Incidental Mutation 'R1714:Apba1'
ID 190907
Institutional Source Beutler Lab
Gene Symbol Apba1
Ensembl Gene ENSMUSG00000024897
Gene Name amyloid beta precursor protein binding family A member 1
Synonyms Lin-10, Mint1, X11, X11alpha, 6430513E09Rik, Mint
MMRRC Submission 039747-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1714 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 23736251-23926960 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23922316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 795 (E795K)
Ref Sequence ENSEMBL: ENSMUSP00000025830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025830]
AlphaFold B2RUJ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000025830
AA Change: E795K

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025830
Gene: ENSMUSG00000024897
AA Change: E795K

DomainStartEndE-ValueType
low complexity region 40 47 N/A INTRINSIC
low complexity region 59 74 N/A INTRINSIC
low complexity region 129 149 N/A INTRINSIC
low complexity region 404 421 N/A INTRINSIC
PTB 461 626 9.49e-33 SMART
PDZ 670 748 3.09e-15 SMART
PDZ 762 828 2.53e-11 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.5%
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 a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Animals carrying a homozygous mutation of this gene have reduced body size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,464,479 (GRCm39) T892I possibly damaging Het
Abcb11 A C 2: 69,136,925 (GRCm39) F179V probably damaging Het
Adgrg6 G T 10: 14,315,514 (GRCm39) Q597K possibly damaging Het
Ankmy1 G T 1: 92,812,916 (GRCm39) Y464* probably null Het
Aqp12 T A 1: 92,934,681 (GRCm39) V186D possibly damaging Het
Brd8 A T 18: 34,742,886 (GRCm39) S253R probably damaging Het
Cdc42se2 A T 11: 54,631,112 (GRCm39) S2R possibly damaging Het
Chd9 A C 8: 91,760,853 (GRCm39) probably benign Het
Clk4 C T 11: 51,171,245 (GRCm39) H219Y probably damaging Het
Cngb1 A G 8: 95,984,559 (GRCm39) Y417H probably damaging Het
Cr2 A T 1: 194,833,994 (GRCm39) F932I possibly damaging Het
Cxxc1 C A 18: 74,352,934 (GRCm39) R415S probably damaging Het
Dclk2 G A 3: 86,813,400 (GRCm39) A182V probably benign Het
Ddx11 T G 17: 66,455,754 (GRCm39) W718G probably damaging Het
Dmd A C X: 83,008,356 (GRCm39) T2069P probably benign Het
Dnai1 T C 4: 41,632,164 (GRCm39) F533L probably benign Het
Dnajc5b A T 3: 19,633,265 (GRCm39) R163* probably null Het
Dynll2 T A 11: 87,874,838 (GRCm39) probably null Het
Ercc5 A G 1: 44,206,499 (GRCm39) T471A probably benign Het
Fan1 T C 7: 64,016,435 (GRCm39) D563G probably benign Het
Fbxo34 A G 14: 47,766,658 (GRCm39) Y6C probably damaging Het
Fcrl5 T A 3: 87,353,713 (GRCm39) S353T probably damaging Het
Gabrb3 A T 7: 57,415,176 (GRCm39) Y82F probably damaging Het
Gm20939 C A 17: 95,183,234 (GRCm39) P157T probably damaging Het
H2bc1 T C 13: 24,117,935 (GRCm39) T69A probably benign Het
Haus3 A T 5: 34,321,041 (GRCm39) H468Q probably benign Het
Il20ra T C 10: 19,631,576 (GRCm39) V259A probably damaging Het
Isg15 A T 4: 156,284,414 (GRCm39) V38E probably damaging Het
Kcnq3 A G 15: 65,871,912 (GRCm39) S586P probably benign Het
Kl A T 5: 150,876,798 (GRCm39) Y206F probably benign Het
Klk1b24 C A 7: 43,840,939 (GRCm39) D122E probably damaging Het
Kmt2d A C 15: 98,760,831 (GRCm39) S840A unknown Het
Krt34 A G 11: 99,930,953 (GRCm39) S150P possibly damaging Het
Lamc3 A G 2: 31,830,769 (GRCm39) K1502R probably benign Het
Letm1 G T 5: 33,918,228 (GRCm39) R306S possibly damaging Het
Lnx1 C T 5: 74,768,398 (GRCm39) G397S probably null Het
Lrrc8c A G 5: 105,755,157 (GRCm39) T311A possibly damaging Het
Mpeg1 A T 19: 12,440,198 (GRCm39) D552V probably damaging Het
Myh11 C T 16: 14,054,232 (GRCm39) probably null Het
Ndufa9 T C 6: 126,799,154 (GRCm39) probably null Het
Or4e5 A C 14: 52,727,871 (GRCm39) probably null Het
Or4f4b A T 2: 111,314,008 (GRCm39) I78F probably damaging Het
Or8s8 G A 15: 98,354,614 (GRCm39) C141Y probably damaging Het
Polr3d A C 14: 70,678,755 (GRCm39) M117R possibly damaging Het
Ppp5c T C 7: 16,742,628 (GRCm39) I237V probably benign Het
Prrc2c G A 1: 162,504,945 (GRCm39) T2632M probably damaging Het
