Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03149:Unc93b1'

410998

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Unc93b1

Ensembl Gene

ENSMUSG00000036908

Gene Name

unc-93 homolog B1, TLR signaling regulator

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03149

Quality Score

Status

Chromosome

Chromosomal Location

3985222-3999340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3994041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 391 (M391V)

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 benign
Transcript: ENSMUST00000162708
AA Change: M391V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124272
Gene: ENSMUSG00000036908
AA Change: M391V

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	A	G	8: 78,136,167 (GRCm39)		probably benign	Het
Arhgap42	A	G	9: 9,008,085 (GRCm39)	I546T	possibly damaging	Het
Arsj	A	T	3: 126,233,053 (GRCm39)		probably benign	Het
Ash2l	A	G	8: 26,308,650 (GRCm39)	V543A	probably benign	Het
B4galnt3	A	G	6: 120,208,555 (GRCm39)		probably benign	Het
Blvra	T	A	2: 126,924,871 (GRCm39)	V11E	probably damaging	Het
Calcb	T	C	7: 114,319,371 (GRCm39)	L51P	probably damaging	Het
Cd36	T	A	5: 18,025,563 (GRCm39)	K52N	probably benign	Het
Cebpz	T	C	17: 79,229,982 (GRCm39)	N857S	probably benign	Het
Ces1b	A	G	8: 93,791,502 (GRCm39)		probably benign	Het
Clspn	T	C	4: 126,470,295 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,848,674 (GRCm39)	L283H	probably damaging	Het
Ctc1	T	C	11: 68,921,987 (GRCm39)	V811A	possibly damaging	Het
Ctsk	T	C	3: 95,408,730 (GRCm39)	S65P	possibly damaging	Het
Ddx51	A	G	5: 110,801,600 (GRCm39)	N83D	probably benign	Het
Eci2	T	C	13: 35,172,296 (GRCm39)	T146A	probably benign	Het
Erbin	T	C	13: 103,977,671 (GRCm39)	N629D	possibly damaging	Het
Etfbkmt	A	G	6: 149,045,781 (GRCm39)	E45G	probably damaging	Het
Fat4	A	G	3: 39,045,834 (GRCm39)	N3951S	probably damaging	Het
Fktn	T	C	4: 53,744,653 (GRCm39)	V311A	probably benign	Het
Garem1	G	T	18: 21,264,523 (GRCm39)	P534T	probably damaging	Het
Gm8237	A	G	14: 5,864,451 (GRCm38)	I37T	probably benign	Het
Ikzf5	T	C	7: 130,998,494 (GRCm39)	K13E	probably damaging	Het
Kl	T	A	5: 150,906,200 (GRCm39)	C523*	probably null	Het
Klhl7	G	A	5: 24,364,687 (GRCm39)	V574I	probably benign	Het
Lyst	T	C	13: 13,856,029 (GRCm39)	V2450A	probably benign	Het
Map3k6	A	T	4: 132,976,999 (GRCm39)	I819F	probably damaging	Het
Mphosph9	T	C	5: 124,401,074 (GRCm39)	E891G	probably damaging	Het
Myo7b	A	G	18: 32,147,355 (GRCm39)	S63P	probably damaging	Het
Ndufaf7	C	T	17: 79,252,439 (GRCm39)	R283C	possibly damaging	Het
Nepro	G	T	16: 44,547,462 (GRCm39)	A60S	probably damaging	Het
Nop56	T	C	2: 130,119,445 (GRCm39)	S354P	probably damaging	Het
Nwd2	T	A	5: 63,963,338 (GRCm39)	L974H	probably damaging	Het
Or4a80	T	C	2: 89,583,172 (GRCm39)		probably null	Het
Or52ad1	A	T	7: 102,996,056 (GRCm39)	H26Q	probably benign	Het
Pacsin3	T	A	2: 91,091,852 (GRCm39)		probably benign	Het
Parp12	C	T	6: 39,091,165 (GRCm39)	D142N	probably benign	Het
Pcdh15	G	A	10: 74,466,527 (GRCm39)	D1449N	probably damaging	Het
Pcsk7	C	T	9: 45,820,778 (GRCm39)	T70M	probably benign	Het
Pld4	T	C	12: 112,733,263 (GRCm39)	F280L	probably benign	Het
Ppm1k	C	A	6: 57,501,759 (GRCm39)	A135S	probably damaging	Het
Prkcq	A	T	2: 11,237,356 (GRCm39)	Y45F	probably benign	Het
Prom1	T	A	5: 44,187,076 (GRCm39)	I385F	probably damaging	Het
Prss12	A	G	3: 123,299,036 (GRCm39)	N603D	probably benign	Het
Ptbp2	G	T	3: 119,514,074 (GRCm39)	T501K	possibly damaging	Het
Ranbp17	C	A	11: 33,193,183 (GRCm39)	R957L	possibly damaging	Het
Rasl10a	T	C	11: 5,008,429 (GRCm39)	Y42H	possibly damaging	Het
Serpina9	G	A	12: 103,974,869 (GRCm39)	Q95*	probably null	Het
Serpinb1b	C	A	13: 33,269,275 (GRCm39)	Q3K	possibly damaging	Het
Sgo2b	T	A	8: 64,379,617 (GRCm39)	M1072L	probably benign	Het
Slc1a5	T	C	7: 16,523,745 (GRCm39)	V250A	probably damaging	Het
Slc30a6	T	C	17: 74,730,018 (GRCm39)	S303P	probably damaging	Het
Tbc1d2	A	T	4: 46,637,619 (GRCm39)	I209N	probably benign	Het
Tmc4	T	A	7: 3,670,177 (GRCm39)	I484L	probably benign	Het
Ttll5	G	A	12: 85,965,758 (GRCm39)	E36K	probably damaging	Het
Xpo5	T	A	17: 46,526,740 (GRCm39)		probably null	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
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
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

Posted On

2016-08-02