Mutagenetix > Incidental Mutation

Incidental Mutation 'R7287:Ap5z1'

566081

Institutional Source

Beutler Lab

Gene Symbol

Ap5z1

Ensembl Gene

ENSMUSG00000039623

Gene Name

adaptor-related protein complex 5, zeta 1 subunit

Synonyms

C330006K01Rik

MMRRC Submission

045321-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R7287 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142449699-142464465 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142459802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 484 (L484P)

Ref Sequence

ENSEMBL: ENSMUSP00000041863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038699] [ENSMUST00000196055]

AlphaFold

Q3U829

Predicted Effect

probably damaging
Transcript: ENSMUST00000038699
AA Change: L484P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041863
Gene: ENSMUSG00000039623
AA Change: L484P

Domain	Start	End	E-Value	Type
low complexity region	271	294	N/A	INTRINSIC
Pfam:SPG48	319	437	2.9e-45	PFAM
low complexity region	579	584	N/A	INTRINSIC
low complexity region	617	628	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000196055
AA Change: L484P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143179
Gene: ENSMUSG00000039623
AA Change: L484P

Domain	Start	End	E-Value	Type
low complexity region	271	294	N/A	INTRINSIC
Pfam:SPG48	318	758	2.6e-181	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,604,861 (GRCm39)	D656G	possibly damaging	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abcc8	T	C	7: 45,762,534 (GRCm39)	H1209R	probably damaging	Het
Adam26a	T	C	8: 44,023,380 (GRCm39)	T37A	possibly damaging	Het
Adamts9	C	T	6: 92,866,984 (GRCm39)	R685Q	possibly damaging	Het
Anapc7	T	A	5: 122,571,499 (GRCm39)	N191K	probably benign	Het
Ankrd26	C	T	6: 118,526,598 (GRCm39)		probably null	Het
Arhgap32	A	G	9: 32,063,993 (GRCm39)	D77G		Het
Atp10a	T	A	7: 58,477,017 (GRCm39)	D1213E	probably damaging	Het
B3gnt8	T	C	7: 25,328,395 (GRCm39)	L275P	probably damaging	Het
Bltp2	G	A	11: 78,163,709 (GRCm39)	R1059H	possibly damaging	Het
Cab39	A	G	1: 85,746,182 (GRCm39)	E21G	probably benign	Het
Capn15	G	T	17: 26,179,429 (GRCm39)	S948R	probably damaging	Het
Cbarp	T	C	10: 79,973,154 (GRCm39)	T15A	unknown	Het
Ccdc81	C	T	7: 89,542,331 (GRCm39)	A182T	probably damaging	Het
Ccpg1	A	G	9: 72,922,688 (GRCm39)	H766R	probably benign	Het
Cfl1	T	C	19: 5,542,562 (GRCm39)	V14A	probably benign	Het
Chd6	A	G	2: 160,850,312 (GRCm39)	I875T	probably benign	Het
Cidec	T	A	6: 113,405,359 (GRCm39)	E121D	probably benign	Het
Clpx	C	A	9: 65,207,295 (GRCm39)	Y64*	probably null	Het
Cntn1	T	A	15: 92,143,833 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,826 (GRCm39)	L472P	probably damaging	Het
Dcdc2c	G	T	12: 28,566,685 (GRCm39)	D159E	probably benign	Het
