Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01757:Lrrc46'

153222

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc46

Ensembl Gene

ENSMUSG00000020878

Gene Name

leucine rich repeat containing 46

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

IGL01757

Quality Score

Status

Chromosome

Chromosomal Location

97034602-97041407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97035875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 154 (Y154C)

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 damaging
Transcript: ENSMUST00000021251
AA Change: Y154C

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

SMART Domains

Protein: ENSMUSP00000021251
Gene: ENSMUSG00000020878
AA Change: Y154C

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,990,281		probably benign	Het
Adamts9	T	C	6: 92,796,159	Y1789C	probably damaging	Het
Cdcp1	A	T	9: 123,180,001	Y537*	probably null	Het
Chic2	T	C	5: 75,006,767		probably benign	Het
Cpa5	G	A	6: 30,625,927		probably benign	Het
Csgalnact2	T	C	6: 118,129,346	R4G	probably damaging	Het
Dnah10	T	A	5: 124,768,927	V1510D	probably benign	Het
Dnm2	T	A	9: 21,465,619	F91L	probably damaging	Het
Eif2b1	T	C	5: 124,573,140	K189E	probably benign	Het
Fgf17	A	T	14: 70,636,980	L123Q	probably damaging	Het
Ifna15	T	C	4: 88,558,085	K54R	possibly damaging	Het
Isg15	A	G	4: 156,199,844	C76R	probably damaging	Het
Ldb2	A	T	5: 44,541,867		probably benign	Het
Lig4	A	G	8: 9,971,185	I865T	probably benign	Het
Lrrc8a	G	A	2: 30,255,525	R117H	possibly damaging	Het
Mrpl2	A	G	17: 46,648,257	I96V	probably damaging	Het
Mtif2	G	A	11: 29,541,337		probably benign	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Ptpn23	G	A	9: 110,391,636	R269W	probably damaging	Het
Senp2	T	C	16: 22,009,664	V8A	probably benign	Het
Slf1	T	C	13: 77,084,440	D515G	probably benign	Het
Spc25	G	A	2: 69,202,608	Q58*	probably null	Het
Sult2a5	T	C	7: 13,665,154	S229P	probably damaging	Het
Tfap2d	A	G	1: 19,104,580	T86A	probably benign	Het
Trp53bp1	A	G	2: 121,211,304	V1257A	probably damaging	Het
Wdr6	A	G	9: 108,576,228	V152A	possibly damaging	Het
Zdhhc7	A	G	8: 120,087,923	V49A	probably benign	Het
Zfp648	T	C	1: 154,204,925	S277P	probably damaging	Het

Other mutations in Lrrc46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01933:Lrrc46	APN	11	97035528	missense	probably benign	0.21
R0054:Lrrc46	UTSW	11	97038779	missense	probably damaging	1.00
R0054:Lrrc46	UTSW	11	97038779	missense	probably damaging	1.00
R0082:Lrrc46	UTSW	11	97041077	unclassified	probably benign
R1104:Lrrc46	UTSW	11	97036171	missense	probably damaging	1.00
R1756:Lrrc46	UTSW	11	97034730	unclassified	probably benign
R2394:Lrrc46	UTSW	11	97038831	missense	probably damaging	1.00
R2885:Lrrc46	UTSW	11	97034980	missense	probably damaging	1.00
R2932:Lrrc46	UTSW	11	97041109	unclassified	probably benign
R4361:Lrrc46	UTSW	11	97034670	unclassified	probably benign
R4678:Lrrc46	UTSW	11	97034893	missense	probably benign	0.37
R4989:Lrrc46	UTSW	11	97040939	missense	probably damaging	1.00
R5150:Lrrc46	UTSW	11	97036131	missense	probably damaging	1.00
R6390:Lrrc46	UTSW	11	97040931	missense	probably damaging	1.00
R6467:Lrrc46	UTSW	11	97036479	missense	possibly damaging	0.93
R6860:Lrrc46	UTSW	11	97035545	missense	probably benign	0.05
R7373:Lrrc46	UTSW	11	97038880	missense	probably benign	0.17
R8188:Lrrc46	UTSW	11	97040879	missense	probably damaging	1.00
R9723:Lrrc46	UTSW	11	97034947	missense	possibly damaging	0.63

Posted On

2014-02-04