Mutagenetix > Incidental Mutations

Incidental Mutation 'R5166:Unc93b1'

397334

Institutional Source

Beutler Lab

Gene Symbol

Unc93b1

Ensembl Gene

ENSMUSG00000036908

Gene Name

unc-93 homolog B1 (C. elegans)

Synonyms

unc-93 homolog B, unc-93 related protein

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5166 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3935186-3949340 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3944027 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 386 (Y386C)

Ref Sequence

ENSEMBL: ENSMUSP00000124272 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000162708] [ENSMUST00000165711]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161415

Predicted Effect

probably damaging
Transcript: ENSMUST00000162708
AA Change: Y386C

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

SMART Domains

Protein: ENSMUSP00000124272
Gene: ENSMUSG00000036908
AA Change: Y386C

Domain	Start	End	E-Value	Type
low complexity region	66	78	N/A	INTRINSIC
transmembrane domain	81	103	N/A	INTRINSIC
Pfam:UNC-93	135	214	1.6e-8	PFAM
transmembrane domain	238	260	N/A	INTRINSIC
transmembrane domain	306	328	N/A	INTRINSIC
transmembrane domain	364	386	N/A	INTRINSIC
transmembrane domain	396	418	N/A	INTRINSIC
transmembrane domain	423	445	N/A	INTRINSIC
transmembrane domain	460	482	N/A	INTRINSIC
transmembrane domain	494	513	N/A	INTRINSIC
transmembrane domain	518	535	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165711

SMART Domains

Protein: ENSMUSP00000128751
Gene: ENSMUSG00000036908

Domain	Start	End	E-Value	Type
low complexity region	66	78	N/A	INTRINSIC
transmembrane domain	81	103	N/A	INTRINSIC
Pfam:UNC-93	135	214	5.1e-9	PFAM
transmembrane domain	243	265	N/A	INTRINSIC
transmembrane domain	305	327	N/A	INTRINSIC
transmembrane domain	367	389	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice with a transmembrane domain point mutation have no overt phenotype but fail to mount a normal cytokine response and exhibit increased susceptibility to mouse cytomegalovirus, Lysteria monocytogenes and Staphlococcus aureus. Antigen presentation by MHC class I and II is impaired. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,600,020	T435A	probably benign	Het
Adcy3	T	A	12: 4,134,438	I38N	probably damaging	Het
Aff1	A	G	5: 103,754,657		probably benign	Het
Asxl1	A	G	2: 153,401,121	E1197G	probably damaging	Het
Brinp3	T	A	1: 146,901,367	N517K	probably damaging	Het
Carmil1	C	T	13: 24,154,983		probably null	Het
Ccdc185	G	A	1: 182,748,999	Q42*	probably null	Het
Cdc23	C	A	18: 34,651,689	V7L	unknown	Het
Cdh10	A	G	15: 19,013,360	E682G	probably damaging	Het
Col6a3	C	A	1: 90,810,608	R456L	probably damaging	Het
Egf	C	T	3: 129,735,840	R307H	probably benign	Het
Flt4	T	C	11: 49,633,257		probably null	Het
Fstl5	A	C	3: 76,628,960	K26Q	possibly damaging	Het
Gk5	G	T	9: 96,174,768	A413S	probably damaging	Het
Glcci1	T	A	6: 8,537,854	S157R	probably benign	Het
Gzmc	G	A	14: 56,233,976	A36V	probably damaging	Het
Hexb	T	C	13: 97,182,004	N283S	probably benign	Het
Hydin	A	G	8: 110,523,142	E2239G	possibly damaging	Het
Igkv10-95	A	T	6: 68,680,560	Y20F	probably benign	Het
Il17re	A	G	6: 113,462,962	T181A	probably benign	Het
Kcnh6	G	A	11: 106,020,319	A514T	possibly damaging	Het
Kcnk10	G	A	12: 98,434,995	R460W	probably damaging	Het
Krtap5-2	A	T	7: 142,174,984	S320T	unknown	Het
Larp1b	G	T	3: 40,964,052	E24*	probably null	Het
Mettl22	A	G	16: 8,478,251	T135A	probably benign	Het
Mlh1	A	G	9: 111,241,513	V378A	probably benign	Het
Mmrn1	A	T	6: 60,976,490	H585L	probably benign	Het
Myh14	A	G	7: 44,628,855	F1024L	probably damaging	Het
Nbea	A	T	3: 56,019,453	H776Q	probably damaging	Het
Nod2	A	G	8: 88,664,247	D372G	possibly damaging	Het
Nptn	C	T	9: 58,618,980	R137*	probably null	Het
Olfr825	T	C	10: 130,162,561	Y255C	possibly damaging	Het
Pm20d2	C	T	4: 33,181,803	V267I	probably benign	Het
Rassf10	A	G	7: 112,954,420	D76G	probably benign	Het
Rbbp5	A	G	1: 132,490,565	T41A	possibly damaging	Het
Rttn	T	C	18: 89,013,094	V643A	possibly damaging	Het
Sbno2	C	A	10: 80,066,928	E421*	probably null	Het
Slc17a3	T	C	13: 23,842,542		probably null	Het
Slc1a6	T	A	10: 78,796,269		probably null	Het
Slco2b1	A	G	7: 99,689,013	S106P	possibly damaging	Het
Spef1	T	C	2: 131,174,591	N28S	probably damaging	Het
Srebf2	C	A	15: 82,185,402	T675N	probably damaging	Het
Srp68	C	A	11: 116,265,474	E147D	probably damaging	Het
Tbcd	T	A	11: 121,609,390	L1114H	possibly damaging	Het
Tex15	T	C	8: 33,576,392	V1950A	probably benign	Het
Tnfsf9	T	A	17: 57,106,263	F148Y	possibly damaging	Het
Traf6	A	G	2: 101,690,057	D150G	probably benign	Het
Ttn	A	G	2: 76,863,373	Y262H	possibly damaging	Het
Vmn1r226	A	T	17: 20,687,863	E119V	probably benign	Het
Wrn	A	T	8: 33,352,072		probably null	Het
Zfp398	A	G	6: 47,865,904	I165V	probably benign	Het
Zfp850	A	T	7: 27,990,356	C142*	probably null	Het

