Mutagenetix > Incidental Mutation

Incidental Mutation 'R5977:Unc119b'

481179

Institutional Source

Beutler Lab

Gene Symbol

Unc119b

Ensembl Gene

ENSMUSG00000046562

Gene Name

unc-119 lipid binding chaperone B

Synonyms

MMRRC Submission

044159-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5977 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115260625-115273034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115268612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 91 (V91A)

Ref Sequence

ENSEMBL: ENSMUSP00000055475 (fasta)

Gene Model

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

AlphaFold

Q8C4B4

Predicted Effect

probably benign
Transcript: ENSMUST00000060798
AA Change: V91A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000055475
Gene: ENSMUSG00000046562
AA Change: V91A

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,451,106 (GRCm39)	R446S	probably damaging	Het
2900092C05Rik	A	T	7: 12,288,664 (GRCm39)	H159L	probably benign	Het
4933405O20Rik	G	A	7: 50,249,838 (GRCm39)	V291I	probably damaging	Het
A2ml1	A	G	6: 128,558,085 (GRCm39)	Y24H	probably damaging	Het
Adgrv1	C	T	13: 81,583,678 (GRCm39)		probably null	Het
Ankrd52	C	T	10: 128,218,566 (GRCm39)	H351Y	probably damaging	Het
Anks6	C	A	4: 47,035,748 (GRCm39)	A588S	probably benign	Het
Arl15	T	G	13: 114,070,645 (GRCm39)	V80G	probably damaging	Het
Atp8a1	A	G	5: 67,904,628 (GRCm39)	I532T	possibly damaging	Het
Birc6	T	C	17: 74,910,031 (GRCm39)	C1475R	probably damaging	Het
Carmil1	C	T	13: 24,253,719 (GRCm39)	R394Q	probably damaging	Het
Cbfa2t2	T	C	2: 154,359,697 (GRCm39)	I254T	probably damaging	Het
Cemip2	A	G	19: 21,803,447 (GRCm39)	T827A	probably benign	Het
Col6a3	A	G	1: 90,749,571 (GRCm39)	V421A	possibly damaging	Het
Cped1	T	C	6: 22,254,607 (GRCm39)	V1000A	probably damaging	Het
Cr1l	A	T	1: 194,797,076 (GRCm39)	Y282*	probably null	Het
Cryl1	G	T	14: 57,620,236 (GRCm39)	T43K	probably benign	Het
Csmd2	C	T	4: 127,952,827 (GRCm39)	P92L	probably damaging	Het
Ddx60	G	A	8: 62,474,444 (GRCm39)		probably null	Het
Dhrs7b	C	T	11: 60,743,328 (GRCm39)	R187*	probably null	Het
Dmtf1	T	C	5: 9,190,451 (GRCm39)	T88A	probably damaging	Het
Dnah2	T	C	11: 69,411,707 (GRCm39)	E305G	possibly damaging	Het
Dscaml1	A	C	9: 45,632,596 (GRCm39)	N1154T	probably benign	Het
Efhc1	A	G	1: 21,030,442 (GRCm39)	Y125C	probably damaging	Het
Egflam	T	A	15: 7,347,726 (GRCm39)	Y68F	possibly damaging	Het
Gcm2	A	G	13: 41,256,603 (GRCm39)	V382A	probably damaging	Het
Gm18358	A	G	7: 84,739,756 (GRCm39)		noncoding transcript	Het
Gm3443	T	G	19: 21,534,960 (GRCm39)	I75S	probably benign	Het
Gpr182	C	A	10: 127,586,748 (GRCm39)	V68F	possibly damaging	Het
Herc1	T	A	9: 66,340,604 (GRCm39)	M1651K	possibly damaging	Het
Hey1	A	T	3: 8,731,418 (GRCm39)		probably null	Het
Ighv1-43	A	C	12: 114,909,829 (GRCm39)	V31G	probably benign	Het
Il17rc	T	C	6: 113,459,692 (GRCm39)	V450A	probably damaging	Het
Kbtbd4	T	G	2: 90,736,487 (GRCm39)	V166G	probably benign	Het
Marveld2	T	C	13: 100,748,197 (GRCm39)	N294S	possibly damaging	Het
Mtdh	A	G	15: 34,099,720 (GRCm39)	K61E	probably damaging	Het
Muc5ac	T	C	7: 141,350,104 (GRCm39)	S616P	possibly damaging	Het
Myh15	T	C	16: 48,973,866 (GRCm39)	L1292P	probably damaging	Het
Nek8	C	T	11: 78,058,651 (GRCm39)	V550M	probably benign	Het
Nup155	T	A	15: 8,159,721 (GRCm39)		probably null	Het
Or2y17	G	A	11: 49,231,592 (GRCm39)	V78M	probably damaging	Het
Or7c70	A	T	10: 78,683,572 (GRCm39)	M59K	possibly damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Papln	G	A	12: 83,831,143 (GRCm39)	W1099*	probably null	Het
Pcdhb17	A	G	18: 37,618,720 (GRCm39)	Y170C	probably damaging	Het
Pramel12	T	C	4: 143,144,229 (GRCm39)	Y192H	probably benign	Het
Prss39	T	G	1: 34,541,783 (GRCm39)	C287G	probably damaging	Het
Pyroxd2	A	G	19: 42,723,911 (GRCm39)	V338A	probably damaging	Het
Rab19	T	A	6: 39,360,860 (GRCm39)	F3I	probably benign	Het
Relt	A	G	7: 100,512,355 (GRCm39)		probably benign	Het
Sbf2	T	A	7: 109,977,193 (GRCm39)	H647L	probably benign	Het
Scube1	C	T	15: 83,513,689 (GRCm39)	C327Y	probably damaging	Het
Sec14l4	A	C	11: 3,990,055 (GRCm39)	Q118P	possibly damaging	Het
Shisa9	C	G	16: 12,085,292 (GRCm39)	D300E	probably benign	Het
Smg1	A	G	7: 117,740,580 (GRCm39)		probably benign	Het
Sncaip	A	G	18: 53,002,393 (GRCm39)	T305A	probably benign	Het
Sorcs3	T	C	19: 48,784,889 (GRCm39)	V1104A	probably damaging	Het
Ugt1a6b	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Uvssa	A	G	5: 33,547,204 (GRCm39)	K257E	probably damaging	Het
Vmn1r199	A	C	13: 22,567,416 (GRCm39)	M237L	probably benign	Het
Vmn1r69	G	A	7: 10,314,417 (GRCm39)	R26W	probably damaging	Het
Vmn2r54	A	G	7: 12,366,143 (GRCm39)	F264L	probably damaging	Het
Vmn2r7	C	T	3: 64,623,464 (GRCm39)	W285*	probably null	Het
Vmn2r78	T	A	7: 86,569,541 (GRCm39)	S145T	possibly damaging	Het
Vmn2r78	T	A	7: 86,604,115 (GRCm39)	N764K	probably benign	Het
Wdr5b	T	G	16: 35,862,374 (GRCm39)	H164Q	probably damaging	Het
Zcchc7	G	A	4: 44,894,982 (GRCm39)	V236I	possibly damaging	Het
Zfp729b	G	A	13: 67,739,740 (GRCm39)	R842C	probably benign	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
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'- GGCATGCTGACAGGAAGTAATC -3'
(R):5'- GCTTACATGCAGGCAAAGCAC -3'

Sequencing Primer
(F):5'- CAGGAAGTAATCATGAAAGTGGCAC -3'
(R):5'- GGCAAAGCACCCATACATATG -3'

Posted On

2017-06-26