Mutagenetix > Incidental Mutations

Incidental Mutation 'R4964:Unc93b1'

383849

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

042561-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3935186-3949340 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 3942023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128751 (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 null
Transcript: ENSMUST00000162708

SMART Domains

Protein: ENSMUSP00000124272
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	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 null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

98% (100/102)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,474,221		probably benign	Het
9030619P08Rik	T	A	15: 75,431,418		noncoding transcript	Het
9030624J02Rik	T	C	7: 118,780,268	I426T	possibly damaging	Het
A430033K04Rik	G	T	5: 138,646,857	E335*	probably null	Het
Abcb1b	A	T	5: 8,812,671	T118S	probably benign	Het
Abcb1b	T	A	5: 8,861,602	I133N	probably damaging	Het
Acox3	A	G	5: 35,589,736	N166D	probably damaging	Het
Adam5	T	C	8: 24,786,232	Y473C	probably damaging	Het
Ankmy2	A	G	12: 36,186,918	K242E	possibly damaging	Het
Apc2	A	C	10: 80,314,007	I1603L	probably benign	Het
Arhgef25	T	A	10: 127,185,603	I249F	probably damaging	Het
Birc3	T	C	9: 7,860,552	H255R	probably benign	Het
Cables1	A	T	18: 11,941,277	R486W	possibly damaging	Het
Caskin1	A	T	17: 24,507,161	D1414V	probably damaging	Het
Ccdc175	A	G	12: 72,180,845	S55P	probably damaging	Het
Ccdc57	A	T	11: 120,861,152	S868T	probably benign	Het
Ccny	A	T	18: 9,449,516		probably null	Het
Cdc34b	A	T	11: 94,742,261	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,622,073	F69L	possibly damaging	Het
Cul9	C	T	17: 46,538,525	D565N	probably damaging	Het
Cxcl16	A	G	11: 70,455,693	V208A	probably benign	Het
Cyb5rl	A	G	4: 107,069,132		probably benign	Het
Ddx18	T	C	1: 121,566,094	K54E	probably benign	Het
Ddx60	G	A	8: 61,979,338	V885I	probably damaging	Het
Dlg1	C	T	16: 31,754,808	T9I	probably benign	Het
Dnase1	T	C	16: 4,037,907		probably benign	Het
Drd4	T	C	7: 141,293,777	M114T	probably damaging	Het
Egfr	A	T	11: 16,908,949	D976V	probably damaging	Het
Eif2s1	T	A	12: 78,880,011	N178K	probably benign	Het
Exoc3l4	A	G	12: 111,428,721	H591R	probably benign	Het
Galntl6	T	C	8: 58,699,911		probably benign	Het
Glipr1l2	T	A	10: 112,106,999	I253K	possibly damaging	Het
Gnat1	A	T	9: 107,677,234	M115K	probably benign	Het
Gtsf2	T	C	15: 103,444,328	E88G	possibly damaging	Het
Hormad1	T	A	3: 95,585,220		probably null	Het
Hydin	A	T	8: 110,490,673	I1398F	possibly damaging	Het
Ifnar1	T	C	16: 91,505,086	V483A	probably benign	Het
Ints11	T	C	4: 155,886,928	F278L	probably damaging	Het
Ints6	A	G	14: 62,702,462	L593P	probably damaging	Het
Krt7	C	T	15: 101,413,972	R104C	probably damaging	Het
Map4k1	A	T	7: 28,983,002	H16L	probably benign	Het
Mef2d	T	A	3: 88,168,097	I422N	probably damaging	Het
Mipep	G	T	14: 60,784,782	R32L	probably damaging	Het
Mon1a	A	G	9: 107,902,651	E473G	probably damaging	Het
Mterf2	T	A	10: 85,120,115	Q215L	probably damaging	Het
Mybpc1	T	A	10: 88,555,663	Y324F	probably benign	Het
Myh11	T	C	16: 14,205,954	E1512G	probably damaging	Het
Myo1g	A	T	11: 6,515,976	F370I	probably damaging	Het
Myo5c	T	A	9: 75,297,509	M1548K	possibly damaging	Het
Myof	T	A	19: 37,935,852	I1306F	probably damaging	Het
Nle1	A	G	11: 82,908,192	F21S	probably damaging	Het
Noc2l	C	G	4: 156,245,911	D513E	probably damaging	Het
Olfr23	A	T	11: 73,941,202	I319F	probably benign	Het
Olfr30	A	G	11: 58,455,907	V14A	probably benign	Het
Orc1	T	C	4: 108,614,473	*841R	probably null	Het
Patz1	A	G	11: 3,307,720	D573G	probably damaging	Het
Pcdhga3	A	G	18: 37,676,101	T536A	probably benign	Het
Pde6h	C	T	6: 136,961,203	T58I	possibly damaging	Het
Pip5k1a	T	C	3: 95,070,783	I275V	probably benign	Het
Pkd1	T	C	17: 24,586,068		probably null	Het
Polr1e	G	A	4: 45,029,429	A297T	probably damaging	Het
Polrmt	A	G	10: 79,746,551	M1T	probably null	Het
Rbm34	T	C	8: 126,951,337	D269G	possibly damaging	Het
Rnf122	T	A	8: 31,112,149	M1K	probably null	Het
Rnf32	G	A	5: 29,198,578	R7H	probably benign	Het
Ryr2	T	C	13: 11,714,611	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,833,992	T361A	probably benign	Het
Serpina3m	T	C	12: 104,389,101	I9T	probably benign	Het
Serpinb9	T	A	13: 33,008,864	W135R	probably damaging	Het
Sf3b1	T	C	1: 54,999,712	N804S	probably benign	Het
Shroom1	A	G	11: 53,465,172	T350A	probably benign	Het
Slc24a5	G	A	2: 125,068,268	V30I	probably benign	Het
Slc38a8	A	T	8: 119,482,684		probably null	Het
Smarcd1	A	G	15: 99,707,981	S378G	possibly damaging	Het
Stx1b	T	C	7: 127,807,921	I55V	probably damaging	Het
Sult2a8	A	G	7: 14,425,532	V54A	probably damaging	Het
Tacc2	T	C	7: 130,728,777	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,458,174	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,973,473	I114T	probably benign	Het
Tmco6	T	C	18: 36,735,502		probably null	Het
Treh	T	C	9: 44,682,648	L144P	probably damaging	Het
Trmt2a	T	A	16: 18,249,554	C30*	probably null	Het
Ttbk2	A	T	2: 120,773,277	F258L	possibly damaging	Het
Ttn	T	C	2: 76,955,036	D665G	probably damaging	Het
Uroc1	T	C	6: 90,345,394	L300P	probably damaging	Het
Xbp1	A	G	11: 5,521,125	E44G	probably damaging	Het
Zfp451	A	T	1: 33,777,861	V119D	probably damaging	Het
Zfp457	T	A	13: 67,293,278	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,915,851	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,560,403	L171R	probably benign	Het
Zfp712	C	T	13: 67,040,612	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,197,387	N67S	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
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

Predicted Primers

PCR Primer
(F):5'- AACCTTTTACTCTGCTGGGC -3'
(R):5'- GAGAACTTCCTCCTGAGCAC -3'

Sequencing Primer
(F):5'- TTCCCCTGTGAAGCTGGCTAG -3'
(R):5'- TTCCTCCTGAGCACTGTGGAAG -3'

Posted On

2016-04-27