Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03170:Zpld2'

411800

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zpld2

Ensembl Gene

ENSMUSG00000073747

Gene Name

zona pellucida like domain containing 2

Synonyms

Gm7534

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL03170

Quality Score

Status

Chromosome

Chromosomal Location

133918115-133930315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 133920345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 607 (V607I)

Ref Sequence

ENSEMBL: ENSMUSP00000095461 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097849]

AlphaFold

Q3UU21

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097849
AA Change: V607I

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095461
Gene: ENSMUSG00000073747
AA Change: V607I

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
internal_repeat_1	21	111	5.47e-40	PROSPERO
low complexity region	112	143	N/A	INTRINSIC
low complexity region	158	177	N/A	INTRINSIC
internal_repeat_1	181	271	5.47e-40	PROSPERO
low complexity region	322	334	N/A	INTRINSIC
ZP	368	618	3.21e-13	SMART
low complexity region	650	668	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cand2	A	G	6: 115,774,861 (GRCm39)	D1023G	probably damaging	Het
Ccn1	C	A	3: 145,355,514 (GRCm39)	A12S	probably benign	Het
Cyp2c54	A	G	19: 40,060,809 (GRCm39)		probably null	Het
Cyp4f37	C	T	17: 32,844,093 (GRCm39)		probably benign	Het
Entpd2	T	C	2: 25,289,493 (GRCm39)	F325S	probably damaging	Het
Flnb	T	C	14: 7,818,261 (GRCm38)	I37T	possibly damaging	Het
Gtpbp10	A	G	5: 5,605,355 (GRCm39)	V116A	probably benign	Het
H2-T9	C	T	17: 36,439,605 (GRCm39)	G125E	probably damaging	Het
Lrp1b	T	A	2: 40,587,456 (GRCm39)	N164I	unknown	Het
Nle1	T	A	11: 82,795,096 (GRCm39)	T312S	probably benign	Het
Or10ab5	T	C	7: 108,245,307 (GRCm39)	I159V	probably benign	Het
Pim1	T	A	17: 29,710,152 (GRCm39)	L12Q	possibly damaging	Het
Plb1	G	T	5: 32,442,246 (GRCm39)	C246F	probably damaging	Het
Ppp4r4	T	C	12: 103,557,033 (GRCm39)		probably benign	Het
Prl6a1	T	A	13: 27,499,406 (GRCm39)	V63D	possibly damaging	Het
Ptprz1	G	A	6: 22,959,766 (GRCm39)	A88T	probably benign	Het
Ranbp3l	A	T	15: 9,029,611 (GRCm39)	E31V	probably damaging	Het
Relch	C	T	1: 105,663,680 (GRCm39)	T943I	probably damaging	Het
Rgs9	G	A	11: 109,150,681 (GRCm39)	T209I	probably benign	Het
Smg8	A	G	11: 86,977,434 (GRCm39)	V49A	probably damaging	Het
Smim6	A	T	11: 115,804,314 (GRCm39)	T34S	possibly damaging	Het
Snw1	T	G	12: 87,519,022 (GRCm39)	T4P	probably benign	Het
Sod2	C	A	17: 13,227,257 (GRCm39)	H70Q	probably benign	Het
Tro	A	G	X: 149,438,556 (GRCm39)	S34P	probably benign	Het
Tshr	T	A	12: 91,504,643 (GRCm39)	M527K	probably damaging	Het
Uggt1	A	C	1: 36,202,342 (GRCm39)	V1085G	probably damaging	Het
Vmn1r21	A	G	6: 57,820,847 (GRCm39)	V199A	probably damaging	Het
Xkr9	T	C	1: 13,771,036 (GRCm39)	I184T	possibly damaging	Het
Zfp369	T	C	13: 65,442,224 (GRCm39)	S273P	probably damaging	Het

