Mutagenetix > Incidental Mutation

Incidental Mutation 'R1677:Lrrc8e'

188187

Institutional Source

Beutler Lab

Gene Symbol

Lrrc8e

Ensembl Gene

ENSMUSG00000046589

Gene Name

leucine rich repeat containing 8 family, member E

Synonyms

1810049O03Rik, C87354

MMRRC Submission

039713-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R1677 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4276827-4287470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4284190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 138 (K138N)

Ref Sequence

ENSEMBL: ENSMUSP00000052055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003027] [ENSMUST00000053035] [ENSMUST00000062686] [ENSMUST00000110998] [ENSMUST00000110999] [ENSMUST00000145165] [ENSMUST00000207770]

AlphaFold

Q66JT1

Predicted Effect

probably benign
Transcript: ENSMUST00000003027

SMART Domains

Protein: ENSMUSP00000003027
Gene: ENSMUSG00000002948

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	69	89	N/A	INTRINSIC
S_TKc	136	396	8.43e-72	SMART
low complexity region	435	455	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000053035
AA Change: K138N

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

SMART Domains

Protein: ENSMUSP00000052055
Gene: ENSMUSG00000046589
AA Change: K138N

Domain	Start	End	E-Value	Type
Pfam:Pannexin_like	1	330	3.8e-143	PFAM
low complexity region	504	516	N/A	INTRINSIC
LRR	603	627	3.97e0	SMART
LRR	628	650	2.33e2	SMART
LRR_TYP	651	674	6.08e-5	SMART
LRR	676	696	6.78e1	SMART
LRR_TYP	697	720	2.43e-4	SMART
LRR	721	742	1.09e2	SMART
LRR_TYP	743	766	9.44e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000062686

SMART Domains

Protein: ENSMUSP00000054512
Gene: ENSMUSG00000002948

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	69	89	N/A	INTRINSIC
S_TKc	136	396	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110998

SMART Domains

Protein: ENSMUSP00000106626
Gene: ENSMUSG00000002948

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	36	47	N/A	INTRINSIC
low complexity region	53	73	N/A	INTRINSIC
S_TKc	120	380	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110999

SMART Domains

Protein: ENSMUSP00000106627
Gene: ENSMUSG00000002948

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	36	47	N/A	INTRINSIC
low complexity region	53	73	N/A	INTRINSIC
S_TKc	120	380	8.43e-72	SMART
low complexity region	419	439	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145165

SMART Domains

Protein: ENSMUSP00000117418
Gene: ENSMUSG00000109061

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	69	89	N/A	INTRINSIC
S_TKc	136	396	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207770

