Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01548:Lrrc28'

93243

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc28

Ensembl Gene

ENSMUSG00000030556

Gene Name

leucine rich repeat containing 28

Synonyms

2210012C09Rik, 1300004K21Rik, 2310058O11Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01548

Quality Score

Status

Chromosome

Chromosomal Location

67513410-67645268 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 67628294 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032775] [ENSMUST00000053950] [ENSMUST00000187953] [ENSMUST00000189836] [ENSMUST00000190276] [ENSMUST00000191035]

AlphaFold

Q3TX51

Predicted Effect

probably null
Transcript: ENSMUST00000032775

SMART Domains

Protein: ENSMUSP00000032775
Gene: ENSMUSG00000030556

Domain	Start	End	E-Value	Type
LRR	40	63	1.33e-1	SMART
LRR	64	86	3.24e0	SMART
LRR	87	109	1.06e1	SMART
LRR_TYP	110	132	7.78e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000053950

SMART Domains

Protein: ENSMUSP00000052177
Gene: ENSMUSG00000030556

Domain	Start	End	E-Value	Type
LRR	40	63	1.33e-1	SMART
LRR	64	86	3.24e0	SMART
LRR	87	109	1.06e1	SMART
LRR_TYP	110	132	6.67e-2	SMART
LRR	133	156	6.4e0	SMART
LRR	179	202	1.64e-1	SMART
low complexity region	304	318	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187953

Predicted Effect

probably null
Transcript: ENSMUST00000189836

SMART Domains

Protein: ENSMUSP00000139606
Gene: ENSMUSG00000030556

Domain	Start	End	E-Value	Type
Pfam:LRR_1	42	64	5.5e-2	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000190276

SMART Domains

Protein: ENSMUSP00000140972
Gene: ENSMUSG00000030556

Domain	Start	End	E-Value	Type
LRR	40	59	3.7e-3	SMART
LRR	64	83	1.2e0	SMART
LRR	87	109	4.4e-2	SMART
LRR_TYP	110	133	2.3e-6	SMART
LRR	133	153	1.1e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191035

SMART Domains

Protein: ENSMUSP00000140382
Gene: ENSMUSG00000030556

Domain	Start	End	E-Value	Type
LRR	40	63	1.33e-1	SMART
LRR	64	86	3.24e0	SMART
LRR	87	109	1.06e1	SMART
LRR	110	132	8.09e-1	SMART

