Mutagenetix > Incidental Mutation

Incidental Mutation 'R7537:Ap5z1'

583643

Institutional Source

Beutler Lab

Gene Symbol

Ap5z1

Ensembl Gene

ENSMUSG00000039623

Gene Name

adaptor-related protein complex 5, zeta 1 subunit

Synonyms

C330006K01Rik

MMRRC Submission

045609-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R7537 (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 142463053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 746 (S746P)

Ref Sequence

ENSEMBL: ENSMUSP00000041863 (fasta)

Gene Model

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

AlphaFold

Q3U829

Predicted Effect

probably benign
Transcript: ENSMUST00000038699
AA Change: S746P

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000041863
Gene: ENSMUSG00000039623
AA Change: S746P

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 benign
Transcript: ENSMUST00000196055
AA Change: S730P

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000143179
Gene: ENSMUSG00000039623
AA Change: S730P

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: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,967,637 (GRCm39)	L2229P	possibly damaging	Het
Acaca	T	A	11: 84,151,460 (GRCm39)	M786K	probably damaging	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adap1	T	G	5: 139,278,928 (GRCm39)	E117D	possibly damaging	Het
Appl2	A	G	10: 83,453,292 (GRCm39)	I208T	possibly damaging	Het
Astn1	A	G	1: 158,332,956 (GRCm39)	E346G	possibly damaging	Het
Astn1	G	A	1: 158,495,208 (GRCm39)		probably null	Het
Atp23	T	A	10: 126,704,594 (GRCm39)	I180L	unknown	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cdh23	A	T	10: 60,220,724 (GRCm39)	I1340N	probably benign	Het
Cdh8	G	A	8: 99,825,517 (GRCm39)	Q493*	probably null	Het
Ces1g	T	C	8: 94,046,455 (GRCm39)	I357V	probably benign	Het
Ddx46	A	G	13: 55,798,291 (GRCm39)	D226G	probably damaging	Het
Eea1	C	T	10: 95,830,767 (GRCm39)	Q143*	probably null	Het
Erlin2	G	T	8: 27,521,800 (GRCm39)		probably null	Het
Fat3	T	A	9: 15,849,615 (GRCm39)	D3929V	probably damaging	Het
Flt3	T	C	5: 147,271,247 (GRCm39)	D898G	probably damaging	Het
Gm16519	A	G	17: 71,236,351 (GRCm39)	N100S	probably benign	Het
Gnl1	A	G	17: 36,299,428 (GRCm39)	H533R	probably damaging	Het
Gphn	A	G	12: 78,551,454 (GRCm39)	T301A	possibly damaging	Het
Herc2	C	T	7: 55,869,527 (GRCm39)	R4295*	probably null	Het
Insm2	T	C	12: 55,646,303 (GRCm39)	S16P	possibly damaging	Het
Jak2	C	T	19: 29,276,037 (GRCm39)	T778I	probably benign	Het
Lrriq3	A	G	3: 154,806,734 (GRCm39)	T128A	probably damaging	Het
Lst1	A	G	17: 35,405,920 (GRCm39)		probably null	Het
Magi1	G	T	6: 93,685,091 (GRCm39)	Y762*	probably null	Het
Man2b1	T	A	8: 85,817,594 (GRCm39)	C358*	probably null	Het
Mga	T	C	2: 119,766,032 (GRCm39)	V1432A	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Morc2a	C	T	11: 3,633,566 (GRCm39)	Q587*	probably null	Het
Mrc2	T	C	11: 105,183,623 (GRCm39)	I4T	probably benign	Het
Muc16	C	A	9: 18,549,431 (GRCm39)	V5621F	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myo3b	A	G	2: 70,047,513 (GRCm39)	R340G	probably benign	Het
Nipal3	T	C	4: 135,218,248 (GRCm39)	Y34C	probably damaging	Het
Nktr	T	A	9: 121,578,345 (GRCm39)	D804E	unknown	Het
Nlrp4b	A	G	7: 10,448,816 (GRCm39)	M340V	probably benign	Het
Or1e26	T	A	11: 73,480,094 (GRCm39)	T157S	probably benign	Het
Or2ag2b	G	A	7: 106,417,581 (GRCm39)	C97Y	probably damaging	Het
Or56a41	A	T	7: 104,741,978 (GRCm39)	M16K	probably benign	Het
Or5al5	A	G	2: 85,961,608 (GRCm39)	V133A	probably benign	Het
Pard3	T	A	8: 128,337,063 (GRCm39)	N1271K	probably damaging	Het
Pcdhb11	A	T	18: 37,554,672 (GRCm39)	M1L	possibly damaging	Het
Pclo	T	C	5: 14,732,118 (GRCm39)	V3540A	unknown	Het
Pemt	A	G	11: 59,867,670 (GRCm39)	F154S	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Rnpc3	G	T	3: 113,407,481 (GRCm39)	T376K	probably benign	Het
Rpe65	A	G	3: 159,310,246 (GRCm39)	Y143C	probably damaging	Het
Sbk2	T	C	7: 4,966,148 (GRCm39)	E12G	probably benign	Het
Slc2a5	T	C	4: 150,213,526 (GRCm39)	I106T	possibly damaging	Het
Snx13	A	G	12: 35,135,981 (GRCm39)	D92G	probably damaging	Het
Sorl1	C	T	9: 41,891,984 (GRCm39)	V1889I	probably benign	Het
Spag17	A	T	3: 99,846,563 (GRCm39)	N29I	possibly damaging	Het
Speg	T	C	1: 75,378,108 (GRCm39)	V878A	probably damaging	Het
Timp4	A	G	6: 115,227,421 (GRCm39)	S53P	probably damaging	Het
Tssk1	G	T	16: 17,712,948 (GRCm39)	E244D	probably benign	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Vmn2r85	A	T	10: 130,258,735 (GRCm39)	V440E	probably benign	Het
Wdr59	T	C	8: 112,217,001 (GRCm39)	D270G		Het
Zbbx	G	A	3: 74,992,826 (GRCm39)	P223S	probably damaging	Het
Zfp936	T	A	7: 42,839,239 (GRCm39)	C235*	probably null	Het
Zranb3	A	T	1: 127,960,584 (GRCm39)		probably null	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
R7287:Ap5z1	UTSW	5	142,459,802 (GRCm39)	missense	probably damaging	0.99
R7407:Ap5z1	UTSW	5	142,452,330 (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'- ATCCCAAGGTACCCAGCTAG -3'
(R):5'- TTCAGGTGGTGACTGTCCCTTC -3'

Sequencing Primer
(F):5'- CTAGGAAGCACAGAGAAACCCATAG -3'
(R):5'- GGTGACTGTCCCTTCAACCTGG -3'

Posted On

2019-10-17