Mutagenetix > Incidental Mutations

Incidental Mutation 'R4829:Unc93b1'

372714

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

042445-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4829 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3935186-3949340 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3944293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 475 (S475C)

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 damaging
Transcript: ENSMUST00000162708
AA Change: S475C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124272
Gene: ENSMUSG00000036908
AA Change: S475C

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

Meta Mutation Damage Score

0.6256

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

98% (109/111)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,069,019	V1323A	probably damaging	Het
1700029J07Rik	T	C	8: 45,967,915	I159V	probably damaging	Het
1700061G19Rik	A	G	17: 56,883,500		probably null	Het
Abcb1a	T	C	5: 8,723,214	L814P	probably damaging	Het
Acat1	C	A	9: 53,591,456	G191V	probably damaging	Het
Adamts20	A	T	15: 94,326,396	D1184E	probably benign	Het
Adssl1	T	C	12: 112,634,713	L283P	probably damaging	Het
Arid4a	A	G	12: 71,023,498		probably null	Het
Arid4b	T	A	13: 14,184,438	D599E	probably benign	Het
AW146154	T	C	7: 41,480,633	K353R	possibly damaging	Het
Axdnd1	G	T	1: 156,376,646	R547S	possibly damaging	Het
BC067074	A	G	13: 113,368,162	I1942V	probably benign	Het
BC147527	G	A	13: 120,308,390	C82Y	possibly damaging	Het
Bcat1	A	T	6: 145,015,475	F134Y	probably damaging	Het
Camk2d	C	A	3: 126,779,997		probably benign	Het
Catsperg2	T	G	7: 29,701,125	K268T	probably damaging	Het
Ccar1	A	C	10: 62,745,335	F1103L	unknown	Het
Ccdc141	T	A	2: 77,074,916	E395D	probably damaging	Het
Cdc37l1	A	G	19: 28,990,583	T16A	probably benign	Het
Cdca2	T	A	14: 67,693,753		probably null	Het
Cntn5	T	G	9: 9,976,283	K219Q	probably damaging	Het
Col23a1	C	A	11: 51,557,586	A202E	unknown	Het
Csmd1	G	A	8: 16,127,296	L1318F	probably damaging	Het
Csnk1g3	C	T	18: 53,895,823	A16V	possibly damaging	Het
Dab2	A	G	15: 6,424,681	D224G	probably damaging	Het
Ddr1	A	T	17: 35,685,113	C625S	probably damaging	Het
Dennd4a	T	C	9: 64,889,056	V788A	probably damaging	Het
Dgcr2	T	C	16: 17,842,753	E402G	possibly damaging	Het
Dhcr7	T	G	7: 143,837,917	I81S	probably damaging	Het
Exd1	C	T	2: 119,520,326	A485T	probably benign	Het
Fat1	C	T	8: 45,036,162	T3467I	probably damaging	Het
Fblim1	T	C	4: 141,584,709	E235G	probably damaging	Het
Fbxo38	T	A	18: 62,518,591	M548L	probably benign	Het
Fstl5	T	C	3: 76,322,182	Y97H	probably damaging	Het
Glb1l	A	T	1: 75,200,350	S481T	probably damaging	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gp2	A	T	7: 119,457,184	V22E	possibly damaging	Het
Grin1	A	G	2: 25,318,724	S55P	possibly damaging	Het
Herc2	A	G	7: 56,106,492	D760G	probably benign	Het
Hpn	A	G	7: 31,098,875		probably benign	Het
Hsf2	T	C	10: 57,496,170	V73A	probably damaging	Het
Ighv1-42	T	C	12: 114,937,168	Y80C	probably benign	Het
Ighv1-64	T	C	12: 115,507,726	K57R	probably benign	Het
