Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01933:Lrrc46'

180520

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc46

Ensembl Gene

ENSMUSG00000020878

Gene Name

leucine rich repeat containing 46

Synonyms

1700006D24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL01933

Quality Score

Status

Chromosome

Chromosomal Location

96925428-96932195 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96926354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 181 (E181K)

Ref Sequence

ENSEMBL: ENSMUSP00000021251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021249] [ENSMUST00000021251] [ENSMUST00000153482]

AlphaFold

Q9DAP0

Predicted Effect

probably benign
Transcript: ENSMUST00000021249

SMART Domains

Protein: ENSMUSP00000021249
Gene: ENSMUSG00000020877

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:Peptidase_C69	83	254	2e-10	PFAM
coiled coil region	362	395	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000021251
AA Change: E181K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000021251
Gene: ENSMUSG00000020878
AA Change: E181K

Domain	Start	End	E-Value	Type
SCOP:d1h6ua2	44	150	1e-15	SMART
Blast:LRR	69	91	7e-6	BLAST
low complexity region	179	191	N/A	INTRINSIC
low complexity region	209	225	N/A	INTRINSIC
low complexity region	265	292	N/A	INTRINSIC
low complexity region	297	323	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133054

Predicted Effect

probably benign
Transcript: ENSMUST00000153482

SMART Domains

Protein: ENSMUSP00000116606
Gene: ENSMUSG00000020877

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:Peptidase_C69	59	181	2.4e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,164,650 (GRCm39)	V575F	possibly damaging	Het
Abca2	T	A	2: 25,334,123 (GRCm39)	V1800E	probably damaging	Het
Acacb	C	T	5: 114,322,251 (GRCm39)		probably benign	Het
Adam34	C	A	8: 44,104,569 (GRCm39)	G359W	probably damaging	Het
Ankrd42	G	A	7: 92,254,493 (GRCm39)	T372I	probably benign	Het
Apc2	A	G	10: 80,147,574 (GRCm39)	D847G	probably damaging	Het
Arap3	T	A	18: 38,111,506 (GRCm39)	T1137S	possibly damaging	Het
Atp10b	A	C	11: 43,085,457 (GRCm39)	T279P	probably damaging	Het
Bmp2	T	A	2: 133,396,578 (GRCm39)	M78K	possibly damaging	Het
Ccdc61	T	G	7: 18,626,483 (GRCm39)	M369L	probably benign	Het
Cep78	A	T	19: 15,933,304 (GRCm39)	I758N	probably benign	Het
Ces2a	A	G	8: 105,468,047 (GRCm39)	*526W	probably null	Het
Cgnl1	C	T	9: 71,552,765 (GRCm39)		probably benign	Het
Clec14a	A	G	12: 58,315,104 (GRCm39)	Y173H	probably damaging	Het
Cntn4	G	A	6: 106,671,345 (GRCm39)	S976N	probably damaging	Het
Col6a4	G	A	9: 105,937,313 (GRCm39)	T1401I	probably benign	Het
D5Ertd579e	T	C	5: 36,773,100 (GRCm39)	T432A	probably benign	Het
Dixdc1	G	A	9: 50,614,558 (GRCm39)	R163*	probably null	Het
Dmxl1	C	A	18: 50,010,852 (GRCm39)	T1003K	probably benign	Het
Dnah1	G	A	14: 31,032,872 (GRCm39)	R388W	probably benign	Het
Eci3	C	T	13: 35,132,772 (GRCm39)	A202T	probably damaging	Het
Egr2	T	C	10: 67,376,024 (GRCm39)	S220P	probably damaging	Het
Fntb	C	T	12: 76,966,880 (GRCm39)	P405S	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm26602	C	A	10: 79,746,955 (GRCm39)	R236L	probably benign	Het
Hao2	T	C	3: 98,787,648 (GRCm39)		probably benign	Het
Irgm2	A	T	11: 58,110,783 (GRCm39)	N170I	possibly damaging	Het
Klhl20	G	A	1: 160,934,357 (GRCm39)	R221W	probably damaging	Het
Kmt2b	A	G	7: 30,268,939 (GRCm39)		probably null	Het
Lztr1	T	A	16: 17,338,455 (GRCm39)	V226E	probably damaging	Het
Myh9	G	T	15: 77,665,418 (GRCm39)	D684E	probably benign	Het
Myo7a	T	C	7: 97,732,349 (GRCm39)	T713A	probably damaging	Het
Nrap	G	T	19: 56,377,250 (GRCm39)	N62K	probably damaging	Het
Or51a10	T	C	7: 103,699,021 (GRCm39)	Y180C	probably damaging	Het
Or5an1	A	T	19: 12,261,069 (GRCm39)	Y219F	probably damaging	Het
Osbp2	T	C	11: 3,662,016 (GRCm39)	D708G	probably damaging	Het
Pcnx2	G	A	8: 126,488,393 (GRCm39)	P1717L	probably damaging	Het
Pex1	A	G	5: 3,683,789 (GRCm39)	D1095G	probably damaging	Het
Ptpn3	T	C	4: 57,197,576 (GRCm39)	H771R	probably benign	Het
R3hcc1l	G	A	19: 42,551,389 (GRCm39)	A129T	probably damaging	Het
Rbm15	G	A	3: 107,238,419 (GRCm39)	R660W	probably damaging	Het
Recql	C	T	6: 142,310,364 (GRCm39)	V489M	probably benign	Het
Sash1	A	T	10: 8,626,897 (GRCm39)	S162R	probably damaging	Het
Sec11a	T	C	7: 80,584,810 (GRCm39)	I42M	probably benign	Het
Slc25a23	G	A	17: 57,359,813 (GRCm39)	Q61*	probably null	Het
Son	A	T	16: 91,454,903 (GRCm39)	M1217L	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Srgap2	T	C	1: 131,339,593 (GRCm39)	N123S	probably damaging	Het
Ssh1	T	C	5: 114,088,441 (GRCm39)		probably benign	Het
St13	T	C	15: 81,273,899 (GRCm39)		probably null	Het
St3gal3	A	T	4: 117,889,072 (GRCm39)	D57E	probably damaging	Het
Stk4	C	T	2: 163,940,505 (GRCm39)		probably benign	Het
Tln1	T	A	4: 43,539,508 (GRCm39)	T1605S	probably benign	Het
Tln1	T	C	4: 43,555,894 (GRCm39)	T107A	possibly damaging	Het
Tmem135	G	T	7: 88,793,065 (GRCm39)		probably benign	Het
Tmtc3	A	G	10: 100,283,467 (GRCm39)	M696T	probably benign	Het
Trbv28	T	A	6: 41,248,761 (GRCm39)	L97Q	probably damaging	Het
Trpc4ap	A	T	2: 155,481,455 (GRCm39)	F534I	possibly damaging	Het
Trpm8	T	C	1: 88,254,127 (GRCm39)	Y117H	probably damaging	Het
Zfp608	T	C	18: 55,120,871 (GRCm39)	T239A	probably benign	Het
Zmym5	T	G	14: 57,041,617 (GRCm39)	H162P	probably damaging	Het

