Mutagenetix > Incidental Mutation

Incidental Mutation 'R2306:Unc119b'

244587

Institutional Source

Beutler Lab

Gene Symbol

Unc119b

Ensembl Gene

ENSMUSG00000046562

Gene Name

unc-119 lipid binding chaperone B

Synonyms

MMRRC Submission

040305-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115260625-115273034 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 115263534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 223 (Y223*)

Ref Sequence

ENSEMBL: ENSMUSP00000055475 (fasta)

Gene Model

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

AlphaFold

Q8C4B4

Predicted Effect

probably null
Transcript: ENSMUST00000060798
AA Change: Y223*

SMART Domains

Protein: ENSMUSP00000055475
Gene: ENSMUSG00000046562
AA Change: Y223*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.2%
20x: 94.4%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	G	A	17: 43,024,010 (GRCm39)	H154Y	possibly damaging	Het
Arhgef7	T	A	8: 11,862,680 (GRCm39)	Y501*	probably null	Het
Atmin	T	C	8: 117,684,389 (GRCm39)	F683S	probably benign	Het
Bcat1	A	G	6: 144,953,379 (GRCm39)	V403A	probably damaging	Het
C4b	T	G	17: 34,947,492 (GRCm39)	M1729L	probably benign	Het
Cdh23	A	G	10: 60,159,224 (GRCm39)	S2185P	probably damaging	Het
Crispld2	T	G	8: 120,752,810 (GRCm39)	V286G	probably damaging	Het
Ctsw	T	C	19: 5,517,010 (GRCm39)		probably null	Het
Dnai1	T	C	4: 41,625,239 (GRCm39)	V401A	probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Ifitm2	T	A	7: 140,535,702 (GRCm39)	T43S	probably damaging	Het
Mark1	A	T	1: 184,633,058 (GRCm39)		probably benign	Het
Mme	A	G	3: 63,207,673 (GRCm39)	I40V	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nfatc2	A	C	2: 168,432,023 (GRCm39)	F30C	probably damaging	Het
Npr2	T	A	4: 43,633,609 (GRCm39)	V251D	probably damaging	Het
Pax8	T	A	2: 24,333,057 (GRCm39)	Y96F	probably damaging	Het
Ppp1r13b	T	C	12: 111,811,327 (GRCm39)	E187G	probably damaging	Het
Rbp3	A	T	14: 33,684,520 (GRCm39)	D1183V	probably damaging	Het
Reln	T	G	5: 22,101,784 (GRCm39)	D3382A	probably damaging	Het
Rfc3	A	G	5: 151,567,243 (GRCm39)	L271P	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sdk1	C	T	5: 141,948,455 (GRCm39)	A600V	probably benign	Het
Sfr1	T	C	19: 47,723,291 (GRCm39)	I265T	probably damaging	Het
Syt13	G	A	2: 92,771,312 (GRCm39)	R133H	probably benign	Het
Tmem231	A	T	8: 112,645,503 (GRCm39)	V132D	probably damaging	Het
Tmem247	C	A	17: 87,225,869 (GRCm39)	A103E	probably benign	Het
Vmn1r196	T	A	13: 22,477,473 (GRCm39)	F37L	probably benign	Het
Vps13c	T	A	9: 67,895,275 (GRCm39)	Y3627N	probably damaging	Het
Zfp292	C	A	4: 34,809,468 (GRCm39)	S1192I	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
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

Predicted Primers

PCR Primer
(F):5'- AAGAGAAACTGCTGGCTGGC -3'
(R):5'- TAGAACTGGACTGGACGTCAC -3'

Sequencing Primer
(F):5'- TGCAGCTTCCTGGACCAG -3'
(R):5'- CAGTCCATCTGGCGCCCTC -3'

Posted On

2014-10-30