Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00822:Lrrc8c'

11842

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc8c

Ensembl Gene

ENSMUSG00000054720

Gene Name

leucine rich repeat containing 8 family, member C

Synonyms

E430036I04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00822

Quality Score

Status

Chromosome

Chromosomal Location

105667254-105760884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 105756174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 650 (A650S)

Ref Sequence

ENSEMBL: ENSMUSP00000066015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067924] [ENSMUST00000153754]

AlphaFold

Q8R502

Predicted Effect

probably benign
Transcript: ENSMUST00000067924
AA Change: A650S

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000066015
Gene: ENSMUSG00000054720
AA Change: A650S

Domain	Start	End	E-Value	Type
Pfam:Pannexin_like	1	338	5.7e-152	PFAM
low complexity region	398	407	N/A	INTRINSIC
LRR	588	611	3.97e0	SMART
LRR	613	635	1.81e2	SMART
LRR	636	658	2.2e1	SMART
LRR_TYP	659	682	1.45e-2	SMART
LRR	684	703	3.56e2	SMART
LRR	705	728	2.92e1	SMART
LRR	751	774	1.09e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153754

SMART Domains

Protein: ENSMUSP00000114899
Gene: ENSMUSG00000054720

Domain	Start	End	E-Value	Type
Pfam:DUF3733	1	65	4.8e-35	PFAM
low complexity region	78	93	N/A	INTRINSIC
Pfam:DUF3733	99	158	1.7e-26	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction in body weight, white adipose tissue weight, and insulin resistance on a high-fat diet, indicating protection from diet-induced obesity and insulin resistance. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,988,792 (GRCm39)	S332P	probably benign	Het
Abcb4	T	C	5: 9,000,046 (GRCm39)	F1005L	probably benign	Het
Actr2	G	A	11: 20,044,367 (GRCm39)	R80W	probably damaging	Het
Adck1	T	C	12: 88,422,286 (GRCm39)	I299T	probably damaging	Het
Camk2g	C	T	14: 20,787,398 (GRCm39)	G500S	probably damaging	Het
Car15	A	T	16: 17,654,498 (GRCm39)	M146K	probably damaging	Het
Cyp4f39	A	G	17: 32,689,806 (GRCm39)	N84S	probably benign	Het
Dock8	G	T	19: 25,165,773 (GRCm39)	E1886*	probably null	Het
Kansl2	T	C	15: 98,426,734 (GRCm39)		probably benign	Het
Klc2	A	T	19: 5,161,541 (GRCm39)	V323E	probably damaging	Het
Lrrc7	A	G	3: 157,891,111 (GRCm39)	V352A	probably damaging	Het
Ltbp1	A	G	17: 75,458,316 (GRCm39)	Y299C	probably damaging	Het
Myh13	A	G	11: 67,252,154 (GRCm39)	T1421A	probably damaging	Het
Myl3	C	A	9: 110,595,557 (GRCm39)	T56K	possibly damaging	Het
Nod1	T	C	6: 54,921,931 (GRCm39)	Y129C	probably damaging	Het
Odad2	A	T	18: 7,181,817 (GRCm39)	L836M	probably damaging	Het
Otog	G	A	7: 45,945,304 (GRCm39)	S2187N	probably benign	Het
Pank4	G	A	4: 155,065,059 (GRCm39)	R786H	possibly damaging	Het
Sag	A	G	1: 87,772,748 (GRCm39)		probably null	Het
Scn2b	G	A	9: 45,036,842 (GRCm39)	V117M	probably damaging	Het
Sec16b	G	T	1: 157,392,125 (GRCm39)	A886S	probably benign	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Spns3	A	T	11: 72,390,179 (GRCm39)		probably null	Het
Styk1	T	C	6: 131,278,625 (GRCm39)	K350E	possibly damaging	Het
Tns3	G	A	11: 8,393,976 (GRCm39)	T1291I	probably damaging	Het
Xntrpc	A	G	7: 101,733,575 (GRCm39)	I175V	probably damaging	Het
Zfp106	G	A	2: 120,344,641 (GRCm39)	R1745C	probably damaging	Het

