Mutagenetix > Incidental Mutation

Incidental Mutation 'R6845:Lgi4'

534714

Institutional Source

Beutler Lab

Gene Symbol

Lgi4

Ensembl Gene

ENSMUSG00000036560

Gene Name

leucine-rich repeat LGI family, member 4

Synonyms

clp

MMRRC Submission

044951-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6845 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30758767-30770360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30760510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 22 (T22S)

Ref Sequence

ENSEMBL: ENSMUSP00000145660 (fasta)

Gene Model

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

AlphaFold

Q8K1S1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039775
AA Change: T84S

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000041579
Gene: ENSMUSG00000036560
AA Change: T84S

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

unknown
Transcript: ENSMUST00000164725
AA Change: H9L

Predicted Effect

probably damaging
Transcript: ENSMUST00000169785
AA Change: T22S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000172001

SMART Domains

Protein: ENSMUSP00000125865
Gene: ENSMUSG00000036560

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

Meta Mutation Damage Score

0.0859

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

95% (53/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	C	A	3: 59,659,539 (GRCm39)	P331T	probably damaging	Het
Adam6a	T	C	12: 113,507,717 (GRCm39)	L30P	possibly damaging	Het
Cabin1	G	A	10: 75,557,342 (GRCm39)	R1099W	probably damaging	Het
Cdon	C	T	9: 35,398,252 (GRCm39)	Q990*	probably null	Het
Cit	T	A	5: 116,122,947 (GRCm39)	L1421Q	probably damaging	Het
Cplane1	T	C	15: 8,251,388 (GRCm39)	S1887P	possibly damaging	Het
Ddx27	T	C	2: 166,864,016 (GRCm39)	C242R	probably damaging	Het
Dlgap5	A	T	14: 47,654,020 (GRCm39)	V3E	possibly damaging	Het
Dnah6	A	T	6: 73,110,525 (GRCm39)	F1687I	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Duoxa1	A	T	2: 122,135,672 (GRCm39)	Y142*	probably null	Het
F3	A	G	3: 121,526,124 (GRCm39)	K229R	probably benign	Het
Fance	A	G	17: 28,536,565 (GRCm39)	R42G	probably damaging	Het
Foxs1	T	C	2: 152,774,619 (GRCm39)	K145E	probably benign	Het
Gpd1l	T	C	9: 114,762,785 (GRCm39)	M1V	probably null	Het
Gpr149	T	A	3: 62,511,942 (GRCm39)	H19L	possibly damaging	Het
Hmgcs1	T	C	13: 120,162,674 (GRCm39)	Y213H	probably damaging	Het
Htra1	C	A	7: 130,538,021 (GRCm39)		probably benign	Het
Il20ra	A	G	10: 19,635,059 (GRCm39)	I433M	probably benign	Het
Il3ra	G	C	14: 14,346,517 (GRCm38)		probably null	Het
Kif11	C	T	19: 37,392,565 (GRCm39)	L499F	probably damaging	Het
Kifc3	A	G	8: 95,835,307 (GRCm39)	M189T	probably benign	Het
Klk1b3	G	A	7: 43,851,127 (GRCm39)	A187T	probably benign	Het
Klre1	T	C	6: 129,561,202 (GRCm39)	S188P	probably damaging	Het
Krtap4-13	G	A	11: 99,700,192 (GRCm39)		probably benign	Het
Lrp10	C	T	14: 54,707,145 (GRCm39)	R661C	probably damaging	Het
Lrrtm1	A	G	6: 77,220,864 (GRCm39)	D107G	probably benign	Het
Mad1l1	C	A	5: 139,994,924 (GRCm39)	A701S	probably damaging	Het
Mia2	T	A	12: 59,231,064 (GRCm39)	Y1237*	probably null	Het
Mpp4	T	C	1: 59,183,963 (GRCm39)	D278G	probably benign	Het
Myh6	G	A	14: 55,182,206 (GRCm39)	S1734L	probably benign	Het
Nbeal1	C	T	1: 60,320,469 (GRCm39)	R2021*	probably null	Het
Nol4l	T	C	2: 153,258,582 (GRCm39)	T602A	probably benign	Het
Or5b109	T	A	19: 13,211,997 (GRCm39)	C128S	probably damaging	Het
Pcdh15	A	T	10: 74,466,465 (GRCm39)	H894L	probably benign	Het
Phldb1	A	T	9: 44,627,359 (GRCm39)	I362N	probably damaging	Het
Plcxd2	T	A	16: 45,830,223 (GRCm39)		probably benign	Het
Ppp1r13l	G	T	7: 19,105,323 (GRCm39)	R365L	probably damaging	Het
Pramel16	T	C	4: 143,676,394 (GRCm39)	T237A	probably benign	Het
Rfc1	A	T	5: 65,468,459 (GRCm39)	S85T	possibly damaging	Het
Rnf133	A	G	6: 23,649,341 (GRCm39)	V196A	possibly damaging	Het
Shank3	T	C	15: 89,432,528 (GRCm39)	V1016A	probably benign	Het
Slc22a21	T	C	11: 53,870,466 (GRCm39)	D73G	probably benign	Het
Slc34a2	T	A	5: 53,226,511 (GRCm39)	F545I	probably damaging	Het
Slc4a7	T	A	14: 14,775,000 (GRCm38)	M810K	probably damaging	Het
Ss18	A	T	18: 14,788,221 (GRCm39)	M83K	possibly damaging	Het
Tkfc	T	C	19: 10,576,696 (GRCm39)	R94G	probably damaging	Het
Tpp2	T	A	1: 44,017,668 (GRCm39)	C757*	probably null	Het
Trav13n-4	T	C	14: 53,599,856 (GRCm39)	L11P	probably damaging	Het
Trpm4	T	C	7: 44,971,753 (GRCm39)	M138V	possibly damaging	Het
Utp18	G	A	11: 93,776,582 (GRCm39)		probably benign	Het
Vps33a	A	G	5: 123,673,335 (GRCm39)	V417A	probably benign	Het
Zfp207	C	T	11: 80,286,317 (GRCm39)		probably benign	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
R0060:Lgi4	UTSW	7	30,762,996 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- TATGCATGGGGCTTTTCAGAC -3'
(R):5'- TTACTTCTGACCTGAGCTGC -3'

Sequencing Primer
(F):5'- TTTCAGACACCTGTGAGGAC -3'
(R):5'- TAGGAGCCTACCATTGTCCAG -3'

Posted On

2018-09-12