Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02302:Lrrc45'

287435

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc45

Ensembl Gene

ENSMUSG00000025145

Gene Name

leucine rich repeat containing 45

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

IGL02302

Quality Score

Status

Chromosome

Chromosomal Location

120604779-120611954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120609351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 403 (E403D)

Ref Sequence

ENSEMBL: ENSMUSP00000026139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018156] [ENSMUST00000026137] [ENSMUST00000026139] [ENSMUST00000055424] [ENSMUST00000106154] [ENSMUST00000106155] [ENSMUST00000145781] [ENSMUST00000142229] [ENSMUST00000151852]

AlphaFold

Q8CIM1

Predicted Effect

probably benign
Transcript: ENSMUST00000018156

SMART Domains

Protein: ENSMUSP00000018156
Gene: ENSMUSG00000018012

Domain	Start	End	E-Value	Type
RHO	6	179	8.8e-139	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000026137

SMART Domains

Protein: ENSMUSP00000026137
Gene: ENSMUSG00000025144

Domain	Start	End	E-Value	Type
Pfam:CENP-X	55	107	3e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026139
AA Change: E403D

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026139
Gene: ENSMUSG00000025145
AA Change: E403D

Domain	Start	End	E-Value	Type
LRR	57	84	9.11e0	SMART
LRR	85	112	1.01e-1	SMART
Blast:LRR	113	142	4e-11	BLAST
LRR	143	170	4.47e-3	SMART
LRR	171	198	2.2e-2	SMART
LRR	199	226	1.66e2	SMART
coiled coil region	360	645	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055424

SMART Domains

Protein: ENSMUSP00000050335
Gene: ENSMUSG00000025144

Domain	Start	End	E-Value	Type
Pfam:CENP-X	8	78	7.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106154

SMART Domains

Protein: ENSMUSP00000101760
Gene: ENSMUSG00000025144

Domain	Start	End	E-Value	Type
Pfam:CENP-X	44	114	6.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106155

SMART Domains

Protein: ENSMUSP00000101761
Gene: ENSMUSG00000025144

Domain	Start	End	E-Value	Type
low complexity region	39	50	N/A	INTRINSIC
low complexity region	86	110	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134322

Predicted Effect

probably benign
Transcript: ENSMUST00000145781
AA Change: E403D

PolyPhen 2 Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123038
Gene: ENSMUSG00000025145
AA Change: E403D

Domain	Start	End	E-Value	Type
LRR	57	84	9.11e0	SMART
LRR	85	112	1.01e-1	SMART
Blast:LRR	113	142	1e-10	BLAST
LRR	143	170	4.47e-3	SMART
LRR	171	198	2.2e-2	SMART
LRR	199	226	1.66e2	SMART
coiled coil region	360	399	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155187

Predicted Effect

probably benign
Transcript: ENSMUST00000142229

SMART Domains

Protein: ENSMUSP00000119523
Gene: ENSMUSG00000018012

Domain	Start	End	E-Value	Type
RHO	6	172	3.19e-127	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151852