Other mutations in Lrrc8c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Lrrc8c	APN	5	105,755,076 (GRCm39)	missense	probably damaging	0.99
IGL00736:Lrrc8c	APN	5	105,754,980 (GRCm39)	missense	probably damaging	1.00
IGL02009:Lrrc8c	APN	5	105,755,257 (GRCm39)	missense	probably damaging	1.00
IGL02156:Lrrc8c	APN	5	105,755,359 (GRCm39)	missense	probably damaging	1.00
IGL02266:Lrrc8c	APN	5	105,756,114 (GRCm39)	missense	probably benign	0.30
IGL02268:Lrrc8c	APN	5	105,755,764 (GRCm39)	missense	probably damaging	1.00
IGL02487:Lrrc8c	APN	5	105,754,457 (GRCm39)	missense	probably benign
IGL02536:Lrrc8c	APN	5	105,755,038 (GRCm39)	missense	probably benign	0.00
IGL02672:Lrrc8c	APN	5	105,755,224 (GRCm39)	missense	possibly damaging	0.85
IGL02860:Lrrc8c	APN	5	105,727,481 (GRCm39)	splice site	probably benign
IGL03395:Lrrc8c	APN	5	105,754,495 (GRCm39)	missense	probably benign
Hand_grenade	UTSW	5	105,754,954 (GRCm39)	missense	probably damaging	1.00
Horseshoe	UTSW	5	105,755,488 (GRCm39)	missense	probably damaging	1.00
P0014:Lrrc8c	UTSW	5	105,755,110 (GRCm39)	missense	probably benign	0.06
PIT4504001:Lrrc8c	UTSW	5	105,756,403 (GRCm39)	missense	probably benign
PIT4651001:Lrrc8c	UTSW	5	105,756,189 (GRCm39)	missense	probably benign	0.04
R0196:Lrrc8c	UTSW	5	105,754,636 (GRCm39)	missense	probably benign	0.18
R0454:Lrrc8c	UTSW	5	105,754,965 (GRCm39)	missense	probably damaging	1.00
R0565:Lrrc8c	UTSW	5	105,754,894 (GRCm39)	missense	probably damaging	0.98
R0673:Lrrc8c	UTSW	5	105,755,544 (GRCm39)	missense	probably damaging	0.99
R0722:Lrrc8c	UTSW	5	105,727,414 (GRCm39)	missense	probably damaging	1.00
R0815:Lrrc8c	UTSW	5	105,756,400 (GRCm39)	missense	probably damaging	1.00
R1177:Lrrc8c	UTSW	5	105,754,702 (GRCm39)	missense	probably benign	0.40
R1411:Lrrc8c	UTSW	5	105,756,045 (GRCm39)	missense	probably damaging	0.96
R1486:Lrrc8c	UTSW	5	105,755,395 (GRCm39)	missense	probably damaging	1.00
R1551:Lrrc8c	UTSW	5	105,756,090 (GRCm39)	missense	probably damaging	1.00
R1662:Lrrc8c	UTSW	5	105,754,623 (GRCm39)	missense	probably benign	0.22
R1714:Lrrc8c	UTSW	5	105,755,157 (GRCm39)	missense	possibly damaging	0.93
R1770:Lrrc8c	UTSW	5	105,754,603 (GRCm39)	missense	probably damaging	1.00
R2104:Lrrc8c	UTSW	5	105,755,224 (GRCm39)	missense	possibly damaging	0.85
R2139:Lrrc8c	UTSW	5	105,754,558 (GRCm39)	missense	probably damaging	1.00
R4425:Lrrc8c	UTSW	5	105,755,755 (GRCm39)	missense	probably benign	0.22
R4670:Lrrc8c	UTSW	5	105,756,240 (GRCm39)	missense	probably benign
R4897:Lrrc8c	UTSW	5	105,755,955 (GRCm39)	missense	probably benign	0.01
R4968:Lrrc8c	UTSW	5	105,754,993 (GRCm39)	missense	probably damaging	1.00
R5114:Lrrc8c	UTSW	5	105,755,349 (GRCm39)	missense	probably damaging	1.00
R5580:Lrrc8c	UTSW	5	105,755,553 (GRCm39)	missense	probably benign	0.00
R5804:Lrrc8c	UTSW	5	105,727,423 (GRCm39)	missense	possibly damaging	0.88
R5918:Lrrc8c	UTSW	5	105,756,117 (GRCm39)	missense	possibly damaging	0.68
R6293:Lrrc8c	UTSW	5	105,754,612 (GRCm39)	missense	probably damaging	1.00
R6303:Lrrc8c	UTSW	5	105,756,475 (GRCm39)	missense	probably benign	0.31
R6304:Lrrc8c	UTSW	5	105,756,475 (GRCm39)	missense	probably benign	0.31
R7271:Lrrc8c	UTSW	5	105,755,853 (GRCm39)	missense	probably benign	0.02
R7341:Lrrc8c	UTSW	5	105,755,133 (GRCm39)	missense	probably damaging	1.00
R7380:Lrrc8c	UTSW	5	105,755,701 (GRCm39)	missense	possibly damaging	0.71
R7630:Lrrc8c	UTSW	5	105,755,568 (GRCm39)	missense	probably damaging	0.99
R7789:Lrrc8c	UTSW	5	105,755,066 (GRCm39)	missense	probably damaging	1.00
R8128:Lrrc8c	UTSW	5	105,755,488 (GRCm39)	missense	probably damaging	1.00
R8229:Lrrc8c	UTSW	5	105,754,402 (GRCm39)	missense	probably benign	0.00
R8247:Lrrc8c	UTSW	5	105,756,310 (GRCm39)	missense	probably damaging	1.00
R8248:Lrrc8c	UTSW	5	105,755,733 (GRCm39)	missense	probably benign
R8890:Lrrc8c	UTSW	5	105,754,954 (GRCm39)	missense	probably damaging	1.00
R9254:Lrrc8c	UTSW	5	105,756,356 (GRCm39)	nonsense	probably null
R9379:Lrrc8c	UTSW	5	105,756,356 (GRCm39)	nonsense	probably null
R9416:Lrrc8c	UTSW	5	105,756,163 (GRCm39)	missense	possibly damaging	0.95

Posted On

2012-12-06