Mutagenetix > Incidental Mutation

Incidental Mutation 'R1381:Apba3'

163040

Institutional Source

Beutler Lab

Gene Symbol

Apba3

Ensembl Gene

ENSMUSG00000004931

Gene Name

amyloid beta precursor protein binding family A member 3

Synonyms

Mint 3, Mint-3, X11gamma, lin-10, neuron-specific X11L2 protein, neuronal munc18-1-interacting protein 3

MMRRC Submission

039443-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.453) question?

Stock #

R1381 (G1)

Quality Score

142

Status

Not validated

Chromosome

Chromosomal Location

81102799-81109081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81107590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 142 (T142M)

Ref Sequence

ENSEMBL: ENSMUSP00000151423 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045744] [ENSMUST00000046114] [ENSMUST00000057798] [ENSMUST00000220297] [ENSMUST00000219460] [ENSMUST00000218742] [ENSMUST00000219304] [ENSMUST00000219479]

AlphaFold

O88888

Predicted Effect

probably benign
Transcript: ENSMUST00000045744

SMART Domains

Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917

Domain	Start	End	E-Value	Type
PDZ	20	93	2.81e-18	SMART
low complexity region	119	162	N/A	INTRINSIC
PDZ	196	264	2.71e-11	SMART
low complexity region	297	305	N/A	INTRINSIC
PDZ	378	451	4.97e-19	SMART
SH3	466	539	9.96e-2	SMART
low complexity region	548	559	N/A	INTRINSIC
GuKc	570	756	6.9e-46	SMART
Blast:GuKc	767	898	9e-27	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000046114

SMART Domains

Protein: ENSMUSP00000039951
Gene: ENSMUSG00000034932

Domain	Start	End	E-Value	Type
low complexity region	36	54	N/A	INTRINSIC
Pfam:Ribosomal_L37	60	103	4.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057798
AA Change: T366M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000050995
Gene: ENSMUSG00000004931
AA Change: T366M

Domain	Start	End	E-Value	Type
low complexity region	5	14	N/A	INTRINSIC
low complexity region	98	120	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
PTB	213	359	3.03e-40	SMART
PDZ	400	478	3.74e-14	SMART
PDZ	492	557	9.58e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217754

Predicted Effect

probably benign
Transcript: ENSMUST00000220297
AA Change: T366M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219460
AA Change: T142M

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000218742

Predicted Effect

probably benign
Transcript: ENSMUST00000219304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219294

Predicted Effect

probably benign
Transcript: ENSMUST00000218297

Predicted Effect

probably benign
Transcript: ENSMUST00000219479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218146

