Mutagenetix > Incidental Mutation

Incidental Mutation 'R8971:Lrrc8e'

683099

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

068805-MU

Accession Numbers

Essential gene?

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

Stock #

R8971 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4276827-4287470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4284141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 122 (V122A)

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: V122A

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

SMART Domains

Protein: ENSMUSP00000052055
Gene: ENSMUSG00000046589
AA Change: V122A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230112D13Rik	T	C	14: 34,236,383 (GRCm39)	H44R	unknown	Het
Acp6	C	T	3: 97,078,961 (GRCm39)	H254Y	probably damaging	Het
Acvrl1	A	G	15: 101,033,404 (GRCm39)	N97S	possibly damaging	Het
Afm	T	A	5: 90,696,675 (GRCm39)	V455E	probably damaging	Het
Ankrd44	G	T	1: 54,692,952 (GRCm39)	D927E	probably benign	Het
Ap2a2	T	C	7: 141,191,258 (GRCm39)	V275A	probably benign	Het
Arfgef2	A	T	2: 166,701,221 (GRCm39)	Q673L	probably damaging	Het
Atp6v0a2	T	C	5: 124,797,061 (GRCm39)	F814L	probably damaging	Het
Axdnd1	G	A	1: 156,219,516 (GRCm39)	A193V		Het
Bicra	T	A	7: 15,721,481 (GRCm39)	I679L	probably benign	Het
Ccm2l	G	A	2: 152,909,756 (GRCm39)	R36H	probably damaging	Het
Cd160	T	A	3: 96,713,102 (GRCm39)	D54V	probably damaging	Het
Cela3a	C	T	4: 137,133,222 (GRCm39)	G50D	probably benign	Het
Cep152	T	A	2: 125,421,770 (GRCm39)	R987*	probably null	Het
Cnnm2	T	C	19: 46,845,362 (GRCm39)	V618A	probably benign	Het
Crim1	G	A	17: 78,653,409 (GRCm39)	R593Q	possibly damaging	Het
Ctsc	A	G	7: 87,959,024 (GRCm39)	S435G	probably benign	Het
Dcbld1	G	T	10: 52,195,958 (GRCm39)	A460S	probably benign	Het
Dcbld2	A	G	16: 58,276,715 (GRCm39)	E502G	probably benign	Het
Dhx30	A	T	9: 109,913,513 (GRCm39)	L1207*	probably null	Het
Dlx2	A	T	2: 71,376,716 (GRCm39)	S7R	possibly damaging	Het
Dmwd	T	A	7: 18,814,973 (GRCm39)	I541N	probably damaging	Het
Dmxl1	T	G	18: 49,997,575 (GRCm39)	L588V	possibly damaging	Het
Dmxl1	C	T	18: 50,026,741 (GRCm39)	P1950S	probably damaging	Het
Dnhd1	T	A	7: 105,358,528 (GRCm39)	L3339*	probably null	Het
Elovl1	C	A	4: 118,288,709 (GRCm39)	P160Q	probably damaging	Het
Epg5	T	A	18: 78,022,434 (GRCm39)	L1059Q	probably damaging	Het
Fam149b	C	T	14: 20,402,777 (GRCm39)	S53F	probably benign	Het
Fat1	T	A	8: 45,495,331 (GRCm39)	C4140S	probably damaging	Het
Gria2	C	T	3: 80,615,200 (GRCm39)	V427I	probably damaging	Het
H2al2a	C	A	2: 18,001,537 (GRCm39)	A50S	probably damaging	Het
Hspbp1	T	C	7: 4,684,858 (GRCm39)	M132V	possibly damaging	Het
Igsf9	C	T	1: 172,312,033 (GRCm39)		probably benign	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Katnb1	G	A	8: 95,822,987 (GRCm39)	R394Q	probably damaging	Het
Kif1b	A	T	4: 149,332,273 (GRCm39)	D553E	probably damaging	Het
Kif3a	T	A	11: 53,474,189 (GRCm39)	L251Q	probably damaging	Het
Klb	T	A	5: 65,533,026 (GRCm39)	I445K	probably damaging	Het
Klhl29	T	A	12: 5,190,710 (GRCm39)		probably null	Het
Lipf	A	G	19: 33,942,273 (GRCm39)	K68E	probably benign	Het