Other mutations in Zpld2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Zpld2	APN	4	133,929,291 (GRCm39)	missense	probably benign	0.27
FR4342:Zpld2	UTSW	4	133,929,942 (GRCm39)	small insertion	probably benign
FR4976:Zpld2	UTSW	4	133,929,941 (GRCm39)	small insertion	probably benign
R0487:Zpld2	UTSW	4	133,930,089 (GRCm39)	missense	probably damaging	0.97
R0530:Zpld2	UTSW	4	133,930,221 (GRCm39)	missense	probably benign
R0553:Zpld2	UTSW	4	133,929,829 (GRCm39)	missense	possibly damaging	0.85
R1121:Zpld2	UTSW	4	133,930,248 (GRCm39)	missense	probably benign	0.00
R1458:Zpld2	UTSW	4	133,924,144 (GRCm39)	missense	probably benign	0.01
R1748:Zpld2	UTSW	4	133,929,430 (GRCm39)	missense	possibly damaging	0.57
R1748:Zpld2	UTSW	4	133,927,610 (GRCm39)	missense	probably damaging	1.00
R1913:Zpld2	UTSW	4	133,919,986 (GRCm39)	critical splice donor site	probably null
R2029:Zpld2	UTSW	4	133,929,669 (GRCm39)	missense	possibly damaging	0.87
R2069:Zpld2	UTSW	4	133,929,252 (GRCm39)	missense	possibly damaging	0.63
R2237:Zpld2	UTSW	4	133,929,516 (GRCm39)	missense	unknown
R2239:Zpld2	UTSW	4	133,929,516 (GRCm39)	missense	unknown
R3943:Zpld2	UTSW	4	133,927,656 (GRCm39)	missense	probably benign	0.15
R4646:Zpld2	UTSW	4	133,929,459 (GRCm39)	missense	probably benign	0.00
R4673:Zpld2	UTSW	4	133,927,658 (GRCm39)	missense	probably benign	0.01
R4838:Zpld2	UTSW	4	133,920,410 (GRCm39)	missense	probably benign	0.04
R5002:Zpld2	UTSW	4	133,924,231 (GRCm39)	missense	probably benign	0.09
R5593:Zpld2	UTSW	4	133,920,350 (GRCm39)	missense	probably damaging	0.99
R5606:Zpld2	UTSW	4	133,927,523 (GRCm39)	missense	probably benign	0.13
R6553:Zpld2	UTSW	4	133,929,367 (GRCm39)	missense	probably damaging	0.99
R6834:Zpld2	UTSW	4	133,920,476 (GRCm39)	missense	possibly damaging	0.95
R6931:Zpld2	UTSW	4	133,920,464 (GRCm39)	missense	probably benign	0.28
R7526:Zpld2	UTSW	4	133,927,384 (GRCm39)	splice site	probably null
R7771:Zpld2	UTSW	4	133,922,754 (GRCm39)	missense	probably benign	0.01
R8271:Zpld2	UTSW	4	133,930,278 (GRCm39)	missense	unknown
R8725:Zpld2	UTSW	4	133,930,150 (GRCm39)	missense	probably benign	0.19
R8727:Zpld2	UTSW	4	133,930,150 (GRCm39)	missense	probably benign	0.19
R8757:Zpld2	UTSW	4	133,930,282 (GRCm39)	missense	unknown
R8966:Zpld2	UTSW	4	133,929,712 (GRCm39)	missense	probably damaging	0.98
R8992:Zpld2	UTSW	4	133,929,978 (GRCm39)	missense	probably damaging	0.99
R9039:Zpld2	UTSW	4	133,922,858 (GRCm39)	missense	probably damaging	0.98
R9275:Zpld2	UTSW	4	133,922,770 (GRCm39)	missense	probably damaging	1.00
R9278:Zpld2	UTSW	4	133,922,770 (GRCm39)	missense	probably damaging	1.00
R9434:Zpld2	UTSW	4	133,929,553 (GRCm39)	missense	probably benign	0.01
R9458:Zpld2	UTSW	4	133,929,312 (GRCm39)	missense	probably benign	0.36
R9460:Zpld2	UTSW	4	133,929,312 (GRCm39)	missense	probably benign	0.36
R9461:Zpld2	UTSW	4	133,929,312 (GRCm39)	missense	probably benign	0.36
R9480:Zpld2	UTSW	4	133,929,312 (GRCm39)	missense	probably benign	0.36
R9481:Zpld2	UTSW	4	133,929,312 (GRCm39)	missense	probably benign	0.36
R9551:Zpld2	UTSW	4	133,929,312 (GRCm39)	missense	probably benign	0.36
R9552:Zpld2	UTSW	4	133,929,312 (GRCm39)	missense	probably benign	0.36
R9553:Zpld2	UTSW	4	133,929,312 (GRCm39)	missense	probably benign	0.36
RF015:Zpld2	UTSW	4	133,920,338 (GRCm39)	missense	probably benign
T0975:Zpld2	UTSW	4	133,929,940 (GRCm39)	small insertion	probably benign
Z1176:Zpld2	UTSW	4	133,929,988 (GRCm39)	missense	probably benign
Z1176:Zpld2	UTSW	4	133,927,649 (GRCm39)	missense	possibly damaging	0.90

Posted On

2016-08-02