Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02750:Lrrc28'

306251

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc28

Ensembl Gene

ENSMUSG00000030556

Gene Name

leucine rich repeat containing 28

Synonyms

2310058O11Rik, 2210012C09Rik, 1300004K21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL02750

Quality Score

Status

Chromosome

Chromosomal Location

67163158-67295016 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67181431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 268 (D268G)

Ref Sequence

ENSEMBL: ENSMUSP00000052177 (fasta)

Gene Model

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

AlphaFold

Q3TX51

Predicted Effect

probably damaging
Transcript: ENSMUST00000053950
AA Change: D268G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052177
Gene: ENSMUSG00000030556
AA Change: D268G

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

noncoding transcript
Transcript: ENSMUST00000185818

Predicted Effect

probably benign
Transcript: ENSMUST00000187953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190770

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191062

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	T	C	9: 14,460,087 (GRCm39)	K884R	probably benign	Het
Ano3	T	A	2: 110,496,329 (GRCm39)		probably benign	Het
Baz2b	C	A	2: 59,799,002 (GRCm39)	S374I	possibly damaging	Het
Brd4	G	A	17: 32,417,353 (GRCm39)		probably benign	Het
Cd3g	C	A	9: 44,882,608 (GRCm39)		probably benign	Het
Ckmt1	C	T	2: 121,194,096 (GRCm39)		probably benign	Het
Clcnkb	T	C	4: 141,132,673 (GRCm39)		probably null	Het
Dkkl1	C	T	7: 44,859,536 (GRCm39)		probably null	Het
Ehmt1	G	A	2: 24,753,881 (GRCm39)	T161I	probably damaging	Het
Ern2	A	G	7: 121,780,629 (GRCm39)		probably benign	Het
Fmnl2	T	C	2: 52,993,709 (GRCm39)	I368T	possibly damaging	Het
Gabra5	G	T	7: 57,157,739 (GRCm39)	S25Y	probably benign	Het
Gemin7	C	T	7: 19,299,344 (GRCm39)	V84M	probably null	Het
Gm17654	A	G	14: 43,815,656 (GRCm39)		probably benign	Het
Grk6	T	C	13: 55,599,356 (GRCm39)	F186S	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,731 (GRCm39)	H663R	probably damaging	Het
Gtf3c1	T	A	7: 125,275,684 (GRCm39)	I581F	probably damaging	Het
Herc2	T	A	7: 55,854,127 (GRCm39)		probably benign	Het
Hook3	A	T	8: 26,585,782 (GRCm39)		probably benign	Het
Ints4	T	A	7: 97,166,964 (GRCm39)		probably null	Het
Kpna6	T	C	4: 129,555,170 (GRCm39)	N20D	probably damaging	Het
Krtap29-1	T	C	11: 99,869,510 (GRCm39)	S124G	probably benign	Het
Krtap4-16	C	A	11: 99,742,106 (GRCm39)	R98L	possibly damaging	Het
Mcm6	T	A	1: 128,271,209 (GRCm39)	Q470L	probably damaging	Het
Neb	T	C	2: 52,181,067 (GRCm39)	H1180R	probably benign	Het
Nxpe3	C	A	16: 55,680,738 (GRCm39)	V285L	probably benign	Het
Or10al2	T	A	17: 37,983,500 (GRCm39)	C195*	probably null	Het
Or14a260	T	A	7: 85,984,752 (GRCm39)	N284I	probably damaging	Het
Or4k37	A	G	2: 111,159,633 (GRCm39)	R290G	probably damaging	Het
Pdcd1	A	G	1: 93,967,269 (GRCm39)		probably benign	Het
Pnkp	A	G	7: 44,509,611 (GRCm39)		probably benign	Het
Pou4f2	A	T	8: 79,161,692 (GRCm39)	F304I	probably damaging	Het
Rita1	G	A	5: 120,747,716 (GRCm39)	T194M	possibly damaging	Het
Rnpc3	T	C	3: 113,415,588 (GRCm39)	T150A	possibly damaging	Het
Sema3b	T	C	9: 107,480,363 (GRCm39)	T168A	probably benign	Het
Skint5	T	A	4: 113,396,559 (GRCm39)	M1205L	unknown	Het
Sox13	A	C	1: 133,311,534 (GRCm39)	I566S	probably benign	Het
Tbc1d32	T	C	10: 56,074,587 (GRCm39)	T209A	possibly damaging	Het
Tonsl	G	T	15: 76,517,589 (GRCm39)	P710Q	probably damaging	Het
Trpm5	T	C	7: 142,628,221 (GRCm39)	H1018R	possibly damaging	Het
Ubr2	A	T	17: 47,280,208 (GRCm39)	M647K	probably benign	Het
Ubr7	A	T	12: 102,737,537 (GRCm39)	T395S	possibly damaging	Het
Uri1	G	A	7: 37,666,906 (GRCm39)	R176*	probably null	Het
Vmn1r188	A	T	13: 22,272,900 (GRCm39)	I285F	probably damaging	Het
Vmn2r116	T	A	17: 23,616,608 (GRCm39)		probably benign	Het
Vmn2r2	C	A	3: 64,024,823 (GRCm39)	C586F	probably damaging	Het
Vmn2r96	T	A	17: 18,802,851 (GRCm39)	W62R	probably benign	Het
Zfp24	A	T	18: 24,150,410 (GRCm39)	S167T	possibly damaging	Het
Zfp462	A	G	4: 55,060,236 (GRCm39)	K1254R	probably null	Het

