Mutagenetix > Incidental Mutation

Incidental Mutation 'R1540:Lrrc8e'

171663

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

039579-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R1540 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4276827-4287470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4284990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 405 (K405R)

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 benign
Transcript: ENSMUST00000053035
AA Change: K405R

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052055
Gene: ENSMUSG00000046589
AA Change: K405R

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

0.3231

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

96% (72/75)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,574,384 (GRCm39)	C767R	probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Ap3d1	A	T	10: 80,551,775 (GRCm39)	I644N	probably benign	Het
Asb16	A	G	11: 102,163,402 (GRCm39)	I131V	probably benign	Het
Atp6v0a2	C	A	5: 124,784,638 (GRCm39)	A307D	probably damaging	Het
C1qtnf1	C	T	11: 118,338,749 (GRCm39)	H140Y	probably benign	Het
Cacna1g	T	A	11: 94,347,865 (GRCm39)	D741V	probably damaging	Het
Caprin2	T	A	6: 148,777,969 (GRCm39)	T211S	probably benign	Het
Carmil1	T	C	13: 24,283,037 (GRCm39)	E89G	possibly damaging	Het
Casz1	T	A	4: 149,027,357 (GRCm39)		probably benign	Het
Catsperb	G	A	12: 101,378,589 (GRCm39)	R30Q	probably benign	Het
Ccdc102a	A	T	8: 95,634,341 (GRCm39)		probably null	Het
Ccdc110	G	T	8: 46,395,362 (GRCm39)	E418*	probably null	Het
Ccdc90b	C	T	7: 92,231,024 (GRCm39)	A210V	probably benign	Het
Cdadc1	G	T	14: 59,823,532 (GRCm39)	A320E	probably damaging	Het
Cdadc1	T	A	14: 59,823,541 (GRCm39)	Q317L	probably damaging	Het
Cep170	C	A	1: 176,567,498 (GRCm39)	W1396L	probably damaging	Het
Col4a6	T	C	X: 140,010,854 (GRCm39)	T129A	probably damaging	Het
Ctcfl	C	T	2: 172,954,141 (GRCm39)	D319N	probably benign	Het
Dclk1	T	C	3: 55,385,244 (GRCm39)	S45P	probably damaging	Het
Efcab3	T	C	11: 104,999,726 (GRCm39)	I5581T	probably benign	Het
Evi2	T	C	11: 79,406,412 (GRCm39)	I388V	probably benign	Het
Fbxl5	A	T	5: 43,915,978 (GRCm39)	V435E	possibly damaging	Het
Fig4	A	T	10: 41,064,582 (GRCm39)	M887K	possibly damaging	Het
Glt8d1	G	A	14: 30,733,549 (GRCm39)	V345I	probably benign	Het
Gm5709	T	C	3: 59,526,073 (GRCm39)		noncoding transcript	Het
Hsp90b1	A	G	10: 86,529,906 (GRCm39)	F264L	probably damaging	Het
Id3	A	G	4: 135,871,250 (GRCm39)	S21G	possibly damaging	Het
Ighe	T	A	12: 113,235,066 (GRCm39)	N365Y	unknown	Het
Il17rd	T	G	14: 26,821,915 (GRCm39)	M403R	probably damaging	Het
Ints10	A	G	8: 69,249,365 (GRCm39)		probably benign	Het
Kcnc4	T	A	3: 107,352,743 (GRCm39)		probably null	Het
Kctd19	A	G	8: 106,114,511 (GRCm39)	S517P	probably damaging	Het
Lama5	A	G	2: 179,821,944 (GRCm39)	F2964L	probably benign	Het
Lin54	A	T	5: 100,628,109 (GRCm39)	N31K	probably damaging	Het
Lyst	T	A	13: 13,809,686 (GRCm39)	M452K	possibly damaging	Het
Mroh7	A	G	4: 106,560,273 (GRCm39)	L677P	probably benign	Het
Mrps27	T	A	13: 99,541,558 (GRCm39)	F221I	probably benign	Het
Nhlrc1	C	T	13: 47,167,820 (GRCm39)	V146M	probably damaging	Het
Nlrp9b	T	A	7: 19,782,772 (GRCm39)	C895*	probably null	Het
Nod1	T	C	6: 54,920,960 (GRCm39)	T453A	probably benign	Het
Nodal	T	C	10: 61,258,764 (GRCm39)	V67A	probably damaging	Het
Ntsr1	T	C	2: 180,184,440 (GRCm39)	L381P	probably damaging	Het
Or13c25	T	C	4: 52,910,996 (GRCm39)	D266G	probably benign	Het
Or2b2b	T	A	13: 21,858,700 (GRCm39)	Q138L	probably benign	Het
Or9e1	T	A	11: 58,732,477 (GRCm39)	M179K	probably benign	Het
P2ry14	T	A	3: 59,022,686 (GRCm39)	K267M	probably benign	Het
Pcdh1	T	C	18: 38,322,779 (GRCm39)	N1018S	probably benign	Het
Pkn3	G	A	2: 29,974,703 (GRCm39)	V406I	probably damaging	Het
Prkcb	C	T	7: 122,226,916 (GRCm39)	T634I	probably damaging	Het
Psme2b	T	A	11: 48,836,209 (GRCm39)		probably null	Het
Ptgfrn	A	G	3: 100,967,970 (GRCm39)	I541T	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgapb	T	C	2: 158,307,746 (GRCm39)	V684A	probably benign	Het
Rbbp5	C	T	1: 132,422,020 (GRCm39)	R307*	probably null	Het
Rcor1	T	A	12: 111,070,037 (GRCm39)		probably benign	Het
Rlbp1	C	T	7: 79,029,808 (GRCm39)	A142T	probably damaging	Het
Rps6ka2	A	G	17: 7,560,305 (GRCm39)	E581G	probably null	Het
Sars1	A	T	3: 108,340,461 (GRCm39)	V155E	probably benign	Het
Sec31a	G	C	5: 100,523,178 (GRCm39)	P569A	probably damaging	Het
Selenof	A	T	3: 144,300,685 (GRCm39)	K111*	probably null	Het
Serpinb7	C	T	1: 107,355,998 (GRCm39)	A7V	possibly damaging	Het
Smc4	T	A	3: 68,924,105 (GRCm39)	Y298N	probably damaging	Het
Snrpa1	T	A	7: 65,720,409 (GRCm39)	I204N	probably damaging	Het
Spry4	T	G	18: 38,734,740 (GRCm39)		probably benign	Het
Tcea2	A	G	2: 181,328,751 (GRCm39)	N261S	possibly damaging	Het
Tmem59l	A	G	8: 70,937,804 (GRCm39)	F192S	probably benign	Het
Tnr	T	A	1: 159,677,675 (GRCm39)	I20N	probably damaging	Het
Ttll5	C	T	12: 85,938,982 (GRCm39)	Q427*	probably null	Het
Vps45	C	T	3: 95,955,658 (GRCm39)	A111T	probably damaging	Het
Zfp395	T	C	14: 65,630,523 (GRCm39)	S358P	probably benign	Het
Zfp438	A	G	18: 5,210,740 (GRCm39)	V766A	probably benign	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
R1677:Lrrc8e	UTSW	8	4,284,190 (GRCm39)	missense	probably damaging	1.00
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'- ACACTCTACTGGCTCTTCCATAGGC -3'
(R):5'- CACAGATCACCTTCAGGCGATCTC -3'

Sequencing Primer
(F):5'- TCTTCCATAGGCCCCTAAAAGAG -3'
(R):5'- TTCAGGCGATCTCGCAGG -3'

Posted On

2014-04-13