Mutagenetix > Incidental Mutation

Incidental Mutation 'R6382:Unc93b1'

515400

Institutional Source

Beutler Lab

Gene Symbol

Unc93b1

Ensembl Gene

ENSMUSG00000036908

Gene Name

unc-93 homolog B1, TLR signaling regulator

Synonyms

MMRRC Submission

044531-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6382 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3985222-3999340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 3985297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 35 (A35E)

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: ENSMUST00000162193

Predicted Effect

probably benign
Transcript: ENSMUST00000162708
AA Change: A35E

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124272
Gene: ENSMUSG00000036908
AA Change: A35E

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
AA Change: A35E

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000128751
Gene: ENSMUSG00000036908
AA Change: A35E

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: 99.9%
10x: 99.4%
20x: 97.5%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,418,850 (GRCm39)	M148K	probably benign	Het
Aldoc	T	C	11: 78,216,568 (GRCm39)	I242T	probably benign	Het
Camta2	T	C	11: 70,562,867 (GRCm39)	T927A	probably damaging	Het
Ccdc30	T	C	4: 119,261,363 (GRCm39)	R25G	possibly damaging	Het
Cdh16	T	A	8: 105,348,175 (GRCm39)	M181L	possibly damaging	Het
Clstn1	A	T	4: 149,710,577 (GRCm39)		probably null	Het
Cnot6l	C	A	5: 96,276,858 (GRCm39)	R110L	probably damaging	Het
Col7a1	G	A	9: 108,804,461 (GRCm39)	S2264N	unknown	Het
Cspp1	A	G	1: 10,153,700 (GRCm39)		probably null	Het
Cul1	T	A	6: 47,479,373 (GRCm39)	L213Q	probably damaging	Het
Cuta	T	C	17: 27,157,428 (GRCm39)	Q124R	probably benign	Het
Cyp1a1	T	A	9: 57,607,973 (GRCm39)	N200K	probably damaging	Het
Dag1	C	A	9: 108,085,336 (GRCm39)	A602S	possibly damaging	Het
Ftdc1	T	C	16: 58,434,273 (GRCm39)	E148G	possibly damaging	Het
Gm4707	G	A	17: 71,766,238 (GRCm39)		probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
H2-T23	T	C	17: 36,342,724 (GRCm39)	Y138C	probably damaging	Het
Hnf4a	A	T	2: 163,410,926 (GRCm39)	M408L	probably benign	Het
Hpse2	A	G	19: 43,376,641 (GRCm39)	L37P	possibly damaging	Het
Hsd17b6	A	T	10: 127,827,196 (GRCm39)	I292N	probably damaging	Het
Hsp90aa1	A	T	12: 110,661,951 (GRCm39)		probably null	Het
Ifit1bl1	T	A	19: 34,572,283 (GRCm39)	Y58F	probably benign	Het
Igkv10-95	A	G	6: 68,657,672 (GRCm39)	T43A	probably benign	Het
Igkv6-17	C	T	6: 70,348,814 (GRCm39)	Q62*	probably null	Het
Jakmip2	A	G	18: 43,704,244 (GRCm39)	S367P	possibly damaging	Het
Lrrc40	A	G	3: 157,764,333 (GRCm39)	D416G	probably damaging	Het
Mdm2	A	G	10: 117,528,626 (GRCm39)	V177A	probably benign	Het
Mpp1	TGAGACGAACTCTCCGAG	TGAG	X: 74,169,375 (GRCm39)		probably null	Het
Myo1b	C	T	1: 51,813,466 (GRCm39)		probably null	Het
Notch2	A	G	3: 98,048,859 (GRCm39)	D1799G	probably damaging	Het
Obscn	C	T	11: 58,890,239 (GRCm39)	G7431D	unknown	Het
Obscn	A	T	11: 58,933,034 (GRCm39)	C4781S	probably damaging	Het
Or2a14	T	A	6: 43,130,899 (GRCm39)	I220N	probably damaging	Het
Or7a35	C	A	10: 78,853,351 (GRCm39)	S65Y	probably damaging	Het
Pard3	T	A	8: 128,103,264 (GRCm39)	V411D	probably damaging	Het
Pfkl	T	C	10: 77,835,671 (GRCm39)	R246G	probably damaging	Het
Pgs1	T	C	11: 117,894,186 (GRCm39)	Y238H	probably damaging	Het
Pik3c2g	A	G	6: 139,665,724 (GRCm39)	E15G	possibly damaging	Het
Pja2	A	G	17: 64,616,610 (GRCm39)	V95A	probably benign	Het
Ripor2	T	C	13: 24,861,828 (GRCm39)	I207T	possibly damaging	Het
Rps15	A	G	10: 80,129,820 (GRCm39)	Y115C	probably damaging	Het
Shkbp1	C	A	7: 27,051,484 (GRCm39)	E192*	probably null	Het
Slc23a4	T	A	6: 34,933,978 (GRCm39)	M42L	probably benign	Het
Snx25	T	A	8: 46,509,028 (GRCm39)	S373C	probably benign	Het
Sppl2a	A	T	2: 126,758,949 (GRCm39)		probably null	Het
Tektl1	G	A	10: 78,588,675 (GRCm39)	T45I	possibly damaging	Het
Tpcn2	A	G	7: 144,823,486 (GRCm39)	S256P	possibly damaging	Het
Txk	C	T	5: 72,893,823 (GRCm39)		probably benign	Het
Ubr2	C	G	17: 47,268,241 (GRCm39)	W991S	possibly damaging	Het
Ufc1	A	G	1: 171,122,248 (GRCm39)	W28R	probably damaging	Het
Ush2a	A	G	1: 188,546,499 (GRCm39)	N3425S	probably benign	Het
Vmn1r32	A	G	6: 66,530,345 (GRCm39)	Y144H	probably benign	Het
Vmn1r76	A	G	7: 11,664,426 (GRCm39)	F228L	probably damaging	Het
Zfc3h1	A	G	10: 115,243,813 (GRCm39)	N715D	probably benign	Het
Zfp933	T	C	4: 147,910,325 (GRCm39)	S424G	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
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'- CATGGACAGTATTAGGAGGAGGC -3'
(R):5'- CCATCCCCTATTCCAGAGTGTGTT -3'

Sequencing Primer
(F):5'- TATTAGGAGGAGGCGGCCC -3'
(R):5'- CAGAGTGTGTTCCTACTCTGAGAC -3'

Posted On

2018-05-04