Klc1	T	C	12: 111,795,603	I569T	probably damaging	Het
Klra3	T	G	6: 130,323,616	K263N	probably benign	Het
Lrcol1	C	A	5: 110,354,527	H90N	probably benign	Het
Mamdc4	T	C	2: 25,565,356	E921G	possibly damaging	Het
Mark1	G	A	1: 184,905,527	R622W	possibly damaging	Het
Mdga1	A	G	17: 29,846,369	S696P	possibly damaging	Het
Mmp1b	C	T	9: 7,370,729		probably null	Het
Mtnr1a	T	C	8: 45,085,615		probably benign	Het
Myo5a	T	C	9: 75,136,407	I226T	probably damaging	Het
Ncoa6	G	T	2: 155,415,227	P799T	probably damaging	Het
Npc1l1	C	T	11: 6,214,010		probably null	Het
Nxph3	T	C	11: 95,511,495	E31G	probably benign	Het
Obscn	T	C	11: 59,054,246	I4649V	probably null	Het
Olfr1100	G	A	2: 86,978,574	S74L	probably damaging	Het
Olfr875	G	T	9: 37,772,947	C96F	probably damaging	Het
Olfr955	A	T	9: 39,470,367	Y120N	probably damaging	Het
Olfr960	A	T	9: 39,623,438	H103L	probably damaging	Het
P3h3	G	A	6: 124,841,638		probably benign	Het
Pcnx2	A	T	8: 125,861,058		probably null	Het
Pirb	C	T	7: 3,717,603	G299S	probably benign	Het
Pla2g4d	A	G	2: 120,266,743	S792P	probably damaging	Het
Plppr4	A	T	3: 117,335,591	L76M	possibly damaging	Het
Ppp2r3a	A	T	9: 101,212,510	S205T	possibly damaging	Het
Prkdc	G	A	16: 15,702,075	D1126N	possibly damaging	Het
Prrt4	G	A	6: 29,177,182	S196L	probably benign	Het
Ptpn21	A	C	12: 98,689,296	S471A	probably damaging	Het
Ptprk	C	A	10: 28,580,484	S9*	probably null	Het
Rassf4	A	T	6: 116,645,142	I163K	possibly damaging	Het
Rgs22	C	A	15: 36,103,888	R142S	probably damaging	Het
Rit2	C	A	18: 31,212,673	L73F	probably damaging	Het
Rrbp1	A	C	2: 143,989,687	S187A	probably benign	Het
Rspo2	A	T	15: 43,093,187	Y83*	probably null	Het
Scn5a	C	T	9: 119,534,707	V456M	probably benign	Het
Scn9a	T	A	2: 66,551,713	H290L	probably benign	Het
Smarca4	T	C	9: 21,639,327	I452T	probably damaging	Het
Smc2	T	A	4: 52,449,612	I198K	probably damaging	Het
Smim14	G	A	5: 65,460,603		probably benign	Het
Spg11	A	C	2: 122,108,455	N339K	probably benign	Het
Spta1	A	G	1: 174,237,927	E2014G	probably benign	Het
Stk4	T	C	2: 164,099,827		probably null	Het
Sypl	C	T	12: 32,967,646	T121M	probably damaging	Het
Tas2r120	T	A	6: 132,657,368	F138I	probably benign	Het
Tet2	A	C	3: 133,476,620	C1194W	possibly damaging	Het
Tex29	T	C	8: 11,855,668		probably benign	Het
Tnfrsf22	T	A	7: 143,643,330	T91S	possibly damaging	Het
Tnik	A	T	3: 28,539,541		probably benign	Het
Tnr	A	T	1: 159,858,404	I402F	probably benign	Het
Utrn	T	A	10: 12,663,461	E1937D	probably benign	Het
Vmn1r227	A	T	17: 20,735,665		noncoding transcript	Het
Vmn2r101	G	A	17: 19,611,967	V742I	probably benign	Het
Vmn2r81	T	C	10: 79,247,801	L3P	possibly damaging	Het
Zfp882	T	G	8: 71,914,389	H353Q	probably damaging	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
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
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'- TACCTGCTCATAGCTTACAGCC -3'
(R):5'- GTGTCCACAGAAGTCTTTTCAC -3'

Sequencing Primer
(F):5'- CTCATAGCTTACAGCCTGGGTG -3'
(R):5'- AGAAGTCTTTTCACCCCAGACTATG -3'

Posted On

2016-03-01