Mutagenetix > Incidental Mutations

Incidental Mutation 'R5044:Apbb1'

394260

Institutional Source

Beutler Lab

Gene Symbol

Apbb1

Ensembl Gene

ENSMUSG00000037032

Gene Name

amyloid beta (A4) precursor protein-binding, family B, member 1

Synonyms

Fe65, Rir

MMRRC Submission

042634-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5044 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

105558483-105581653 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 105565682 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081165] [ENSMUST00000186814] [ENSMUST00000186868] [ENSMUST00000187051] [ENSMUST00000187057] [ENSMUST00000187683] [ENSMUST00000187721] [ENSMUST00000188001] [ENSMUST00000188368] [ENSMUST00000188440] [ENSMUST00000189072] [ENSMUST00000189265] [ENSMUST00000210079] [ENSMUST00000191601] [ENSMUST00000191011] [ENSMUST00000189378] [ENSMUST00000190369]

AlphaFold

Q9QXJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000081165

SMART Domains

Protein: ENSMUSP00000079932
Gene: ENSMUSG00000037032

Domain	Start	End	E-Value	Type
low complexity region	146	184	N/A	INTRINSIC
WW	254	285	6.23e-5	SMART
low complexity region	287	299	N/A	INTRINSIC
PTB	365	512	4.16e-38	SMART
PTB	538	667	1.76e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186814

Predicted Effect

probably benign
Transcript: ENSMUST00000186868

SMART Domains

Protein: ENSMUSP00000140052
Gene: ENSMUSG00000037032

Domain	Start	End	E-Value	Type
Pfam:WW	1	24	1.1e-5	PFAM
low complexity region	28	40	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187051

SMART Domains

Protein: ENSMUSP00000139755
Gene: ENSMUSG00000037032

Domain	Start	End	E-Value	Type
Pfam:WW	1	24	1.4e-5	PFAM
low complexity region	28	40	N/A	INTRINSIC
SCOP:d1shca_	74	120	9e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187057

SMART Domains

Protein: ENSMUSP00000139899
Gene: ENSMUSG00000037032

Domain	Start	End	E-Value	Type
WW	31	62	3.7e-7	SMART
low complexity region	64	76	N/A	INTRINSIC
PTB	142	287	3.8e-41	SMART
PTB	313	442	9.5e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187683

SMART Domains

Protein: ENSMUSP00000139426
Gene: ENSMUSG00000037032

Domain	Start	End	E-Value	Type
Pfam:WW	1	24	2.1e-5	PFAM
low complexity region	28	40	N/A	INTRINSIC
Pfam:PID	111	158	5.9e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187721

SMART Domains

Protein: ENSMUSP00000140192
Gene: ENSMUSG00000037032

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
WW	54	85	3.7e-7	SMART
low complexity region	87	99	N/A	INTRINSIC
Pfam:PID	170	242	1.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188001

Predicted Effect

probably benign
Transcript: ENSMUST00000188368

SMART Domains

Protein: ENSMUSP00000139788
Gene: ENSMUSG00000037032

Domain	Start	End	E-Value	Type
WW	31	62	3.7e-7	SMART
low complexity region	64	76	N/A	INTRINSIC
PTB	142	289	1.8e-40	SMART
PTB	315	444	9.5e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188440

SMART Domains

Protein: ENSMUSP00000140715
Gene: ENSMUSG00000037032

Domain	Start	End	E-Value	Type
Pfam:WW	1	24	3.4e-5	PFAM
low complexity region	28	40	N/A	INTRINSIC
PTB	106	223	1.4e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189072

SMART Domains

Protein: ENSMUSP00000139575
Gene: ENSMUSG00000037032

Domain	Start	End	E-Value	Type
Pfam:WW	1	24	8.1e-5	PFAM
low complexity region	28	40	N/A	INTRINSIC
PTB	106	253	1.8e-40	SMART
PTB	279	408	9.5e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189265

SMART Domains

Protein: ENSMUSP00000140137
Gene: ENSMUSG00000037032

Domain	Start	End	E-Value	Type
Pfam:PID	1	34	2.3e-6	PFAM
PTB	63	192	9.5e-39	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190961

Predicted Effect

probably benign
Transcript: ENSMUST00000210079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191250

Predicted Effect

probably benign
Transcript: ENSMUST00000211614

Predicted Effect

probably benign
Transcript: ENSMUST00000191601

SMART Domains

Protein: ENSMUSP00000140116
Gene: ENSMUSG00000037032

Domain	Start	End	E-Value	Type
low complexity region	146	184	N/A	INTRINSIC
WW	254	285	3.7e-7	SMART
low complexity region	287	299	N/A	INTRINSIC
PTB	365	512	1.8e-40	SMART
PTB	538	667	9.5e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191011

SMART Domains

Protein: ENSMUSP00000140973
Gene: ENSMUSG00000037032

Domain	Start	End	E-Value	Type
low complexity region	146	184	N/A	INTRINSIC
WW	254	285	6.23e-5	SMART
low complexity region	287	299	N/A	INTRINSIC
PTB	365	510	6.86e-39	SMART
PTB	536	665	1.76e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189378

