Mutagenetix > Incidental Mutation

Incidental Mutation 'R4080:Unc93b1'

316854

Institutional Source

Beutler Lab

Gene Symbol

Unc93b1

Ensembl Gene

ENSMUSG00000036908

Gene Name

unc-93 homolog B1, TLR signaling regulator

Synonyms

MMRRC Submission

040856-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4080 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3985222-3999340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3991959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 231 (R231Q)

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 damaging
Transcript: ENSMUST00000162708
AA Change: R231Q

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124272
Gene: ENSMUSG00000036908
AA Change: R231Q

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: R231Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128751
Gene: ENSMUSG00000036908
AA Change: R231Q

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,109,497 (GRCm39)	D324E	possibly damaging	Het
Adam7	T	C	14: 68,757,988 (GRCm39)	T245A	probably benign	Het
Adgrf3	G	A	5: 30,402,367 (GRCm39)	Q554*	probably null	Het
Aim2	T	C	1: 173,287,417 (GRCm39)		probably null	Het
Arhgef1	G	T	7: 24,625,271 (GRCm39)	D850Y	probably damaging	Het
Aspm	C	A	1: 139,398,493 (GRCm39)	Q1024K	probably damaging	Het
C7	T	C	15: 5,019,946 (GRCm39)	S734G	probably benign	Het
Ccdc158	A	T	5: 92,771,255 (GRCm39)	S987T	probably benign	Het
Chrna2	C	A	14: 66,380,873 (GRCm39)	Y47*	probably null	Het
Chrna2	G	T	14: 66,380,866 (GRCm39)	G45V	probably benign	Het
Clec2g	C	A	6: 128,958,287 (GRCm39)	Q117K	probably damaging	Het
Cntnap5a	A	G	1: 116,029,304 (GRCm39)	S253G	probably benign	Het
Cttn	T	A	7: 144,011,461 (GRCm39)	D116V	probably damaging	Het
Cyp2c40	A	G	19: 39,790,973 (GRCm39)	V286A	probably benign	Het
Dcbld2	T	A	16: 58,285,736 (GRCm39)	S632T	probably damaging	Het
Dscam	A	T	16: 96,484,972 (GRCm39)	N1118K	probably benign	Het
Eif2a	C	T	3: 58,447,050 (GRCm39)	T92M	possibly damaging	Het
Frmpd1	T	A	4: 45,284,382 (GRCm39)	C1068S	probably benign	Het
Fstl1	G	A	16: 37,642,965 (GRCm39)	V110I	probably benign	Het
Gpat2	T	C	2: 127,275,542 (GRCm39)	I465T	probably damaging	Het
Gpr137	C	T	19: 6,917,791 (GRCm39)		probably benign	Het
Hgsnat	A	G	8: 26,436,371 (GRCm39)	I561T	probably benign	Het
Ift74	T	A	4: 94,541,149 (GRCm39)		probably null	Het
Ilf3	A	G	9: 21,314,430 (GRCm39)		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrrc41	C	A	4: 115,937,743 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,923 (GRCm39)	R700L	possibly damaging	Het
Myo16	A	G	8: 10,612,240 (GRCm39)	D1295G	probably damaging	Het
Myo5b	A	G	18: 74,873,559 (GRCm39)	M1488V	probably benign	Het
Naip6	A	T	13: 100,435,815 (GRCm39)	Y903N	probably damaging	Het
Nek6	A	G	2: 38,440,649 (GRCm39)	H19R	probably damaging	Het
Nktr	A	C	9: 121,570,192 (GRCm39)	T127P	probably damaging	Het
Noc4l	A	T	5: 110,797,738 (GRCm39)	D335E	probably benign	Het
Nsd1	A	G	13: 55,449,622 (GRCm39)	D1993G	probably damaging	Het
Or1ad1	G	A	11: 50,875,683 (GRCm39)	D52N	probably damaging	Het
Or5h22	A	T	16: 58,894,619 (GRCm39)	F275I	probably damaging	Het
Pabpc2	A	T	18: 39,908,583 (GRCm39)	Q616L	possibly damaging	Het
Pcdhga4	A	T	18: 37,818,832 (GRCm39)	D127V	probably damaging	Het
Phrf1	T	C	7: 140,839,633 (GRCm39)		probably benign	Het
Phtf2	T	A	5: 21,018,294 (GRCm39)	I16F	probably damaging	Het
Plekhg3	G	T	12: 76,624,755 (GRCm39)	R1200L	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prorp	G	T	12: 55,351,398 (GRCm39)	V236F	possibly damaging	Het
Prss12	A	G	3: 123,279,134 (GRCm39)	N404D	probably benign	Het
Ptch2	C	G	4: 116,968,403 (GRCm39)	A926G	probably damaging	Het
Ptpra	T	C	2: 30,333,317 (GRCm39)	F6L	probably damaging	Het
Reck	T	C	4: 43,942,293 (GRCm39)	I853T	possibly damaging	Het
Reep6	G	A	10: 80,165,996 (GRCm39)		probably benign	Het
Rex2	T	A	4: 147,143,154 (GRCm39)	S547R	probably benign	Het
Rgs22	C	T	15: 36,107,222 (GRCm39)	E55K	probably damaging	Het
Rtl6	T	C	15: 84,441,202 (GRCm39)	T65A	possibly damaging	Het
Scarb1	G	T	5: 125,354,859 (GRCm39)	P491Q	probably damaging	Het
Scfd1	A	G	12: 51,478,302 (GRCm39)	S505G	probably benign	Het
Scube1	T	G	15: 83,492,948 (GRCm39)	Q904P	probably damaging	Het
Sis	T	C	3: 72,828,517 (GRCm39)	Y1186C	probably damaging	Het
Spta1	A	G	1: 174,041,632 (GRCm39)	D1334G	probably benign	Het
Spty2d1	T	C	7: 46,648,329 (GRCm39)	E200G	probably damaging	Het
Stard13	C	A	5: 151,016,294 (GRCm39)		probably null	Het
Sybu	T	C	15: 44,582,339 (GRCm39)	K95R	probably damaging	Het
Trappc9	T	A	15: 72,813,796 (GRCm39)	D488V	probably damaging	Het
Txk	G	A	5: 72,858,006 (GRCm39)	P381S	probably damaging	Het
Ubr2	A	T	17: 47,299,648 (GRCm39)	M198K	probably benign	Het
Unc5a	A	T	13: 55,152,294 (GRCm39)	T786S	possibly damaging	Het
Wfdc1	T	A	8: 120,410,532 (GRCm39)		probably null	Het
Zfp667	T	G	7: 6,308,105 (GRCm39)	C258G	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	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
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

Predicted Primers

PCR Primer
(F):5'- CTTGGTTTCCCCTGTGAAGCTG -3'
(R):5'- GAACTTCCTCCTGAGCACTGTG -3'

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

Posted On

2015-05-15