Mutagenetix > Incidental Mutation

Incidental Mutation 'R0060:Lgi4'

17028

Institutional Source

Beutler Lab

Gene Symbol

Lgi4

Ensembl Gene

ENSMUSG00000036560

Gene Name

leucine-rich repeat LGI family, member 4

Synonyms

clp

MMRRC Submission

038353-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0060 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

30758767-30770360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30762996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 157 (G157D)

Ref Sequence

ENSEMBL: ENSMUSP00000041579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039775] [ENSMUST00000164725] [ENSMUST00000167369] [ENSMUST00000169785]

AlphaFold

Q8K1S1

Predicted Effect

probably damaging
Transcript: ENSMUST00000039775
AA Change: G157D

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041579
Gene: ENSMUSG00000036560
AA Change: G157D

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	49	59	N/A	INTRINSIC
LRR	75	98	7.17e1	SMART
LRR	99	122	2.76e1	SMART
LRR_TYP	123	146	2.43e-4	SMART
LRRCT	158	207	3.97e-5	SMART
Pfam:EPTP	214	251	1.1e-7	PFAM
Pfam:EPTP	396	438	2.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164725

Predicted Effect

probably benign
Transcript: ENSMUST00000167369

SMART Domains

Protein: ENSMUSP00000130245
Gene: ENSMUSG00000057092

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ATP1G1_PLM_MAT8	25	71	5.5e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169785

Predicted Effect

unknown
Transcript: ENSMUST00000172001
AA Change: G7D

SMART Domains

Protein: ENSMUSP00000125865
Gene: ENSMUSG00000036560
AA Change: G7D

Domain	Start	End	E-Value	Type
LRRCT	9	58	3.97e-5	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 90.4%
3x: 88.3%
10x: 83.8%
20x: 78.1%

Validation Efficiency

94% (74/79)

MGI Phenotype

PHENOTYPE: Homozygous mutant animals have an abnormal posture where the forelimbs are flexed and rotated inwards. The peripheral nervous system is delayed in myelination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	C	11: 58,313,008 (GRCm39)		probably benign	Het
4930432E11Rik	A	G	7: 29,273,595 (GRCm39)		noncoding transcript	Het
A630091E08Rik	A	G	7: 98,192,875 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,961,306 (GRCm39)	T539A	probably damaging	Het
Adam34	A	T	8: 44,128,920 (GRCm39)		probably benign	Het
Ankrd60	A	T	2: 173,414,406 (GRCm39)	M1K	probably null	Het
Cald1	T	C	6: 34,692,394 (GRCm39)		probably benign	Het
Capn7	T	C	14: 31,087,561 (GRCm39)		probably benign	Het
Cd109	G	A	9: 78,610,389 (GRCm39)	E1145K	probably damaging	Het
Celsr1	A	T	15: 85,806,399 (GRCm39)	V2353D	probably damaging	Het
Cep135	A	T	5: 76,769,197 (GRCm39)	I616F	probably benign	Het
Cep162	T	A	9: 87,119,878 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,804,372 (GRCm39)	D904N	probably damaging	Het
Cep85	T	C	4: 133,894,611 (GRCm39)	D65G	probably damaging	Het
Cfdp1	T	C	8: 112,566,986 (GRCm39)		probably benign	Het
Chl1	T	A	6: 103,688,019 (GRCm39)		probably benign	Het
Colec10	G	A	15: 54,302,542 (GRCm39)		probably benign	Het
Crxos	A	G	7: 15,632,448 (GRCm39)	T40A	possibly damaging	Het
Dnhd1	A	G	7: 105,317,721 (GRCm39)	D472G	probably damaging	Het
Dpp6	C	A	5: 27,803,817 (GRCm39)	N254K	probably damaging	Het
Eps8l3	T	C	3: 107,786,857 (GRCm39)	L11S	probably damaging	Het
Flad1	G	A	3: 89,309,552 (GRCm39)	R515*	probably null	Het
Fzd5	T	C	1: 64,774,835 (GRCm39)	T309A	probably benign	Het
Gm19685	T	C	17: 61,075,418 (GRCm39)			Het
Gsdme	A	G	6: 50,198,009 (GRCm39)	I317T	possibly damaging	Het
H2bc1	A	T	13: 24,117,928 (GRCm39)	I71N	possibly damaging	Het
Incenp	A	G	19: 9,862,823 (GRCm39)		probably benign	Het
Itgad	T	C	7: 127,802,158 (GRCm39)	S979P	probably damaging	Het
Kat2b	T	C	17: 53,961,571 (GRCm39)	V557A	probably damaging	Het
Lamc1	A	T	1: 153,117,614 (GRCm39)		probably benign	Het
Mga	T	C	2: 119,791,442 (GRCm39)		probably null	Het
Nubpl	T	C	12: 52,357,470 (GRCm39)		probably benign	Het
Or2b4	T	C	17: 38,116,891 (GRCm39)	L285P	probably damaging	Het
Or5be3	T	C	2: 86,864,118 (GRCm39)	Y149C	probably damaging	Het
Or8c20	C	T	9: 38,260,808 (GRCm39)	S143F	probably benign	Het
Peak1	A	T	9: 56,135,107 (GRCm39)	I78K	probably damaging	Het
Prune2	T	A	19: 16,981,097 (GRCm39)	F85I	probably damaging	Het
Rbm11	G	T	16: 75,395,667 (GRCm39)	D113Y	probably damaging	Het
Rif1	C	T	2: 52,001,129 (GRCm39)	R1528C	probably damaging	Het
Sema4d	A	G	13: 51,859,293 (GRCm39)		probably benign	Het
Slc30a4	T	A	2: 122,527,104 (GRCm39)	T381S	probably benign	Het
Slf2	G	T	19: 44,936,443 (GRCm39)	G696V	probably damaging	Het
Suv39h2	T	C	2: 3,465,953 (GRCm39)	Y134C	probably damaging	Het
Tmem273	C	A	14: 32,528,726 (GRCm39)		probably benign	Het
Tmem89	T	A	9: 108,744,485 (GRCm39)	V126D	probably damaging	Het
Trf	T	C	9: 103,098,121 (GRCm39)	T46A	probably benign	Het
Trmt6	C	T	2: 132,648,689 (GRCm39)	R415Q	possibly damaging	Het
Trp53bp1	T	C	2: 121,035,006 (GRCm39)	K1625E	probably damaging	Het
Usp6nl	T	A	2: 6,445,701 (GRCm39)	D559E	probably benign	Het
Wdr75	A	G	1: 45,855,777 (GRCm39)	D476G	probably benign	Het
Wrap53	A	C	11: 69,454,256 (GRCm39)	L261V	possibly damaging	Het
Zcchc4	T	A	5: 52,964,420 (GRCm39)	I292N	possibly damaging	Het

