Mutagenetix > Incidental Mutation

Incidental Mutation 'RF054:Lypd8'

605210

Institutional Source

Beutler Lab

Gene Symbol

Lypd8

Ensembl Gene

ENSMUSG00000013643

Gene Name

LY6/PLAUR domain containing 8

Synonyms

2210415F13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

RF054 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

58269869-58281365 bp(+) (GRCm39)

Type of Mutation

small insertion (12 aa in frame mutation)

DNA Base Change (assembly)

TC to TCGCCTCTGTTACCCCACAAATCACCAACACCTCCCCC at 58281077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013787] [ENSMUST00000108826]

AlphaFold

Q9D7S0

Predicted Effect

probably benign
Transcript: ENSMUST00000013787

SMART Domains

Protein: ENSMUSP00000013787
Gene: ENSMUSG00000013643

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:UPAR_LY6	23	105	3.4e-5	PFAM
Pfam:UPAR_LY6	121	197	2.3e-5	PFAM
low complexity region	199	212	N/A	INTRINSIC
low complexity region	248	254	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108826

SMART Domains

Protein: ENSMUSP00000104454
Gene: ENSMUSG00000013643

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:UPAR_LY6	23	105	1.9e-4	PFAM
Pfam:UPAR_LY6	121	197	4.9e-5	PFAM
low complexity region	199	212	N/A	INTRINSIC
low complexity region	248	254	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the Ly6/PLAUR family of cysteine-rich proteins that plays an important role in the protection of colonic epithelium from flagellated microbiota. The encoded protein undergoes proteolytic processing to generate a mature, glycosylphosphatidylinositol-anchored protein that is localized to the apical surface of the colonic epithelial cells. Mice lacking the encoded protein are sensitive to chemically induced intestinal inflammation. [provided by RefSeq, Aug 2016]
PHENOTYPE: No notable phenotype was detected in a high throughput screen of homozygous mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
Ankhd1	CGGC	CGGCGGAGGC	18: 36,693,982 (GRCm39)	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)	probably null	Het
Cep131	CTGTTGTT	CTGTTGTTGTT	11: 119,963,794 (GRCm39)	probably benign	Het
Chga	AGC	AGCTGC	12: 102,527,682 (GRCm39)	probably benign	Het
Dmkn	GAAGTGGTGGAAGTGGTGG	GAAGTGGTGGAAGTGGTGGAAGTGGTGTAAGTGGTGGAAGTGGTGG	7: 30,466,613 (GRCm39)	probably benign	Het
Dnmt1	CCTCGTT	CCTCGTTTTGGGGGCGGAGCACAGTTCCTAGCTCGTT	9: 20,821,435 (GRCm39)	probably null	Het
Epha8	CCTGGGC	CC	4: 136,660,348 (GRCm39)	probably benign	Het
F830016B08Rik	AAAAAA	AAAAAAAAA	18: 60,433,010 (GRCm39)	probably benign	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 71,314,022 (GRCm39)	probably benign	Het
Gm8369	GTGT	GTGTCTGT	19: 11,489,128 (GRCm39)	probably null	Het
Irag2	ATTG	ATTGAGCACTTTG	6: 145,119,514 (GRCm39)	probably benign	Het
Lce1m	CAC	CACCGCTGCGGCGAC	3: 92,925,605 (GRCm39)	probably benign	Het
Nefh	GGGACT	GGGACTGGGCCTCACCTGCGGACT	11: 4,891,048 (GRCm39)	probably benign	Het
Prp2	CTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCT	C	6: 132,577,484 (GRCm39)	probably null	Het
Rassf6	TCACTCATGGTCCTGTAGAGCAATGGGGATTC	TCACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCCCACTCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,770 (GRCm39)	probably benign	Het
Rassf6	CAATGGGGATTC	CAATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGAAATGGGGATTC	5: 90,756,790 (GRCm39)	probably benign	Het
Rassf6	TGTAGAGCAATGGGGATTC	TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC	5: 90,756,783 (GRCm39)	probably benign	Het
Sbp	GATGCTGACAACAAA	GATGCTGACAACAAATATGCTGACAACAAA	17: 24,164,345 (GRCm39)	probably benign	Het
Six3	GCG	GCGCCG	17: 85,928,783 (GRCm39)	probably benign	Het
Tfeb	CAG	CAGTAG	17: 48,097,023 (GRCm39)	probably null	Het
Thbs1	TGACCTTAG	TG	2: 117,953,346 (GRCm39)	probably benign	Het
Tob1	GCA	GCACCA	11: 94,105,287 (GRCm39)	probably benign	Het
Ubqln3	AACAC	A	7: 103,790,385 (GRCm39)	probably null	Het
Zfhx3	AACAGCAGC	AACAGCAGCCACAGCAGC	8: 109,682,728 (GRCm39)	probably benign	Het

