Mutagenetix > Incidental Mutation

Incidental Mutation 'R7866:Unc93b1'

607812

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

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3935186-3949340 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3935243 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 17 (D17V)

Ref Sequence

ENSEMBL: ENSMUSP00000124272 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

not run
Transcript: ENSMUST00000162708
AA Change: D17V

SMART Domains

Protein: ENSMUSP00000124272
Gene: ENSMUSG00000036908
AA Change: D17V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	C	T	17: 31,098,295	R194*	probably null	Het
Actl6a	A	G	3: 32,712,113	T39A	possibly damaging	Het
Adamts6	T	A	13: 104,413,749	C624*	probably null	Het
Adgrl1	T	C	8: 83,937,935		probably null	Het
Ap3m2	A	G	8: 22,799,658	V143A	probably benign	Het
Ap5m1	T	C	14: 49,073,761	V96A	probably damaging	Het
Aqp5	T	A	15: 99,591,543	V91E	probably damaging	Het
Atp6v0b	A	T	4: 117,885,153	I181N	probably damaging	Het
Ccp110	T	A	7: 118,723,018	M632K	probably benign	Het
Cd44	A	T	2: 102,842,259		probably null	Het
Cidea	G	A	18: 67,358,784	R38Q	probably damaging	Het
Cnn3	T	C	3: 121,451,393	I86T	probably benign	Het
Col14a1	C	A	15: 55,388,620	D557E	unknown	Het
Col6a6	T	C	9: 105,689,561	Y2245C	probably damaging	Het
Dhrs4	A	T	14: 55,487,635	N196Y	probably damaging	Het
Dnah8	T	C	17: 30,874,927	V4665A	possibly damaging	Het
Dpep2	T	C	8: 105,989,481	T267A		Het
Dtx3l	T	A	16: 35,938,750	Q43L	probably benign	Het
Ednrb	A	G	14: 103,843,302	S59P	probably benign	Het
Eml4	A	G	17: 83,450,697	T435A	probably benign	Het
Fam135b	A	T	15: 71,462,076	F1090I	probably benign	Het
Filip1	A	G	9: 79,818,943	V798A	probably benign	Het
Fnip1	T	G	11: 54,465,402		probably benign	Het
Gabrb2	C	T	11: 42,487,223	Q89*	probably null	Het
Gm960	T	A	19: 4,698,486	R61S	unknown	Het
Gtf2ird1	A	T	5: 134,363,209	V882E	probably benign	Het
Gucy1a2	T	A	9: 3,532,804	M1K	probably null	Het
Igkv10-96	T	A	6: 68,632,041	D90V	possibly damaging	Het
Igkv4-54	G	A	6: 69,631,756	R60C	probably benign	Het
Igkv7-33	G	T	6: 70,058,863	A45D	probably damaging	Het
Klk1b22	A	T	7: 44,112,744	I15F	possibly damaging	Het
Lamp3	T	A	16: 19,699,740	D249V	probably benign	Het
Lrrfip2	T	C	9: 111,193,081	V125A	possibly damaging	Het
Mprip	G	A	11: 59,752,930	R638H	possibly damaging	Het
Muc5ac	A	G	7: 141,795,852	M501V	probably benign	Het
Myo5a	C	T	9: 75,203,752	P1509S	probably damaging	Het
Ngdn	A	G	14: 55,021,097	Y63C	probably damaging	Het
Oit3	A	G	10: 59,424,030	V517A	probably benign	Het
Olfr935	A	T	9: 38,994,731	S235T	not run	Het
Pcdhb18	T	A	18: 37,490,459	F281I	probably damaging	Het
Pkd1	C	A	17: 24,590,907	Q3520K	probably benign	Het
Plxnb1	T	A	9: 109,100,457	I127N	probably damaging	Het
Ppfia2	A	T	10: 106,819,529	N319I	probably damaging	Het
Pxn	T	C	5: 115,548,606	S386P	possibly damaging	Het
Ralgps2	C	T	1: 156,887,168	V104I	probably benign	Het
Rp1	C	T	1: 4,347,701	V1063I	probably benign	Het
Slc10a5	A	T	3: 10,334,472	F376Y	probably damaging	Het
Snd1	T	A	6: 28,527,725	I277N	probably damaging	Het
Spc25	A	G	2: 69,206,062		probably null	Het
Tex29	A	G	8: 11,844,055	N6D	unknown	Het
Ttc30b	A	G	2: 75,936,619	S597P	possibly damaging	Het
Ttc6	G	A	12: 57,674,649	A975T	probably damaging	Het
Uba6	T	C	5: 86,172,701	E13G	probably damaging	Het
Ugcg	T	G	4: 59,211,927	C98G	possibly damaging	Het
Ugt2b36	T	A	5: 87,092,331	D65V	probably damaging	Het
Usf1	G	T	1: 171,417,894	W291C	unknown	Het
Vps29	T	C	5: 122,362,117	W97R	possibly damaging	Het
Zbtb6	T	C	2: 37,429,565	E117G	probably damaging	Het
Zfp735	A	C	11: 73,710,803	D191A	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
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
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
R8198:Unc93b1	UTSW	19	3941910	missense	possibly damaging	0.51
R9212:Unc93b1	UTSW	19	3943557	missense	probably damaging	1.00
R9503:Unc93b1	UTSW	19	3936373	missense	possibly damaging	0.89

Predicted Primers

Posted On

2019-12-20