SMART Domains

Protein: ENSMUSP00000115298
Gene: ENSMUSG00000025145

Domain	Start	End	E-Value	Type
low complexity region	50	65	N/A	INTRINSIC
Pfam:LRR_6	85	108	1e-2	PFAM
Blast:LRR	113	142	3e-11	BLAST
Pfam:LRR_6	143	162	7.6e-3	PFAM
Pfam:LRR_1	145	159	6.8e-2	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,422,257 (GRCm39)	Q211L	possibly damaging	Het
Abca14	T	A	7: 119,917,968 (GRCm39)		probably benign	Het
Abcb10	A	T	8: 124,685,411 (GRCm39)	V543D	possibly damaging	Het
Ankrd17	G	A	5: 90,431,057 (GRCm39)	T909I	probably benign	Het
Arhgef3	A	G	14: 27,084,799 (GRCm39)	N76S	probably benign	Het
Bbx	A	T	16: 50,045,278 (GRCm39)	C320S	probably damaging	Het
Castor2	G	A	5: 134,164,482 (GRCm39)	V148I	possibly damaging	Het
Cdh23	C	A	10: 60,159,302 (GRCm39)	V2159F	possibly damaging	Het
Cmtr2	G	A	8: 110,948,136 (GRCm39)	A149T	probably damaging	Het
Cntnap4	A	G	8: 113,512,535 (GRCm39)		probably benign	Het
Col6a3	A	T	1: 90,709,482 (GRCm39)	F1905I	unknown	Het
Ddx60	A	G	8: 62,428,866 (GRCm39)	Y792C	possibly damaging	Het
Dennd2b	A	G	7: 109,124,538 (GRCm39)	V1101A	probably damaging	Het
Dock4	T	C	12: 40,775,776 (GRCm39)	L573P	probably damaging	Het
Dop1b	A	G	16: 93,607,005 (GRCm39)	I2103V	probably benign	Het
Ear1	T	G	14: 44,056,504 (GRCm39)	Q121H	probably benign	Het
Eprs1	T	A	1: 185,119,321 (GRCm39)		probably benign	Het
Ero1a	T	C	14: 45,530,619 (GRCm39)	K271R	probably benign	Het
Esyt1	A	G	10: 128,348,236 (GRCm39)	L884P	probably damaging	Het
F2r	T	C	13: 95,741,160 (GRCm39)	N125S	probably damaging	Het
Fam217a	T	C	13: 35,095,144 (GRCm39)	E357G	probably damaging	Het
Gabbr1	C	T	17: 37,365,689 (GRCm39)	R123W	probably damaging	Het
Gimap4	T	G	6: 48,667,347 (GRCm39)	V34G	probably damaging	Het
Gm3248	A	T	14: 5,943,011 (GRCm38)	V180E	probably benign	Het
Hecw2	A	T	1: 53,972,407 (GRCm39)	N204K	probably damaging	Het
Ighv1-84	T	A	12: 115,944,549 (GRCm39)	K42*	probably null	Het
Kcnh7	T	A	2: 62,536,402 (GRCm39)	Q1060L	probably damaging	Het
Kif3b	T	A	2: 153,158,868 (GRCm39)	I223N	probably damaging	Het
Lama2	G	A	10: 27,088,039 (GRCm39)	P913S	probably benign	Het
Lgr4	A	G	2: 109,832,841 (GRCm39)	I334M	probably damaging	Het
Mccc2	A	G	13: 100,090,747 (GRCm39)	L462P	probably damaging	Het
Mfsd13b	T	C	7: 120,598,132 (GRCm39)	V346A	probably damaging	Het
Muc6	T	C	7: 141,227,763 (GRCm39)	T1342A	possibly damaging	Het
Mxd3	T	C	13: 55,477,091 (GRCm39)	N56S	probably benign	Het
Niban2	A	G	2: 32,811,135 (GRCm39)	I382V	probably benign	Het
Ntn5	G	T	7: 45,343,672 (GRCm39)	R337L	probably damaging	Het
Nynrin	A	G	14: 56,105,962 (GRCm39)	K894E	probably benign	Het
Or1j4	G	T	2: 36,740,715 (GRCm39)	G219V	probably benign	Het
Or2a25	T	A	6: 42,889,272 (GRCm39)	Y272N	probably damaging	Het
Or4f56	A	C	2: 111,703,887 (GRCm39)	S104R	possibly damaging	Het
Or7e168	A	T	9: 19,719,981 (GRCm39)	R122S	probably damaging	Het
Pappa2	T	C	1: 158,542,571 (GRCm39)	D1772G	probably benign	Het
Pcdh18	G	T	3: 49,710,387 (GRCm39)	F309L	probably benign	Het
Pcdhac2	G	T	18: 37,279,006 (GRCm39)	R662L	probably damaging	Het
Ppp5c	G	A	7: 16,742,555 (GRCm39)	S261L	possibly damaging	Het
Qng1	G	A	13: 58,529,749 (GRCm39)	R288W	probably damaging	Het
Rc3h1	T	C	1: 160,765,675 (GRCm39)		probably benign	Het
Rfx8	A	C	1: 39,704,682 (GRCm39)	S578A	possibly damaging	Het
Rhbdl3	T	G	11: 80,244,507 (GRCm39)	*405E	probably null	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rnf139	G	T	15: 58,770,606 (GRCm39)	L210F	probably damaging	Het
Rragc	A	G	4: 123,814,879 (GRCm39)	R192G	possibly damaging	Het
Ryr3	A	T	2: 112,794,701 (GRCm39)	V137E	probably damaging	Het
S100pbp	A	T	4: 129,076,234 (GRCm39)	D30E	probably damaging	Het
Smchd1	A	T	17: 71,665,128 (GRCm39)		probably benign	Het
Sppl3	T	A	5: 115,220,390 (GRCm39)	C101S	probably benign	Het
St8sia6	T	C	2: 13,728,324 (GRCm39)	T74A	probably benign	Het
Sult3a1	A	G	10: 33,742,571 (GRCm39)	N66S	possibly damaging	Het
Sv2b	T	A	7: 74,773,947 (GRCm39)	K508M	probably damaging	Het
Terf1	T	C	1: 15,903,626 (GRCm39)	S275P	probably damaging	Het
Tmed8	G	T	12: 87,220,990 (GRCm39)	H199N	probably damaging	Het
Tubg2	A	T	11: 101,046,971 (GRCm39)	Q9L	probably damaging	Het
Ubxn4	C	T	1: 128,183,848 (GRCm39)		probably benign	Het
Usp34	C	T	11: 23,417,243 (GRCm39)	T2964I	possibly damaging	Het
Zfp213	A	G	17: 23,776,945 (GRCm39)	S366P	possibly damaging	Het

