Mutagenetix > Incidental Mutation

Incidental Mutation 'R0225:Lrch3'

33881

Institutional Source

Beutler Lab

Gene Symbol

Lrch3

Ensembl Gene

ENSMUSG00000022801

Gene Name

leucine-rich repeats and calponin homology (CH) domain containing 3

Synonyms

2210409B11Rik, LOC385628

MMRRC Submission

038470-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R0225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32914100-33015647 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 32961754 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023491] [ENSMUST00000135193] [ENSMUST00000164486] [ENSMUST00000165616] [ENSMUST00000170201] [ENSMUST00000170899]

AlphaFold

Q8BVU0

Predicted Effect

probably benign
Transcript: ENSMUST00000023491

SMART Domains

Protein: ENSMUSP00000023491
Gene: ENSMUSG00000022801

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC
LRR	104	126	2.54e1	SMART
LRR	127	150	2.86e-1	SMART
LRR	172	194	4.44e0	SMART
LRR	195	218	4.33e1	SMART
LRR	240	263	2.76e1	SMART
low complexity region	482	493	N/A	INTRINSIC
low complexity region	539	554	N/A	INTRINSIC
CH	651	754	9.24e-15	SMART
low complexity region	759	774	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133399

Predicted Effect

probably benign
Transcript: ENSMUST00000135193

SMART Domains

Protein: ENSMUSP00000130708
Gene: ENSMUSG00000022801

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC
LRR	104	126	2.54e1	SMART
LRR	127	150	2.86e-1	SMART
LRR	172	194	4.44e0	SMART
LRR	195	218	4.33e1	SMART
LRR	240	263	2.76e1	SMART
low complexity region	482	493	N/A	INTRINSIC
low complexity region	539	554	N/A	INTRINSIC
CH	651	755	6.79e-13	SMART
transmembrane domain	771	793	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156928

Predicted Effect

probably benign
Transcript: ENSMUST00000164486

SMART Domains

Protein: ENSMUSP00000131416
Gene: ENSMUSG00000022801

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165616

SMART Domains

Protein: ENSMUSP00000130009
Gene: ENSMUSG00000022801

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC
Blast:LRR	89	113	1e-6	BLAST
Blast:LRR	114	137	3e-7	BLAST
low complexity region	328	339	N/A	INTRINSIC
low complexity region	385	400	N/A	INTRINSIC
CH	497	600	9.24e-15	SMART
low complexity region	605	620	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170201

SMART Domains

Protein: ENSMUSP00000126964
Gene: ENSMUSG00000022801

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC
LRR	104	126	2.54e1	SMART
LRR	127	150	2.86e-1	SMART
LRR	172	194	4.44e0	SMART
LRR	195	218	4.33e1	SMART
LRR	240	263	2.76e1	SMART
low complexity region	482	493	N/A	INTRINSIC
low complexity region	539	554	N/A	INTRINSIC
CH	615	718	9.24e-15	SMART
low complexity region	723	738	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170899

