Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02089:Zpld1'

279374

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zpld1

Ensembl Gene

ENSMUSG00000064310

Gene Name

zona pellucida like domain containing 1

Synonyms

9430016A21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL02089

Quality Score

Status

Chromosome

Chromosomal Location

55045538-55118349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55071974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 95 (I95T)

Ref Sequence

ENSEMBL: ENSMUSP00000119774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036412] [ENSMUST00000143914]

AlphaFold

Q8BGZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000036412
AA Change: I95T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000049012
Gene: ENSMUSG00000064310
AA Change: I95T

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
ZP	43	316	2.24e-6	SMART
transmembrane domain	374	396	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143914
AA Change: I95T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000119774
Gene: ENSMUSG00000064310
AA Change: I95T

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
ZP	43	316	2.24e-6	SMART
transmembrane domain	374	396	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330160F10Rik	C	T	11: 68,951,013 (GRCm39)		silent	Het
Adck1	G	T	12: 88,413,480 (GRCm39)	V271F	probably damaging	Het
Aggf1	T	C	13: 95,507,437 (GRCm39)	D116G	probably benign	Het
Anapc1	A	T	2: 128,505,853 (GRCm39)	V661E	probably damaging	Het
Apoa5	T	C	9: 46,180,437 (GRCm39)		probably null	Het
Atp8a2	C	T	14: 60,264,369 (GRCm39)		probably null	Het
Bnipl	A	T	3: 95,157,577 (GRCm39)		probably benign	Het
Cbs	T	G	17: 31,834,519 (GRCm39)	D490A	probably benign	Het
Chrdl1	G	T	X: 142,086,510 (GRCm39)	H199N	possibly damaging	Het
Dcaf1	C	T	9: 106,740,310 (GRCm39)	T1232I	probably benign	Het
Ddx19b	T	C	8: 111,735,477 (GRCm39)		probably benign	Het
Ephb4	A	G	5: 137,369,024 (GRCm39)	K805E	probably damaging	Het
Ergic3	A	G	2: 155,852,395 (GRCm39)	N135D	probably benign	Het
Fbxw18	C	T	9: 109,530,390 (GRCm39)	V74I	probably benign	Het
Fmo4	G	T	1: 162,626,649 (GRCm39)	T299N	probably benign	Het
Gmeb1	T	C	4: 131,953,147 (GRCm39)	K540E	probably damaging	Het
H60c	T	A	10: 3,209,826 (GRCm39)	S154C	possibly damaging	Het
Herc1	T	C	9: 66,388,151 (GRCm39)	L3812S	probably damaging	Het
Hipk3	T	C	2: 104,261,724 (GRCm39)	D937G	probably damaging	Het
Ift122	A	G	6: 115,902,398 (GRCm39)	D1079G	probably benign	Het
Il6st	T	C	13: 112,631,774 (GRCm39)	W438R	probably benign	Het
Lypla2	C	T	4: 135,696,932 (GRCm39)	V117I	probably benign	Het
Mapk8ip1	T	C	2: 92,216,220 (GRCm39)	Y516C	probably damaging	Het
Mmp24	G	A	2: 155,654,213 (GRCm39)	G397D	probably damaging	Het
Muc4	G	A	16: 32,570,131 (GRCm39)	S397N	possibly damaging	Het
Muc5b	T	G	7: 141,416,987 (GRCm39)	V3311G	probably benign	Het
Naca	A	G	10: 127,872,358 (GRCm39)		probably benign	Het
Nrxn1	A	G	17: 91,395,829 (GRCm39)	V109A	probably benign	Het
Nup210	T	G	6: 91,053,680 (GRCm39)	D279A	probably benign	Het
Or10g6	A	T	9: 39,934,066 (GRCm39)	I126F	probably damaging	Het
Or8h7	A	G	2: 86,721,460 (GRCm39)	S20P	possibly damaging	Het
Pappa	T	A	4: 65,074,361 (GRCm39)	V305E	possibly damaging	Het
Pcdh19	A	T	X: 132,489,245 (GRCm39)	M977K	probably benign	Het
Pdzph1	T	A	17: 59,274,334 (GRCm39)	I837F	possibly damaging	Het
Phip	A	T	9: 82,753,372 (GRCm39)	L1791M	probably damaging	Het
Pkdrej	C	T	15: 85,700,489 (GRCm39)	V1816I	possibly damaging	Het
Ptprz1	G	A	6: 23,033,447 (GRCm39)	V1063M	probably damaging	Het
Qprt	A	T	7: 126,707,528 (GRCm39)	M220K	probably damaging	Het
R3hcc1	T	C	14: 69,937,475 (GRCm39)	K391E	possibly damaging	Het
Rbbp7	C	A	X: 161,554,052 (GRCm39)	P162Q	probably benign	Het
Rev3l	A	T	10: 39,701,095 (GRCm39)	N1864I	probably damaging	Het
Rims1	A	G	1: 22,669,556 (GRCm39)	I84T	possibly damaging	Het
Rnase2b	A	T	14: 51,400,240 (GRCm39)	K107I	probably benign	Het
Sbf1	C	A	15: 89,186,708 (GRCm39)	E864*	probably null	Het
Strip2	G	A	6: 29,917,179 (GRCm39)		probably benign	Het
Stx4a	T	C	7: 127,447,570 (GRCm39)	I238T	probably damaging	Het
Tbc1d2b	C	T	9: 90,104,412 (GRCm39)	V577I	possibly damaging	Het
Tex38	T	C	4: 115,637,591 (GRCm39)	T71A	possibly damaging	Het
Usp38	T	C	8: 81,712,343 (GRCm39)	E564G	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,374 (GRCm39)	V730E	probably benign	Het
Wwp2	T	A	8: 108,280,689 (GRCm39)	L644Q	probably damaging	Het
Zfp267	T	C	3: 36,218,877 (GRCm39)	F300S	possibly damaging	Het