Meta Mutation Damage Score

0.9592

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot3	C	T	12: 84,057,089 (GRCm38)	T224I	probably benign	Het
Adamts18	C	T	8: 113,764,299 (GRCm38)	G512E	probably damaging	Het
Atp4b	A	G	8: 13,389,679 (GRCm38)	I181T	probably damaging	Het
Bcl11a	A	G	11: 24,163,346 (GRCm38)	I230V	probably benign	Het
Cenpj	C	A	14: 56,532,319 (GRCm38)	V1138L	probably benign	Het
Cep78	A	G	19: 15,981,200 (GRCm38)		probably benign	Het
Clec2j	T	A	6: 128,655,978 (GRCm38)		noncoding transcript	Het
Col5a3	T	C	9: 20,803,000 (GRCm38)		probably benign	Het
Cpne6	A	T	14: 55,512,726 (GRCm38)	T105S	probably damaging	Het
Csmd1	A	T	8: 16,288,646 (GRCm38)	Y482*	probably null	Het
Ctrl	C	A	8: 105,933,258 (GRCm38)		probably benign	Het
Dhcr24	T	A	4: 106,573,871 (GRCm38)	C252*	probably null	Het
Dnaaf9	T	C	2: 130,814,259 (GRCm38)	N110D	probably damaging	Het
Dnah17	G	A	11: 118,098,612 (GRCm38)	P1261S	probably benign	Het
Dnai2	T	C	11: 114,752,942 (GRCm38)	L466P	probably damaging	Het
Dync2h1	A	T	9: 7,071,922 (GRCm38)	F3036Y	probably damaging	Het
Eef1akmt2	A	C	7: 132,831,405 (GRCm38)	S191A	probably damaging	Het
Fat4	T	C	3: 38,887,758 (GRCm38)	S267P	probably damaging	Het
Fat4	G	A	3: 39,009,257 (GRCm38)	C4454Y	probably damaging	Het
Frrs1	T	C	3: 116,885,185 (GRCm38)	C219R	probably damaging	Het
Gabra6	T	A	11: 42,317,023 (GRCm38)	Q207L	probably damaging	Het
Gm19668	A	T	10: 77,798,408 (GRCm38)	C242*	probably null	Het
Gm2840	G	A	5: 96,174,277 (GRCm38)		noncoding transcript	Het
Gmcl1p1	G	A	X: 3,078,226 (GRCm38)	G423S	probably benign	Het
Golim4	C	T	3: 75,908,125 (GRCm38)		probably null	Het
Gucy1b1	G	T	3: 82,034,862 (GRCm38)	T530K	probably damaging	Het
Hacl1	A	T	14: 31,640,596 (GRCm38)	D31E	possibly damaging	Het
Hectd4	A	G	5: 121,364,660 (GRCm38)	T4276A	possibly damaging	Het
Henmt1	T	C	3: 108,942,779 (GRCm38)	I26T	probably damaging	Het
Hspa1l	G	A	17: 34,978,391 (GRCm38)	A469T	probably damaging	Het
Htra3	T	A	5: 35,664,076 (GRCm38)		probably null	Het
Mfhas1	T	C	8: 35,590,459 (GRCm38)	L696P	probably damaging	Het
Mios	A	G	6: 8,234,252 (GRCm38)	K808E	possibly damaging	Het
Mtnr1b	A	G	9: 15,863,200 (GRCm38)	Y188H	probably damaging	Het
Myom1	A	G	17: 71,101,220 (GRCm38)		probably benign	Het
Naca	A	T	10: 128,040,904 (GRCm38)		probably benign	Het
Nckap1l	T	A	15: 103,462,720 (GRCm38)	V213D	probably benign	Het
Ndufa6	C	T	15: 82,354,081 (GRCm38)	V50M	possibly damaging	Het
Or4c35	T	A	2: 89,978,539 (GRCm38)	F254I	possibly damaging	Het
Or5b111	A	G	19: 13,313,986 (GRCm38)	F100L	possibly damaging	Het
Or5g23	A	G	2: 85,608,761 (GRCm38)	W50R	probably benign	Het
Or8b56	A	G	9: 38,828,350 (GRCm38)	T220A	probably benign	Het
Or8k53	T	A	2: 86,347,733 (GRCm38)	Y11F	possibly damaging	Het
Osbpl1a	T	C	18: 12,763,575 (GRCm38)	Y311C	probably damaging	Het
Parp11	A	C	6: 127,491,599 (GRCm38)	Y204S	probably damaging	Het
Pla2g4a	A	G	1: 149,932,656 (GRCm38)		probably null	Het
Plec	T	C	15: 76,189,258 (GRCm38)	R519G	probably benign	Het
Ppp2r5c	T	A	12: 110,567,827 (GRCm38)	Y375N	probably benign	Het
Prss35	C	A	9: 86,755,274 (GRCm38)	S32R	probably benign	Het
Prss57	C	T	10: 79,785,747 (GRCm38)		probably benign	Het
Ptprc	A	C	1: 138,099,481 (GRCm38)		probably null	Het
Rims1	A	G	1: 22,538,602 (GRCm38)	C188R	probably damaging	Het
Ripk4	G	T	16: 97,751,496 (GRCm38)	Y144*	probably null	Het
Rpgrip1	A	T	14: 52,126,271 (GRCm38)		probably benign	Het
Rps6ka4	A	G	19: 6,832,323 (GRCm38)	V378A	probably benign	Het
Rtf1	A	G	2: 119,712,108 (GRCm38)	K298E	probably benign	Het
Sdk1	T	C	5: 142,085,765 (GRCm38)	F1237L	possibly damaging	Het
Slc40a1	T	C	1: 45,909,492 (GRCm38)	K543E	probably benign	Het
Slco1a8	A	G	6: 141,992,512 (GRCm38)	I227T	possibly damaging	Het
Sorcs3	A	T	19: 48,794,168 (GRCm38)	I1041F	possibly damaging	Het
Spata31e4	A	G	13: 50,700,378 (GRCm38)	T91A	probably benign	Het
Spata31f3	T	C	4: 42,868,564 (GRCm38)	E353G	probably benign	Het
Taok3	T	C	5: 117,272,197 (GRCm38)	M818T	probably benign	Het
Tas2r119	T	A	15: 32,177,977 (GRCm38)	F230I	probably damaging	Het
Tbc1d8	T	C	1: 39,381,304 (GRCm38)	D716G	probably damaging	Het
Tfg	A	G	16: 56,701,102 (GRCm38)	S58P	probably damaging	Het
Thnsl1	A	G	2: 21,213,132 (GRCm38)	I45V	probably damaging	Het
Tle1	A	G	4: 72,170,718 (GRCm38)	L96P	probably damaging	Het
Tmem260	A	C	14: 48,480,325 (GRCm38)	S276R	possibly damaging	Het
Utp20	A	G	10: 88,764,781 (GRCm38)	S24P	probably damaging	Het
Vcam1	T	C	3: 116,115,951 (GRCm38)	I576V	probably benign	Het
Vmn1r27	G	T	6: 58,215,553 (GRCm38)	N105K	probably benign	Het
Vmn2r12	A	C	5: 109,093,027 (GRCm38)	Y73*	probably null	Het
Vmn2r86	T	C	10: 130,446,282 (GRCm38)	I822V	probably benign	Het
Wdr6	C	T	9: 108,574,897 (GRCm38)	V596I	possibly damaging	Het
Zfp946	A	T	17: 22,454,662 (GRCm38)	K132N	possibly damaging	Het