Ptprg C A 14: 12,213,697 (GRCm38) Q1022K probably damaging Het
Pus10 T A 11: 23,675,542 (GRCm39) H471Q probably damaging Het
Ralgapa1 A G 12: 55,689,174 (GRCm39) V1928A probably damaging Het
Rbpms2 CACT CACTACT 9: 65,558,947 (GRCm39) probably benign Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Rfpl4 T G 7: 5,113,357 (GRCm39) T269P probably benign Het
Rgs10 A G 7: 128,004,946 (GRCm39) V72A probably damaging Het
Rsph1 T C 17: 31,474,190 (GRCm39) N289S probably benign Het
Sbk2 T C 7: 4,966,121 (GRCm39) D21G probably benign Het
Shbg A T 11: 69,507,983 (GRCm39) D127E possibly damaging Het
Spag16 A G 1: 69,882,164 (GRCm39) E52G probably damaging Het
Ssh2 G A 11: 77,344,850 (GRCm39) G945D possibly damaging Het
Sstr3 A T 15: 78,424,473 (GRCm39) D91E probably damaging Het
Syne2 C A 12: 76,101,713 (GRCm39) A669E probably benign Het
Traf3 A G 12: 111,208,907 (GRCm39) I109V probably benign Het
Ube2j1 A G 4: 33,049,886 (GRCm39) T295A probably damaging Het
Usp46 A G 5: 74,163,828 (GRCm39) V276A probably benign Het
Vmn1r200 T C 13: 22,579,640 (GRCm39) S139P possibly damaging Het
Ydjc G A 16: 16,965,663 (GRCm39) V143M probably damaging Het
Zfp169 T C 13: 48,652,330 (GRCm39) E29G probably benign Het
Zfp292 A G 4: 34,808,935 (GRCm39) S1370P probably damaging Het
Zfp763 C T 17: 33,238,591 (GRCm39) D185N probably damaging Het
Zfp827 A T 8: 79,787,202 (GRCm39) N123Y probably damaging Het
Zfp979 A T 4: 147,698,442 (GRCm39) I89N probably damaging Het
Zfr2 T C 10: 81,080,583 (GRCm39) L419P probably damaging Het
Other mutations in Apba1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Apba1 APN 19 23,894,950 (GRCm39) missense possibly damaging 0.95
IGL01991:Apba1 APN 19 23,914,836 (GRCm39) missense possibly damaging 0.80
IGL02048:Apba1 APN 19 23,915,000 (GRCm39) splice site probably null
IGL02522:Apba1 APN 19 23,889,809 (GRCm39) splice site probably benign
IGL02728:Apba1 APN 19 23,922,269 (GRCm39) missense possibly damaging 0.93
IGL02942:Apba1 APN 19 23,922,335 (GRCm39) missense possibly damaging 0.78
IGL03349:Apba1 APN 19 23,894,939 (GRCm39) missense probably benign 0.02
IGL03410:Apba1 APN 19 23,914,945 (GRCm39) missense possibly damaging 0.67
R0052:Apba1 UTSW 19 23,893,315 (GRCm39) missense possibly damaging 0.90
R0052:Apba1 UTSW 19 23,893,315 (GRCm39) missense possibly damaging 0.90
R0084:Apba1 UTSW 19 23,889,861 (GRCm39) missense possibly damaging 0.68
R0379:Apba1 UTSW 19 23,912,194 (GRCm39) missense probably damaging 1.00
R0423:Apba1 UTSW 19 23,922,362 (GRCm39) missense probably damaging 1.00
R1132:Apba1 UTSW 19 23,894,917 (GRCm39) missense possibly damaging 0.83
R1291:Apba1 UTSW 19 23,895,036 (GRCm39) missense probably damaging 0.97
R1681:Apba1 UTSW 19 23,913,925 (GRCm39) missense probably damaging 1.00
R1756:Apba1 UTSW 19 23,871,056 (GRCm39) missense possibly damaging 0.83
R1866:Apba1 UTSW 19 23,870,195 (GRCm39) missense probably benign 0.22
R2076:Apba1 UTSW 19 23,870,587 (GRCm39) nonsense probably null
R2217:Apba1 UTSW 19 23,871,326 (GRCm39) missense probably damaging 0.99
R3907:Apba1 UTSW 19 23,914,870 (GRCm39) missense probably damaging 0.96
R4095:Apba1 UTSW 19 23,921,388 (GRCm39) missense probably benign 0.00
R4529:Apba1 UTSW 19 23,913,899 (GRCm39) missense probably damaging 1.00
R4557:Apba1 UTSW 19 23,894,956 (GRCm39) missense probably damaging 1.00
R4972:Apba1 UTSW 19 23,889,900 (GRCm39) missense probably benign 0.24
R5521:Apba1 UTSW 19 23,870,957 (GRCm39) missense probably damaging 1.00
R6539:Apba1 UTSW 19 23,913,924 (GRCm39) missense probably damaging 1.00
R7032:Apba1 UTSW 19 23,889,825 (GRCm39) missense probably benign 0.20
R7035:Apba1 UTSW 19 23,894,931 (GRCm39) missense possibly damaging 0.88
R7495:Apba1 UTSW 19 23,913,963 (GRCm39) critical splice donor site probably null
R9149:Apba1 UTSW 19 23,870,782 (GRCm39) missense probably damaging 1.00
R9288:Apba1 UTSW 19 23,923,145 (GRCm39) makesense probably null
Z1176:Apba1 UTSW 19 23,921,479 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGGTCAGAGTTCAGGACACTAGG -3'
(R):5'- AAGGTTCCCAGCGAGGCTAGAATG -3'

Sequencing Primer
(F):5'- ggatcagacacagaatctgtcac -3'
(R):5'- CTAGAATGGCACTAGGGGC -3'
Posted On 2014-05-14