Mutagenetix > Incidental Mutation

Incidental Mutation 'R7866:Unc93b1'

607812

Institutional Source

Beutler Lab

Gene Symbol

Unc93b1

Ensembl Gene

ENSMUSG00000036908

Gene Name

unc-93 homolog B1, TLR signaling regulator

Synonyms

MMRRC Submission

045918-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3985222-3999340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3985243 bp (GRCm39)

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: 31,317,269 (GRCm39)	R194*	probably null	Het
Actl6a	A	G	3: 32,766,262 (GRCm39)	T39A	possibly damaging	Het
Adamts6	T	A	13: 104,550,257 (GRCm39)	C624*	probably null	Het
Adgrl1	T	C	8: 84,664,564 (GRCm39)		probably null	Het
Ap3m2	A	G	8: 23,289,674 (GRCm39)	V143A	probably benign	Het
Ap5m1	T	C	14: 49,311,218 (GRCm39)	V96A	probably damaging	Het
Aqp5	T	A	15: 99,489,424 (GRCm39)	V91E	probably damaging	Het
Atp6v0b	A	T	4: 117,742,350 (GRCm39)	I181N	probably damaging	Het
Ccp110	T	A	7: 118,322,241 (GRCm39)	M632K	probably benign	Het
Cd44	A	T	2: 102,672,604 (GRCm39)		probably null	Het
Cidea	G	A	18: 67,491,854 (GRCm39)	R38Q	probably damaging	Het
Cnn3	T	C	3: 121,245,042 (GRCm39)	I86T	probably benign	Het
Col14a1	C	A	15: 55,252,016 (GRCm39)	D557E	unknown	Het
Col6a6	T	C	9: 105,566,760 (GRCm39)	Y2245C	probably damaging	Het
Dhrs4	A	T	14: 55,725,092 (GRCm39)	N196Y	probably damaging	Het
Dnah8	T	C	17: 31,093,901 (GRCm39)	V4665A	possibly damaging	Het
Dpep2	T	C	8: 106,716,113 (GRCm39)	T267A		Het
Dtx3l	T	A	16: 35,759,120 (GRCm39)	Q43L	probably benign	Het
Ednrb	A	G	14: 104,080,738 (GRCm39)	S59P	probably benign	Het
Eml4	A	G	17: 83,758,126 (GRCm39)	T435A	probably benign	Het
Fam135b	A	T	15: 71,333,925 (GRCm39)	F1090I	probably benign	Het
Filip1	A	G	9: 79,726,225 (GRCm39)	V798A	probably benign	Het
Fnip1	T	G	11: 54,356,228 (GRCm39)		probably benign	Het
Gabrb2	C	T	11: 42,378,050 (GRCm39)	Q89*	probably null	Het
Gtf2ird1	A	T	5: 134,392,063 (GRCm39)	V882E	probably benign	Het
Gucy1a2	T	A	9: 3,532,804 (GRCm39)	M1K	probably null	Het
Ift70b	A	G	2: 75,766,963 (GRCm39)	S597P	possibly damaging	Het
Igkv10-96	T	A	6: 68,609,025 (GRCm39)	D90V	possibly damaging	Het
Igkv4-54	G	A	6: 69,608,740 (GRCm39)	R60C	probably benign	Het
Igkv7-33	G	T	6: 70,035,847 (GRCm39)	A45D	probably damaging	Het
Klk1b22	A	T	7: 43,762,168 (GRCm39)	I15F	possibly damaging	Het
Lamp3	T	A	16: 19,518,490 (GRCm39)	D249V	probably benign	Het
Lrrfip2	T	C	9: 111,022,149 (GRCm39)	V125A	possibly damaging	Het
Mprip	G	A	11: 59,643,756 (GRCm39)	R638H	possibly damaging	Het
Muc5ac	A	G	7: 141,349,589 (GRCm39)	M501V	probably benign	Het
Myo5a	C	T	9: 75,111,034 (GRCm39)	P1509S	probably damaging	Het
Ngdn	A	G	14: 55,258,554 (GRCm39)	Y63C	probably damaging	Het
Oit3	A	G	10: 59,259,852 (GRCm39)	V517A	probably benign	Het
Or8g21	A	T	9: 38,906,027 (GRCm39)	S235T	not run	Het
Pcdhb18	T	A	18: 37,623,512 (GRCm39)	F281I	probably damaging	Het
Pkd1	C	A	17: 24,809,881 (GRCm39)	Q3520K	probably benign	Het
Plxnb1	T	A	9: 108,929,525 (GRCm39)	I127N	probably damaging	Het
Ppfia2	A	T	10: 106,655,390 (GRCm39)	N319I	probably damaging	Het
Pxn	T	C	5: 115,686,665 (GRCm39)	S386P	possibly damaging	Het
Ralgps2	C	T	1: 156,714,738 (GRCm39)	V104I	probably benign	Het
Rp1	C	T	1: 4,417,924 (GRCm39)	V1063I	probably benign	Het
Slc10a5	A	T	3: 10,399,532 (GRCm39)	F376Y	probably damaging	Het
Snd1	T	A	6: 28,527,724 (GRCm39)	I277N	probably damaging	Het
Spc25	A	G	2: 69,036,406 (GRCm39)		probably null	Het
Tex29	A	G	8: 11,894,055 (GRCm39)	N6D	unknown	Het
Top6bl	T	A	19: 4,748,514 (GRCm39)	R61S	unknown	Het
Ttc6	G	A	12: 57,721,435 (GRCm39)	A975T	probably damaging	Het
Uba6	T	C	5: 86,320,560 (GRCm39)	E13G	probably damaging	Het
Ugcg	T	G	4: 59,211,927 (GRCm39)	C98G	possibly damaging	Het
Ugt2b36	T	A	5: 87,240,190 (GRCm39)	D65V	probably damaging	Het
Usf1	G	T	1: 171,245,462 (GRCm39)	W291C	unknown	Het
Vps29	T	C	5: 122,500,180 (GRCm39)	W97R	possibly damaging	Het
Zbtb6	T	C	2: 37,319,577 (GRCm39)	E117G	probably damaging	Het
Zfp735	A	C	11: 73,601,629 (GRCm39)	D191A	probably benign	Het