Other mutations in Unc93b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Unc93b1	APN	19	3935356	splice site	probably null
IGL02631:Unc93b1	APN	19	3942026	splice site	probably benign
IGL02942:Unc93b1	APN	19	3948686	missense	probably damaging	1.00
IGL03149:Unc93b1	APN	19	3944041	missense	probably benign
3d	UTSW	19	3944168	missense	possibly damaging	0.96
novelty	UTSW	19	3943632	missense	probably damaging	1.00
speciality	UTSW	19	3941910	missense	possibly damaging	0.51
R0680:Unc93b1	UTSW	19	3947093	missense	probably benign
R1237:Unc93b1	UTSW	19	3935228	missense	possibly damaging	0.72
R1557:Unc93b1	UTSW	19	3942403	missense	probably benign	0.13
R1992:Unc93b1	UTSW	19	3944062	missense	probably benign	0.00
R2435:Unc93b1	UTSW	19	3936373	missense	possibly damaging	0.89
R4016:Unc93b1	UTSW	19	3943572	missense	probably damaging	1.00
R4080:Unc93b1	UTSW	19	3941959	missense	probably damaging	0.99
R4479:Unc93b1	UTSW	19	3935236	missense	probably benign	0.16
R4829:Unc93b1	UTSW	19	3944293	missense	probably damaging	1.00
R4947:Unc93b1	UTSW	19	3935871	missense	probably benign	0.05
R4964:Unc93b1	UTSW	19	3942023	splice site	probably null
R4966:Unc93b1	UTSW	19	3942023	splice site	probably null
R5056:Unc93b1	UTSW	19	3942762	missense	possibly damaging	0.45
R5441:Unc93b1	UTSW	19	3943703	missense	probably benign	0.01
R5892:Unc93b1	UTSW	19	3943632	missense	probably damaging	1.00
R6382:Unc93b1	UTSW	19	3935297	missense	probably benign	0.19
R6556:Unc93b1	UTSW	19	3944105	missense	probably benign
R6962:Unc93b1	UTSW	19	3936303	missense	possibly damaging	0.57
R7143:Unc93b1	UTSW	19	3935204	missense	unknown
R7748:Unc93b1	UTSW	19	3935250	missense	unknown
R7866:Unc93b1	UTSW	19	3935243	missense	not run
R8198:Unc93b1	UTSW	19	3941910	missense	possibly damaging	0.51
R9212:Unc93b1	UTSW	19	3943557	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCATTGTCTTTTACCATGAACAAG -3'
(R):5'- ATCCAACTGTGCTGGAGGAC -3'

Sequencing Primer
(F):5'- TTACCATGAACAAGTCATTTTTCAAC -3'
(R):5'- TGTGCTGGAGGACCCGAG -3'

Posted On

2016-07-06