SMART Domains

Protein: ENSMUSP00000140979
Gene: ENSMUSG00000037032

Domain	Start	End	E-Value	Type
low complexity region	146	184	N/A	INTRINSIC
WW	254	285	6.23e-5	SMART
low complexity region	287	299	N/A	INTRINSIC
PTB	365	510	6.86e-39	SMART
PTB	536	665	1.76e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190369

SMART Domains

Protein: ENSMUSP00000140486
Gene: ENSMUSG00000037032

Domain	Start	End	E-Value	Type
Pfam:WW	1	24	8.1e-5	PFAM
low complexity region	28	40	N/A	INTRINSIC
PTB	106	253	1.8e-40	SMART
PTB	279	408	9.5e-39	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (73/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygotes for a null allele are hypersensitive to ionizing radiation while mouse embryonic fibroblasts are hypersensitive to DNA damaging agents. Homozygotes for a second null allele display impaired performance in learning and memory tasks, with a striking deficit in reversal spatial learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,373,323	F3387I	possibly damaging	Het
Acacb	T	A	5: 114,166,027	S170R	probably benign	Het
Adamtsl4	A	G	3: 95,681,650		probably null	Het
Adgrv1	A	G	13: 81,488,931	C3464R	probably benign	Het
Cad	A	G	5: 31,055,021	T23A	probably benign	Het
Cdca7	A	G	2: 72,483,415	R183G	probably benign	Het
Cdpf1	T	C	15: 85,809,312	T5A	probably benign	Het
Cep85	T	C	4: 134,156,179	D133G	probably damaging	Het
Chrna9	T	C	5: 65,971,016	L189P	probably damaging	Het
Clca1	A	C	3: 145,007,928		probably null	Het
Cntn1	G	T	15: 92,242,995	V201F	probably damaging	Het
Col4a3	A	G	1: 82,666,546	E352G	unknown	Het
Ddhd2	T	C	8: 25,752,137	Y237C	probably damaging	Het
Dnah6	A	C	6: 73,037,622	F3609V	probably benign	Het
Epha3	T	C	16: 63,602,287	K580R	possibly damaging	Het
Fam135b	T	C	15: 71,462,711	N878S	probably benign	Het
Fam71e2	T	C	7: 4,758,661	N351D	probably benign	Het
Fbn1	T	G	2: 125,329,102	T1938P	probably damaging	Het
Foxg1	T	C	12: 49,385,186	V234A	probably damaging	Het
Glt1d1	A	T	5: 127,644,414	N55I	probably benign	Het
Gm17641	C	A	3: 68,869,474		probably benign	Het
Gm7665	A	G	18: 16,274,731		noncoding transcript	Het
Hgf	A	C	5: 16,614,894	N541T	probably benign	Het
Hipk2	G	A	6: 38,818,879	P152S	probably benign	Het
Jarid2	C	T	13: 44,906,565	L720F	probably damaging	Het
Kifc5b	A	G	17: 26,924,787	E511G	probably damaging	Het
Ldlr	G	A	9: 21,735,242	A235T	probably benign	Het
Lmln	A	G	16: 33,074,180	D231G	possibly damaging	Het
Lrp1	A	G	10: 127,567,495	C2070R	probably damaging	Het
Mbl1	A	G	14: 41,158,724	T190A	possibly damaging	Het
Mpdz	A	T	4: 81,381,697	S355T	probably benign	Het
Muc19	C	T	15: 91,888,138		noncoding transcript	Het
Mycbp2	A	C	14: 103,139,235		probably null	Het
Naa20	T	C	2: 145,915,842	S164P	probably damaging	Het
Nme4	A	T	17: 26,093,833		probably benign	Het
Npas2	A	T	1: 39,347,506	R619*	probably null	Het
Nudt19	G	A	7: 35,555,746	T20I	possibly damaging	Het
Olfr1224-ps1	T	A	2: 89,156,939	K79*	probably null	Het
Olfr1447	A	G	19: 12,901,001	Y260H	probably damaging	Het
Pitpnc1	A	G	11: 107,296,228	Y90H	possibly damaging	Het
Rcor2	A	G	19: 7,269,785	T6A	probably benign	Het
Rif1	T	A	2: 52,109,928	S1131R	probably damaging	Het
Rtkn	T	A	6: 83,150,991	D377E	probably benign	Het
Rtn4rl2	T	A	2: 84,872,502	N242I	probably damaging	Het
Sbno2	G	A	10: 80,062,188	L719F	probably benign	Het
Scn11a	G	T	9: 119,819,831	D55E	probably damaging	Het
Setd1b	T	A	5: 123,151,866	I632N	unknown	Het
Spaca6	A	G	17: 17,831,196	T45A	probably benign	Het
Srpk2	A	T	5: 23,524,392	D416E	possibly damaging	Het
Sspo	A	T	6: 48,466,955		probably null	Het
Sycp1	A	T	3: 102,845,054	I804N	probably benign	Het
Tdp2	G	A	13: 24,831,826	R32Q	probably benign	Het
Tgfbr3	A	G	5: 107,136,929	V618A	possibly damaging	Het
Tmc3	C	T	7: 83,609,118	P439S	probably benign	Het
Tnxb	A	T	17: 34,717,483	D2740V	probably damaging	Het
Tspyl4	A	G	10: 34,297,937	T142A	probably benign	Het
Ttn	T	C	2: 76,880,441		probably benign	Het
Tubgcp4	T	C	2: 121,173,580	L34P	probably damaging	Het
Tubgcp6	G	T	15: 89,099,545		probably benign	Het
Unc79	T	A	12: 103,112,703	V1690E	probably benign	Het
Vps4b	T	C	1: 106,796,418		probably null	Het
Wtap	A	G	17: 12,967,638	S341P	possibly damaging	Het
Wwc1	T	C	11: 35,883,345	T363A	probably benign	Het
Zbtb8a	G	A	4: 129,360,500	T67M	probably damaging	Het
Zfp865	T	C	7: 5,034,669		probably benign	Het