Other mutations in Lrrc45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Lrrc45	APN	11	120,611,436 (GRCm39)	splice site	probably benign
IGL01120:Lrrc45	APN	11	120,610,836 (GRCm39)	missense	probably benign
IGL01536:Lrrc45	APN	11	120,606,410 (GRCm39)	missense	probably benign	0.01
IGL01839:Lrrc45	APN	11	120,607,975 (GRCm39)	splice site	probably null
IGL02190:Lrrc45	APN	11	120,609,334 (GRCm39)	missense	probably damaging	0.99
IGL02724:Lrrc45	APN	11	120,609,144 (GRCm39)	missense	probably benign	0.25
BB002:Lrrc45	UTSW	11	120,606,706 (GRCm39)	missense	probably benign
BB012:Lrrc45	UTSW	11	120,606,706 (GRCm39)	missense	probably benign
R0396:Lrrc45	UTSW	11	120,605,733 (GRCm39)	splice site	probably benign
R0420:Lrrc45	UTSW	11	120,606,045 (GRCm39)	missense	probably damaging	1.00
R0540:Lrrc45	UTSW	11	120,605,988 (GRCm39)	nonsense	probably null
R0833:Lrrc45	UTSW	11	120,609,019 (GRCm39)	splice site	probably null
R0942:Lrrc45	UTSW	11	120,609,064 (GRCm39)	unclassified	probably benign
R1252:Lrrc45	UTSW	11	120,606,297 (GRCm39)	missense	probably benign	0.13
R1426:Lrrc45	UTSW	11	120,610,839 (GRCm39)	missense	probably benign	0.00
R1543:Lrrc45	UTSW	11	120,610,844 (GRCm39)	missense	probably benign	0.06
R1570:Lrrc45	UTSW	11	120,610,935 (GRCm39)	critical splice donor site	probably null
R2392:Lrrc45	UTSW	11	120,610,365 (GRCm39)	missense	probably benign	0.00
R3000:Lrrc45	UTSW	11	120,609,273 (GRCm39)	missense	probably benign	0.00
R3930:Lrrc45	UTSW	11	120,609,503 (GRCm39)	missense	probably benign	0.06
R4158:Lrrc45	UTSW	11	120,609,272 (GRCm39)	missense	possibly damaging	0.52
R4161:Lrrc45	UTSW	11	120,609,272 (GRCm39)	missense	possibly damaging	0.52
R4432:Lrrc45	UTSW	11	120,606,047 (GRCm39)	critical splice donor site	probably null
R4647:Lrrc45	UTSW	11	120,609,947 (GRCm39)	missense	probably benign	0.02
R6030:Lrrc45	UTSW	11	120,611,474 (GRCm39)	nonsense	probably null
R6030:Lrrc45	UTSW	11	120,611,474 (GRCm39)	nonsense	probably null
R6220:Lrrc45	UTSW	11	120,610,353 (GRCm39)	missense	probably benign	0.37
R7676:Lrrc45	UTSW	11	120,611,148 (GRCm39)	missense	probably damaging	1.00
R7925:Lrrc45	UTSW	11	120,606,706 (GRCm39)	missense	probably benign
R9067:Lrrc45	UTSW	11	120,606,649 (GRCm39)	missense	possibly damaging	0.92
R9069:Lrrc45	UTSW	11	120,607,947 (GRCm39)	missense	probably benign
R9366:Lrrc45	UTSW	11	120,611,552 (GRCm39)	missense	probably damaging	1.00
X0026:Lrrc45	UTSW	11	120,611,058 (GRCm39)	missense	probably damaging	1.00
Z1088:Lrrc45	UTSW	11	120,611,057 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrrc45	UTSW	11	120,609,491 (GRCm39)	missense	possibly damaging	0.90
Z1177:Lrrc45	UTSW	11	120,609,479 (GRCm39)	missense	probably benign	0.43

Posted On

2015-04-16