Mutagenetix > Incidental Mutation

Incidental Mutation 'R7894:Ap5z1'

609515

Institutional Source

Beutler Lab

Gene Symbol

Ap5z1

Ensembl Gene

ENSMUSG00000039623

Gene Name

adaptor-related protein complex 5, zeta 1 subunit

Synonyms

C330006K01Rik

MMRRC Submission

045946-MU

Accession Numbers

Essential gene?

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

Stock #

R7894 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142449699-142464465 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 142452039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 23 (R23L)

Ref Sequence

ENSEMBL: ENSMUSP00000041863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038699] [ENSMUST00000072837] [ENSMUST00000196055] [ENSMUST00000197173] [ENSMUST00000198967]

AlphaFold

Q3U829

Predicted Effect

probably benign
Transcript: ENSMUST00000038699
AA Change: R23L

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041863
Gene: ENSMUSG00000039623
AA Change: R23L

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: ENSMUST00000072837

SMART Domains

Protein: ENSMUSP00000072616
Gene: ENSMUSG00000056493

Domain	Start	End	E-Value	Type
low complexity region	10	17	N/A	INTRINSIC
low complexity region	19	84	N/A	INTRINSIC
FHA	108	161	1.14e-9	SMART
low complexity region	261	281	N/A	INTRINSIC
FH	289	380	1.31e-50	SMART
Blast:FH	402	458	8e-28	BLAST
low complexity region	627	642	N/A	INTRINSIC
low complexity region	652	687	N/A	INTRINSIC
low complexity region	696	713	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196055
AA Change: R23L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143179
Gene: ENSMUSG00000039623
AA Change: R23L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197173
AA Change: R23L

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142777
Gene: ENSMUSG00000039623
AA Change: R23L

Domain	Start	End	E-Value	Type
low complexity region	74	93	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000198967
AA Change: V20F

