Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01985:Lrrc10'

181871

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc10

Ensembl Gene

ENSMUSG00000060187

Gene Name

leucine rich repeat containing 10

Synonyms

D330003I11Rik, Hrlrrp, Serdin1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01985

Quality Score

Status

Chromosome

Chromosomal Location

116881246-116882673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116881921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 198 (D198E)

Ref Sequence

ENSEMBL: ENSMUSP00000073502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047672] [ENSMUST00000073834]

AlphaFold

Q8K3W2

Predicted Effect

probably benign
Transcript: ENSMUST00000047672

SMART Domains

Protein: ENSMUSP00000036288
Gene: ENSMUSG00000034024

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	35	525	3.2e-150	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000073834
AA Change: D198E

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

SMART Domains

Protein: ENSMUSP00000073502
Gene: ENSMUSG00000060187
AA Change: D198E

Domain	Start	End	E-Value	Type
LRR	51	73	3.75e0	SMART
LRR	74	95	2.2e1	SMART
LRR	97	119	2.76e1	SMART
LRR_TYP	120	143	1.92e-2	SMART
LRR	166	189	1.62e0	SMART
low complexity region	265	274	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217799

Predicted Effect

probably benign
Transcript: ENSMUST00000219690

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation are viable and fertile. They show prenatal systolic dysfunction and development of dilated cardiomyopathy in postnatal life. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	G	A	4: 144,442,024 (GRCm39)	Q76*	probably null	Het
Cass4	A	C	2: 172,269,126 (GRCm39)	S403R	probably damaging	Het
Ccdc175	A	T	12: 72,175,052 (GRCm39)	Y540*	probably null	Het
Cep164	C	T	9: 45,690,904 (GRCm39)	E1266K	probably damaging	Het
Clec12b	T	A	6: 129,359,334 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,814,482 (GRCm39)	K510R	unknown	Het
Crisp4	G	A	1: 18,204,289 (GRCm39)	P101S	probably damaging	Het
Dapk1	T	C	13: 60,884,074 (GRCm39)	L614P	probably damaging	Het
Dip2c	T	C	13: 9,603,303 (GRCm39)		probably benign	Het
Dock7	A	G	4: 98,911,614 (GRCm39)	F589L	probably benign	Het
Dvl2	T	A	11: 69,899,119 (GRCm39)	V459E	probably damaging	Het
E2f6	T	C	12: 16,869,064 (GRCm39)		probably null	Het
Exph5	T	C	9: 53,287,869 (GRCm39)	L1650P	probably damaging	Het
Farp2	A	G	1: 93,535,324 (GRCm39)	Y691C	probably damaging	Het
Fshb	T	C	2: 106,889,173 (GRCm39)	T44A	probably benign	Het
Gm28044	T	A	13: 67,495,958 (GRCm39)	K28*	probably null	Het
Il12b	G	A	11: 44,298,881 (GRCm39)	W112*	probably null	Het
Ino80	T	C	2: 119,263,802 (GRCm39)	T621A	probably damaging	Het
Irx5	T	A	8: 93,086,155 (GRCm39)		probably benign	Het
Jmy	T	C	13: 93,596,144 (GRCm39)	H495R	possibly damaging	Het
Kif21a	A	T	15: 90,875,970 (GRCm39)	V321D	probably damaging	Het
Lrsam1	T	C	2: 32,818,103 (GRCm39)	E651G	probably benign	Het
Mtarc1	A	G	1: 184,519,931 (GRCm39)	V230A	probably damaging	Het
Mylk4	T	A	13: 32,901,564 (GRCm39)	I475L	possibly damaging	Het
Myom3	G	A	4: 135,493,013 (GRCm39)		probably null	Het
Or5ac19	A	T	16: 59,089,442 (GRCm39)	V196E	probably benign	Het
Pah	G	A	10: 87,414,844 (GRCm39)	V399M	probably damaging	Het
Pik3r4	G	A	9: 105,540,244 (GRCm39)	E711K	probably benign	Het
Rbbp6	A	G	7: 122,570,296 (GRCm39)	K38E	probably damaging	Het
Ror1	G	A	4: 100,283,161 (GRCm39)	V409M	possibly damaging	Het
Slc6a11	T	A	6: 114,111,853 (GRCm39)	V140D	probably benign	Het
Srebf2	G	T	15: 82,076,560 (GRCm39)	A737S	probably benign	Het
Tcerg1	A	G	18: 42,663,721 (GRCm39)	T303A	unknown	Het
Tmem74	A	T	15: 43,730,476 (GRCm39)	I189N	probably damaging	Het
Tnr	A	G	1: 159,746,607 (GRCm39)	D1242G	possibly damaging	Het
U2surp	A	T	9: 95,372,279 (GRCm39)	F293L	probably damaging	Het
Uchl5	G	A	1: 143,661,864 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,402,565 (GRCm39)	C2472S	probably damaging	Het
Usp42	G	A	5: 143,700,940 (GRCm39)	R1028W	probably damaging	Het
Vmn2r10	A	G	5: 109,154,125 (GRCm39)	S60P	probably benign	Het
Vmn2r31	G	T	7: 7,397,510 (GRCm39)	D249E	probably benign	Het
Vnn1	C	T	10: 23,776,642 (GRCm39)	T331I	probably benign	Het
Zmym6	G	T	4: 126,994,541 (GRCm39)	V232F	probably damaging	Het

Other mutations in Lrrc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0077:Lrrc10	UTSW	10	116,881,419 (GRCm39)	missense	probably damaging	1.00
R0110:Lrrc10	UTSW	10	116,881,695 (GRCm39)	missense	probably damaging	1.00
R0469:Lrrc10	UTSW	10	116,881,695 (GRCm39)	missense	probably damaging	1.00
R0510:Lrrc10	UTSW	10	116,881,695 (GRCm39)	missense	probably damaging	1.00
R1293:Lrrc10	UTSW	10	116,881,838 (GRCm39)	missense	probably benign	0.02
R1642:Lrrc10	UTSW	10	116,881,788 (GRCm39)	missense	probably damaging	1.00
R3835:Lrrc10	UTSW	10	116,881,691 (GRCm39)	missense	possibly damaging	0.75
R4413:Lrrc10	UTSW	10	116,881,719 (GRCm39)	missense	probably damaging	1.00
R5165:Lrrc10	UTSW	10	116,881,965 (GRCm39)	missense	probably benign	0.02
R5289:Lrrc10	UTSW	10	116,881,392 (GRCm39)	missense	probably benign	0.01
R5605:Lrrc10	UTSW	10	116,881,805 (GRCm39)	missense	probably damaging	1.00
R6418:Lrrc10	UTSW	10	116,881,616 (GRCm39)	missense	probably damaging	1.00
R6827:Lrrc10	UTSW	10	116,881,545 (GRCm39)	missense	possibly damaging	0.79
R6916:Lrrc10	UTSW	10	116,881,454 (GRCm39)	missense	possibly damaging	0.80
R7678:Lrrc10	UTSW	10	116,881,662 (GRCm39)	missense	probably benign	0.00
R8866:Lrrc10	UTSW	10	116,881,858 (GRCm39)	missense	probably damaging	0.99
R9355:Lrrc10	UTSW	10	116,881,881 (GRCm39)	missense	probably damaging	1.00
X0020:Lrrc10	UTSW	10	116,881,335 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07