Other mutations in Lgi4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Lgi4	APN	7	30,768,468 (GRCm39)	missense	probably benign	0.01
IGL01624:Lgi4	APN	7	30,767,113 (GRCm39)	missense	probably damaging	1.00
IGL02251:Lgi4	APN	7	30,766,688 (GRCm39)	splice site	probably null
IGL02755:Lgi4	APN	7	30,762,530 (GRCm39)	missense	probably damaging	1.00
IGL03153:Lgi4	APN	7	30,759,983 (GRCm39)	missense	probably damaging	1.00
IGL03392:Lgi4	APN	7	30,762,605 (GRCm39)	splice site	probably null
R0575:Lgi4	UTSW	7	30,759,518 (GRCm39)	missense	probably benign	0.12
R2139:Lgi4	UTSW	7	30,762,548 (GRCm39)	missense	probably damaging	1.00
R2276:Lgi4	UTSW	7	30,760,037 (GRCm39)	missense	probably damaging	1.00
R2277:Lgi4	UTSW	7	30,760,037 (GRCm39)	missense	probably damaging	1.00
R2278:Lgi4	UTSW	7	30,760,037 (GRCm39)	missense	probably damaging	1.00
R2939:Lgi4	UTSW	7	30,767,253 (GRCm39)	nonsense	probably null
R3039:Lgi4	UTSW	7	30,759,492 (GRCm39)	missense	probably benign
R3922:Lgi4	UTSW	7	30,766,873 (GRCm39)	missense	probably benign
R4650:Lgi4	UTSW	7	30,768,554 (GRCm39)	missense	probably benign	0.38
R5184:Lgi4	UTSW	7	30,770,182 (GRCm39)	unclassified	probably benign
R5583:Lgi4	UTSW	7	30,760,562 (GRCm39)	missense	possibly damaging	0.92
R5837:Lgi4	UTSW	7	30,770,208 (GRCm39)	unclassified	probably benign
R5917:Lgi4	UTSW	7	30,759,603 (GRCm39)	missense	possibly damaging	0.76
R6198:Lgi4	UTSW	7	30,768,547 (GRCm39)	splice site	probably null
R6454:Lgi4	UTSW	7	30,759,557 (GRCm39)	missense	probably benign
R6845:Lgi4	UTSW	7	30,760,510 (GRCm39)	missense	probably damaging	0.99
R6897:Lgi4	UTSW	7	30,768,315 (GRCm39)	missense	probably benign	0.00
R7232:Lgi4	UTSW	7	30,766,776 (GRCm39)	missense	possibly damaging	0.67
R7354:Lgi4	UTSW	7	30,760,047 (GRCm39)	missense	probably damaging	1.00
R8224:Lgi4	UTSW	7	30,763,017 (GRCm39)	missense	probably damaging	1.00
R8257:Lgi4	UTSW	7	30,766,766 (GRCm39)	critical splice acceptor site	probably null
R8320:Lgi4	UTSW	7	30,768,366 (GRCm39)	missense	probably benign	0.14
R8440:Lgi4	UTSW	7	30,760,049 (GRCm39)	critical splice donor site	probably null
R8469:Lgi4	UTSW	7	30,767,065 (GRCm39)	missense	probably damaging	1.00
R9066:Lgi4	UTSW	7	30,759,446 (GRCm39)	start codon destroyed	probably benign
R9763:Lgi4	UTSW	7	30,760,020 (GRCm39)	missense	probably damaging	1.00
Z1186:Lgi4	UTSW	7	30,768,596 (GRCm39)	missense	probably benign	0.09

Posted On

2013-01-20