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (95/95)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,357 (GRCm39)	M92K	probably benign	Het
4931406C07Rik	T	C	9: 15,212,660 (GRCm39)		probably null	Het
A430005L14Rik	G	A	4: 154,045,357 (GRCm39)	V129M	probably damaging	Het
Actg2	T	C	6: 83,499,801 (GRCm39)	T150A	possibly damaging	Het
Actn1	A	T	12: 80,306,806 (GRCm39)	D20E	probably benign	Het
Alcam	C	T	16: 52,091,136 (GRCm39)	E461K	probably damaging	Het
Anapc1	G	A	2: 128,518,128 (GRCm39)	P242L	probably benign	Het
Ankrd49	A	T	9: 14,692,674 (GRCm39)	D163E	probably benign	Het
Atp8b5	G	A	4: 43,372,903 (GRCm39)	R1149Q	possibly damaging	Het
Cacnb3	G	T	15: 98,540,455 (GRCm39)	V328F	probably damaging	Het
Camk4	T	C	18: 33,309,275 (GRCm39)	I226T	probably damaging	Het
Ccdc148	T	C	2: 58,892,176 (GRCm39)	D172G	probably damaging	Het
Cdh12	A	G	15: 21,520,491 (GRCm39)	I319V	probably damaging	Het
Cenpc1	T	C	5: 86,209,857 (GRCm39)		probably benign	Het
Cfap69	A	C	5: 5,632,457 (GRCm39)	N15K	probably damaging	Het
Ckap2l	A	C	2: 129,127,087 (GRCm39)	S364A	possibly damaging	Het
Clic6	G	A	16: 92,324,972 (GRCm39)	G36R	probably damaging	Het
Col6a3	T	C	1: 90,749,583 (GRCm39)	Y417C	probably benign	Het
Cstf3	T	A	2: 104,494,623 (GRCm39)		probably benign	Het
Cyp4f39	G	A	17: 32,711,304 (GRCm39)	A484T	probably benign	Het
Dnah3	T	C	7: 119,527,963 (GRCm39)	N3829D	probably damaging	Het
Dntt	C	A	19: 41,017,923 (GRCm39)	P16T	probably benign	Het
Dym	T	A	18: 75,258,583 (GRCm39)	I447N	probably damaging	Het
Elmo1	T	C	13: 20,773,841 (GRCm39)	V617A	probably benign	Het
Elovl7	G	A	13: 108,419,160 (GRCm39)	G264D	probably damaging	Het
Epha7	T	A	4: 28,947,571 (GRCm39)	Y610*	probably null	Het
Fn1	T	C	1: 71,636,814 (GRCm39)	I178V	probably benign	Het
Fndc9	T	C	11: 46,129,152 (GRCm39)	Y224H	probably benign	Het
Gad1	T	C	2: 70,404,521 (GRCm39)	V137A	probably damaging	Het
Gapvd1	A	G	2: 34,590,773 (GRCm39)		probably null	Het
Gbp11	C	T	5: 105,475,277 (GRCm39)	C357Y	probably damaging	Het
Gcc1	G	A	6: 28,419,163 (GRCm39)	A390V	probably benign	Het
Gm6811	A	G	17: 21,314,185 (GRCm39)		noncoding transcript	Het
Htt	A	T	5: 34,985,918 (GRCm39)	D1063V	probably damaging	Het
Igfn1	C	T	1: 135,898,839 (GRCm39)	A576T	probably damaging	Het
Il12rb2	T	C	6: 67,280,485 (GRCm39)	Y240C	probably damaging	Het
Itga3	T	C	11: 94,946,585 (GRCm39)	D747G	probably damaging	Het
Kcnip2	A	C	19: 45,782,979 (GRCm39)	D134E	probably damaging	Het
Kif2b	C	A	11: 91,466,798 (GRCm39)	R495I	probably damaging	Het
Lef1	T	C	3: 130,993,938 (GRCm39)		probably benign	Het
Lias	C	T	5: 65,548,981 (GRCm39)	R4C	probably damaging	Het
Lpcat2	T	C	8: 93,591,560 (GRCm39)	V68A	probably benign	Het
Lrrc37	A	T	11: 103,505,768 (GRCm39)	S2067T	probably benign	Het
Map4k5	G	A	12: 69,852,082 (GRCm39)	H767Y	probably benign	Het
