Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02635:Lrrc59'

301484

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc59

Ensembl Gene

ENSMUSG00000020869

Gene Name

leucine rich repeat containing 59

Synonyms

C78668

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

IGL02635

Quality Score

Status

Chromosome

Chromosomal Location

94520603-94536049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94534282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 280 (V280E)

Ref Sequence

ENSEMBL: ENSMUSP00000021239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021239] [ENSMUST00000039949]

AlphaFold

Q922Q8

Predicted Effect

probably damaging
Transcript: ENSMUST00000021239
AA Change: V280E

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

SMART Domains

Protein: ENSMUSP00000021239
Gene: ENSMUSG00000020869
AA Change: V280E

Domain	Start	End	E-Value	Type
LRR	38	60	6.22e0	SMART
LRR	61	83	1.33e-1	SMART
LRR	84	106	3.75e0	SMART
LRR	107	131	1.09e2	SMART
coiled coil region	148	216	N/A	INTRINSIC
transmembrane domain	244	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000039949

SMART Domains

Protein: ENSMUSP00000036361
Gene: ENSMUSG00000039055

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
low complexity region	68	79	N/A	INTRINSIC
ERCC4	252	515	2.06e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127158

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	A	C	12: 112,381,586 (GRCm39)		noncoding transcript	Het
Abcc12	C	T	8: 87,236,311 (GRCm39)		probably benign	Het
Akap9	T	C	5: 4,120,500 (GRCm39)	S3639P	possibly damaging	Het
Ankar	C	T	1: 72,691,590 (GRCm39)	V1124I	possibly damaging	Het
AW209491	C	T	13: 14,811,852 (GRCm39)	A235V	possibly damaging	Het
Cask	A	T	X: 13,581,009 (GRCm39)	D58E	probably damaging	Het
Cdhr4	T	A	9: 107,870,070 (GRCm39)	M25K	probably benign	Het
Clasp2	A	G	9: 113,737,910 (GRCm39)	I1096V	probably damaging	Het
Fam234a	T	A	17: 26,433,427 (GRCm39)	I410F	possibly damaging	Het
Gbe1	T	C	16: 70,365,902 (GRCm39)	L693P	probably damaging	Het
Golgb1	G	T	16: 36,735,375 (GRCm39)	V1541L	probably benign	Het
Gpr143	G	A	X: 151,591,257 (GRCm39)	E382K	probably damaging	Het
Gpr171	C	T	3: 59,005,017 (GRCm39)	V253I	probably benign	Het
Gsap	T	A	5: 21,494,814 (GRCm39)	W10R	probably damaging	Het
Hsd17b12	T	A	2: 93,913,556 (GRCm39)	D116V	possibly damaging	Het
Ifih1	A	T	2: 62,442,173 (GRCm39)	L348Q	probably damaging	Het
Ighv1-50	G	A	12: 115,083,615 (GRCm39)	A35V	probably benign	Het
Lrcol1	A	C	5: 110,502,459 (GRCm39)	M112L	probably benign	Het
Med17	A	T	9: 15,185,845 (GRCm39)	I223K	probably damaging	Het
Oog3	T	C	4: 143,884,715 (GRCm39)	N407S	probably damaging	Het
Or4e1	T	C	14: 52,701,251 (GRCm39)	I72V	probably damaging	Het
Pear1	T	C	3: 87,657,453 (GRCm39)	*1035W	probably null	Het
Pkd1	T	A	17: 24,791,785 (GRCm39)	F1157L	probably damaging	Het
Pkp4	T	C	2: 59,135,842 (GRCm39)		probably benign	Het
Ppl	T	C	16: 4,907,631 (GRCm39)	E888G	probably benign	Het
Prh1	G	A	6: 132,549,246 (GRCm39)	G251E	unknown	Het
Prkar2a	A	G	9: 108,605,476 (GRCm39)	E178G	probably damaging	Het
Rfx6	A	T	10: 51,592,122 (GRCm39)	T352S	possibly damaging	Het
S1pr1	T	C	3: 115,505,739 (GRCm39)	K285R	probably benign	Het
Slc12a1	A	G	2: 125,067,898 (GRCm39)	H995R	probably benign	Het
Slc25a54	T	A	3: 109,020,133 (GRCm39)	N382K	possibly damaging	Het
Snrnp48	T	G	13: 38,393,845 (GRCm39)		probably benign	Het
Spg11	T	C	2: 121,943,549 (GRCm39)	D201G	possibly damaging	Het
Stox1	T	C	10: 62,500,685 (GRCm39)	D625G	probably benign	Het
Supt6	T	C	11: 78,103,565 (GRCm39)	H1380R	probably damaging	Het
Tcp1	T	A	17: 13,142,296 (GRCm39)	M430K	probably benign	Het
Tlr12	A	T	4: 128,510,609 (GRCm39)	V547E	probably damaging	Het
Tmem255b	G	T	8: 13,505,195 (GRCm39)	D167Y	probably damaging	Het
Trpc7	T	C	13: 56,923,981 (GRCm39)	R735G	probably damaging	Het
Trpm1	A	G	7: 63,848,972 (GRCm39)	T73A	probably benign	Het
Ubr3	A	T	2: 69,850,827 (GRCm39)	L1748F	probably damaging	Het
Xirp2	T	C	2: 67,338,254 (GRCm39)	I165T	possibly damaging	Het
Ybx1	T	C	4: 119,136,286 (GRCm39)	N282S	possibly damaging	Het
Zdhhc12	T	A	2: 29,983,531 (GRCm39)	I24F	probably damaging	Het

Other mutations in Lrrc59

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01321:Lrrc59	APN	11	94,529,426 (GRCm39)	nonsense	probably null
IGL01525:Lrrc59	APN	11	94,525,522 (GRCm39)	missense	probably damaging	0.99
IGL01929:Lrrc59	APN	11	94,534,342 (GRCm39)	missense	possibly damaging	0.69
IGL01958:Lrrc59	APN	11	94,529,354 (GRCm39)	splice site	probably null
R0277:Lrrc59	UTSW	11	94,534,248 (GRCm39)	missense	probably damaging	1.00
R0323:Lrrc59	UTSW	11	94,534,248 (GRCm39)	missense	probably damaging	1.00
R1794:Lrrc59	UTSW	11	94,529,421 (GRCm39)	missense	probably benign
R4833:Lrrc59	UTSW	11	94,525,498 (GRCm39)	missense	probably benign	0.00
R6242:Lrrc59	UTSW	11	94,525,809 (GRCm39)	missense	possibly damaging	0.65
R6817:Lrrc59	UTSW	11	94,520,891 (GRCm39)	missense	probably damaging	1.00
R7709:Lrrc59	UTSW	11	94,525,811 (GRCm39)	missense	probably damaging	1.00
R7724:Lrrc59	UTSW	11	94,534,170 (GRCm39)	missense	probably damaging	0.99
R8066:Lrrc59	UTSW	11	94,525,426 (GRCm39)	missense	possibly damaging	0.88
R9143:Lrrc59	UTSW	11	94,525,456 (GRCm39)	missense	probably damaging	1.00
R9166:Lrrc59	UTSW	11	94,522,959 (GRCm39)	missense	probably benign	0.00
R9266:Lrrc59	UTSW	11	94,532,044 (GRCm39)	critical splice acceptor site	probably null
Z1176:Lrrc59	UTSW	11	94,534,147 (GRCm39)	missense	probably benign	0.19

Posted On

2015-04-16