Other mutations in Apbb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02171:Apbb1	APN	7	105559126	splice site	probably benign
athena	UTSW	7	105566695	missense	probably benign
R0092:Apbb1	UTSW	7	105559154	missense	probably damaging	1.00
R0348:Apbb1	UTSW	7	105565303	missense	probably damaging	0.98
R0633:Apbb1	UTSW	7	105558963	missense	probably damaging	1.00
R0946:Apbb1	UTSW	7	105573855	missense	probably benign	0.09
R1076:Apbb1	UTSW	7	105573855	missense	probably benign	0.09
R1332:Apbb1	UTSW	7	105565543	missense	possibly damaging	0.74
R1658:Apbb1	UTSW	7	105574084	missense	probably damaging	1.00
R1739:Apbb1	UTSW	7	105574227	missense	probably benign
R4230:Apbb1	UTSW	7	105567684	missense	probably damaging	1.00
R4296:Apbb1	UTSW	7	105573826	missense	probably benign	0.16
R4385:Apbb1	UTSW	7	105567276	missense	probably benign	0.00
R4571:Apbb1	UTSW	7	105573762	missense	probably damaging	1.00
R4647:Apbb1	UTSW	7	105565538	missense	probably benign	0.01
R4812:Apbb1	UTSW	7	105574025	missense	probably damaging	0.99
R5109:Apbb1	UTSW	7	105565035	missense	probably damaging	1.00
R5479:Apbb1	UTSW	7	105565025	missense	probably damaging	0.97
R5611:Apbb1	UTSW	7	105559483	missense	probably damaging	1.00
R5677:Apbb1	UTSW	7	105559246	missense	probably damaging	1.00
R5785:Apbb1	UTSW	7	105567715	missense	probably damaging	1.00
R5850:Apbb1	UTSW	7	105567583	missense	probably damaging	1.00
R5896:Apbb1	UTSW	7	105574225	missense	probably damaging	1.00
R6151:Apbb1	UTSW	7	105574252	nonsense	probably null
R6186:Apbb1	UTSW	7	105567726	missense	probably damaging	1.00
R6229:Apbb1	UTSW	7	105573730	missense	probably damaging	0.98
R6229:Apbb1	UTSW	7	105573731	missense	probably damaging	0.98
R6288:Apbb1	UTSW	7	105559227	missense	probably damaging	1.00
R6295:Apbb1	UTSW	7	105566695	missense	probably benign
R6443:Apbb1	UTSW	7	105573763	missense	probably damaging	1.00
R6729:Apbb1	UTSW	7	105565381	missense	probably damaging	1.00
R7130:Apbb1	UTSW	7	105565331	missense	probably damaging	0.98
R7209:Apbb1	UTSW	7	105566085	missense	probably damaging	1.00
R7467:Apbb1	UTSW	7	105566132	missense	probably benign	0.04
R7489:Apbb1	UTSW	7	105567480	missense	probably benign	0.30
R7588:Apbb1	UTSW	7	105573966	missense	probably benign	0.29
R7754:Apbb1	UTSW	7	105559302	missense	probably damaging	0.97
R7768:Apbb1	UTSW	7	105567088	missense	probably benign
R7785:Apbb1	UTSW	7	105567423	missense	probably benign	0.00
R7804:Apbb1	UTSW	7	105566600	missense	probably damaging	1.00
R7809:Apbb1	UTSW	7	105573807	missense	probably benign	0.04
R7995:Apbb1	UTSW	7	105565645	missense	probably benign	0.09
R9206:Apbb1	UTSW	7	105559520	missense	probably damaging	0.97
R9208:Apbb1	UTSW	7	105559520	missense	probably damaging	0.97
R9225:Apbb1	UTSW	7	105568856	missense
Z1088:Apbb1	UTSW	7	105559136	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTAGAGCAAAGGTGACAGC -3'
(R):5'- AAGCACCAAGGCTCCCTTTC -3'

Sequencing Primer
(F):5'- TGACAGCTAGTTAAGGGAGTGG -3'
(R):5'- AAGGCTCCCTTTCTGTGTG -3'

Posted On

2016-06-15