Mutagenetix > Incidental Mutations

Incidental Mutation 'R0012:Lypd4'

8110

Institutional Source

Beutler Lab

Gene Symbol

Lypd4

Ensembl Gene

ENSMUSG00000062732

Gene Name

Ly6/Plaur domain containing 4

Synonyms

4933400F01Rik

MMRRC Submission

038307-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R0012 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

24864620-24869941 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24865332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 127 (L127P)

Ref Sequence

ENSEMBL: ENSMUSP00000122913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011493] [ENSMUST00000079306] [ENSMUST00000122995] [ENSMUST00000170837]

AlphaFold

Q8BVP6

Predicted Effect

probably benign
Transcript: ENSMUST00000011493

SMART Domains

Protein: ENSMUSP00000011493
Gene: ENSMUSG00000011349

Domain	Start	End	E-Value	Type
DM	38	91	6.53e-21	SMART
low complexity region	163	189	N/A	INTRINSIC
Pfam:DMRT-like	242	369	3.1e-54	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000079306
AA Change: L127P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078287
Gene: ENSMUSG00000062732
AA Change: L127P

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UPAR_LY6	142	233	7.5e-23	PFAM
low complexity region	237	244	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000122995
AA Change: L127P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122913
Gene: ENSMUSG00000062732
AA Change: L127P

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205486

Meta Mutation Damage Score

0.2767

Coding Region Coverage

1x: 78.7%
3x: 69.0%
10x: 44.7%
20x: 26.0%

Validation Efficiency

91% (95/104)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap1	A	G	5: 139,307,734		probably benign	Het
Bnip3	A	G	7: 138,898,672		probably benign	Het
Brwd1	A	C	16: 96,059,652	S311R	probably damaging	Het
C2cd3	G	A	7: 100,418,522	V871M	possibly damaging	Het
Chd2	G	T	7: 73,455,519	T192K	probably damaging	Het
Chrna10	T	C	7: 102,115,057	N40S	possibly damaging	Het
Copb1	T	A	7: 114,237,408	K366N	probably damaging	Het
Dpysl4	T	G	7: 139,097,883	I412S	probably benign	Het
E130309D02Rik	A	G	5: 143,314,182	L137P	probably damaging	Het
Fat2	A	G	11: 55,262,871	V3505A	probably benign	Het
Fbxo24	A	G	5: 137,621,994	F101S	probably damaging	Het
Gcnt3	T	C	9: 70,034,085	I400M	probably benign	Het
Gm2962	T	A	1: 170,925,339		probably benign	Het
Gsap	T	A	5: 21,226,229		probably benign	Het
Hipk1	A	G	3: 103,763,680	M467T	probably damaging	Het
Hmgb4	T	A	4: 128,260,725	I17F	probably damaging	Het
Kif17	T	G	4: 138,293,748	S606A	probably damaging	Het
Lyst	A	G	13: 13,687,694	H2605R	probably benign	Het
Map3k4	A	G	17: 12,238,189	S1289P	probably damaging	Het
Mob1b	G	A	5: 88,756,084		probably benign	Het
Mthfd2l	A	T	5: 90,961,383	H224L	probably damaging	Het
Nectin2	T	C	7: 19,730,744		probably benign	Het
Rae1	T	A	2: 173,002,673	F4I	unknown	Het
Ralgapa2	A	G	2: 146,412,752	Y821H	probably benign	Het
Sharpin	G	T	15: 76,348,343	P156T	possibly damaging	Het
Slc38a4	C	T	15: 96,999,629	R435H	probably damaging	Het
Snrnp200	T	C	2: 127,228,549	V1061A	probably benign	Het
Suclg1	A	G	6: 73,270,997	T234A	possibly damaging	Het
Tet2	T	C	3: 133,476,558	Y1215C	probably damaging	Het
Tjp1	A	G	7: 65,329,775		probably benign	Het
Tnpo3	T	C	6: 29,589,177	E58G	probably damaging	Het
Trp53bp2	T	A	1: 182,444,718	M464K	probably damaging	Het
Trpm1	A	G	7: 64,268,591	S560G	possibly damaging	Het
Unc80	T	C	1: 66,507,391	S541P	probably damaging	Het
Ushbp1	T	C	8: 71,395,040		probably benign	Het
Zfp644	T	G	5: 106,635,043	E1155A	probably benign	Het

Other mutations in Lypd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02285:Lypd4	APN	7	24865440	missense	probably damaging	0.99
R0012:Lypd4	UTSW	7	24865332	missense	probably damaging	1.00
R0355:Lypd4	UTSW	7	24865266	missense	probably benign	0.03
R0605:Lypd4	UTSW	7	24865375	missense	probably damaging	1.00
R1502:Lypd4	UTSW	7	24866828	missense	probably benign
R3721:Lypd4	UTSW	7	24865459	missense	probably benign	0.26
R4670:Lypd4	UTSW	7	24866726	missense	probably benign	0.06
R4835:Lypd4	UTSW	7	24866696	missense	probably benign	0.00
R5032:Lypd4	UTSW	7	24866815	missense	probably damaging	1.00
R5642:Lypd4	UTSW	7	24865179	missense	probably benign	0.01
R8141:Lypd4	UTSW	7	24864829	missense	possibly damaging	0.69
R9407:Lypd4	UTSW	7	24866735	missense	probably null	1.00
X0063:Lypd4	UTSW	7	24865386	missense	probably damaging	0.99

Posted On

2012-11-20