Other mutations in Lrrc46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01757:Lrrc46	APN	11	96,926,701 (GRCm39)	missense	probably damaging	1.00
R0054:Lrrc46	UTSW	11	96,929,605 (GRCm39)	missense	probably damaging	1.00
R0054:Lrrc46	UTSW	11	96,929,605 (GRCm39)	missense	probably damaging	1.00
R0082:Lrrc46	UTSW	11	96,931,903 (GRCm39)	unclassified	probably benign
R1104:Lrrc46	UTSW	11	96,926,997 (GRCm39)	missense	probably damaging	1.00
R1756:Lrrc46	UTSW	11	96,925,556 (GRCm39)	unclassified	probably benign
R2394:Lrrc46	UTSW	11	96,929,657 (GRCm39)	missense	probably damaging	1.00
R2885:Lrrc46	UTSW	11	96,925,806 (GRCm39)	missense	probably damaging	1.00
R2932:Lrrc46	UTSW	11	96,931,935 (GRCm39)	unclassified	probably benign
R4361:Lrrc46	UTSW	11	96,925,496 (GRCm39)	unclassified	probably benign
R4678:Lrrc46	UTSW	11	96,925,719 (GRCm39)	missense	probably benign	0.37
R4989:Lrrc46	UTSW	11	96,931,765 (GRCm39)	missense	probably damaging	1.00
R5150:Lrrc46	UTSW	11	96,926,957 (GRCm39)	missense	probably damaging	1.00
R6390:Lrrc46	UTSW	11	96,931,757 (GRCm39)	missense	probably damaging	1.00
R6467:Lrrc46	UTSW	11	96,927,305 (GRCm39)	missense	possibly damaging	0.93
R6860:Lrrc46	UTSW	11	96,926,371 (GRCm39)	missense	probably benign	0.05
R7373:Lrrc46	UTSW	11	96,929,706 (GRCm39)	missense	probably benign	0.17
R8188:Lrrc46	UTSW	11	96,931,705 (GRCm39)	missense	probably damaging	1.00
R9723:Lrrc46	UTSW	11	96,925,773 (GRCm39)	missense	possibly damaging	0.63

Posted On

2014-05-07