Other mutations in Lypd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01895:Lypd8	APN	11	58,281,046 (GRCm39)	missense	possibly damaging	0.53
confusion	UTSW	11	58,277,583 (GRCm39)	missense	probably benign	0.00
quandary	UTSW	11	58,275,439 (GRCm39)	missense	probably damaging	1.00
R0096:Lypd8	UTSW	11	58,277,583 (GRCm39)	missense	probably benign	0.00
R0628:Lypd8	UTSW	11	58,275,499 (GRCm39)	missense	probably damaging	1.00
R0711:Lypd8	UTSW	11	58,277,583 (GRCm39)	missense	probably benign	0.00
R2294:Lypd8	UTSW	11	58,277,680 (GRCm39)	missense	probably damaging	0.99
R3033:Lypd8	UTSW	11	58,275,453 (GRCm39)	missense	probably damaging	0.99
R4562:Lypd8	UTSW	11	58,273,215 (GRCm39)	critical splice donor site	probably null
R4610:Lypd8	UTSW	11	58,277,675 (GRCm39)	missense	probably benign	0.00
R5224:Lypd8	UTSW	11	58,277,634 (GRCm39)	missense	possibly damaging	0.93
R5468:Lypd8	UTSW	11	58,277,586 (GRCm39)	missense	probably damaging	0.96
R6213:Lypd8	UTSW	11	58,281,160 (GRCm39)	missense	probably benign
R6228:Lypd8	UTSW	11	58,277,629 (GRCm39)	missense	possibly damaging	0.60
R6528:Lypd8	UTSW	11	58,275,439 (GRCm39)	missense	probably damaging	1.00
R6947:Lypd8	UTSW	11	58,273,592 (GRCm39)	missense	probably benign	0.00
R7811:Lypd8	UTSW	11	58,281,064 (GRCm39)	missense	possibly damaging	0.53
R9006:Lypd8	UTSW	11	58,277,586 (GRCm39)	missense	possibly damaging	0.77
R9209:Lypd8	UTSW	11	58,273,640 (GRCm39)	missense	possibly damaging	0.93
RF018:Lypd8	UTSW	11	58,281,058 (GRCm39)	small insertion	probably benign
RF028:Lypd8	UTSW	11	58,281,065 (GRCm39)	small insertion	probably benign
RF039:Lypd8	UTSW	11	58,281,057 (GRCm39)	small insertion	probably benign
RF042:Lypd8	UTSW	11	58,281,069 (GRCm39)	small insertion	probably benign
RF043:Lypd8	UTSW	11	58,281,069 (GRCm39)	small insertion	probably benign
RF057:Lypd8	UTSW	11	58,281,065 (GRCm39)	small insertion	probably benign
Z1088:Lypd8	UTSW	11	58,277,556 (GRCm39)	missense	possibly damaging	0.92
Z1186:Lypd8	UTSW	11	58,275,489 (GRCm39)	missense	probably benign	0.02
Z1186:Lypd8	UTSW	11	58,281,059 (GRCm39)	small insertion	probably benign
Z1186:Lypd8	UTSW	11	58,281,064 (GRCm39)	small insertion	probably benign
Z1186:Lypd8	UTSW	11	58,281,070 (GRCm39)	small insertion	probably benign
Z1186:Lypd8	UTSW	11	58,273,601 (GRCm39)	missense	probably benign
Z1186:Lypd8	UTSW	11	58,275,475 (GRCm39)	missense	possibly damaging	0.63
Z1187:Lypd8	UTSW	11	58,275,489 (GRCm39)	missense	probably benign	0.02
Z1187:Lypd8	UTSW	11	58,275,475 (GRCm39)	missense	possibly damaging	0.63
Z1187:Lypd8	UTSW	11	58,273,601 (GRCm39)	missense	probably benign
Z1187:Lypd8	UTSW	11	58,281,059 (GRCm39)	small insertion	probably benign
Z1188:Lypd8	UTSW	11	58,275,489 (GRCm39)	missense	probably benign	0.02
Z1188:Lypd8	UTSW	11	58,275,475 (GRCm39)	missense	possibly damaging	0.63
Z1188:Lypd8	UTSW	11	58,273,601 (GRCm39)	missense	probably benign
Z1188:Lypd8	UTSW	11	58,281,059 (GRCm39)	small insertion	probably benign
Z1189:Lypd8	UTSW	11	58,275,489 (GRCm39)	missense	probably benign	0.02
Z1189:Lypd8	UTSW	11	58,275,475 (GRCm39)	missense	possibly damaging	0.63
Z1189:Lypd8	UTSW	11	58,273,601 (GRCm39)	missense	probably benign
Z1189:Lypd8	UTSW	11	58,281,059 (GRCm39)	small insertion	probably benign
Z1190:Lypd8	UTSW	11	58,275,489 (GRCm39)	missense	probably benign	0.02
Z1190:Lypd8	UTSW	11	58,275,475 (GRCm39)	missense	possibly damaging	0.63
Z1190:Lypd8	UTSW	11	58,273,601 (GRCm39)	missense	probably benign
Z1190:Lypd8	UTSW	11	58,281,059 (GRCm39)	small insertion	probably benign
Z1191:Lypd8	UTSW	11	58,275,489 (GRCm39)	missense	probably benign	0.02
Z1191:Lypd8	UTSW	11	58,275,475 (GRCm39)	missense	possibly damaging	0.63
Z1191:Lypd8	UTSW	11	58,273,601 (GRCm39)	missense	probably benign
Z1191:Lypd8	UTSW	11	58,281,059 (GRCm39)	small insertion	probably benign
Z1192:Lypd8	UTSW	11	58,273,601 (GRCm39)	missense	probably benign
Z1192:Lypd8	UTSW	11	58,281,069 (GRCm39)	small insertion	probably benign
Z1192:Lypd8	UTSW	11	58,281,068 (GRCm39)	small insertion	probably benign
Z1192:Lypd8	UTSW	11	58,281,061 (GRCm39)	small insertion	probably benign
Z1192:Lypd8	UTSW	11	58,281,059 (GRCm39)	small insertion	probably benign
Z1192:Lypd8	UTSW	11	58,275,489 (GRCm39)	missense	probably benign	0.02
Z1192:Lypd8	UTSW	11	58,275,475 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- TTACTTCTTCAGGCTCTGGCAG -3'
(R):5'- AACCCACTGGACAGTCTAACTG -3'

Sequencing Primer
(F):5'- CTTCAGGCTCTGGCAGAGTGG -3'
(R):5'- GTATATGAAGAGAAAGGTGTTGACAC -3'

Posted On

2019-12-04