Mutagenetix > Incidental Mutation

Incidental Mutation 'R1204:Lrch3'

100360

Institutional Source

Beutler Lab

Gene Symbol

Lrch3

Ensembl Gene

ENSMUSG00000022801

Gene Name

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

Synonyms

LOC385628, 2210409B11Rik

MMRRC Submission

039274-MU

Accession Numbers

Essential gene?

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

Stock #

R1204 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32734470-32836017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32829584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 738 (I738T)

Ref Sequence

ENSEMBL: ENSMUSP00000130708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023491] [ENSMUST00000115100] [ENSMUST00000135193] [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: ENSMUST00000105610

Predicted Effect

probably benign
Transcript: ENSMUST00000115100

SMART Domains

Protein: ENSMUSP00000110752
Gene: ENSMUSG00000035578

Domain	Start	End	E-Value	Type
low complexity region	3	50	N/A	INTRINSIC
low complexity region	101	116	N/A	INTRINSIC
coiled coil region	248	329	N/A	INTRINSIC
IQ	371	393	1.54e-2	SMART
low complexity region	399	419	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000135193
AA Change: I738T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130708
Gene: ENSMUSG00000022801
AA Change: I738T

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

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: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,328,214 (GRCm39)	I133F	probably damaging	Het
Acyp1	A	T	12: 85,326,866 (GRCm39)		probably null	Het
Ermap	T	C	4: 119,046,064 (GRCm39)	K22R	possibly damaging	Het
Glce	T	C	9: 61,977,849 (GRCm39)	T12A	probably damaging	Het
Hao1	G	A	2: 134,364,947 (GRCm39)	R227*	probably null	Het
Hectd4	A	G	5: 121,488,548 (GRCm39)	D3613G	possibly damaging	Het
Hspa2	A	G	12: 76,451,641 (GRCm39)	M112V	probably benign	Het
Knl1	A	G	2: 118,901,670 (GRCm39)	I1124V	probably benign	Het
Mgrn1	T	G	16: 4,725,273 (GRCm39)	F44V	probably damaging	Het
Or1af1	A	G	2: 37,109,651 (GRCm39)	Q50R	probably benign	Het
Otog	G	A	7: 45,909,335 (GRCm39)	V602M	probably benign	Het
Pik3r5	T	G	11: 68,385,050 (GRCm39)	L652V	probably benign	Het
Pkdrej	G	A	15: 85,702,513 (GRCm39)	T1141M	probably damaging	Het
Sema3a	T	C	5: 13,573,142 (GRCm39)		probably benign	Het
Syt3	A	T	7: 44,042,091 (GRCm39)	I317F	probably damaging	Het
Tmem214	C	T	5: 31,033,134 (GRCm39)	A509V	probably damaging	Het
Tmem25	T	C	9: 44,706,529 (GRCm39)	E284G	probably benign	Het
Trim9	T	C	12: 70,393,501 (GRCm39)	N148D	probably damaging	Het
Vmn2r107	A	G	17: 20,578,031 (GRCm39)	R447G	probably benign	Het
Zfp964	A	T	8: 70,116,668 (GRCm39)	I423L	probably benign	Het

