Mutagenetix > Incidental Mutation

Incidental Mutation 'R7305:Apba3'

567251

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

045407-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.523) question?

Stock #

R7305 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81102799-81109081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81107067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 264 (D264G)

Ref Sequence

ENSEMBL: ENSMUSP00000050995 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000057798
AA Change: D264G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050995
Gene: ENSMUSG00000004931
AA Change: D264G

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

probably benign
Transcript: ENSMUST00000218297

Predicted Effect

probably benign
Transcript: ENSMUST00000218742

Predicted Effect

probably benign
Transcript: ENSMUST00000219304

Predicted Effect

probably damaging
Transcript: ENSMUST00000219460
AA Change: D49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000219479

Predicted Effect

probably damaging
Transcript: ENSMUST00000220297
AA Change: D264G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	T	2: 181,135,209 (GRCm39)	D37V	possibly damaging	Het
Ankhd1	A	G	18: 36,765,258 (GRCm39)	D87G		Het
Ankrd31	A	G	13: 97,015,479 (GRCm39)	S1583G	probably damaging	Het
Ankub1	T	C	3: 57,599,938 (GRCm39)		probably benign	Het
Armh3	A	T	19: 45,880,560 (GRCm39)	M508K	probably benign	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Cnot3	A	T	7: 3,648,479 (GRCm39)		probably benign	Het
Cxxc1	A	G	18: 74,352,467 (GRCm39)	Y349C	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,577,937 (GRCm39)		probably null	Het
Cyp3a57	A	G	5: 145,307,795 (GRCm39)	I184V	probably benign	Het
D130052B06Rik	GTCTACACTGTCCTGCACAGGTGACCCATCTACCCCGTCCTATCCTGGCGACCCATCTACACTGTCCTG	GTCTACACTGTCCTG	11: 33,573,355 (GRCm39)		probably null	Het
Dab1	T	A	4: 104,570,987 (GRCm39)	D210E		Het
Elavl1	G	A	8: 4,375,199 (GRCm39)		probably benign	Het
Emilin1	C	T	5: 31,074,433 (GRCm39)	Q225*	probably null	Het
Eml6	G	T	11: 29,727,258 (GRCm39)	A1288E	probably benign	Het
Eno1	T	C	4: 150,329,796 (GRCm39)		probably null	Het
Eprs1	C	T	1: 185,111,898 (GRCm39)	R303C	probably damaging	Het
Eps15l1	G	A	8: 73,126,878 (GRCm39)	A651V	probably benign	Het
Etl4	A	T	2: 20,714,368 (GRCm39)	I156F	probably damaging	Het
Faim2	A	T	15: 99,411,814 (GRCm39)	I171N	probably damaging	Het
Fam135a	T	A	1: 24,069,939 (GRCm39)	N381I	probably damaging	Het
Fhip1a	G	T	3: 85,637,831 (GRCm39)	P156Q	probably damaging	Het
Gabrg3	T	A	7: 56,384,833 (GRCm39)	M243L	probably benign	Het
Garin2	A	G	12: 78,761,809 (GRCm39)	K158E	possibly damaging	Het
Gm5134	A	G	10: 75,836,233 (GRCm39)	I405V	probably damaging	Het
Gm9376	A	T	14: 118,504,768 (GRCm39)	K67*	probably null	Het
Grm8	A	T	6: 27,761,354 (GRCm39)	I290K	possibly damaging	Het
Hao1	T	A	2: 134,390,121 (GRCm39)	M73L	probably benign	Het
Herc1	A	G	9: 66,369,150 (GRCm39)	D452G		Het
Idh3b	C	A	2: 130,123,413 (GRCm39)	K192N	possibly damaging	Het
Igkv6-23	A	G	6: 70,237,553 (GRCm39)	S63P	probably benign	Het
Itgb2	A	C	10: 77,384,398 (GRCm39)	D173A	probably damaging	Het
Jmjd8	A	T	17: 26,049,301 (GRCm39)	T255S	probably benign	Het
Lamc3	A	C	2: 31,820,714 (GRCm39)	E1243A	probably benign	Het