Other mutations in Zpld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01360:Zpld1	APN	16	55,046,748 (GRCm39)	missense	probably benign	0.10
IGL01380:Zpld1	APN	16	55,072,133 (GRCm39)	missense	probably damaging	0.99
IGL03350:Zpld1	APN	16	55,061,692 (GRCm39)	splice site	probably benign
whirl	UTSW	16	55,053,993 (GRCm39)	missense	probably damaging	1.00
R0324:Zpld1	UTSW	16	55,071,978 (GRCm39)	missense	probably damaging	1.00
R1296:Zpld1	UTSW	16	55,068,697 (GRCm39)	missense	probably damaging	0.99
R1500:Zpld1	UTSW	16	55,053,935 (GRCm39)	missense	probably damaging	0.97
R3712:Zpld1	UTSW	16	55,046,799 (GRCm39)	nonsense	probably null
R4096:Zpld1	UTSW	16	55,053,881 (GRCm39)	missense	probably damaging	1.00
R4835:Zpld1	UTSW	16	55,068,618 (GRCm39)	missense	probably damaging	0.99
R5153:Zpld1	UTSW	16	55,067,007 (GRCm39)	missense	probably damaging	1.00
R5412:Zpld1	UTSW	16	55,052,646 (GRCm39)	missense	possibly damaging	0.72
R5527:Zpld1	UTSW	16	55,046,725 (GRCm39)	missense	probably benign	0.06
R5537:Zpld1	UTSW	16	55,054,003 (GRCm39)	missense	possibly damaging	0.84
R6167:Zpld1	UTSW	16	55,053,962 (GRCm39)	missense	probably damaging	1.00
R6178:Zpld1	UTSW	16	55,053,993 (GRCm39)	missense	probably damaging	1.00
R6788:Zpld1	UTSW	16	55,052,603 (GRCm39)	missense	possibly damaging	0.93
R6877:Zpld1	UTSW	16	55,072,034 (GRCm39)	missense	probably damaging	0.99
R7165:Zpld1	UTSW	16	55,052,594 (GRCm39)	missense	probably benign	0.03
R7382:Zpld1	UTSW	16	55,067,046 (GRCm39)	critical splice acceptor site	probably null
R7423:Zpld1	UTSW	16	55,054,027 (GRCm39)	missense	probably damaging	1.00
R8217:Zpld1	UTSW	16	55,047,295 (GRCm39)	critical splice donor site	probably null
R8377:Zpld1	UTSW	16	55,067,017 (GRCm39)	missense	probably benign	0.04
R9076:Zpld1	UTSW	16	55,061,764 (GRCm39)	missense	probably benign	0.32
R9564:Zpld1	UTSW	16	55,061,701 (GRCm39)	nonsense	probably null
Z1176:Zpld1	UTSW	16	55,072,128 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16