Other mutations in Lrch3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Lrch3	APN	16	32,815,335 (GRCm39)	missense	probably benign	0.10
IGL01400:Lrch3	APN	16	32,799,911 (GRCm39)	missense	probably damaging	1.00
IGL02565:Lrch3	APN	16	32,826,084 (GRCm39)	missense	probably benign	0.00
IGL03076:Lrch3	APN	16	32,802,223 (GRCm39)	missense	possibly damaging	0.52
IGL03103:Lrch3	APN	16	32,772,507 (GRCm39)	missense	probably damaging	1.00
IGL03125:Lrch3	APN	16	32,734,647 (GRCm39)	missense	possibly damaging	0.83
IGL03349:Lrch3	APN	16	32,775,694 (GRCm39)	missense	probably damaging	1.00
eluted	UTSW	16	32,806,377 (GRCm39)	missense	probably null
leached	UTSW	16	32,779,833 (GRCm39)	missense	probably damaging	1.00
R0054:Lrch3	UTSW	16	32,816,222 (GRCm39)	intron	probably benign
R0123:Lrch3	UTSW	16	32,782,124 (GRCm39)	splice site	probably benign
R0225:Lrch3	UTSW	16	32,782,124 (GRCm39)	splice site	probably benign
R0326:Lrch3	UTSW	16	32,799,870 (GRCm39)	missense	probably damaging	1.00
R0455:Lrch3	UTSW	16	32,807,250 (GRCm39)	missense	probably damaging	0.99
R0734:Lrch3	UTSW	16	32,817,853 (GRCm39)	nonsense	probably null
R1470:Lrch3	UTSW	16	32,808,865 (GRCm39)	splice site	probably benign
R1526:Lrch3	UTSW	16	32,770,746 (GRCm39)	missense	probably damaging	1.00
R1597:Lrch3	UTSW	16	32,770,781 (GRCm39)	nonsense	probably null
R1850:Lrch3	UTSW	16	32,807,163 (GRCm39)	missense	probably benign	0.01
R1966:Lrch3	UTSW	16	32,734,755 (GRCm39)	missense	possibly damaging	0.94
R2241:Lrch3	UTSW	16	32,816,211 (GRCm39)	missense	probably damaging	0.99
R2313:Lrch3	UTSW	16	32,782,045 (GRCm39)	missense	probably damaging	1.00
R2902:Lrch3	UTSW	16	32,770,766 (GRCm39)	missense	probably damaging	1.00
R4723:Lrch3	UTSW	16	32,808,854 (GRCm39)	splice site	probably null
R4795:Lrch3	UTSW	16	32,826,074 (GRCm39)	missense	probably damaging	1.00
R4970:Lrch3	UTSW	16	32,818,883 (GRCm39)	missense	probably damaging	1.00
R5223:Lrch3	UTSW	16	32,734,767 (GRCm39)	missense	probably damaging	0.99
R5292:Lrch3	UTSW	16	32,796,177 (GRCm39)	missense	probably damaging	1.00
R5414:Lrch3	UTSW	16	32,806,335 (GRCm39)	splice site	probably null
R5470:Lrch3	UTSW	16	32,818,960 (GRCm39)	missense	probably damaging	1.00
R5594:Lrch3	UTSW	16	32,734,554 (GRCm39)	missense	probably damaging	0.99
R5843:Lrch3	UTSW	16	32,818,896 (GRCm39)	missense	probably damaging	1.00
R5862:Lrch3	UTSW	16	32,816,179 (GRCm39)	missense	probably damaging	1.00
R5911:Lrch3	UTSW	16	32,779,833 (GRCm39)	missense	probably damaging	1.00
R5932:Lrch3	UTSW	16	32,796,106 (GRCm39)	missense	probably damaging	1.00
R6519:Lrch3	UTSW	16	32,815,367 (GRCm39)	critical splice donor site	probably benign
R6731:Lrch3	UTSW	16	32,770,790 (GRCm39)	missense	probably damaging	1.00
R7182:Lrch3	UTSW	16	32,814,149 (GRCm39)	missense	probably benign	0.05
R7197:Lrch3	UTSW	16	32,810,665 (GRCm39)	missense	probably damaging	1.00
R7319:Lrch3	UTSW	16	32,815,363 (GRCm39)	missense	probably benign	0.19
R7392:Lrch3	UTSW	16	32,807,125 (GRCm39)	nonsense	probably null
R7408:Lrch3	UTSW	16	32,807,113 (GRCm39)	nonsense	probably null
R7414:Lrch3	UTSW	16	32,818,883 (GRCm39)	missense	probably damaging	1.00
R7425:Lrch3	UTSW	16	32,826,077 (GRCm39)	missense	probably damaging	1.00
R7909:Lrch3	UTSW	16	32,829,663 (GRCm39)	missense	probably benign	0.00
R7956:Lrch3	UTSW	16	32,806,377 (GRCm39)	missense	probably null
R8009:Lrch3	UTSW	16	32,826,083 (GRCm39)	missense	possibly damaging	0.72
R8247:Lrch3	UTSW	16	32,829,713 (GRCm39)	nonsense	probably null
R8408:Lrch3	UTSW	16	32,775,750 (GRCm39)	missense	probably damaging	1.00
R8686:Lrch3	UTSW	16	32,802,223 (GRCm39)	missense	possibly damaging	0.52
R8756:Lrch3	UTSW	16	32,808,810 (GRCm39)	missense	probably benign	0.33
R8947:Lrch3	UTSW	16	32,802,199 (GRCm39)	missense	possibly damaging	0.66
R9459:Lrch3	UTSW	16	32,799,775 (GRCm39)	missense	probably damaging	0.99
R9710:Lrch3	UTSW	16	32,796,108 (GRCm39)	nonsense	probably null
Z1176:Lrch3	UTSW	16	32,734,686 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TGAGCCAGCCTTGTTCTTCAGC -3'
(R):5'- TCAAGTCAGGGTCTGAAACACACG -3'

Sequencing Primer
(F):5'- AATGCTGGGTTTCTGAGCTC -3'
(R):5'- TCAGCAGTTCTGCATGAGAAAC -3'

Posted On

2014-01-15