Mga	C	A	2: 119,791,333 (GRCm39)	T2406K	possibly damaging	Het
Mtx1	A	T	3: 89,116,648 (GRCm39)	S418T	probably benign	Het
Myh7	C	T	14: 55,224,973 (GRCm39)	M531I	probably benign	Het
Myorg	C	T	4: 41,497,947 (GRCm39)	R561H	probably benign	Het
Ncaph2	T	A	15: 89,255,427 (GRCm39)	M555K	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Ncoa6	T	C	2: 155,244,584 (GRCm39)		probably benign	Het
Nrp2	A	G	1: 62,822,479 (GRCm39)	S691G	probably benign	Het
Odad2	T	C	18: 7,222,554 (GRCm39)	T572A	probably benign	Het
Odf2l	A	T	3: 144,845,543 (GRCm39)		probably null	Het
Or5aq6	T	A	2: 86,923,081 (GRCm39)	H220L	probably benign	Het
Pcdh20	A	G	14: 88,705,410 (GRCm39)	V630A	probably damaging	Het
Pebp4	T	C	14: 70,285,923 (GRCm39)		probably null	Het
Ppfia3	T	A	7: 45,006,090 (GRCm39)	M301L	probably benign	Het
Ppp1r21	C	A	17: 88,858,097 (GRCm39)	Q203K	probably benign	Het
Prr23a1	T	C	9: 98,725,406 (GRCm39)	V256A	probably benign	Het
Rbfox1	A	G	16: 7,110,091 (GRCm39)	R150G	possibly damaging	Het
Rnps1-ps	A	T	6: 7,982,943 (GRCm39)		noncoding transcript	Het
Robo3	T	C	9: 37,329,005 (GRCm39)	R1238G	possibly damaging	Het
Rp9	T	G	9: 22,365,097 (GRCm39)	Q35P	probably damaging	Het
Rsrc1	C	A	3: 67,262,808 (GRCm39)	A254E	probably damaging	Het
Shtn1	T	A	19: 58,998,222 (GRCm39)	K390N	probably damaging	Het
Sidt2	C	T	9: 45,864,517 (GRCm39)	V71I	probably benign	Het
Sirt7	A	G	11: 120,515,365 (GRCm39)	V97A	possibly damaging	Het
Slc14a2	A	G	18: 78,206,419 (GRCm39)	S466P	probably benign	Het
Slc2a10	T	A	2: 165,357,361 (GRCm39)	D340E	probably benign	Het
Slc36a2	A	C	11: 55,075,735 (GRCm39)	N17K	probably benign	Het
Slc4a10	A	C	2: 62,155,071 (GRCm39)	N1086T	probably benign	Het
Sptb	T	C	12: 76,676,423 (GRCm39)	D177G	probably damaging	Het
Srpk2	A	T	5: 23,730,748 (GRCm39)		probably null	Het
Sucla2	T	G	14: 73,830,121 (GRCm39)	V386G	probably damaging	Het
Susd1	G	T	4: 59,424,089 (GRCm39)	N45K	possibly damaging	Het
Tbxas1	T	C	6: 38,994,822 (GRCm39)		probably benign	Het
Topors	C	T	4: 40,261,776 (GRCm39)	E503K	probably damaging	Het
Trpv5	T	C	6: 41,634,731 (GRCm39)	R533G	probably benign	Het
Tshr	A	G	12: 91,504,115 (GRCm39)	H351R	possibly damaging	Het
Ube2f	G	A	1: 91,203,037 (GRCm39)	V94M	probably damaging	Het
Ugdh	A	G	5: 65,580,521 (GRCm39)	S216P	probably damaging	Het
Unc45b	T	A	11: 82,802,531 (GRCm39)		probably null	Het
Vmn1r226	A	G	17: 20,908,335 (GRCm39)	E189G	probably damaging	Het
Xrcc6	T	G	15: 81,913,900 (GRCm39)	D75E	probably benign	Het
Ypel1	A	G	16: 16,921,474 (GRCm39)	L70P	probably damaging	Het
Zcwpw1	A	T	5: 137,795,022 (GRCm39)	R73W	probably damaging	Het
Zfp219	T	C	14: 52,246,512 (GRCm39)	E160G	probably damaging	Het
Zfp804b	G	T	5: 7,229,533 (GRCm39)		probably benign	Het
Zscan22	C	A	7: 12,640,730 (GRCm39)	P325T	probably damaging	Het