SMART Domains

Protein: ENSMUSP00000127547
Gene: ENSMUSG00000022801

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC
LRR	104	126	2.54e1	SMART
LRR	127	150	2.86e-1	SMART
LRR	172	194	4.44e0	SMART
LRR	195	218	4.33e1	SMART
LRR	240	263	2.76e1	SMART
low complexity region	489	504	N/A	INTRINSIC
CH	565	668	9.24e-15	SMART
low complexity region	673	688	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	G	A	18: 38,261,264	V505I	probably benign	Het
4931417E11Rik	A	G	6: 73,469,419	L49P	possibly damaging	Het
Abca16	T	A	7: 120,540,155	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,874,855	R105Q	probably damaging	Het
Arhgap23	G	T	11: 97,444,328	V70L	probably benign	Het
AW549877	T	C	15: 3,986,294	K263E	probably damaging	Het
Bicd1	T	C	6: 149,512,950	I387T	probably benign	Het
Cd59b	G	A	2: 104,078,941		probably null	Het
Chn2	T	C	6: 54,290,451		probably benign	Het
Col18a1	T	C	10: 77,088,914	S14G	possibly damaging	Het
Col5a2	A	G	1: 45,407,035	I461T	probably benign	Het
Dnlz	T	C	2: 26,351,368	N116S	probably damaging	Het
Esyt2	A	G	12: 116,367,710	N736S	probably damaging	Het
F11	T	C	8: 45,249,077	T267A	probably benign	Het
Fam234b	T	G	6: 135,217,074	S242A	possibly damaging	Het
Gadd45b	A	G	10: 80,930,347	N11S	probably benign	Het
Garnl3	T	C	2: 33,006,804	T608A	possibly damaging	Het
Gata3	T	C	2: 9,874,809	T119A	probably benign	Het
Gm10647	A	G	9: 66,798,495		probably benign	Het
Gm10936	G	A	10: 117,248,130		noncoding transcript	Het
Gzmd	A	G	14: 56,129,704	W244R	probably damaging	Het
Hdac2	T	A	10: 36,989,184	D131E	probably benign	Het
Hira	T	A	16: 18,956,171	F949I	probably benign	Het
Ighv15-2	T	G	12: 114,565,037		probably benign	Het
Il3	A	G	11: 54,265,680		probably null	Het
Itgae	A	C	11: 73,111,342	M91L	probably benign	Het
Kat2b	A	G	17: 53,641,210	E336G	probably damaging	Het
Kctd21	T	A	7: 97,348,091	I257N	probably benign	Het
Kif23	C	G	9: 61,925,694		probably benign	Het
Lgi3	A	T	14: 70,532,821	I109L	probably benign	Het
Lhx9	A	T	1: 138,838,679	C124S	probably damaging	Het
Lipo4	A	G	19: 33,501,606	V278A	probably benign	Het
Lrp1b	T	C	2: 40,596,983	E142G	probably damaging	Het
Map9	G	A	3: 82,359,983		probably benign	Het
Miox	C	T	15: 89,334,454		probably benign	Het
Mndal	A	T	1: 173,857,513		probably benign	Het
Mug2	G	T	6: 122,074,714	V952L	possibly damaging	Het
Nepn	A	T	10: 52,400,437	T29S	probably damaging	Het
Olfr1055	T	C	2: 86,347,728	I13V	possibly damaging	Het
Olfr307	A	G	7: 86,335,595	I267T	probably benign	Het
Olfr729	T	G	14: 50,148,635	K80Q	probably damaging	Het
Olfr933	A	G	9: 38,976,278	I201V	probably benign	Het
Phf3	A	T	1: 30,805,065	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,228,243	R53G	probably benign	Het
Prickle1	A	G	15: 93,510,777	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,718,095	C309S	probably benign	Het
Rapgef2	A	T	3: 79,104,105	S224R	probably damaging	Het
Siglecg	G	A	7: 43,411,171	G325D	probably damaging	Het
Skor2	A	T	18: 76,859,098	I172F	unknown	Het
Slc9a1	A	G	4: 133,420,605	K645E	probably benign	Het
St14	T	A	9: 31,108,284		probably null	Het
Tas2r120	T	A	6: 132,657,589	Y211*	probably null	Het
Tbxa2r	C	A	10: 81,332,900	T141K	possibly damaging	Het
Tpd52l1	A	G	10: 31,379,256	S32P	probably damaging	Het
Ttn	T	A	2: 76,710,124	R34173W	probably damaging	Het
Ttn	C	A	2: 76,793,130	V15368L	possibly damaging	Het
Tyms	A	G	5: 30,063,258	I148T	probably damaging	Het
Vmn1r45	A	T	6: 89,933,510	Y159*	probably null	Het
Vmn1r58	A	C	7: 5,410,866	S122A	probably benign	Het
Vmn2r13	C	A	5: 109,175,049	V125L	probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps13b	T	C	15: 35,887,261	I3272T	probably benign	Het
Wfdc8	A	G	2: 164,597,185	Y426H	probably benign	Het
Zfp948	A	T	17: 21,587,294	K249N	probably damaging	Het
Zfyve1	A	G	12: 83,555,073		probably benign	Het
Zyg11a	G	A	4: 108,204,641	T321I	probably damaging	Het