Map1a	A	G	2: 121,129,939 (GRCm39)	T252A	probably damaging	Het
Mrgpra1	C	A	7: 46,985,203 (GRCm39)	A159S	probably benign	Het
Ndst3	T	C	3: 123,395,131 (GRCm39)	I500V	possibly damaging	Het
Nhsl1	A	G	10: 18,407,434 (GRCm39)	T1523A	possibly damaging	Het
Nr2f1	A	G	13: 78,343,298 (GRCm39)	I322T	probably damaging	Het
Nup210	T	C	6: 91,064,948 (GRCm39)	E184G	probably damaging	Het
Obsl1	C	T	1: 75,470,590 (GRCm39)	W1022*	probably null	Het
Or2l13	T	A	16: 19,306,449 (GRCm39)	I287N	probably damaging	Het
Or4a77	T	A	2: 89,486,846 (GRCm39)	H313L	probably benign	Het
Or52p2	G	T	7: 102,237,162 (GRCm39)	Q263K	possibly damaging	Het
Or5p51	A	T	7: 107,444,572 (GRCm39)	Y123N	probably damaging	Het
Or6c1	A	T	10: 129,518,149 (GRCm39)	I153N	probably damaging	Het
Or6c65	T	A	10: 129,603,720 (GRCm39)	Y118*	probably null	Het
Otulinl	A	G	15: 27,658,319 (GRCm39)	C184R	probably benign	Het
Oxr1	C	T	15: 41,677,004 (GRCm39)	P187L	not run	Het
Parp8	A	G	13: 117,031,461 (GRCm39)	L417P	possibly damaging	Het
Pdia6	A	G	12: 17,324,509 (GRCm39)	Q120R	probably benign	Het
Ppp3cc	T	C	14: 70,478,252 (GRCm39)	N290S	probably benign	Het
Prdm5	C	A	6: 65,808,244 (GRCm39)	S63R	possibly damaging	Het
Prr14l	T	C	5: 32,988,445 (GRCm39)	D350G	probably benign	Het
Pwwp2a	T	C	11: 43,607,878 (GRCm39)	L497S	probably damaging	Het
R3hdm2	A	G	10: 127,312,547 (GRCm39)	N430D	probably benign	Het
Rad51ap2	A	G	12: 11,507,344 (GRCm39)	N422S	possibly damaging	Het
Rbbp8	G	A	18: 11,805,638 (GRCm39)		probably null	Het
Rsf1	GGCGGCGGC	GGCGGCGGCAGCGGCGGC	7: 97,229,125 (GRCm39)		probably benign	Het
Slc22a6	G	A	19: 8,599,522 (GRCm39)		probably null	Het
Slc28a3	T	A	13: 58,714,045 (GRCm39)	E440V	possibly damaging	Het
Slc30a5	A	T	13: 100,947,932 (GRCm39)	I482K	probably damaging	Het
Slco1a1	A	T	6: 141,870,223 (GRCm39)	F305Y	probably damaging	Het
Slco1a8	G	A	6: 141,938,220 (GRCm39)	A253V	probably damaging	Het
Slco4c1	T	C	1: 96,756,690 (GRCm39)	N544S	probably damaging	Het
Smpd4	T	A	16: 17,459,647 (GRCm39)	I656N	probably damaging	Het
Spata31h1	A	T	10: 82,120,953 (GRCm39)	I4019K	probably benign	Het
Taok1	A	T	11: 77,432,500 (GRCm39)	L771*	probably null	Het
Tmem231	T	C	8: 112,641,927 (GRCm39)	D209G	possibly damaging	Het
Tmem25	A	G	9: 44,706,705 (GRCm39)		probably null	Het
Tmem79	T	C	3: 88,240,718 (GRCm39)	T77A	probably benign	Het
Topbp1	A	T	9: 103,205,836 (GRCm39)	T825S	probably damaging	Het
Trpm6	A	T	19: 18,853,455 (GRCm39)	Q1825L	probably benign	Het
Uba1y	T	A	Y: 821,348 (GRCm39)	D110E	probably damaging	Het
Utrn	A	T	10: 12,261,280 (GRCm39)	N3422K	probably benign	Het
Vmn1r219	A	T	13: 23,347,314 (GRCm39)	M168L	probably benign	Het
Vmn2r62	T	C	7: 42,414,235 (GRCm39)	H736R	possibly damaging	Het
Wdr1	T	C	5: 38,697,435 (GRCm39)	H291R	possibly damaging	Het
Zan	T	C	5: 137,413,401 (GRCm39)	T3177A	unknown	Het
Zbtb21	T	C	16: 97,752,495 (GRCm39)	H596R	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
R1381:Apba3	UTSW	10	81,107,590 (GRCm39)	missense	possibly damaging	0.76
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
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'- CATCTTCGGGGCGAAATACC -3'
(R):5'- CGATGTAGGAGATGGTCTGC -3'

Sequencing Primer
(F):5'- GCGAAATACCTGGGCTCCAC -3'
(R):5'- TCTGCAGGGCATGGTCCATC -3'

Posted On

2019-06-26