Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02892:Lrrc23'

363213

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc23

Ensembl Gene

ENSMUSG00000030125

Gene Name

leucine rich repeat containing 23

Synonyms

Lrpb7, 4921537K05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02892

Quality Score

Status

Chromosome

Chromosomal Location

124746826-124756690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124751399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 220 (N220S)

Ref Sequence

ENSEMBL: ENSMUSP00000108094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004378] [ENSMUST00000032218] [ENSMUST00000112475] [ENSMUST00000112476] [ENSMUST00000128697] [ENSMUST00000156033] [ENSMUST00000204896] [ENSMUST00000151214] [ENSMUST00000149652] [ENSMUST00000147669]

AlphaFold

O35125

Predicted Effect

probably benign
Transcript: ENSMUST00000004378

SMART Domains

Protein: ENSMUSP00000004378
Gene: ENSMUSG00000004267

Domain	Start	End	E-Value	Type
Enolase_N	3	134	2.62e-93	SMART
Enolase_C	142	431	2.62e-207	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000032218
AA Change: N220S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032218
Gene: ENSMUSG00000030125
AA Change: N220S

Domain	Start	End	E-Value	Type
coiled coil region	12	40	N/A	INTRINSIC
Pfam:LRR_1	89	109	1.2e-2	PFAM
LRR	196	217	1.33e2	SMART
LRR	218	239	4.97e0	SMART
LRR	241	263	3.27e1	SMART
low complexity region	305	314	N/A	INTRINSIC
low complexity region	323	332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112475
AA Change: N220S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000108094
Gene: ENSMUSG00000030125
AA Change: N220S

Domain	Start	End	E-Value	Type
coiled coil region	12	40	N/A	INTRINSIC
internal_repeat_1	90	182	7.1e-5	PROSPERO
LRR	196	217	1.33e2	SMART
LRR	218	239	4.97e0	SMART
LRR	241	263	3.27e1	SMART
low complexity region	305	314	N/A	INTRINSIC
low complexity region	323	332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112476

SMART Domains

Protein: ENSMUSP00000108095
Gene: ENSMUSG00000004267

Domain	Start	End	E-Value	Type
Enolase_N	3	118	2.39e-55	SMART
Enolase_C	71	312	9.08e-120	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128697

SMART Domains

Protein: ENSMUSP00000122362
Gene: ENSMUSG00000030125

Domain	Start	End	E-Value	Type
coiled coil region	12	40	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147004

Predicted Effect

probably benign
Transcript: ENSMUST00000156033

SMART Domains

Protein: ENSMUSP00000144698
Gene: ENSMUSG00000004267

Domain	Start	End	E-Value	Type
Enolase_N	3	58	5.2e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204896

SMART Domains

Protein: ENSMUSP00000144861
Gene: ENSMUSG00000004267

Domain	Start	End	E-Value	Type
Enolase_N	3	91	8e-52	SMART
Enolase_C	99	388	1.3e-211	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151214

Predicted Effect

probably benign
Transcript: ENSMUST00000149652

SMART Domains

Protein: ENSMUSP00000119112
Gene: ENSMUSG00000004267

Domain	Start	End	E-Value	Type
Enolase_N	3	134	2.62e-93	SMART
Pfam:Enolase_C	142	162	4.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147669

