Incidental Mutation 'IGL00978:AU040320'
ID 27344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AU040320
Ensembl Gene ENSMUSG00000028830
Gene Name expressed sequence AU040320
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00978
Quality Score
Status
Chromosome 4
Chromosomal Location 126647331-126763487 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126722632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 383 (D383E)
Ref Sequence ENSEMBL: ENSMUSP00000037802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047431] [ENSMUST00000102607] [ENSMUST00000102608]
AlphaFold Q8K135
Predicted Effect probably benign
Transcript: ENSMUST00000047431
AA Change: D383E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: D383E

DomainStartEndE-ValueType
low complexity region 83 97 N/A INTRINSIC
FN3 113 391 8.45e1 SMART
IG_like 305 398 3.57e1 SMART
PKD 309 400 3.1e-1 SMART
FN3 399 485 2.7e1 SMART
PKD 408 497 1.87e-4 SMART
FN3 502 676 4.47e1 SMART
PKD 503 593 3.22e-8 SMART
IG_like 508 591 1.17e1 SMART
IG_like 597 782 1.66e2 SMART
PKD 599 687 8.98e-7 SMART
PKD 693 784 1.05e-7 SMART
FN3 694 772 3.71e1 SMART
transmembrane domain 927 949 N/A INTRINSIC
low complexity region 995 1010 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102607
AA Change: D383E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: D383E

DomainStartEndE-ValueType
low complexity region 83 97 N/A INTRINSIC
FN3 113 391 8.45e1 SMART
IG_like 305 398 3.57e1 SMART
PKD 309 400 3.1e-1 SMART
FN3 399 485 2.7e1 SMART
PKD 408 497 1.87e-4 SMART
FN3 502 676 4.47e1 SMART
PKD 503 593 3.22e-8 SMART
IG_like 508 591 1.17e1 SMART
IG_like 597 782 1.66e2 SMART
PKD 599 687 8.98e-7 SMART
PKD 693 784 1.05e-7 SMART
FN3 694 772 3.71e1 SMART
transmembrane domain 927 949 N/A INTRINSIC
low complexity region 995 1010 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102608
AA Change: D383E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: D383E

DomainStartEndE-ValueType
low complexity region 83 97 N/A INTRINSIC
FN3 113 391 8.45e1 SMART
IG_like 305 398 3.57e1 SMART
PKD 309 400 3.1e-1 SMART
FN3 399 485 2.7e1 SMART
PKD 408 497 1.87e-4 SMART
FN3 502 676 4.47e1 SMART
PKD 503 593 3.22e-8 SMART
IG_like 508 591 1.17e1 SMART
IG_like 597 782 1.66e2 SMART
PKD 599 687 8.98e-7 SMART
PKD 693 784 1.05e-7 SMART
FN3 694 772 3.71e1 SMART
transmembrane domain 927 949 N/A INTRINSIC
low complexity region 995 1010 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141918
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a candidate gene for dyslexia susceptibility.[provided by RefSeq, Apr 2009]
PHENOTYPE: Null mice display decreased susceptibility to adenoviral infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009L18Rik T C 11: 120,241,773 (GRCm39) probably benign Het
Alpk2 A T 18: 65,424,605 (GRCm39) probably benign Het
Angptl8 T C 9: 21,748,349 (GRCm39) probably benign Het
Cep97 C T 16: 55,745,323 (GRCm39) probably benign Het
Clcn4 A T 7: 7,290,672 (GRCm39) L649H probably damaging Het
Col5a2 T C 1: 45,415,899 (GRCm39) N1416S probably benign Het
Erbb2 C T 11: 98,326,456 (GRCm39) P1027S probably damaging Het
Eya1 A G 1: 14,340,925 (GRCm39) probably benign Het
