Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02942:Unc93b1'

364561

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02942

Quality Score

Status

Chromosome

Chromosomal Location

3935186-3949340 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3948686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 535 (M535K)

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: M535K

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

SMART Domains

Protein: ENSMUSP00000124272
Gene: ENSMUSG00000036908
AA Change: M535K

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	C	15: 91,149,175	D679E	probably damaging	Het
Adh6a	A	T	3: 138,324,881	D88V	probably damaging	Het
Ank3	G	A	10: 69,973,877	V1123I	probably damaging	Het
Apba1	T	C	19: 23,944,971	V801A	possibly damaging	Het
Bcl2a1a	C	T	9: 88,957,042		probably benign	Het
Brd8	A	G	18: 34,610,627	V215A	possibly damaging	Het
Cdk17	G	A	10: 93,238,968	V454I	probably benign	Het
Chd5	G	A	4: 152,385,725	G1876D	probably damaging	Het
Clec4g	T	C	8: 3,718,356	E125G	probably damaging	Het
Col24a1	G	A	3: 145,541,665	G1602D	probably damaging	Het
Depdc7	A	C	2: 104,728,094	L194R	probably damaging	Het
Dgke	T	G	11: 89,055,369	N202H	probably benign	Het
Dkk2	T	A	3: 132,178,037	C233S	probably damaging	Het
Dmpk	A	C	7: 19,092,241	D542A	probably damaging	Het
Epb41l4a	G	A	18: 33,874,201	R246W	probably damaging	Het
Frmpd1	A	T	4: 45,285,493	Q1438L	probably damaging	Het
Gcgr	A	G	11: 120,536,817		probably null	Het
Gm10295	T	C	7: 71,350,502	K110R	unknown	Het
Ifrd1	A	G	12: 40,217,376		probably null	Het
Inpp5f	A	G	7: 128,694,900	T365A	probably benign	Het
Kcnn3	A	G	3: 89,652,076	K551R	probably benign	Het
Lama2	A	T	10: 27,041,220	N2236K	probably damaging	Het
Larp7	A	T	3: 127,544,195	I405N	possibly damaging	Het
Meltf	C	A	16: 31,890,778	Y432*	probably null	Het
Mst1r	C	A	9: 107,913,153	T655K	possibly damaging	Het
Myh1	C	T	11: 67,202,482	P133L	probably damaging	Het
Nrn1	C	A	13: 36,730,106		probably null	Het
Olfr1454	A	T	19: 13,064,188	Q259L	probably benign	Het
Olfr2	A	G	7: 107,001,354	S169P	possibly damaging	Het
Olfr584	A	T	7: 103,086,198	M222L	probably benign	Het
Pfkl	A	T	10: 78,000,133		probably null	Het
Plekhb2	T	C	1: 34,876,992	M204T	probably damaging	Het
Ptp4a2	G	A	4: 129,845,193		probably null	Het
Rtp4	A	G	16: 23,612,954	T79A	probably benign	Het
Senp3	T	C	11: 69,677,989	D410G	probably benign	Het
Slc16a5	T	C	11: 115,469,350	F120L	possibly damaging	Het
Snrpe	T	C	1: 133,608,931	E37G	probably damaging	Het
Sorcs1	T	C	19: 50,475,437	T192A	probably damaging	Het
Spef2	T	A	15: 9,668,874	H742L	possibly damaging	Het
Syt12	T	C	19: 4,447,830	S375G	probably benign	Het
Tas2r117	T	C	6: 132,803,694	L265P	probably benign	Het
Tcp10a	T	A	17: 7,329,919	D158E	probably damaging	Het
Tesk2	A	T	4: 116,771,820	H122L	probably damaging	Het
Vangl1	C	A	3: 102,184,031	R246S	probably damaging	Het
Xpo5	C	T	17: 46,208,133	T166I	probably damaging	Het
Zcchc6	T	G	13: 59,811,521	N378H	probably damaging	Het
Zmiz2	T	C	11: 6,399,500		probably benign	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
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
R5166:Unc93b1	UTSW	19	3944027	missense	probably damaging	1.00
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

Posted On

2015-12-18