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	A	T	12: 84,651,771 (GRCm39)	L493*	probably null	Het
Adam32	T	A	8: 25,368,727 (GRCm39)		probably benign	Het
Alpk1	T	C	3: 127,473,771 (GRCm39)	D744G	possibly damaging	Het
Arhgef12	A	G	9: 42,912,268 (GRCm39)	V530A	possibly damaging	Het
Baz2b	A	T	2: 59,731,080 (GRCm39)	N2095K	probably damaging	Het
Btnl2	A	T	17: 34,581,642 (GRCm39)	Q240L	possibly damaging	Het
Cd96	T	C	16: 45,870,160 (GRCm39)		probably null	Het
Cep350	G	A	1: 155,744,552 (GRCm39)	T2089I	possibly damaging	Het
Chd9	T	C	8: 91,703,543 (GRCm39)		probably benign	Het
Cib4	C	T	5: 30,702,051 (GRCm39)		probably benign	Het
Cilp2	T	C	8: 70,336,970 (GRCm39)	T280A	probably benign	Het
Coq5	T	A	5: 115,432,876 (GRCm39)		probably benign	Het
Cyth3	A	G	5: 143,693,192 (GRCm39)	I339V	possibly damaging	Het
Dcaf7	T	C	11: 105,937,518 (GRCm39)	V47A	possibly damaging	Het
Dcdc2c	A	G	12: 28,585,544 (GRCm39)	I151T	probably benign	Het
Defb7	T	A	8: 19,547,678 (GRCm39)	F61Y	probably benign	Het
Diaph3	T	A	14: 87,104,066 (GRCm39)	K773*	probably null	Het
Dmxl1	A	G	18: 49,992,187 (GRCm39)	N311S	probably damaging	Het
Dnah7b	G	A	1: 46,158,458 (GRCm39)	R347H	possibly damaging	Het
Egflam	C	T	15: 7,319,277 (GRCm39)	V234I	probably benign	Het
Emilin3	C	T	2: 160,751,069 (GRCm39)	V180M	possibly damaging	Het
Fam76b	A	T	9: 13,740,117 (GRCm39)	E50V	probably null	Het
Fat3	A	T	9: 16,288,858 (GRCm39)	Y222N	probably damaging	Het
Grm7	A	G	6: 111,230,981 (GRCm39)	N468S	probably damaging	Het
Gucy1a2	G	T	9: 3,634,471 (GRCm39)	G172C	probably damaging	Het
Hmcn1	A	C	1: 150,551,725 (GRCm39)		probably null	Het
Hydin	G	A	8: 111,325,591 (GRCm39)	V4667M	possibly damaging	Het
Idh2	T	C	7: 79,745,418 (GRCm39)	S408G	probably benign	Het
Kcng4	T	C	8: 120,359,821 (GRCm39)	Q185R	probably benign	Het
Lamp3	A	G	16: 19,494,802 (GRCm39)	V301A	probably damaging	Het
Lrrc41	T	A	4: 115,946,032 (GRCm39)	M249K	possibly damaging	Het
Ltbp4	T	A	7: 27,010,074 (GRCm39)	D1162V	probably damaging	Het
Mlh1	T	C	9: 111,082,037 (GRCm39)	I229V	probably benign	Het
Or1o11	T	C	17: 37,756,925 (GRCm39)	L160P	probably damaging	Het
Pgap6	A	G	17: 26,338,094 (GRCm39)	Y466C	probably damaging	Het
Plekhg2	T	A	7: 28,062,342 (GRCm39)	D525V	probably damaging	Het
Plin4	T	C	17: 56,412,108 (GRCm39)	K641R	probably damaging	Het
Plxnb2	A	G	15: 89,045,425 (GRCm39)		probably null	Het
Polr1a	T	C	6: 71,908,680 (GRCm39)	S502P	possibly damaging	Het
Prss16	A	G	13: 22,187,220 (GRCm39)	V450A	probably benign	Het
Prss42	G	A	9: 110,628,458 (GRCm39)	V201M	probably damaging	Het
Pus7	A	T	5: 23,959,554 (GRCm39)	N322K	probably damaging	Het
Riok1	G	T	13: 38,224,041 (GRCm39)		probably benign	Het
Rmdn3	T	A	2: 118,984,561 (GRCm39)	T64S	probably benign	Het
Rmnd5a	T	A	6: 71,391,798 (GRCm39)	M131L	probably benign	Het
Rtbdn	C	T	8: 85,681,718 (GRCm39)	R170C	probably damaging	Het
Sesn3	T	C	9: 14,226,030 (GRCm39)		probably null	Het
Slc2a6	A	G	2: 26,914,305 (GRCm39)	Y271H	probably benign	Het
Slc5a5	T	G	8: 71,345,161 (GRCm39)	T49P	probably damaging	Het
Slc7a10	T	C	7: 34,894,593 (GRCm39)	V84A	possibly damaging	Het
Slc9a4	A	G	1: 40,623,204 (GRCm39)	T148A	possibly damaging	Het
Smg1	T	A	7: 117,767,178 (GRCm39)		probably benign	Het
Snx19	T	A	9: 30,339,660 (GRCm39)	V266E	probably damaging	Het
Synm	T	A	7: 67,384,804 (GRCm39)	I511F	probably damaging	Het
Tango6	T	A	8: 107,468,642 (GRCm39)		probably benign	Het
Tie1	T	A	4: 118,343,479 (GRCm39)	D128V	probably damaging	Het
Timeless	T	C	10: 128,080,120 (GRCm39)	L423P	probably damaging	Het
Tln1	A	G	4: 43,555,679 (GRCm39)	L145P	probably damaging	Het
Trp53i13	A	T	11: 77,399,121 (GRCm39)	D376E	probably damaging	Het
Ubr4	A	T	4: 139,144,642 (GRCm39)	I1484F	probably damaging	Het
Unc13a	C	T	8: 72,102,554 (GRCm39)	V943M	probably damaging	Het
Usp50	T	C	2: 126,611,822 (GRCm39)	K301R	probably damaging	Het
Vmn1r62	G	T	7: 5,679,202 (GRCm39)	M294I	probably benign	Het
Vps39	A	G	2: 120,153,652 (GRCm39)		probably benign	Het
Vwa8	T	A	14: 79,341,140 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,096,438 (GRCm39)	W748R	possibly damaging	Het