Emp1	T	C	6: 135,357,167 (GRCm39)	F82L	probably benign	Het
Fem1b	T	C	9: 62,703,404 (GRCm39)	T619A	probably benign	Het
Fgf15	A	T	7: 144,450,531 (GRCm39)	D39V	probably benign	Het
Galnt12	T	G	4: 47,108,525 (GRCm39)	F221V	probably damaging	Het
Herc6	A	G	6: 57,628,965 (GRCm39)		probably null	Het
Hspg2	G	A	4: 137,256,867 (GRCm39)	V1537I	probably benign	Het
Ido2	T	C	8: 25,025,154 (GRCm39)		probably null	Het
Insr	G	A	8: 3,219,717 (GRCm39)	T935I	probably benign	Het
Itgax	G	A	7: 127,747,677 (GRCm39)	C1031Y	probably damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Kmt5b	T	C	19: 3,854,501 (GRCm39)	Y255H	possibly damaging	Het
Lrriq1	A	T	10: 103,051,877 (GRCm39)	Y292N	probably benign	Het
Mrpl37	A	G	4: 106,917,717 (GRCm39)	F318S	probably damaging	Het
Nav2	A	G	7: 49,070,076 (GRCm39)	N311D	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrp9b	T	C	7: 19,762,381 (GRCm39)	C673R	probably damaging	Het
Npnt	A	G	3: 132,612,563 (GRCm39)	V74A	probably benign	Het
Or10ak12	T	A	4: 118,666,939 (GRCm39)	T41S	probably benign	Het
Or1e19	T	A	11: 73,316,669 (GRCm39)	I47F	probably benign	Het
Plce1	A	T	19: 38,690,347 (GRCm39)	Q677L	probably benign	Het
Pmel	C	T	10: 128,551,095 (GRCm39)	Q113*	probably null	Het
Pom121l2	T	A	13: 22,168,502 (GRCm39)	F924L	probably benign	Het
Poteg	G	A	8: 27,943,372 (GRCm39)	R214K	probably null	Het
Pprc1	G	T	19: 46,059,793 (GRCm39)	S1480I	unknown	Het
Secisbp2l	A	G	2: 125,582,289 (GRCm39)	S1056P	probably benign	Het
Selenoo	T	C	15: 88,982,903 (GRCm39)	F477L	probably benign	Het
Senp2	A	G	16: 21,837,114 (GRCm39)	D121G	probably damaging	Het
Slc25a11	T	C	11: 70,536,181 (GRCm39)	D211G	probably benign	Het
Slc44a2	A	G	9: 21,253,752 (GRCm39)	D131G	probably benign	Het
Tcf25	G	A	8: 124,100,711 (GRCm39)	A34T	possibly damaging	Het
Tm9sf3	A	G	19: 41,205,818 (GRCm39)	Y530H	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmem132d	G	T	5: 128,061,415 (GRCm39)	Q396K	probably damaging	Het
Tmem154	A	G	3: 84,597,870 (GRCm39)	T136A	possibly damaging	Het
Tnrc6b	A	G	15: 80,763,742 (GRCm39)	T415A	possibly damaging	Het
Tonsl	T	C	15: 76,517,925 (GRCm39)		probably null	Het
Ttyh1	T	C	7: 4,128,657 (GRCm39)	Y185H	probably benign	Het
Ufl1	T	A	4: 25,254,852 (GRCm39)	T535S	probably benign	Het
Vmn1r15	T	C	6: 57,235,201 (GRCm39)	L23P	possibly damaging	Het
Vmn2r25	T	A	6: 123,829,040 (GRCm39)	H78L	possibly damaging	Het
Vmn2r68	T	C	7: 84,871,460 (GRCm39)	T608A	probably benign	Het
Vwf	A	G	6: 125,614,430 (GRCm39)	I1104V		Het
Zbtb2	C	T	10: 4,318,986 (GRCm39)	D347N	possibly damaging	Het
Zfyve9	A	T	4: 108,575,453 (GRCm39)	S543T	probably benign	Het
Zhx1	T	C	15: 57,916,692 (GRCm39)	N518S	probably damaging	Het
Zmym6	T	C	4: 127,016,775 (GRCm39)	V852A	possibly damaging	Het