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.2%

Validation Efficiency

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 X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Deletion in mutants causes abnormalities in colon morphology and physiology, increased circulating blood urea nitrogen, and decreased serum chloride, sodium and potassium levels. Surviving homozygotes display diarrhea, postnatal viability and decreased life span. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,561,430 (GRCm39)	F252L	probably benign	Het
Aadac	A	T	3: 59,947,351 (GRCm39)	M350L	probably damaging	Het
Agtrap	G	A	4: 148,168,422 (GRCm39)	T19I	probably damaging	Het
Cd55b	T	A	1: 130,347,412 (GRCm39)	K133I	probably damaging	Het
Cep295	A	C	9: 15,233,861 (GRCm39)	C2312G	probably benign	Het
Ces1a	A	G	8: 93,760,659 (GRCm39)	V231A	probably damaging	Het
Chdh	C	A	14: 29,758,791 (GRCm39)	L579I	probably damaging	Het
Cyb5r4	T	A	9: 86,904,286 (GRCm39)	S19T	probably benign	Het
Cyp2d22	C	A	15: 82,256,709 (GRCm39)	R355L	probably benign	Het
Dach2	T	C	X: 112,208,472 (GRCm39)	Y117H	probably damaging	Het
Dennd4c	G	A	4: 86,692,769 (GRCm39)	R93K	probably benign	Het
Dph2	G	T	4: 117,746,865 (GRCm39)	L452I	probably damaging	Het
Exoc6b	T	C	6: 84,812,099 (GRCm39)	D634G	probably benign	Het
Fam217b	G	A	2: 178,062,218 (GRCm39)	V61I	probably benign	Het
Fbln7	A	C	2: 128,719,299 (GRCm39)	Q32P	probably damaging	Het
Fgfr1op2	A	G	6: 146,490,239 (GRCm39)	Y46C	probably damaging	Het
Fhod3	T	A	18: 25,223,528 (GRCm39)	I958N	probably damaging	Het
Foxp2	T	A	6: 15,409,765 (GRCm39)	M455K	possibly damaging	Het
Gabrr2	G	A	4: 33,081,420 (GRCm39)	G152D	probably damaging	Het
Galntl6	G	T	8: 58,925,989 (GRCm39)	P92Q	probably damaging	Het
Gm5592	A	T	7: 40,935,596 (GRCm39)	T33S	probably benign	Het
Grid2ip	A	T	5: 143,348,406 (GRCm39)	T166S	probably benign	Het
Grsf1	G	A	5: 88,813,723 (GRCm39)	S225L	probably benign	Het
Hadha	G	T	5: 30,333,834 (GRCm39)	T395K	probably benign	Het
Hars2	C	T	18: 36,922,270 (GRCm39)	A295V	possibly damaging	Het
Hsf5	T	A	11: 87,528,995 (GRCm39)	S577T	probably benign	Het
Ice2	A	G	9: 69,307,809 (GRCm39)	Y31C	probably damaging	Het
Ift80	A	T	3: 68,822,116 (GRCm39)	I643N	possibly damaging	Het
Iglon5	A	T	7: 43,126,064 (GRCm39)	D222E	probably benign	Het
Ilvbl	C	A	10: 78,412,430 (GRCm39)	S50R	probably damaging	Het
Invs	C	A	4: 48,421,942 (GRCm39)	S858*	probably null	Het
Ipo13	T	G	4: 117,761,592 (GRCm39)	T508P	probably damaging	Het
Itgb4	T	C	11: 115,885,163 (GRCm39)	I1015T	probably benign	Het
Kank4	A	T	4: 98,668,175 (GRCm39)	W91R	probably damaging	Het
Kansl1l	C	T	1: 66,760,063 (GRCm39)	A906T	probably benign	Het
Klk4	G	A	7: 43,534,706 (GRCm39)	V222M	probably damaging	Het
Lipo4	T	A	19: 33,476,741 (GRCm39)	M336L	probably benign	Het
Lrig1	T	C	6: 94,583,111 (GRCm39)	N1002D	probably benign	Het
Lzts3	A	G	2: 130,477,219 (GRCm39)	S524P	probably damaging	Het
Maz	A	T	7: 126,622,324 (GRCm39)	C409*	probably null	Het
Mmp24	A	T	2: 155,656,047 (GRCm39)	Q495L	possibly damaging	Het
Mrgpra9	C	T	7: 46,885,050 (GRCm39)	V206I	possibly damaging	Het
Myof	A	G	19: 37,983,933 (GRCm39)	Y124H	probably damaging	Het
Nalcn	A	T	14: 123,551,517 (GRCm39)	V1030D	probably damaging	Het
Neb	T	A	2: 52,150,544 (GRCm39)	I2495F	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nrbf2	G	A	10: 67,103,605 (GRCm39)	T166M	probably damaging	Het
Nup153	T	C	13: 46,842,657 (GRCm39)	D837G	probably damaging	Het
Nup210	C	A	6: 91,052,942 (GRCm39)	G331V	probably damaging	Het
Or5b97	T	C	19: 12,878,320 (GRCm39)	T275A	probably benign	Het
Or5w18	T	C	2: 87,633,480 (GRCm39)	L245P	probably damaging	Het
Or6z7	A	G	7: 6,484,008 (GRCm39)		probably null	Het
Or8b56	T	A	9: 38,739,634 (GRCm39)	S210T	probably benign	Het
Pabpc4	T	A	4: 123,182,852 (GRCm39)	L163H	probably damaging	Het
Pcdh7	T	A	5: 57,878,882 (GRCm39)	Y126*	probably null	Het
Pdzd2	A	G	15: 12,385,525 (GRCm39)	S1082P	probably benign	Het
Pkd2l1	T	C	19: 44,138,902 (GRCm39)	I649M	probably benign	Het
Plcl2	G	A	17: 50,914,757 (GRCm39)	E589K	probably damaging	Het
Plppr1	C	A	4: 49,337,674 (GRCm39)	T325N	possibly damaging	Het
Prss8	GCTGCCCAAGTCCC	GC	7: 127,529,021 (GRCm39)		probably benign	Het
Ptcd2	A	G	13: 99,481,105 (GRCm39)	S25P	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rusc2	T	A	4: 43,416,137 (GRCm39)	V481E	probably damaging	Het
Sephs2	G	T	7: 126,872,139 (GRCm39)	T318K	probably damaging	Het
Sf3b1	T	A	1: 55,042,313 (GRCm39)	I497L	probably damaging	Het
Slc30a7	C	T	3: 115,750,519 (GRCm39)		probably null	Het
Slc66a2	T	G	18: 80,326,529 (GRCm39)	S126A	probably benign	Het
Smarca2	T	C	19: 26,608,228 (GRCm39)	S96P	probably damaging	Het
Spata31d1c	A	C	13: 65,184,368 (GRCm39)	I637L	probably benign	Het
Ston2	A	T	12: 91,707,266 (GRCm39)	S115T	probably damaging	Het
Tal2	A	C	4: 53,785,999 (GRCm39)	E60A	probably benign	Het
Tdpoz3	A	T	3: 93,733,447 (GRCm39)	T41S	probably benign	Het
Tent4b	T	A	8: 88,969,937 (GRCm39)	M203K	possibly damaging	Het
Tespa1	T	C	10: 130,196,560 (GRCm39)	I166T	probably benign	Het
Thsd7a	A	T	6: 12,555,438 (GRCm39)	C149S	probably damaging	Het
Trav6-1	T	A	14: 52,875,967 (GRCm39)		probably benign	Het
Txnl4a	T	C	18: 80,250,479 (GRCm39)	V25A	probably benign	Het
Utp4	C	A	8: 107,632,908 (GRCm39)	P297Q	probably benign	Het
Vmn1r34	T	C	6: 66,613,922 (GRCm39)	Y272C	probably damaging	Het
Vmn2r112	A	T	17: 22,837,467 (GRCm39)	I643F	probably damaging	Het
Vmn2r121	C	A	X: 123,037,837 (GRCm39)	G728W	probably damaging	Het
Vmn2r24	T	A	6: 123,763,692 (GRCm39)	S190T	probably damaging	Het
Zfp507	A	G	7: 35,475,435 (GRCm39)	V926A	possibly damaging	Het