Other mutations in Lrrc28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Lrrc28	APN	7	67,278,042 (GRCm39)	critical splice donor site	probably null
IGL01583:Lrrc28	APN	7	67,195,223 (GRCm39)	splice site	probably null
IGL02033:Lrrc28	APN	7	67,209,605 (GRCm39)	critical splice donor site	probably null
IGL02483:Lrrc28	APN	7	67,267,731 (GRCm39)	splice site	probably benign
BB002:Lrrc28	UTSW	7	67,268,857 (GRCm39)	missense	probably damaging	1.00
BB012:Lrrc28	UTSW	7	67,268,857 (GRCm39)	missense	probably damaging	1.00
R0549:Lrrc28	UTSW	7	67,278,090 (GRCm39)	splice site	probably benign
R0563:Lrrc28	UTSW	7	67,195,135 (GRCm39)	missense	probably damaging	1.00
R0650:Lrrc28	UTSW	7	67,267,833 (GRCm39)	missense	probably damaging	1.00
R0652:Lrrc28	UTSW	7	67,267,833 (GRCm39)	missense	probably damaging	1.00
R1557:Lrrc28	UTSW	7	67,209,677 (GRCm39)	missense	probably damaging	1.00
R1820:Lrrc28	UTSW	7	67,290,859 (GRCm39)	missense	probably damaging	0.98
R2149:Lrrc28	UTSW	7	67,181,430 (GRCm39)	missense	probably damaging	0.96
R2185:Lrrc28	UTSW	7	67,195,201 (GRCm39)	missense	possibly damaging	0.70
R4479:Lrrc28	UTSW	7	67,181,362 (GRCm39)	critical splice donor site	probably null
R5205:Lrrc28	UTSW	7	67,181,516 (GRCm39)	missense	probably benign	0.00
R7008:Lrrc28	UTSW	7	67,245,459 (GRCm39)	intron	probably benign
R7925:Lrrc28	UTSW	7	67,268,857 (GRCm39)	missense	probably damaging	1.00
R8323:Lrrc28	UTSW	7	67,245,455 (GRCm39)	missense	unknown
R8360:Lrrc28	UTSW	7	67,290,909 (GRCm39)	missense	probably benign	0.01
R8898:Lrrc28	UTSW	7	67,278,042 (GRCm39)	critical splice donor site	probably null
R8919:Lrrc28	UTSW	7	67,268,833 (GRCm39)	missense	possibly damaging	0.88
R9412:Lrrc28	UTSW	7	67,181,512 (GRCm39)	missense	probably damaging	1.00
Z1088:Lrrc28	UTSW	7	67,179,379 (GRCm39)	missense	possibly damaging	0.89

Posted On

2015-04-16