Other mutations in Unc93b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Unc93b1	APN	19	3,985,356 (GRCm39)	splice site	probably null
IGL02631:Unc93b1	APN	19	3,992,026 (GRCm39)	splice site	probably benign
IGL02942:Unc93b1	APN	19	3,998,686 (GRCm39)	missense	probably damaging	1.00
IGL03149:Unc93b1	APN	19	3,994,041 (GRCm39)	missense	probably benign
3d	UTSW	19	3,994,168 (GRCm39)	missense	possibly damaging	0.96
novelty	UTSW	19	3,993,632 (GRCm39)	missense	probably damaging	1.00
speciality	UTSW	19	3,991,910 (GRCm39)	missense	possibly damaging	0.51
R0680:Unc93b1	UTSW	19	3,997,093 (GRCm39)	missense	probably benign
R1237:Unc93b1	UTSW	19	3,985,228 (GRCm39)	missense	possibly damaging	0.72
R1557:Unc93b1	UTSW	19	3,992,403 (GRCm39)	missense	probably benign	0.13
R1992:Unc93b1	UTSW	19	3,994,062 (GRCm39)	missense	probably benign	0.00
R2435:Unc93b1	UTSW	19	3,986,373 (GRCm39)	missense	possibly damaging	0.89
R4016:Unc93b1	UTSW	19	3,993,572 (GRCm39)	missense	probably damaging	1.00
R4080:Unc93b1	UTSW	19	3,991,959 (GRCm39)	missense	probably damaging	0.99
R4479:Unc93b1	UTSW	19	3,985,236 (GRCm39)	missense	probably benign	0.16
R4829:Unc93b1	UTSW	19	3,994,293 (GRCm39)	missense	probably damaging	1.00
R4947:Unc93b1	UTSW	19	3,985,871 (GRCm39)	missense	probably benign	0.05
R4964:Unc93b1	UTSW	19	3,992,023 (GRCm39)	splice site	probably null
R4966:Unc93b1	UTSW	19	3,992,023 (GRCm39)	splice site	probably null
R5056:Unc93b1	UTSW	19	3,992,762 (GRCm39)	missense	possibly damaging	0.45
R5166:Unc93b1	UTSW	19	3,994,027 (GRCm39)	missense	probably damaging	1.00
R5441:Unc93b1	UTSW	19	3,993,703 (GRCm39)	missense	probably benign	0.01
R5892:Unc93b1	UTSW	19	3,993,632 (GRCm39)	missense	probably damaging	1.00
R6382:Unc93b1	UTSW	19	3,985,297 (GRCm39)	missense	probably benign	0.19
R6556:Unc93b1	UTSW	19	3,994,105 (GRCm39)	missense	probably benign
R6962:Unc93b1	UTSW	19	3,986,303 (GRCm39)	missense	possibly damaging	0.57
R7143:Unc93b1	UTSW	19	3,985,204 (GRCm39)	missense	unknown
R7748:Unc93b1	UTSW	19	3,985,250 (GRCm39)	missense	unknown
R8198:Unc93b1	UTSW	19	3,991,910 (GRCm39)	missense	possibly damaging	0.51
R9212:Unc93b1	UTSW	19	3,993,557 (GRCm39)	missense	probably damaging	1.00
R9503:Unc93b1	UTSW	19	3,986,373 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

Posted On

2019-12-20