Mutagenetix > Incidental Mutation

Incidental Mutation 'R1296:Zpld1'

158152

Institutional Source

Beutler Lab

Gene Symbol

Zpld1

Ensembl Gene

ENSMUSG00000064310

Gene Name

zona pellucida like domain containing 1

Synonyms

9430016A21Rik

MMRRC Submission

039362-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R1296 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55045538-55118349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55068697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 138 (D138G)

Ref Sequence

ENSEMBL: ENSMUSP00000119774 (fasta)

Gene Model

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

AlphaFold

Q8BGZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000036412
AA Change: D138G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049012
Gene: ENSMUSG00000064310
AA Change: D138G

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 damaging
Transcript: ENSMUST00000143914
AA Change: D138G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119774
Gene: ENSMUSG00000064310
AA Change: D138G

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

Meta Mutation Damage Score

0.1345

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.5%
20x: 87.1%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	G	A	8: 56,324,754 (GRCm39)	Q567*	probably null	Het
Apol11a	T	C	15: 77,395,219 (GRCm39)		probably benign	Het
Arhgap29	A	G	3: 121,786,044 (GRCm39)	H275R	probably benign	Het
Arhgef17	C	A	7: 100,530,476 (GRCm39)	E428*	probably null	Het
Atm	A	T	9: 53,367,830 (GRCm39)	V2431E	probably damaging	Het
Atn1	G	T	6: 124,724,750 (GRCm39)	P161Q	unknown	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Atp8a1	A	T	5: 67,780,049 (GRCm39)		probably benign	Het
Cdk18	T	C	1: 132,047,698 (GRCm39)		probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Cntn4	G	T	6: 106,486,363 (GRCm39)	G264C	probably damaging	Het
Col6a4	A	G	9: 105,940,052 (GRCm39)	S1293P	possibly damaging	Het
Col6a6	T	C	9: 105,658,290 (GRCm39)	K641E	probably damaging	Het
Dmd	A	T	X: 82,922,126 (GRCm39)	K1465N	probably damaging	Het
Dus2	T	C	8: 106,779,675 (GRCm39)	V403A	possibly damaging	Het
Frs2	C	T	10: 116,916,979 (GRCm39)	C5Y	probably benign	Het
Gm5174	A	G	10: 86,492,866 (GRCm39)		noncoding transcript	Het
Gpr61	A	G	3: 108,057,797 (GRCm39)	V288A	possibly damaging	Het
Grik3	G	A	4: 125,598,357 (GRCm39)		probably benign	Het
Haao	T	A	17: 84,146,267 (GRCm39)	Q69L	probably benign	Het
Ints6	T	C	14: 62,942,352 (GRCm39)		probably benign	Het
Ints8	T	C	4: 11,221,204 (GRCm39)	I724V	possibly damaging	Het
Lrrk2	G	A	15: 91,613,123 (GRCm39)	C749Y	probably damaging	Het
Map4k1	A	G	7: 28,697,877 (GRCm39)	D471G	possibly damaging	Het
Mbtd1	A	G	11: 93,801,185 (GRCm39)	Y122C	probably damaging	Het
Mif-ps9	T	A	19: 56,743,766 (GRCm39)		noncoding transcript	Het
Mrfap1	A	G	5: 36,953,817 (GRCm39)	S41P	possibly damaging	Het
Mrm2	T	C	5: 140,314,308 (GRCm39)	T176A	probably benign	Het
Mslnl	T	C	17: 25,962,214 (GRCm39)	L204P	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Nfyb	A	G	10: 82,586,665 (GRCm39)		probably benign	Het
Nlgn3	T	C	X: 100,352,522 (GRCm39)		probably benign	Het
Nr3c1	G	A	18: 39,620,051 (GRCm39)	Q79*	probably null	Het
Nxpe4	C	G	9: 48,307,793 (GRCm39)	T299R	probably benign	Het
Otud4	C	A	8: 80,400,603 (GRCm39)	H1105N	unknown	Het
Pcnx2	A	G	8: 126,500,572 (GRCm39)	L1506P	probably damaging	Het
Prl2c5	T	A	13: 13,364,009 (GRCm39)	H88Q	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rbl1	A	T	2: 157,011,891 (GRCm39)	V688D	probably benign	Het
Rhox2g	C	A	X: 36,824,865 (GRCm39)		probably benign	Het
Rmnd5a	G	A	6: 71,375,439 (GRCm39)	L80F	probably benign	Het
Ryr2	T	C	13: 11,702,765 (GRCm39)		probably benign	Het
Sele	T	A	1: 163,878,379 (GRCm39)	S239R	probably damaging	Het
Siglecf	A	T	7: 43,005,344 (GRCm39)	R435*	probably null	Het
Slc23a1	C	T	18: 35,755,676 (GRCm39)	V407M	possibly damaging	Het
Slc6a14	G	A	X: 21,587,807 (GRCm39)	V122I	probably benign	Het
Spdl1	T	A	11: 34,704,434 (GRCm39)	E466D	unknown	Het
Stau2	A	G	1: 16,510,596 (GRCm39)	F121L	probably benign	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sufu	G	A	19: 46,443,159 (GRCm39)		probably benign	Het
Tap2	G	T	17: 34,430,889 (GRCm39)	V330L	probably benign	Het
Tbc1d1	T	C	5: 64,421,775 (GRCm39)	L389P	probably damaging	Het
Tbx2	A	G	11: 85,725,592 (GRCm39)	E181G	probably damaging	Het
Tlcd4	A	G	3: 121,000,940 (GRCm39)	V231A	probably benign	Het
Tmprss9	G	T	10: 80,726,279 (GRCm39)	A510S	probably benign	Het
Tnxb	G	A	17: 34,890,551 (GRCm39)	C298Y	probably damaging	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Ugt2a3	A	T	5: 87,475,005 (GRCm39)	L413Q	probably damaging	Het
Vcan	A	G	13: 89,805,675 (GRCm39)	I2335T	probably damaging	Het
Vmn2r28	T	C	7: 5,484,544 (GRCm39)	N552S	possibly damaging	Het
Zc3h7a	C	T	16: 10,978,890 (GRCm39)	R95H	probably damaging	Het
Zfp598	A	G	17: 24,898,623 (GRCm39)	N474S	probably benign	Het
Zng1	A	T	19: 24,920,039 (GRCm39)		probably benign	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
IGL02089:Zpld1	APN	16	55,071,974 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGAACCTCATAAGCACCTATGGCTTTTG -3'
(R):5'- GTGGCATACCTGAAGTTCCATTGAGT -3'

Sequencing Primer
(F):5'- ggaagacagagagataggtaacag -3'
(R):5'- GCTTCTGGAAATGCTACCAC -3'

Posted On

2014-02-18