Incidental Mutation 'IGL02696:AU040320'
ID 303935
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 # IGL02696
Quality Score
Status
Chromosome 4
Chromosomal Location 126647331-126763487 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126736380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 821 (L821P)
Ref Sequence ENSEMBL: ENSMUSP00000037802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047431] [ENSMUST00000102607] [ENSMUST00000102608]
AlphaFold Q8K135
Predicted Effect probably damaging
Transcript: ENSMUST00000047431
AA Change: L821P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: L821P

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 damaging
Transcript: ENSMUST00000102607
AA Change: L821P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: L821P

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 damaging
Transcript: ENSMUST00000102608
AA Change: L821P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: L821P

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: ENSMUST00000155341
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,704,628 (GRCm39) T43A probably benign Het
Adgrd1 T C 5: 129,217,918 (GRCm39) probably benign Het
Asxl1 T A 2: 153,242,115 (GRCm39) Y888* probably null Het
Atp8b5 T C 4: 43,369,634 (GRCm39) V924A possibly damaging Het
Capn11 T C 17: 45,943,635 (GRCm39) N596S probably damaging Het
Cnot1 C A 8: 96,471,645 (GRCm39) V1219F probably benign Het
Cope T C 8: 70,763,143 (GRCm39) probably null Het
Crim1 A G 17: 78,587,402 (GRCm39) E169G probably damaging Het
Csmd3 A T 15: 47,533,065 (GRCm39) F2395I probably benign Het
Ctso A C 3: 81,858,691 (GRCm39) D220A possibly damaging Het
Cttnbp2 G A 6: 18,434,128 (GRCm39) P577S probably benign Het
D930048N14Rik T A 11: 51,544,821 (GRCm39) probably benign Het
Dck T A 5: 88,920,666 (GRCm39) S129T probably damaging Het
Dlc1 A G 8: 37,041,326 (GRCm39) V1301A possibly damaging Het
Dusp16 G A 6: 134,695,398 (GRCm39) R478C probably damaging Het
Ermap C T 4: 119,044,904 (GRCm39) R49K possibly damaging Het
Flnc A G 6: 29,446,697 (GRCm39) K969R probably damaging Het
Gjb2 A T 14: 57,337,769 (GRCm39) F146L probably damaging Het
Hdc A T 2: 126,436,220 (GRCm39) D550E probably damaging Het
Hs6st3 A T 14: 120,106,731 (GRCm39) I380F probably damaging Het
Htr1d T C 4: 136,170,722 (GRCm39) V317A probably benign Het
Kalrn A T 16: 34,040,484 (GRCm39) M963K probably damaging Het
Kl T A 5: 150,904,450 (GRCm39) S401T probably benign Het
Lair1 A G 7: 4,013,848 (GRCm39) probably benign Het
Lrp5 C T 19: 3,652,253 (GRCm39) V1206I probably benign Het
Matn4 A G 2: 164,238,758 (GRCm39) F343S probably benign Het
Mrgpra4 G T 7: 47,631,251 (GRCm39) R117S possibly damaging Het
Myh14 T C 7: 44,314,530 (GRCm39) Y131C probably damaging Het
Nap1l4 A T 7: 143,077,898 (GRCm39) N345K possibly damaging Het
Oas1c T C 5: 120,943,528 (GRCm39) R204G probably benign Het
Or52e4 A G 7: 104,705,569 (GRCm39) T39A probably benign Het
Or8k25 T A 2: 86,243,959 (GRCm39) T146S probably benign Het
Pakap T A 4: 57,854,663 (GRCm39) D58E probably damaging Het
Pin1 G A 9: 20,574,531 (GRCm39) G150E probably benign Het
R3hdm2 T C 10: 127,300,888 (GRCm39) probably null Het
Rai1 C A 11: 60,084,782 (GRCm39) H1843Q probably benign Het
Siae G T 9: 37,542,680 (GRCm39) A194S probably damaging Het
Slc6a12 G T 6: 121,340,211 (GRCm39) V485L probably benign Het
Stil T G 4: 114,898,692 (GRCm39) S1107R probably damaging Het
Syt16 T C 12: 74,176,185 (GRCm39) V18A possibly damaging Het
Trpm8 A G 1: 88,275,773 (GRCm39) D457G probably damaging Het
Tshr A T 12: 91,460,103 (GRCm39) T66S possibly damaging Het
Ttn T A 2: 76,537,639 (GRCm39) Q34763L probably benign Het
Ubr2 T A 17: 47,274,691 (GRCm39) M830L probably benign Het
Ulk1 A G 5: 110,940,918 (GRCm39) F337S probably 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
IGL00978:AU040320 APN 4 126,722,632 (GRCm39) missense probably benign 0.00
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
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 2015-04-16