Gfm2 T C 13: 97,299,485 (GRCm39) I402T probably benign Het
Gmeb2 A T 2: 180,900,836 (GRCm39) V187E probably benign Het
Hectd1 T C 12: 51,838,173 (GRCm39) H662R possibly damaging Het
Ifne T C 4: 88,798,268 (GRCm39) Q50R probably benign Het
Kidins220 A G 12: 25,107,473 (GRCm39) D1642G probably damaging Het
Klhl32 T A 4: 24,682,245 (GRCm39) D146V probably damaging Het
Krt36 T C 11: 99,993,774 (GRCm39) I355V probably damaging Het
Lrrcc1 T A 3: 14,601,188 (GRCm39) S73R possibly damaging Het
Ltbp3 A T 19: 5,804,047 (GRCm39) H853L probably benign Het
Map3k5 G A 10: 20,017,313 (GRCm39) R1369Q probably damaging Het
Mcm8 A G 2: 132,663,326 (GRCm39) N148S probably benign Het
Mylk3 A T 8: 86,082,155 (GRCm39) L211* probably null Het
Nras T C 3: 102,966,232 (GRCm39) probably benign Het
Or2n1c A T 17: 38,519,873 (GRCm39) I246F probably damaging Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Os9 A T 10: 126,956,378 (GRCm39) Y66N probably damaging Het
Pitpnm1 A G 19: 4,151,228 (GRCm39) D15G possibly damaging Het
Reg3a A T 6: 78,359,284 (GRCm39) R95* probably null Het
Rnf17 C T 14: 56,749,728 (GRCm39) P1425S probably damaging Het
Smad2 T C 18: 76,432,846 (GRCm39) probably benign Het
Ttll5 C T 12: 85,980,256 (GRCm39) Q76* probably null Het
Uri1 A T 7: 37,696,156 (GRCm39) probably benign Het
Vmn2r102 G T 17: 19,899,185 (GRCm39) probably null Het
Vmn2r70 T G 7: 85,213,007 (GRCm39) M467L probably benign Het
Zfp318 T A 17: 46,724,652 (GRCm39) D2218E possibly damaging Het
Zfp692 T C 11: 58,204,855 (GRCm39) I405T possibly damaging Het
Zfp692 A G 11: 58,200,824 (GRCm39) H235R possibly damaging Het
Other mutations in AU040320
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:AU040320 APN 4 126,686,027 (GRCm39) missense probably benign
IGL00835:AU040320 APN 4 126,650,864 (GRCm39) splice site probably null
IGL00964:AU040320 APN 4 126,748,199 (GRCm39) nonsense probably null
IGL01396:AU040320 APN 4 126,763,171 (GRCm39) intron probably benign
IGL02129:AU040320 APN 4 126,717,485 (GRCm39) missense probably damaging 1.00
IGL02148:AU040320 APN 4 126,733,469 (GRCm39) missense possibly damaging 0.64
IGL02179:AU040320 APN 4 126,729,405 (GRCm39) missense probably benign 0.43
IGL02696:AU040320 APN 4 126,736,380 (GRCm39) missense probably damaging 1.00
PIT4677001:AU040320 UTSW 4 126,686,030 (GRCm39) missense probably benign 0.00
R0063:AU040320 UTSW 4 126,733,465 (GRCm39) missense probably damaging 1.00
R0063:AU040320 UTSW 4 126,733,465 (GRCm39) missense probably damaging 1.00
R0356:AU040320 UTSW 4 126,731,155 (GRCm39) missense probably damaging 1.00
R0865:AU040320 UTSW 4 126,742,677 (GRCm39) missense possibly damaging 0.94
R1165:AU040320 UTSW 4 126,717,433 (GRCm39) splice site probably benign
R1216:AU040320 UTSW 4 126,710,276 (GRCm39) splice site probably benign
R1464:AU040320 UTSW 4 126,685,824 (GRCm39) missense possibly damaging 0.92
R1464:AU040320 UTSW 4 126,685,824 (GRCm39) missense possibly damaging 0.92
R1751:AU040320 UTSW 4 126,734,517 (GRCm39) missense probably damaging 1.00
R1767:AU040320 UTSW 4 126,734,517 (GRCm39) missense probably damaging 1.00
R1900:AU040320 UTSW 4 126,747,073 (GRCm39) splice site probably null