Other mutations in Ap5z1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Ap5z1	APN	5	142,458,006 (GRCm39)	missense	probably benign	0.02
IGL01456:Ap5z1	APN	5	142,453,791 (GRCm39)	missense	probably damaging	0.96
IGL01656:Ap5z1	APN	5	142,456,069 (GRCm39)	missense	probably benign	0.10
IGL02079:Ap5z1	APN	5	142,462,868 (GRCm39)	critical splice donor site	probably null
IGL02134:Ap5z1	APN	5	142,460,214 (GRCm39)	missense	probably benign	0.09
IGL02662:Ap5z1	APN	5	142,462,644 (GRCm39)	splice site	probably null
IGL02805:Ap5z1	APN	5	142,456,038 (GRCm39)	unclassified	probably benign
R0057:Ap5z1	UTSW	5	142,456,144 (GRCm39)	unclassified	probably benign
R0057:Ap5z1	UTSW	5	142,456,144 (GRCm39)	unclassified	probably benign
R0094:Ap5z1	UTSW	5	142,462,567 (GRCm39)	missense	probably benign	0.00
R0395:Ap5z1	UTSW	5	142,456,317 (GRCm39)	unclassified	probably benign
R0811:Ap5z1	UTSW	5	142,461,546 (GRCm39)	missense	probably benign	0.00
R0812:Ap5z1	UTSW	5	142,461,546 (GRCm39)	missense	probably benign	0.00
R1241:Ap5z1	UTSW	5	142,455,869 (GRCm39)	missense	probably damaging	1.00
R1248:Ap5z1	UTSW	5	142,460,255 (GRCm39)	missense	probably benign	0.02
R1374:Ap5z1	UTSW	5	142,456,213 (GRCm39)	missense	probably damaging	1.00
R1616:Ap5z1	UTSW	5	142,457,991 (GRCm39)	missense	probably benign	0.10
R1923:Ap5z1	UTSW	5	142,458,096 (GRCm39)	missense	probably benign	0.30
R2423:Ap5z1	UTSW	5	142,462,532 (GRCm39)	missense	probably benign	0.02
R3790:Ap5z1	UTSW	5	142,456,168 (GRCm39)	missense	probably benign
R4859:Ap5z1	UTSW	5	142,459,748 (GRCm39)	missense	possibly damaging	0.75
R4965:Ap5z1	UTSW	5	142,453,431 (GRCm39)	missense	probably damaging	1.00
R5147:Ap5z1	UTSW	5	142,452,265 (GRCm39)	missense	probably benign	0.02
R5311:Ap5z1	UTSW	5	142,453,442 (GRCm39)	missense	possibly damaging	0.79
R5531:Ap5z1	UTSW	5	142,453,536 (GRCm39)	missense	probably benign
R5569:Ap5z1	UTSW	5	142,460,206 (GRCm39)	missense	probably damaging	0.99
R5725:Ap5z1	UTSW	5	142,454,731 (GRCm39)	missense	probably damaging	1.00
R7407:Ap5z1	UTSW	5	142,452,330 (GRCm39)	missense	probably benign	0.06
R7537:Ap5z1	UTSW	5	142,463,053 (GRCm39)	missense	probably benign	0.06
R7894:Ap5z1	UTSW	5	142,456,191 (GRCm39)	nonsense	probably null
R7894:Ap5z1	UTSW	5	142,452,039 (GRCm39)	missense	probably benign	0.34
R7895:Ap5z1	UTSW	5	142,456,313 (GRCm39)	critical splice donor site	probably null
R8022:Ap5z1	UTSW	5	142,455,904 (GRCm39)	critical splice donor site	probably null
R8244:Ap5z1	UTSW	5	142,459,735 (GRCm39)	missense	possibly damaging	0.60
R8823:Ap5z1	UTSW	5	142,460,191 (GRCm39)	missense	probably benign	0.19
R8867:Ap5z1	UTSW	5	142,463,011 (GRCm39)	missense	probably benign	0.05
R9673:Ap5z1	UTSW	5	142,463,113 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- GCTGAGCTGTCTTGTTCACC -3'
(R):5'- ATAACATCACAGGCTCTCGGG -3'

Sequencing Primer
(F):5'- GTCTTGTTCACCCCCGCAG -3'
(R):5'- GAGGCTCCTCTTCATGAACATGAG -3'

Posted On

2019-06-26