Mutagenetix > Incidental Mutation

Incidental Mutation 'R4514:Lrrc8b'

332786

Institutional Source

Beutler Lab

Gene Symbol

Lrrc8b

Ensembl Gene

ENSMUSG00000070639

Gene Name

leucine rich repeat containing 8 family, member B

Synonyms

R75581, 2210408K08Rik

MMRRC Submission

041588-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R4514 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

105563641-105637940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 105627819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 55 (C55F)

Ref Sequence

ENSEMBL: ENSMUSP00000108327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112707]

AlphaFold

Q5DU41

Predicted Effect

probably damaging
Transcript: ENSMUST00000112707
AA Change: C55F

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

SMART Domains

Protein: ENSMUSP00000108327
Gene: ENSMUSG00000070639
AA Change: C55F

Domain	Start	End	E-Value	Type
Pfam:Pannexin_like	1	334	2.9e-133	PFAM
LRR	509	536	5.27e1	SMART
LRR	584	607	2.03e1	SMART
LRR	632	654	1.97e1	SMART
LRR_TYP	655	678	4.79e-3	SMART
LRR	679	700	3.09e1	SMART
LRR_TYP	701	724	4.17e-3	SMART
LRR	747	770	2.17e-1	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	G	8: 25,308,152 (GRCm39)	T51P	probably damaging	Het
Akr1c20	A	C	13: 4,557,843 (GRCm39)	V201G	probably damaging	Het
Alg9	C	T	9: 50,716,654 (GRCm39)	T409M	possibly damaging	Het
Arpp21	T	A	9: 112,006,745 (GRCm39)	T155S	probably damaging	Het
Atm	T	A	9: 53,404,339 (GRCm39)	Q1334L	probably damaging	Het
Bptf	G	A	11: 106,968,518 (GRCm39)	T1055M	probably damaging	Het
Cd3g	C	A	9: 44,884,882 (GRCm39)	A121S	possibly damaging	Het
Cenpn	A	G	8: 117,660,135 (GRCm39)	Y68C	probably damaging	Het
Clock	A	G	5: 76,378,046 (GRCm39)	I618T	probably benign	Het
Cp	A	G	3: 20,042,177 (GRCm39)	M982V	probably damaging	Het
Csf3r	T	A	4: 125,933,653 (GRCm39)	S611T	possibly damaging	Het
Csn3	A	G	5: 88,077,997 (GRCm39)	T168A	unknown	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
D630003M21Rik	T	C	2: 158,046,722 (GRCm39)	T752A	probably benign	Het
Defb34	A	T	8: 19,176,522 (GRCm39)	D71V	probably damaging	Het
Dync1h1	T	A	12: 110,623,573 (GRCm39)	D3615E	possibly damaging	Het
Etl4	A	T	2: 20,666,709 (GRCm39)	T167S	probably damaging	Het
F5	T	A	1: 163,979,566 (GRCm39)		probably benign	Het
Got1l1	C	T	8: 27,688,513 (GRCm39)	M279I	probably benign	Het
Grm7	A	G	6: 111,335,265 (GRCm39)	T559A	possibly damaging	Het
Ifit1	A	T	19: 34,625,913 (GRCm39)	R350*	probably null	Het
Ighv2-5	T	C	12: 113,649,216 (GRCm39)	N79S	possibly damaging	Het
Igkv17-127	A	G	6: 67,838,498 (GRCm39)	I70V	possibly damaging	Het
Itga8	T	C	2: 12,187,547 (GRCm39)	S711G	probably benign	Het
Kndc1	A	G	7: 139,490,202 (GRCm39)	T235A	probably benign	Het
Lct	T	C	1: 128,228,251 (GRCm39)	I1081V	probably benign	Het
Lrwd1	T	C	5: 136,160,402 (GRCm39)	T311A	probably benign	Het
Mapk14	T	C	17: 28,943,798 (GRCm39)	F129S	probably damaging	Het
Mdga2	A	G	12: 66,763,496 (GRCm39)	I200T	probably damaging	Het
Mocos	T	A	18: 24,816,269 (GRCm39)	S615R	probably damaging	Het
Myh4	T	C	11: 67,146,395 (GRCm39)	V1456A	probably benign	Het
Myh9	T	C	15: 77,648,200 (GRCm39)	I1759V	probably benign	Het
Nat8f5	G	A	6: 85,794,405 (GRCm39)	T185I	possibly damaging	Het
Nav3	T	C	10: 109,529,943 (GRCm39)	I2133V	possibly damaging	Het
Ncam2	T	A	16: 81,309,884 (GRCm39)	M458K	probably benign	Het
Nphp1	T	C	2: 127,590,007 (GRCm39)	S532G	probably benign	Het
Oplah	A	G	15: 76,182,155 (GRCm39)	L1035P	probably damaging	Het
Or4p22	T	C	2: 88,317,709 (GRCm39)	V211A	probably benign	Het
Or52h2	C	T	7: 103,838,598 (GRCm39)	R272H	probably benign	Het
Pask	T	A	1: 93,249,855 (GRCm39)	Q515L	probably benign	Het
Poglut1	A	T	16: 38,369,778 (GRCm39)	F35I	probably benign	Het
Ppp1ca	T	G	19: 4,245,054 (GRCm39)	I319S	probably benign	Het
Psg25	T	A	7: 18,263,533 (GRCm39)	R97*	probably null	Het
Sars2	T	C	7: 28,441,709 (GRCm39)		probably null	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Slc16a7	T	G	10: 125,069,308 (GRCm39)		probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
St6gal2	A	T	17: 55,790,018 (GRCm39)	N351Y	probably benign	Het
Susd5	T	C	9: 113,924,992 (GRCm39)	F292L	probably benign	Het
Tmco5	T	A	2: 116,710,795 (GRCm39)	D38E	probably damaging	Het
Tubgcp2	G	A	7: 139,575,984 (GRCm39)	P893L	possibly damaging	Het
Uncx	A	G	5: 139,532,522 (GRCm39)	I196V	possibly damaging	Het
Zeb1	G	A	18: 5,759,007 (GRCm39)	C138Y	probably damaging	Het
Zfp609	A	G	9: 65,610,977 (GRCm39)	I662T	possibly damaging	Het
Zfp985	G	A	4: 147,668,020 (GRCm39)	C296Y	probably damaging	Het

