 36,804,526 (GRCm39)	F476C	probably damaging	Het
Tmem119	T	A	5: 113,933,409 (GRCm39)	K131*	probably null	Het
Trim12c	T	A	7: 103,994,261 (GRCm39)	K198*	probably null	Het
Ttn	A	G	2: 76,681,904 (GRCm39)		probably benign	Het
Usp47	T	A	7: 111,654,069 (GRCm39)	S108R	probably damaging	Het
Vmn1r15	T	A	6: 57,235,547 (GRCm39)	C138*	probably null	Het
Vmn1r191	T	C	13: 22,363,614 (GRCm39)	I47V	probably benign	Het
Wnt3	C	T	11: 103,703,204 (GRCm39)	A229V	probably benign	Het

Other mutations in Unc119b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9588: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

Posted On

2014-01-21