SMART Domains

Protein: ENSMUSP00000143040
Gene: ENSMUSG00000039623
AA Change: V20F

Domain	Start	End	E-Value	Type
low complexity region	44	54	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 109,997,415 (GRCm39)	M1551T	possibly damaging	Het
Abcc9	A	G	6: 142,539,733 (GRCm39)	*1547Q	probably null	Het
Adamts20	A	C	15: 94,249,641 (GRCm39)	C459G	probably damaging	Het
Adamts5	C	T	16: 85,674,808 (GRCm39)	W452*	probably null	Het
Adcy8	G	T	15: 64,792,054 (GRCm39)	Q301K	possibly damaging	Het
Adgrv1	A	C	13: 81,715,570 (GRCm39)	C873G	probably benign	Het
Ak9	A	G	10: 41,296,535 (GRCm39)	D1427G	unknown	Het
Amy2a1	T	A	3: 113,324,190 (GRCm39)	M117L	possibly damaging	Het
Astn1	C	A	1: 158,429,508 (GRCm39)	Q759K	probably damaging	Het
Cd276	T	A	9: 58,444,762 (GRCm39)	T70S	possibly damaging	Het
Cd38	C	T	5: 44,057,746 (GRCm39)	T106I	probably damaging	Het
Cdon	C	G	9: 35,388,244 (GRCm39)	R740G	probably damaging	Het
Clk2	C	T	3: 89,076,201 (GRCm39)	R124W	possibly damaging	Het
Cyp1b1	C	T	17: 80,021,644 (GRCm39)	V33M	possibly damaging	Het
Dab1	T	A	4: 104,589,335 (GRCm39)	D547E	probably benign	Het
Degs1	A	T	1: 182,104,416 (GRCm39)	Y290N	probably damaging	Het
Degs1	G	C	1: 182,104,417 (GRCm39)	H289Q	probably benign	Het
Dop1b	T	A	16: 93,607,092 (GRCm39)	C2249S	probably benign	Het
Ecpas	T	C	4: 58,853,708 (GRCm39)	N361S	probably damaging	Het
Ehd4	A	C	2: 119,932,909 (GRCm39)	Y172*	probably null	Het
Erc2	A	G	14: 27,499,165 (GRCm39)	D347G	probably damaging	Het
Espl1	T	G	15: 102,212,460 (GRCm39)	V522G	probably damaging	Het
Fabp9	T	A	3: 10,262,227 (GRCm39)	T10S	probably benign	Het
Fam193a	T	C	5: 34,597,877 (GRCm39)	I558T	possibly damaging	Het
Fhod1	T	C	8: 106,057,789 (GRCm39)	E912G	probably damaging	Het
Gja1	T	C	10: 56,264,645 (GRCm39)	F335L	possibly damaging	Het
Gm29106	A	G	1: 118,127,265 (GRCm39)	H319R	probably damaging	Het
Hunk	C	T	16: 90,269,353 (GRCm39)	S299F	probably damaging	Het
Hydin	C	T	8: 111,239,642 (GRCm39)	T1974M	possibly damaging	Het
Ighv10-1	T	A	12: 114,442,650 (GRCm39)	T112S	probably damaging	Het
Ireb2	T	A	9: 54,789,620 (GRCm39)	V98E	probably damaging	Het
Irf4	A	C	13: 30,937,435 (GRCm39)	H167P	probably benign	Het
Irf6	C	T	1: 192,845,021 (GRCm39)	P164L	probably benign	Het
Josd1	A	G	15: 79,561,451 (GRCm39)	I119T	probably damaging	Het
Kcna5	G	T	6: 126,512,011 (GRCm39)	T39K	probably damaging	Het
Klhl24	A	G	16: 19,941,750 (GRCm39)	D566G	probably damaging	Het
Kmt2a	T	A	9: 44,761,154 (GRCm39)	K232*	probably null	Het
Krt36	A	G	11: 99,996,061 (GRCm39)	L121P	probably damaging	Het
Lama3	A	T	18: 12,595,864 (GRCm39)	H931L	probably benign	Het
Lamp3	A	T	16: 19,474,141 (GRCm39)	I411N	probably damaging	Het
Lingo3	C	T	10: 80,670,610 (GRCm39)	W440*	probably null	Het
Mia2	T	C	12: 59,236,433 (GRCm39)	Y712H	probably damaging	Het
Mlh1	T	A	9: 111,059,145 (GRCm39)		probably null	Het
Mta3	T	A	17: 84,070,363 (GRCm39)	S174T	probably benign	Het
Myo15a	A	G	11: 60,381,963 (GRCm39)	T347A		Het
Naaladl2	C	T	3: 23,900,718 (GRCm39)	R704H	possibly damaging	Het
Nfib	T	C	4: 82,246,030 (GRCm39)	N394S	probably benign	Het
Nr2f2	A	G	7: 70,009,681 (GRCm39)	Y133H	probably damaging	Het
Or2ak7	C	T	11: 58,575,500 (GRCm39)	S267F	possibly damaging	Het
Or2i1	C	T	17: 37,508,047 (GRCm39)	E196K	probably damaging	Het
Or4c115	A	G	2: 88,927,932 (GRCm39)	V113A	possibly damaging	Het
Or4f61	A	T	2: 111,922,822 (GRCm39)	C75S	probably benign	Het
Or5p62	T	A	7: 107,771,391 (GRCm39)	M187L	probably benign	Het
Phgdh	C	A	3: 98,247,124 (GRCm39)	V9L	probably damaging	Het
Pkd2	T	A	5: 104,628,103 (GRCm39)	D392E	probably damaging	Het
Plekhm3	A	G	1: 64,960,874 (GRCm39)	S461P	probably benign	Het
Prss39	A	G	1: 34,539,308 (GRCm39)	T183A	probably benign	Het
Pter	T	A	2: 12,999,566 (GRCm39)	I235K	probably damaging	Het
Ptp4a3	T	C	15: 73,628,756 (GRCm39)	V172A	probably benign	Het
Rasa2	T	C	9: 96,484,780 (GRCm39)	N145D	probably benign	Het
Rasal2	A	T	1: 157,071,218 (GRCm39)	H45Q	probably benign	Het
Rbm43	A	G	2: 51,815,909 (GRCm39)	V104A	probably damaging	Het
Rhbdd2	C	A	5: 135,667,969 (GRCm39)		probably null	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rimbp2	T	A	5: 128,838,528 (GRCm39)	N1023I	probably damaging	Het
Rtl1	A	T	12: 109,561,031 (GRCm39)	D269E	possibly damaging	Het
Sbp	A	G	17: 24,161,163 (GRCm39)		probably benign	Het
Sorbs1	T	A	19: 40,316,020 (GRCm39)	T374S	probably benign	Het
Tgs1	A	T	4: 3,598,652 (GRCm39)	K655I	probably benign	Het
Thsd1	A	C	8: 22,749,585 (GRCm39)	T819P	probably damaging	Het
Tmprss11c	C	T	5: 86,379,655 (GRCm39)	V418M	probably damaging	Het
Top2a	A	T	11: 98,900,431 (GRCm39)	D645E	probably damaging	Het
Top2b	G	A	14: 16,413,081 (GRCm38)	V997I	possibly damaging	Het
Ttc34	A	G	4: 154,943,840 (GRCm39)	D118G	probably damaging	Het
Ttll5	A	G	12: 85,935,948 (GRCm39)	D353G	probably damaging	Het
Uba6	A	T	5: 86,265,924 (GRCm39)	Y994*	probably null	Het
Vinac1	A	C	2: 128,879,049 (GRCm39)	V959G	unknown	Het
Vmn1r189	A	T	13: 22,285,906 (GRCm39)	Y310*	probably null	Het
Vps13c	T	A	9: 67,834,265 (GRCm39)	I1644N	probably damaging	Het
Zfp811	T	C	17: 33,017,821 (GRCm39)	D73G	possibly damaging	Het
Zfp951	A	T	5: 104,962,838 (GRCm39)	C243S	probably benign	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
R7537:Ap5z1	UTSW	5	142,463,053 (GRCm39)	missense	probably benign	0.06
R7894:Ap5z1	UTSW	5	142,456,191 (GRCm39)	nonsense	probably null
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'- AGCTGTACGCCTCACCATTAATG -3'
(R):5'- ACTGGCATCTCAGGAAAGCTG -3'

Sequencing Primer
(F):5'- CACTAGGAAACTGGGGGTGCTG -3'
(R):5'- CATCTCAGGAAAGCTGGCTGG -3'

Posted On

2019-12-20