Mutagenetix > Incidental Mutation

Incidental Mutation 'R9212:Unc93b1'

698971

Institutional Source

Beutler Lab

Gene Symbol

Unc93b1

Ensembl Gene

ENSMUSG00000036908

Gene Name

unc-93 homolog B1, TLR signaling regulator

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3985222-3999340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3993557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 333 (R333Q)

Ref Sequence

ENSEMBL: ENSMUSP00000124272 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000162708
AA Change: R333Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124272
Gene: ENSMUSG00000036908
AA Change: R333Q

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 damaging
Transcript: ENSMUST00000165711
AA Change: R333Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128751
Gene: ENSMUSG00000036908
AA Change: R333Q

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

Validation Efficiency

100% (57/57)

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
Aass	T	C	6: 23,075,767 (GRCm39)	D790G	probably damaging	Het
Abcb4	C	T	5: 9,005,591 (GRCm39)	P1158L	probably damaging	Het
Actn3	T	C	19: 4,914,565 (GRCm39)	D521G	probably benign	Het
Adhfe1	A	T	1: 9,637,036 (GRCm39)	D396V	possibly damaging	Het
Arhgap28	A	G	17: 68,162,430 (GRCm39)	M639T	probably benign	Het
Asb18	T	C	1: 89,880,447 (GRCm39)	T453A	probably benign	Het
Asxl3	T	C	18: 22,655,389 (GRCm39)	I1133T	probably benign	Het
C2cd4b	G	A	9: 67,667,028 (GRCm39)	R8H	probably damaging	Het
Ccdc91	A	G	6: 147,508,398 (GRCm39)	I375V	unknown	Het
Cdh24	T	A	14: 54,878,679 (GRCm39)		probably benign	Het
Cfap57	T	A	4: 118,436,649 (GRCm39)	I916F	possibly damaging	Het
Cfap65	G	A	1: 74,959,567 (GRCm39)	T861I	probably benign	Het
Chd1	T	G	17: 15,950,767 (GRCm39)	S153A	possibly damaging	Het
Cit	A	T	5: 116,013,952 (GRCm39)	I222F	possibly damaging	Het
Clip1	T	A	5: 123,721,399 (GRCm39)	K1165N	probably damaging	Het
Cln6	A	G	9: 62,757,973 (GRCm39)	H244R	probably damaging	Het
Col19a1	A	T	1: 24,500,555 (GRCm39)		probably null	Het
Dhx57	T	G	17: 80,576,338 (GRCm39)	D584A	probably damaging	Het
Dnah14	G	A	1: 181,628,852 (GRCm39)	V4123M	possibly damaging	Het
Fam193a	T	C	5: 34,597,481 (GRCm39)	V94A	probably benign	Het
Fzd6	A	G	15: 38,898,289 (GRCm39)	H543R	probably damaging	Het
Gad2	T	A	2: 22,571,399 (GRCm39)	C446S	probably damaging	Het
Gm29106	A	G	1: 118,127,270 (GRCm39)	R321G	probably damaging	Het
Gon4l	T	C	3: 88,803,730 (GRCm39)	V1447A	probably benign	Het
Hus1b	A	C	13: 31,130,858 (GRCm39)	I267S	possibly damaging	Het
Kifap3	C	T	1: 163,610,600 (GRCm39)	L27F	probably damaging	Het
Lancl2	A	C	6: 57,714,673 (GRCm39)	I431L	probably benign	Het
Ltbp2	G	A	12: 84,839,824 (GRCm39)	P1069S	probably damaging	Het
Mrgprb2	A	T	7: 48,202,392 (GRCm39)	V111D	possibly damaging	Het
Mta3	A	T	17: 84,015,846 (GRCm39)	N16I	probably damaging	Het
Npepps	G	T	11: 97,129,047 (GRCm39)	A379E	probably damaging	Het
Nppc	G	T	1: 86,597,619 (GRCm39)	Q50K	possibly damaging	Het
Or2a51	T	A	6: 43,178,756 (GRCm39)	Y59*	probably null	Het
Or5p54	C	A	7: 107,554,017 (GRCm39)	H56Q	probably benign	Het
Orc2	A	G	1: 58,515,695 (GRCm39)	L271P	probably damaging	Het
Papolg	T	C	11: 23,823,817 (GRCm39)	T334A	probably benign	Het
Pikfyve	T	C	1: 65,291,719 (GRCm39)	S1313P	probably damaging	Het
Ppp2r3d	T	C	9: 101,063,175 (GRCm39)	T154A	probably benign	Het
Ptprz1	A	G	6: 23,050,493 (GRCm39)	M2254V	probably damaging	Het
Rabgap1	T	C	2: 37,377,152 (GRCm39)	V328A	probably damaging	Het
Rnf17	T	C	14: 56,761,785 (GRCm39)	V1616A	probably damaging	Het
Rph3a	T	A	5: 121,086,005 (GRCm39)	H477L	possibly damaging	Het
Rttn	T	C	18: 89,064,286 (GRCm39)		probably null	Het
Ryr2	A	C	13: 11,844,560 (GRCm39)	I392S	probably damaging	Het
Sbsn	A	G	7: 30,452,427 (GRCm39)	N481D	probably benign	Het
Sf3a3	G	A	4: 124,621,921 (GRCm39)	E354K	possibly damaging	Het
Slc15a2	A	C	16: 36,602,053 (GRCm39)	Y81*	probably null	Het
Slc5a2	C	A	7: 127,867,939 (GRCm39)	Q202K	probably damaging	Het
Spata31h1	T	C	10: 82,118,979 (GRCm39)	N4677S	possibly damaging	Het
Stxbp2	G	C	8: 3,686,220 (GRCm39)	K313N		Het
Tbc1d2b	A	T	9: 90,087,183 (GRCm39)	L932Q	possibly damaging	Het
Trim24	A	T	6: 37,896,335 (GRCm39)	Q264L	probably benign	Het
Tubgcp3	A	G	8: 12,691,200 (GRCm39)	V446A	possibly damaging	Het
Wdr24	T	C	17: 26,043,472 (GRCm39)	V98A	probably benign	Het
Wdr62	G	A	7: 29,942,563 (GRCm39)	S1015L	probably damaging	Het
Zfp280d	A	G	9: 72,269,789 (GRCm39)	*975W	probably null	Het
Zfp317	A	T	9: 19,558,442 (GRCm39)	K219*	probably null	Het
Zfp974	A	G	7: 27,610,052 (GRCm39)	S558P	possibly damaging	Het
Zfp986	A	G	4: 145,625,798 (GRCm39)	K153E	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
R7866:Unc93b1	UTSW	19	3,985,243 (GRCm39)	missense	not run
R8198:Unc93b1	UTSW	19	3,991,910 (GRCm39)	missense	possibly damaging	0.51
R9503:Unc93b1	UTSW	19	3,986,373 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GGGACTGCAGCTCACTTTTCTG -3'
(R):5'- TTGTCTGTTCTTACCAGGGC -3'

Sequencing Primer
(F):5'- CTGGAACTCTCTATGTAGACCAGG -3'
(R):5'- GTCTGTTCTTACCAGGGCAAAAC -3'

Posted On

2022-02-07