Mutagenetix > Incidental Mutation

Incidental Mutation 'R9239:Lratd1'

700646

Institutional Source

Beutler Lab

Gene Symbol

Lratd1

Ensembl Gene

ENSMUSG00000020607

Gene Name

LRAT domain containing 1

Synonyms

Fam84a, 4731402F03Rik, 2310003N02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R9239 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14197599-14202039 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14200185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 181 (W181R)

Ref Sequence

ENSEMBL: ENSMUSP00000020926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020926] [ENSMUST00000221405]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020926
AA Change: W181R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020926
Gene: ENSMUSG00000020607
AA Change: W181R

Domain	Start	End	E-Value	Type
low complexity region	57	69	N/A	INTRINSIC
low complexity region	71	81	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000221405

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	A	G	2: 164,646,608 (GRCm39)		probably null	Het
Aldh1l2	A	G	10: 83,342,496 (GRCm39)	F438S	probably damaging	Het
Alk	T	A	17: 72,256,864 (GRCm39)	N665I	probably benign	Het
Anxa4	T	A	6: 86,734,812 (GRCm39)	T59S	probably benign	Het
B3gnt8	ACCCC	ACCC	7: 25,327,676 (GRCm39)		probably null	Het
Cabs1	G	A	5: 88,127,385 (GRCm39)	R12Q	probably benign	Het
Cep152	A	G	2: 125,425,830 (GRCm39)	V845A	probably benign	Het
Dipk1a	T	C	5: 108,059,572 (GRCm39)	E127G	possibly damaging	Het
Dsg1a	T	A	18: 20,473,750 (GRCm39)	V941E	probably damaging	Het
Fbxo11	G	T	17: 88,316,522 (GRCm39)	H284N		Het
Fubp1	A	G	3: 151,923,486 (GRCm39)	E98G	probably damaging	Het
Fyco1	A	G	9: 123,626,637 (GRCm39)	I1358T	probably damaging	Het
Ginm1	T	C	10: 7,649,825 (GRCm39)	N156S	possibly damaging	Het
Gm3739	T	C	14: 18,505,221 (GRCm39)	Y101C	probably damaging	Het
Ide	T	C	19: 37,307,898 (GRCm39)	N38S		Het
Itgb4	T	C	11: 115,898,130 (GRCm39)	V1644A	probably damaging	Het
Itpka	A	G	2: 119,580,023 (GRCm39)	D254G	probably damaging	Het
Kat7	T	A	11: 95,197,020 (GRCm39)	R6S	probably benign	Het
Klhl40	A	T	9: 121,607,637 (GRCm39)	T266S	probably benign	Het
Mmaa	T	C	8: 79,995,856 (GRCm39)	D289G	probably damaging	Het
Muc5ac	A	T	7: 141,353,954 (GRCm39)	D851V	probably damaging	Het
Or1e29	A	G	11: 73,667,346 (GRCm39)	V269A	probably benign	Het
Or52n4	G	T	7: 104,293,746 (GRCm39)	H278N	probably damaging	Het
Or6b3	T	C	1: 92,439,454 (GRCm39)	T99A	probably benign	Het
Pcdh17	T	G	14: 84,770,649 (GRCm39)	I1042M	probably benign	Het
Pipox	A	G	11: 77,774,765 (GRCm39)	I106T	probably benign	Het
Ppcs	C	T	4: 119,276,235 (GRCm39)	V290M	possibly damaging	Het
Rnasel	T	A	1: 153,630,097 (GRCm39)	N204K	probably damaging	Het
Runx1	A	G	16: 92,402,935 (GRCm39)	Y336H	probably damaging	Het
Sell	A	G	1: 163,893,176 (GRCm39)	I131V	possibly damaging	Het
Serpina3f	A	G	12: 104,184,710 (GRCm39)	R285G	possibly damaging	Het
Slc25a2	A	T	18: 37,771,169 (GRCm39)	M120K	possibly damaging	Het
Slc47a1	A	T	11: 61,250,344 (GRCm39)		probably null	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Spats2l	A	G	1: 57,871,257 (GRCm39)		probably benign	Het
Spopfm1	T	A	3: 94,173,871 (GRCm39)	V289E	probably benign	Het
Taf1b	T	A	12: 24,606,015 (GRCm39)	L431H	probably damaging	Het
Tectb	CT	C	19: 55,181,094 (GRCm39)		probably null	Het
Thsd7b	G	A	1: 130,087,453 (GRCm39)		probably null	Het
Tmtc4	A	G	14: 123,165,078 (GRCm39)	Y594H	possibly damaging	Het
Trim33	T	C	3: 103,237,453 (GRCm39)	F599L	probably benign	Het
Vcl	A	G	14: 21,072,092 (GRCm39)	D819G	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r1	G	T	3: 64,011,959 (GRCm39)	V607L	probably damaging	Het

Other mutations in Lratd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00910:Lratd1	APN	12	14,200,527 (GRCm39)	missense	probably benign	0.14
IGL01446:Lratd1	APN	12	14,199,929 (GRCm39)	missense	probably damaging	1.00
IGL02684:Lratd1	APN	12	14,200,646 (GRCm39)	missense	probably damaging	0.97
Grade	UTSW	12	14,199,864 (GRCm39)	missense	probably damaging	0.99
R1514:Lratd1	UTSW	12	14,199,864 (GRCm39)	missense	probably damaging	0.99
R1583:Lratd1	UTSW	12	14,200,409 (GRCm39)	missense	probably benign	0.25
R1800:Lratd1	UTSW	12	14,200,226 (GRCm39)	missense	probably damaging	0.98
R6074:Lratd1	UTSW	12	14,200,512 (GRCm39)	missense	probably benign	0.06
R6259:Lratd1	UTSW	12	14,200,646 (GRCm39)	missense	probably damaging	0.99
R7169:Lratd1	UTSW	12	14,200,619 (GRCm39)	missense	probably damaging	0.99
R9649:Lratd1	UTSW	12	14,200,190 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTTTGAGATAATACTGCTGTTGCG -3'
(R):5'- TTGAGTGTCTACGCGGTCAC -3'

Sequencing Primer
(F):5'- AGTTCGTCCAGCAGATCT -3'
(R):5'- ATCTGCGAGCCAGGCGAC -3'

Posted On

2022-02-07