Other mutations in Lrch3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Lrch3	APN	16	32994965	missense	probably benign	0.10
IGL01400:Lrch3	APN	16	32979541	missense	probably damaging	1.00
IGL02565:Lrch3	APN	16	33005714	missense	probably benign	0.00
IGL03076:Lrch3	APN	16	32981853	missense	possibly damaging	0.52
IGL03103:Lrch3	APN	16	32952137	missense	probably damaging	1.00
IGL03125:Lrch3	APN	16	32914277	missense	possibly damaging	0.83
IGL03349:Lrch3	APN	16	32955324	missense	probably damaging	1.00
eluted	UTSW	16	32986007	missense	probably null
leached	UTSW	16	32959463	missense	probably damaging	1.00
R0054:Lrch3	UTSW	16	32995852	intron	probably benign
R0123:Lrch3	UTSW	16	32961754	splice site	probably benign
R0326:Lrch3	UTSW	16	32979500	missense	probably damaging	1.00
R0455:Lrch3	UTSW	16	32986880	missense	probably damaging	0.99
R0734:Lrch3	UTSW	16	32997483	nonsense	probably null
R1204:Lrch3	UTSW	16	33009214	missense	probably damaging	1.00
R1470:Lrch3	UTSW	16	32988495	splice site	probably benign
R1526:Lrch3	UTSW	16	32950376	missense	probably damaging	1.00
R1597:Lrch3	UTSW	16	32950411	nonsense	probably null
R1850:Lrch3	UTSW	16	32986793	missense	probably benign	0.01
R1966:Lrch3	UTSW	16	32914385	missense	possibly damaging	0.94
R2241:Lrch3	UTSW	16	32995841	missense	probably damaging	0.99
R2313:Lrch3	UTSW	16	32961675	missense	probably damaging	1.00
R2902:Lrch3	UTSW	16	32950396	missense	probably damaging	1.00
R4723:Lrch3	UTSW	16	32988484	splice site	probably null
R4795:Lrch3	UTSW	16	33005704	missense	probably damaging	1.00
R4970:Lrch3	UTSW	16	32998513	missense	probably damaging	1.00
R5223:Lrch3	UTSW	16	32914397	missense	probably damaging	0.99
R5292:Lrch3	UTSW	16	32975807	missense	probably damaging	1.00
R5414:Lrch3	UTSW	16	32985965	splice site	probably null
R5470:Lrch3	UTSW	16	32998590	missense	probably damaging	1.00
R5594:Lrch3	UTSW	16	32914184	missense	probably damaging	0.99
R5843:Lrch3	UTSW	16	32998526	missense	probably damaging	1.00
R5862:Lrch3	UTSW	16	32995809	missense	probably damaging	1.00
R5911:Lrch3	UTSW	16	32959463	missense	probably damaging	1.00
R5932:Lrch3	UTSW	16	32975736	missense	probably damaging	1.00
R6519:Lrch3	UTSW	16	32994997	critical splice donor site	probably benign
R6731:Lrch3	UTSW	16	32950420	missense	probably damaging	1.00
R7182:Lrch3	UTSW	16	32993779	missense	probably benign	0.05
R7197:Lrch3	UTSW	16	32990295	missense	probably damaging	1.00
R7319:Lrch3	UTSW	16	32994993	missense	probably benign	0.19
R7392:Lrch3	UTSW	16	32986755	nonsense	probably null
R7408:Lrch3	UTSW	16	32986743	nonsense	probably null
R7414:Lrch3	UTSW	16	32998513	missense	probably damaging	1.00
R7425:Lrch3	UTSW	16	33005707	missense	probably damaging	1.00
R7909:Lrch3	UTSW	16	33009293	missense	probably benign	0.00
R7956:Lrch3	UTSW	16	32986007	missense	probably null
R8009:Lrch3	UTSW	16	33005713	missense	possibly damaging	0.72
R8247:Lrch3	UTSW	16	33009343	nonsense	probably null
R8408:Lrch3	UTSW	16	32955380	missense	probably damaging	1.00
R8686:Lrch3	UTSW	16	32981853	missense	possibly damaging	0.52
R8756:Lrch3	UTSW	16	32988440	missense	probably benign	0.33
R8947:Lrch3	UTSW	16	32981829	missense	possibly damaging	0.66
R9459:Lrch3	UTSW	16	32979405	missense	probably damaging	0.99
R9710:Lrch3	UTSW	16	32975738	nonsense	probably null
Z1176:Lrch3	UTSW	16	32914316	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- gggagagagagagagaACACATCTCG -3'
(R):5'- ACTGTCATCATGCAGCAAAGccaa -3'

Sequencing Primer
(F):5'- agtgacccagcatccaaag -3'
(R):5'- aggatgctgaccacacac -3'

Posted On

2013-05-09