Lnx2	T	A	5: 146,970,236 (GRCm39)	I169L	probably benign	Het
Lrba	A	C	3: 86,522,388 (GRCm39)	I2223L	probably benign	Het
Lrp1	C	T	10: 127,391,896 (GRCm39)	D2890N	possibly damaging	Het
Lrp1b	T	C	2: 41,325,640 (GRCm39)	T926A		Het
Lrrc37a	T	A	11: 103,391,490 (GRCm39)	I1312F	probably benign	Het
Lrrc71	T	C	3: 87,647,153 (GRCm39)	H477R	possibly damaging	Het
Lsm14b	T	C	2: 179,667,107 (GRCm39)		probably null	Het
Magel2	A	C	7: 62,029,999 (GRCm39)	I968L	unknown	Het
Mapkbp1	T	C	2: 119,850,050 (GRCm39)	V771A	probably benign	Het
Mtmr4	T	C	11: 87,493,626 (GRCm39)	S295P	probably benign	Het
Nanos3	T	A	8: 84,902,815 (GRCm39)	T116S	probably benign	Het
Nectin3	T	C	16: 46,269,265 (GRCm39)	D379G	probably benign	Het
Nelfa	T	C	5: 34,093,539 (GRCm39)	H14R	possibly damaging	Het
Nnt	A	G	13: 119,502,967 (GRCm39)	W593R	unknown	Het
Nudt2	A	T	4: 41,477,575 (GRCm39)	M19L	probably benign	Het
Or4c115	T	A	2: 88,927,891 (GRCm39)	K127*	probably null	Het
Or52p1	A	T	7: 104,267,467 (GRCm39)	T194S	probably damaging	Het
Or5m13b	T	C	2: 85,754,328 (GRCm39)	S239P	probably damaging	Het
Or5w22	T	A	2: 87,362,580 (GRCm39)	C68S	probably benign	Het
Or6f1	T	A	7: 85,970,369 (GRCm39)	I264F	possibly damaging	Het
Palld	A	T	8: 61,969,735 (GRCm39)	D1196E	unknown	Het
Parl	A	G	16: 20,116,909 (GRCm39)	L96P	probably damaging	Het
Pip4k2a	T	C	2: 18,852,367 (GRCm39)	D305G	probably benign	Het
Pkhd1l1	T	C	15: 44,392,915 (GRCm39)	V1750A	possibly damaging	Het
Prkdc	A	G	16: 15,493,229 (GRCm39)	E712G	probably null	Het
Rasgrf2	T	C	13: 92,158,225 (GRCm39)	E532G	possibly damaging	Het
Rbp3	T	A	14: 33,677,792 (GRCm39)	L580Q	probably damaging	Het
Ribc2	G	T	15: 85,016,337 (GRCm39)		probably benign	Het
Rmnd5b	T	C	11: 51,515,322 (GRCm39)	S315G	probably benign	Het
Rp1l1	T	A	14: 64,259,445 (GRCm39)	V29E	probably damaging	Het
Sclt1	T	C	3: 41,681,541 (GRCm39)	T93A	probably benign	Het
Shroom1	T	A	11: 53,355,994 (GRCm39)	L348H	probably damaging	Het
Slc13a1	T	C	6: 24,090,785 (GRCm39)	K545E	probably benign	Het
Slc20a2	C	T	8: 23,030,396 (GRCm39)	P151S	probably damaging	Het
Slc22a4	T	C	11: 53,879,718 (GRCm39)	Y447C	probably damaging	Het
Slu7	C	A	11: 43,333,480 (GRCm39)	Q367K	probably benign	Het
Spen	T	C	4: 141,201,889 (GRCm39)	N2246S	possibly damaging	Het
Tac4	T	G	11: 95,156,045 (GRCm39)	I42S	possibly damaging	Het
Tmem87a	A	G	2: 120,190,541 (GRCm39)	V530A		Het
Tnrc6c	T	C	11: 117,640,089 (GRCm39)	I1208T	possibly damaging	Het
Vmn1r230	C	T	17: 21,067,321 (GRCm39)	T170I	possibly damaging	Het
Vps29	A	G	5: 122,498,212 (GRCm39)	D51G	probably benign	Het
Washc2	T	C	6: 116,231,399 (GRCm39)	L874P	probably damaging	Het
Wdr5b	T	C	16: 35,861,926 (GRCm39)	L15P	probably benign	Het
Zscan20	T	A	4: 128,479,847 (GRCm39)	Q881H	probably damaging	Het
Zscan20	T	G	4: 128,479,848 (GRCm39)	Q881P	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
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
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'- TTGCCTAGCCACGAATCTC -3'
(R):5'- TGGTTACCGTGGTCACCATG -3'

Sequencing Primer
(F):5'- CGAATCTCGTGAGAACATATCGG -3'
(R):5'- TGGCCCGTCCAGAAGCTG -3'

Posted On

2021-10-11