Other mutations in Apba3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Apba3	APN	10	81,108,901 (GRCm39)	missense	probably damaging	1.00
IGL00332:Apba3	APN	10	81,108,901 (GRCm39)	missense	probably damaging	1.00
IGL01577:Apba3	APN	10	81,108,053 (GRCm39)	missense	probably damaging	1.00
IGL01924:Apba3	APN	10	81,108,907 (GRCm39)	missense	probably benign	0.01
IGL02655:Apba3	APN	10	81,108,788 (GRCm39)	missense	probably benign	0.20
IGL03163:Apba3	APN	10	81,105,057 (GRCm39)	splice site	probably null
R2073:Apba3	UTSW	10	81,105,128 (GRCm39)	missense	probably benign
R2114:Apba3	UTSW	10	81,108,946 (GRCm39)	missense	probably damaging	1.00
R2196:Apba3	UTSW	10	81,107,542 (GRCm39)	missense	probably damaging	1.00
R3773:Apba3	UTSW	10	81,108,443 (GRCm39)	splice site	probably null
R4895:Apba3	UTSW	10	81,107,117 (GRCm39)	critical splice donor site	probably null
R4936:Apba3	UTSW	10	81,105,204 (GRCm39)	splice site	probably null
R6576:Apba3	UTSW	10	81,108,925 (GRCm39)	missense	probably benign	0.04
R7141:Apba3	UTSW	10	81,108,889 (GRCm39)	missense	probably damaging	1.00
R7305:Apba3	UTSW	10	81,107,067 (GRCm39)	missense	probably damaging	1.00
R7498:Apba3	UTSW	10	81,104,735 (GRCm39)	missense	possibly damaging	0.55
R7599:Apba3	UTSW	10	81,108,180 (GRCm39)	missense	probably damaging	0.99
R8399:Apba3	UTSW	10	81,104,832 (GRCm39)	missense	probably benign	0.21
R8791:Apba3	UTSW	10	81,105,104 (GRCm39)	missense	probably benign	0.00
R8974:Apba3	UTSW	10	81,109,032 (GRCm39)	missense
R9159:Apba3	UTSW	10	81,106,867 (GRCm39)	missense
X0020:Apba3	UTSW	10	81,106,883 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCACTCAGAGGATGTGAGCAGC -3'
(R):5'- ATGCAAACCTGGGAGCAGAACC -3'

Sequencing Primer
(F):5'- GAACCCTTGACTTAGAAACCTTG -3'
(R):5'- CCCATTCAGGGGAAGTGTG -3'

Posted On

2014-03-17