Mutagenetix > Incidental Mutation

Incidental Mutation 'R3871:Unc119b'

276559

Institutional Source

Beutler Lab

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 #

R3871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115122550-115134975 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115130508 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 106 (T106M)

Ref Sequence

ENSEMBL: ENSMUSP00000055475 (fasta)

Gene Model

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

AlphaFold

Q8C4B4

Predicted Effect

probably damaging
Transcript: ENSMUST00000060798
AA Change: T106M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055475
Gene: ENSMUSG00000046562
AA Change: T106M

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

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	T	A	19: 20,624,753 (GRCm38)	Y225*	probably null	Het
Bard1	T	C	1: 71,074,940 (GRCm38)	K294R	probably benign	Het
Bcap29	A	T	12: 31,617,081 (GRCm38)	S194T	probably benign	Het
Ccdc40	G	A	11: 119,264,281 (GRCm38)	V1116M	probably damaging	Het
Cntnap5a	A	G	1: 116,060,249 (GRCm38)	E170G	probably damaging	Het
Crygs	C	T	16: 22,805,551 (GRCm38)	G102D	possibly damaging	Het
Cyp2c54	T	C	19: 40,072,423 (GRCm38)	D92G	probably benign	Het
Dpp6	T	C	5: 27,469,465 (GRCm38)	F197L	probably benign	Het
Filip1l	G	T	16: 57,513,286 (GRCm38)	K147N	probably damaging	Het
Hrnr	T	A	3: 93,331,874 (GRCm38)	S3140T	unknown	Het
Igfn1	G	T	1: 135,968,836 (GRCm38)	H1331N	probably benign	Het
Kalrn	C	T	16: 34,203,856 (GRCm38)		probably null	Het
Kmt2d	TTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGC	15: 98,851,021 (GRCm38)		probably benign	Het
Mfng	A	G	15: 78,756,621 (GRCm38)	L308P	probably damaging	Het
Nt5e	C	A	9: 88,364,693 (GRCm38)	N327K	probably benign	Het
Olfr1025-ps1	T	G	2: 85,918,582 (GRCm38)		probably null	Het
Pgbd1	C	T	13: 21,434,370 (GRCm38)	R39H	possibly damaging	Het
Phactr4	T	C	4: 132,377,249 (GRCm38)	T256A	probably benign	Het
Rab24	T	C	13: 55,321,179 (GRCm38)	D63G	probably damaging	Het
Rubcnl	C	T	14: 75,040,916 (GRCm38)	P380L	probably benign	Het
Satb2	A	G	1: 56,891,220 (GRCm38)	S215P	probably damaging	Het
Serpina3b	A	T	12: 104,138,788 (GRCm38)	I408F	probably damaging	Het
Setx	A	G	2: 29,145,741 (GRCm38)	D746G	probably damaging	Het
Sf3a2	A	C	10: 80,804,693 (GRCm38)		probably benign	Het
Snx33	T	C	9: 56,926,740 (GRCm38)	N15S	probably benign	Het
Snx9	C	T	17: 5,891,781 (GRCm38)	P61L	probably benign	Het
Sult2a6	T	C	7: 14,254,776 (GRCm38)	K20E	probably benign	Het
Tas2r122	A	G	6: 132,711,580 (GRCm38)	S117P	probably benign	Het
Tmem26	G	A	10: 68,778,732 (GRCm38)	E326K	probably benign	Het
Tnpo2	T	A	8: 85,054,751 (GRCm38)	C789S	probably null	Het
Togaram1	A	C	12: 65,002,645 (GRCm38)	E1285D	probably benign	Het
Ubxn7	T	A	16: 32,381,430 (GRCm38)	S335T	possibly damaging	Het
Usp14	A	G	18: 10,002,370 (GRCm38)	S314P	possibly damaging	Het
Usp32	T	C	11: 85,081,156 (GRCm38)	D129G	probably null	Het

Other mutations in Unc119b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01645:Unc119b	APN	5	115,127,312 (GRCm38)	missense	probably benign	0.05
IGL02207:Unc119b	APN	5	115,134,754 (GRCm38)	missense	probably benign
R1695:Unc119b	UTSW	5	115,134,826 (GRCm38)	nonsense	probably null
R2306:Unc119b	UTSW	5	115,125,475 (GRCm38)	nonsense	probably null
R4970:Unc119b	UTSW	5	115,125,494 (GRCm38)	missense	probably damaging	0.97
R5112:Unc119b	UTSW	5	115,125,494 (GRCm38)	missense	probably damaging	0.97
R5933:Unc119b	UTSW	5	115,127,449 (GRCm38)	intron	probably benign
R5977:Unc119b	UTSW	5	115,130,553 (GRCm38)	missense	probably benign	0.10
R7423:Unc119b	UTSW	5	115,134,684 (GRCm38)	missense	probably damaging	1.00
R8022:Unc119b	UTSW	5	115,127,043 (GRCm38)	missense	probably damaging	1.00
R8897:Unc119b	UTSW	5	115,134,918 (GRCm38)	start gained	probably benign
R9544:Unc119b	UTSW	5	115,134,768 (GRCm38)	missense	probably benign	0.04
R9588:Unc119b	UTSW	5	115,134,768 (GRCm38)	missense	probably benign	0.04
R9786:Unc119b	UTSW	5	115,125,462 (GRCm38)	missense	probably damaging	1.00
Z1176:Unc119b	UTSW	5	115,127,162 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATGGTGAAAGGCGCATGTC -3'
(R):5'- TTGGGGAACATTTTCAGTGAATTGC -3'

Sequencing Primer
(F):5'- TGGTACATTCTGGCACACACAGG -3'
(R):5'- TTTCAGTGAATTGCATAGAAGACC -3'

Posted On

2015-04-06