Other mutations in Lrrc8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Lrrc8b	APN	5	105,628,365 (GRCm39)	missense	probably damaging	0.96
IGL00519:Lrrc8b	APN	5	105,629,591 (GRCm39)	missense	possibly damaging	0.82
IGL01732:Lrrc8b	APN	5	105,633,826 (GRCm39)	missense	probably damaging	1.00
IGL01799:Lrrc8b	APN	5	105,633,757 (GRCm39)	missense	probably benign
IGL02005:Lrrc8b	APN	5	105,628,920 (GRCm39)	missense	probably benign	0.22
IGL02205:Lrrc8b	APN	5	105,629,703 (GRCm39)	missense	probably benign	0.07
IGL03038:Lrrc8b	APN	5	105,629,358 (GRCm39)	missense	probably damaging	0.98
IGL03076:Lrrc8b	APN	5	105,629,415 (GRCm39)	missense	probably damaging	1.00
sospecho	UTSW	5	105,628,622 (GRCm39)	missense	probably damaging	1.00
Whiff	UTSW	5	105,628,137 (GRCm39)	missense	possibly damaging	0.80
IGL02796:Lrrc8b	UTSW	5	105,629,211 (GRCm39)	missense	probably damaging	1.00
R0647:Lrrc8b	UTSW	5	105,628,473 (GRCm39)	missense	possibly damaging	0.69
R0722:Lrrc8b	UTSW	5	105,627,978 (GRCm39)	missense	possibly damaging	0.89
R1382:Lrrc8b	UTSW	5	105,628,749 (GRCm39)	missense	probably damaging	1.00
R1437:Lrrc8b	UTSW	5	105,629,568 (GRCm39)	missense	probably damaging	1.00
R1801:Lrrc8b	UTSW	5	105,628,689 (GRCm39)	missense	probably damaging	1.00
R1888:Lrrc8b	UTSW	5	105,629,217 (GRCm39)	missense	probably benign	0.12
R1888:Lrrc8b	UTSW	5	105,629,217 (GRCm39)	missense	probably benign	0.12
R2169:Lrrc8b	UTSW	5	105,629,753 (GRCm39)	missense	probably damaging	0.99
R4898:Lrrc8b	UTSW	5	105,628,080 (GRCm39)	missense	probably benign	0.19
R5243:Lrrc8b	UTSW	5	105,628,812 (GRCm39)	missense	probably damaging	1.00
R5264:Lrrc8b	UTSW	5	105,628,118 (GRCm39)	missense	probably damaging	0.98
R5424:Lrrc8b	UTSW	5	105,628,569 (GRCm39)	missense	probably damaging	1.00
R5513:Lrrc8b	UTSW	5	105,633,850 (GRCm39)	missense	probably damaging	1.00
R5632:Lrrc8b	UTSW	5	105,628,163 (GRCm39)	missense	possibly damaging	0.81
R5799:Lrrc8b	UTSW	5	105,629,208 (GRCm39)	missense	probably benign	0.19
R5800:Lrrc8b	UTSW	5	105,629,208 (GRCm39)	missense	probably benign	0.19
R6637:Lrrc8b	UTSW	5	105,628,137 (GRCm39)	missense	possibly damaging	0.80
R7249:Lrrc8b	UTSW	5	105,629,133 (GRCm39)	missense	probably benign	0.23
R7253:Lrrc8b	UTSW	5	105,629,522 (GRCm39)	missense	probably benign	0.01
R7558:Lrrc8b	UTSW	5	105,629,577 (GRCm39)	missense	probably damaging	1.00
R8077:Lrrc8b	UTSW	5	105,627,883 (GRCm39)	missense	possibly damaging	0.48
R8423:Lrrc8b	UTSW	5	105,628,622 (GRCm39)	missense	probably damaging	1.00
R8480:Lrrc8b	UTSW	5	105,633,802 (GRCm39)	missense	probably damaging	1.00
R8765:Lrrc8b	UTSW	5	105,629,133 (GRCm39)	missense	probably benign
R8841:Lrrc8b	UTSW	5	105,628,188 (GRCm39)	missense	probably benign	0.00
R8912:Lrrc8b	UTSW	5	105,629,424 (GRCm39)	missense	probably damaging	1.00
R9040:Lrrc8b	UTSW	5	105,628,161 (GRCm39)	missense	probably benign	0.02
R9432:Lrrc8b	UTSW	5	105,633,888 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- ATGGCTTCAGCAACGTCTC -3'
(R):5'- AGCTGTTTCTCGTAGCAGACAG -3'

Sequencing Primer
(F):5'- CCTCTCTACAAGGGAGTCATGATTAC -3'
(R):5'- CAGCATCGATGTAGGAGTACTGCTG -3'

Posted On

2015-08-18