Other mutations in Lrrc8e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Lrrc8e	APN	8	4,285,921 (GRCm39)	missense	probably benign
IGL00943:Lrrc8e	APN	8	4,285,658 (GRCm39)	missense	probably damaging	1.00
IGL00979:Lrrc8e	APN	8	4,285,080 (GRCm39)	missense	probably damaging	1.00
IGL01138:Lrrc8e	APN	8	4,284,084 (GRCm39)	missense	probably damaging	1.00
IGL01458:Lrrc8e	APN	8	4,286,141 (GRCm39)	missense	probably damaging	1.00
IGL02524:Lrrc8e	APN	8	4,285,392 (GRCm39)	missense	probably damaging	1.00
IGL02831:Lrrc8e	APN	8	4,285,429 (GRCm39)	missense	probably damaging	0.96
IGL03135:Lrrc8e	APN	8	4,285,776 (GRCm39)	missense	probably damaging	1.00
R0242:Lrrc8e	UTSW	8	4,285,401 (GRCm39)	missense	probably benign	0.00
R0242:Lrrc8e	UTSW	8	4,285,401 (GRCm39)	missense	probably benign	0.00
R0312:Lrrc8e	UTSW	8	4,285,733 (GRCm39)	missense	probably benign
R0601:Lrrc8e	UTSW	8	4,285,239 (GRCm39)	splice site	probably null
R1167:Lrrc8e	UTSW	8	4,285,337 (GRCm39)	missense	probably benign
R1405:Lrrc8e	UTSW	8	4,281,754 (GRCm39)	missense	probably damaging	1.00
R1405:Lrrc8e	UTSW	8	4,281,754 (GRCm39)	missense	probably damaging	1.00
R1540:Lrrc8e	UTSW	8	4,284,990 (GRCm39)	missense	probably benign	0.41
R1916:Lrrc8e	UTSW	8	4,285,202 (GRCm39)	missense	probably benign	0.01
R2185:Lrrc8e	UTSW	8	4,284,986 (GRCm39)	nonsense	probably null
R2290:Lrrc8e	UTSW	8	4,281,770 (GRCm39)	missense	probably damaging	1.00
R3424:Lrrc8e	UTSW	8	4,284,611 (GRCm39)	missense	probably damaging	1.00
R4628:Lrrc8e	UTSW	8	4,283,981 (GRCm39)	missense	probably damaging	1.00
R4996:Lrrc8e	UTSW	8	4,285,166 (GRCm39)	missense	probably damaging	1.00
R5169:Lrrc8e	UTSW	8	4,284,329 (GRCm39)	missense	probably benign
R5516:Lrrc8e	UTSW	8	4,285,818 (GRCm39)	missense	probably damaging	1.00
R5870:Lrrc8e	UTSW	8	4,285,725 (GRCm39)	missense	possibly damaging	0.60
R6687:Lrrc8e	UTSW	8	4,284,798 (GRCm39)	missense	probably damaging	1.00
R6700:Lrrc8e	UTSW	8	4,286,034 (GRCm39)	missense	probably damaging	1.00
R7344:Lrrc8e	UTSW	8	4,284,815 (GRCm39)	missense	probably damaging	1.00
R7350:Lrrc8e	UTSW	8	4,285,626 (GRCm39)	missense	probably benign	0.14
R7555:Lrrc8e	UTSW	8	4,284,363 (GRCm39)	missense	probably benign	0.05
R7691:Lrrc8e	UTSW	8	4,284,534 (GRCm39)	missense	probably damaging	1.00
R8112:Lrrc8e	UTSW	8	4,285,575 (GRCm39)	missense	probably benign	0.14
R8184:Lrrc8e	UTSW	8	4,285,140 (GRCm39)	missense	probably damaging	0.99
R8328:Lrrc8e	UTSW	8	4,285,641 (GRCm39)	missense	probably damaging	1.00
R8355:Lrrc8e	UTSW	8	4,284,018 (GRCm39)	missense	probably benign	0.02
R8487:Lrrc8e	UTSW	8	4,284,218 (GRCm39)	missense	probably damaging	1.00
R8810:Lrrc8e	UTSW	8	4,285,070 (GRCm39)	missense	probably benign	0.03
R8971:Lrrc8e	UTSW	8	4,284,141 (GRCm39)	missense	probably damaging	1.00
R9088:Lrrc8e	UTSW	8	4,284,410 (GRCm39)	missense	probably damaging	0.96
R9150:Lrrc8e	UTSW	8	4,286,030 (GRCm39)	missense	probably benign	0.06
R9225:Lrrc8e	UTSW	8	4,284,561 (GRCm39)	missense	probably damaging	1.00
R9255:Lrrc8e	UTSW	8	4,284,504 (GRCm39)	missense	probably damaging	1.00
R9442:Lrrc8e	UTSW	8	4,283,964 (GRCm39)	missense	probably benign	0.01
R9463:Lrrc8e	UTSW	8	4,285,185 (GRCm39)	missense	probably damaging	0.99
R9475:Lrrc8e	UTSW	8	4,285,346 (GRCm39)	missense	probably benign
Z1176:Lrrc8e	UTSW	8	4,284,822 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CAGCAGCTTTTGCCTCAAGGAATC -3'
(R):5'- ACCTTTTCGGGCTCAATGAGCAC -3'

Sequencing Primer
(F):5'- TGCCTCAAGGAATCTCTGAGC -3'
(R):5'- GGGCTCAATGAGCACTTTCTC -3'

Posted On

2014-05-09