Mutagenetix > Incidental Mutation

Incidental Mutation 'R9407:Lypd4'

711592

Institutional Source

Beutler Lab

Gene Symbol

Lypd4

Ensembl Gene

ENSMUSG00000062732

Gene Name

Ly6/Plaur domain containing 4

Synonyms

4933400F01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R9407 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24564044-24569180 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24566160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 55 (C55S)

Ref Sequence

ENSEMBL: ENSMUSP00000078287 (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 null
Transcript: ENSMUST00000079306
AA Change: C55S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078287
Gene: ENSMUSG00000062732
AA Change: C55S

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: C55S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122913
Gene: ENSMUSG00000062732
AA Change: C55S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170837

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	T	C	14: 64,223,629 (GRCm39)	Y49C	probably damaging	Het
Abca6	A	T	11: 110,093,210 (GRCm39)	L1021*	probably null	Het
Abcc9	A	G	6: 142,574,229 (GRCm39)	S1003P	possibly damaging	Het
Aldh4a1	A	G	4: 139,372,345 (GRCm39)	I505V	probably benign	Het
Brwd1	T	C	16: 95,803,693 (GRCm39)	D2159G	possibly damaging	Het
C1s2	T	C	6: 124,602,454 (GRCm39)	I586V	probably benign	Het
Cd300e	C	A	11: 114,946,171 (GRCm39)	D97Y	probably damaging	Het
Celsr3	A	G	9: 108,723,596 (GRCm39)	D2877G	probably damaging	Het
Cep41	T	C	6: 30,655,841 (GRCm39)	N328D	probably benign	Het
Cldn15	G	A	5: 137,003,765 (GRCm39)	V227M	probably damaging	Het
Clec10a	T	G	11: 70,060,155 (GRCm39)	I98S	probably damaging	Het
Cpne4	A	G	9: 104,749,963 (GRCm39)	Q89R	probably damaging	Het
Cryba2	C	A	1: 74,932,037 (GRCm39)	A4S	probably benign	Het
Csmd2	G	A	4: 128,442,613 (GRCm39)	A3222T		Het
Dapk1	C	A	13: 60,898,991 (GRCm39)	Y820*	probably null	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Entrep3	C	A	3: 89,094,645 (GRCm39)	A416D	possibly damaging	Het
Gar1	A	G	3: 129,620,608 (GRCm39)	Y160H	probably damaging	Het
Gm21834	T	A	17: 58,048,863 (GRCm39)	I118L	probably benign	Het
Gtf2a1l	G	A	17: 89,001,531 (GRCm39)	G129D	probably damaging	Het
Gzmb	T	A	14: 56,497,712 (GRCm39)	Y176F	probably benign	Het
Helz2	T	G	2: 180,881,975 (GRCm39)	K273Q	probably benign	Het
Ifi207	T	A	1: 173,555,234 (GRCm39)	E816V	probably damaging	Het
Insr	A	C	8: 3,235,106 (GRCm39)	D694E	probably benign	Het
Insyn2b	G	A	11: 34,352,072 (GRCm39)	R38Q	probably damaging	Het
Ipcef1	A	T	10: 6,870,036 (GRCm39)	C172*	probably null	Het
Itgal	T	G	7: 126,921,796 (GRCm39)		probably null	Het
Laptm5	A	T	4: 130,655,990 (GRCm39)	M103L		Het
Mccc1	A	C	3: 36,030,865 (GRCm39)	H400Q	possibly damaging	Het
Myl4	C	T	11: 104,474,887 (GRCm39)	R79W	probably damaging	Het
Myo18a	A	G	11: 77,709,596 (GRCm39)	T569A	probably benign	Het
Or14a259	G	C	7: 86,013,194 (GRCm39)	S117*	probably null	Het
Or4c117	T	A	2: 88,955,629 (GRCm39)	T149S	probably benign	Het
Or5ak24	A	G	2: 85,261,060 (GRCm39)	S38P	probably damaging	Het
Otof	T	A	5: 30,538,265 (GRCm39)	D1153V	probably damaging	Het
Pcdha12	A	T	18: 37,153,614 (GRCm39)	D111V	probably damaging	Het
Pomt2	G	T	12: 87,157,146 (GRCm39)	F724L	probably damaging	Het
Ros1	T	A	10: 51,994,491 (GRCm39)	Y1284F	probably damaging	Het
Skint6	T	C	4: 113,034,224 (GRCm39)	K301R	possibly damaging	Het
Slc30a5	T	A	13: 100,951,214 (GRCm39)	R223*	probably null	Het
Slc35a1	A	T	4: 34,675,181 (GRCm39)	V119E	probably damaging	Het
Slc6a11	A	T	6: 114,220,914 (GRCm39)	I482F	probably damaging	Het
Tektl1	T	C	10: 78,583,128 (GRCm39)	T419A	probably damaging	Het
Tgm1	A	T	14: 55,942,991 (GRCm39)	C616*	probably null	Het
Tiam2	T	A	17: 3,553,298 (GRCm39)	I1125N	probably damaging	Het
Tln2	T	C	9: 67,136,732 (GRCm39)	D1251G	probably damaging	Het
Tnfaip2	C	G	12: 111,412,161 (GRCm39)	S187R	probably benign	Het
Ush2a	A	G	1: 188,644,045 (GRCm39)	Y4469C	probably damaging	Het
Vmn1r229	G	C	17: 21,035,259 (GRCm39)	C168S	probably damaging	Het
Vmn2r53	A	G	7: 12,335,124 (GRCm39)	S179P	probably damaging	Het
Zfp474	A	C	18: 52,771,502 (GRCm39)	I52L	probably benign	Het

Other mutations in Lypd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02285:Lypd4	APN	7	24,564,865 (GRCm39)	missense	probably damaging	0.99
R0012:Lypd4	UTSW	7	24,564,757 (GRCm39)	missense	probably damaging	1.00
R0012:Lypd4	UTSW	7	24,564,757 (GRCm39)	missense	probably damaging	1.00
R0355:Lypd4	UTSW	7	24,564,691 (GRCm39)	missense	probably benign	0.03
R0605:Lypd4	UTSW	7	24,564,800 (GRCm39)	missense	probably damaging	1.00
R1502:Lypd4	UTSW	7	24,566,253 (GRCm39)	missense	probably benign
R3721:Lypd4	UTSW	7	24,564,884 (GRCm39)	missense	probably benign	0.26
R4670:Lypd4	UTSW	7	24,566,151 (GRCm39)	missense	probably benign	0.06
R4835:Lypd4	UTSW	7	24,566,121 (GRCm39)	missense	probably benign	0.00
R5032:Lypd4	UTSW	7	24,566,240 (GRCm39)	missense	probably damaging	1.00
R5642:Lypd4	UTSW	7	24,564,604 (GRCm39)	missense	probably benign	0.01
R8141:Lypd4	UTSW	7	24,564,254 (GRCm39)	missense	possibly damaging	0.69
X0063:Lypd4	UTSW	7	24,564,811 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCAATATATGTGTGTTATAATCCCAC -3'
(R):5'- CAGGCTTTCTGTGTGCTGA -3'

Sequencing Primer
(F):5'- AATCCCACTGTATATTTGTGTGTG -3'
(R):5'- CCAGCCTGGTCTATAGAATAAGTTCC -3'

Posted On

2022-05-16