R2173:AU040320 UTSW 4 126,686,069 (GRCm39) missense probably benign 0.02
R2414:AU040320 UTSW 4 126,762,484 (GRCm39) critical splice acceptor site probably null
R4061:AU040320 UTSW 4 126,729,488 (GRCm39) missense probably damaging 1.00
R4354:AU040320 UTSW 4 126,748,192 (GRCm39) unclassified probably benign
R4751:AU040320 UTSW 4 126,748,259 (GRCm39) splice site probably null
R4790:AU040320 UTSW 4 126,741,008 (GRCm39) missense possibly damaging 0.62
R4799:AU040320 UTSW 4 126,733,462 (GRCm39) missense probably benign 0.01
R4825:AU040320 UTSW 4 126,685,586 (GRCm39) missense probably damaging 1.00
R4908:AU040320 UTSW 4 126,747,081 (GRCm39) missense probably damaging 1.00
R4914:AU040320 UTSW 4 126,729,469 (GRCm39) nonsense probably null
R5085:AU040320 UTSW 4 126,722,664 (GRCm39) missense possibly damaging 0.83
R5320:AU040320 UTSW 4 126,717,509 (GRCm39) missense possibly damaging 0.52
R5410:AU040320 UTSW 4 126,717,509 (GRCm39) missense possibly damaging 0.52
R5543:AU040320 UTSW 4 126,735,017 (GRCm39) missense probably damaging 1.00
R5684:AU040320 UTSW 4 126,685,939 (GRCm39) missense probably benign 0.06
R5729:AU040320 UTSW 4 126,724,208 (GRCm39) missense probably damaging 1.00
R5918:AU040320 UTSW 4 126,708,064 (GRCm39) missense probably benign 0.32
R6123:AU040320 UTSW 4 126,763,179 (GRCm39) intron probably benign
R6456:AU040320 UTSW 4 126,736,284 (GRCm39) missense probably benign 0.03
R6523:AU040320 UTSW 4 126,762,553 (GRCm39) critical splice donor site probably null
R6591:AU040320 UTSW 4 126,730,463 (GRCm39) missense possibly damaging 0.81
R6603:AU040320 UTSW 4 126,686,046 (GRCm39) missense probably benign 0.02
R6664:AU040320 UTSW 4 126,729,443 (GRCm39) missense probably damaging 1.00
R6691:AU040320 UTSW 4 126,730,463 (GRCm39) missense possibly damaging 0.81
R6864:AU040320 UTSW 4 126,741,612 (GRCm39) missense probably damaging 0.98
R6891:AU040320 UTSW 4 126,740,231 (GRCm39) missense possibly damaging 0.93
R6895:AU040320 UTSW 4 126,685,723 (GRCm39) missense probably damaging 1.00
R7064:AU040320 UTSW 4 126,685,865 (GRCm39) missense probably benign 0.01
R7351:AU040320 UTSW 4 126,710,237 (GRCm39) missense probably damaging 0.98
R7453:AU040320 UTSW 4 126,729,493 (GRCm39) critical splice donor site probably null
R7467:AU040320 UTSW 4 126,708,103 (GRCm39) missense probably benign 0.06
R7492:AU040320 UTSW 4 126,741,648 (GRCm39) missense possibly damaging 0.56
R7513:AU040320 UTSW 4 126,686,057 (GRCm39) missense probably benign 0.01
R7702:AU040320 UTSW 4 126,708,166 (GRCm39) missense probably benign 0.23
R7733:AU040320 UTSW 4 126,729,322 (GRCm39) missense possibly damaging 0.88
R8079:AU040320 UTSW 4 126,725,953 (GRCm39) missense possibly damaging 0.61
R8430:AU040320 UTSW 4 126,742,693 (GRCm39) missense possibly damaging 0.93
R8984:AU040320 UTSW 4 126,734,936 (GRCm39) missense possibly damaging 0.58
R9328:AU040320 UTSW 4 126,729,332 (GRCm39) missense possibly damaging 0.58
R9501:AU040320 UTSW 4 126,735,032 (GRCm39) missense probably benign 0.11
R9721:AU040320 UTSW 4 126,733,441 (GRCm39) missense probably damaging 1.00
Z1177:AU040320 UTSW 4 126,736,426 (GRCm39) missense probably benign 0.05
Posted On 2013-04-17