Other mutations in Lrrc23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Lrrc23	APN	6	124,755,889 (GRCm39)	missense	probably damaging	1.00
IGL01123:Lrrc23	APN	6	124,755,782 (GRCm39)	missense	probably benign	0.04
IGL02429:Lrrc23	APN	6	124,755,130 (GRCm39)	missense	probably damaging	0.99
R0440:Lrrc23	UTSW	6	124,747,667 (GRCm39)	missense	probably benign	0.00
R0637:Lrrc23	UTSW	6	124,755,321 (GRCm39)	unclassified	probably benign
R1055:Lrrc23	UTSW	6	124,755,114 (GRCm39)	missense	probably damaging	1.00
R1125:Lrrc23	UTSW	6	124,753,145 (GRCm39)	missense	probably benign	0.06
R1531:Lrrc23	UTSW	6	124,753,077 (GRCm39)	missense	possibly damaging	0.91
R4156:Lrrc23	UTSW	6	124,747,804 (GRCm39)	nonsense	probably null
R4838:Lrrc23	UTSW	6	124,755,152 (GRCm39)	missense	probably benign	0.16
R5296:Lrrc23	UTSW	6	124,751,445 (GRCm39)	missense	probably damaging	0.98
R7211:Lrrc23	UTSW	6	124,755,152 (GRCm39)	missense	probably benign	0.16
R7426:Lrrc23	UTSW	6	124,756,088 (GRCm39)	missense	unknown
R7488:Lrrc23	UTSW	6	124,756,075 (GRCm39)	missense	unknown
R7583:Lrrc23	UTSW	6	124,756,541 (GRCm39)	start gained	probably benign
R7829:Lrrc23	UTSW	6	124,747,711 (GRCm39)	missense	probably benign	0.00
R8289:Lrrc23	UTSW	6	124,755,267 (GRCm39)	missense	probably damaging	1.00
R8726:Lrrc23	UTSW	6	124,753,043 (GRCm39)	missense	probably benign	0.03
R9196:Lrrc23	UTSW	6	124,755,189 (GRCm39)	missense	possibly damaging	0.77
R9384:Lrrc23	UTSW	6	124,755,189 (GRCm39)	missense	possibly damaging	0.77

Posted On

2015-12-18