Other mutations in Lrrc28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Lrrc28	APN	7	67,545,475 (GRCm38)	splice site	probably null
IGL02033:Lrrc28	APN	7	67,559,857 (GRCm38)	critical splice donor site	probably null
IGL02483:Lrrc28	APN	7	67,617,983 (GRCm38)	splice site	probably benign
IGL02750:Lrrc28	APN	7	67,531,683 (GRCm38)	missense	probably damaging	0.96
BB002:Lrrc28	UTSW	7	67,619,109 (GRCm38)	missense	probably damaging	1.00
BB012:Lrrc28	UTSW	7	67,619,109 (GRCm38)	missense	probably damaging	1.00
R0549:Lrrc28	UTSW	7	67,628,342 (GRCm38)	splice site	probably benign
R0563:Lrrc28	UTSW	7	67,545,387 (GRCm38)	missense	probably damaging	1.00
R0650:Lrrc28	UTSW	7	67,618,085 (GRCm38)	missense	probably damaging	1.00
R0652:Lrrc28	UTSW	7	67,618,085 (GRCm38)	missense	probably damaging	1.00
R1557:Lrrc28	UTSW	7	67,559,929 (GRCm38)	missense	probably damaging	1.00
R1820:Lrrc28	UTSW	7	67,641,111 (GRCm38)	missense	probably damaging	0.98
R2149:Lrrc28	UTSW	7	67,531,682 (GRCm38)	missense	probably damaging	0.96
R2185:Lrrc28	UTSW	7	67,545,453 (GRCm38)	missense	possibly damaging	0.70
R4479:Lrrc28	UTSW	7	67,531,614 (GRCm38)	critical splice donor site	probably null
R5205:Lrrc28	UTSW	7	67,531,768 (GRCm38)	missense	probably benign	0.00
R7008:Lrrc28	UTSW	7	67,595,711 (GRCm38)	intron	probably benign
R7925:Lrrc28	UTSW	7	67,619,109 (GRCm38)	missense	probably damaging	1.00
R8323:Lrrc28	UTSW	7	67,595,707 (GRCm38)	missense	unknown
R8360:Lrrc28	UTSW	7	67,641,161 (GRCm38)	missense	probably benign	0.01
R8898:Lrrc28	UTSW	7	67,628,294 (GRCm38)	critical splice donor site	probably null
R8919:Lrrc28	UTSW	7	67,619,085 (GRCm38)	missense	possibly damaging	0.88
R9412:Lrrc28	UTSW	7	67,531,764 (GRCm38)	missense	probably damaging	1.00
Z1088:Lrrc28	UTSW	7	67,529,631 (GRCm38)	missense	possibly damaging	0.89

Posted On

2013-12-09