Incidental Mutation 'R1900:AU040320'
ID 214172
Institutional Source Beutler Lab
Gene Symbol AU040320
Ensembl Gene ENSMUSG00000028830
Gene Name expressed sequence AU040320
Synonyms
MMRRC Submission 039920-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1900 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 126647331-126763487 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to C at 126747073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047431] [ENSMUST00000102607] [ENSMUST00000102608]
AlphaFold Q8K135
Predicted Effect probably benign
Transcript: ENSMUST00000047431
AA Change: Y1025S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: Y1025S

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 null
Transcript: ENSMUST00000102607
SMART Domains Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830

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 null
Transcript: ENSMUST00000102608
SMART Domains Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830

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: ENSMUST00000125225
Meta Mutation Damage Score 0.0845 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 96% (100/104)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6330409D20Rik T C 2: 32,630,559 (GRCm39) probably benign Het
Ago4 T C 4: 126,410,729 (GRCm39) I221V probably benign Het
Ankfy1 C T 11: 72,645,233 (GRCm39) Q771* probably null Het
Ankrd50 T C 3: 38,509,536 (GRCm39) T944A probably damaging Het
Armh4 T C 14: 50,008,040 (GRCm39) T478A probably damaging Het
Axdnd1 A G 1: 156,208,344 (GRCm39) probably null Het
Cdadc1 A T 14: 59,823,981 (GRCm39) D170E probably damaging Het
Cep164 C A 9: 45,721,123 (GRCm39) R93L probably damaging Het
Cep250 T C 2: 155,827,294 (GRCm39) probably null Het
Cfdp1 G A 8: 112,495,361 (GRCm39) R286* probably null Het
Chrdl2 A G 7: 99,682,871 (GRCm39) I377V possibly damaging Het
Cntrob A T 11: 69,198,880 (GRCm39) S623T probably benign Het
Col6a5 C T 9: 105,808,412 (GRCm39) G879S unknown Het
Cyp2c38 T A 19: 39,426,756 (GRCm39) I182F probably benign Het
Dennd4a T C 9: 64,804,618 (GRCm39) V1319A probably damaging Het
Dysf T G 6: 84,016,549 (GRCm39) V70G probably damaging Het
Edn3 A G 2: 174,603,398 (GRCm39) T49A possibly damaging Het
Elac1 C G 18: 73,872,316 (GRCm39) L226F probably damaging Het
Eps8l3 A G 3: 107,798,268 (GRCm39) D445G probably benign Het
Fgf11 G T 11: 69,692,279 (GRCm39) T58K probably benign Het
Fstl5 T A 3: 76,615,467 (GRCm39) W843R probably damaging Het
Fyb2 A G 4: 104,802,652 (GRCm39) R185G probably benign Het
Gal3st2c G A 1: 93,936,766 (GRCm39) R237H probably damaging Het
Galnt15 G T 14: 31,771,822 (GRCm39) R289L probably damaging Het
Garin4 T A 1: 190,896,631 (GRCm39) K4M possibly damaging Het
Gdf5 T A 2: 155,784,001 (GRCm39) D317V probably damaging Het
Gm7808 A G 9: 19,839,410 (GRCm39) probably benign Het
Hcn3 T C 3: 89,055,570 (GRCm39) E559G probably benign Het
Hdlbp A T 1: 93,349,959 (GRCm39) probably benign Het
Hhip T C 8: 80,701,675 (GRCm39) T620A probably benign Het
Hs3st3a1 T C 11: 64,411,268 (GRCm39) S269P probably damaging Het
Il17ra A T 6: 120,454,355 (GRCm39) probably null Het
Kif2a T C 13: 107,113,503 (GRCm39) N417S possibly damaging Het
Klhl41 T A 2: 69,504,963 (GRCm39) probably benign Het
L3mbtl4 G T 17: 68,766,800 (GRCm39) C169F probably damaging Het
Lap3 T C 5: 45,669,252 (GRCm39) F467S probably damaging Het
Lpar6 A T 14: 73,476,579 (GRCm39) Y180F probably benign Het
Lrig3 T C 10: 125,838,262 (GRCm39) probably benign Het
Ltbp2 A T 12: 84,877,432 (GRCm39) S378T probably damaging Het
Ltf T C 9: 110,851,913 (GRCm39) F117L possibly damaging Het
Med16 T C 10: 79,734,765 (GRCm39) E533G probably damaging Het
Meltf T C 16: 31,700,787 (GRCm39) probably null Het
Mphosph10 C T 7: 64,030,776 (GRCm39) E488K possibly damaging Het
Mroh1 A G 15: 76,317,585 (GRCm39) T812A probably benign Het
Mto1 T C 9: 78,368,799 (GRCm39) probably benign Het
Ndst1 A T 18: 60,845,793 (GRCm39) probably null Het
Ndst4 T A 3: 125,491,544 (GRCm39) probably null Het
Nhlh1 A T 1: 171,881,608 (GRCm39) I86N probably damaging Het
Nme9 A C 9: 99,341,827 (GRCm39) D59A probably damaging Het
Nox4 A T 7: 87,010,004 (GRCm39) R402* probably null Het
Npr1 T C 3: 90,369,495 (GRCm39) D410G probably damaging Het
Nrip1 T A 16: 76,088,927 (GRCm39) T877S probably benign Het
Nsd2 A G 5: 34,003,513 (GRCm39) N221S probably benign Het
Ophn1 A T X: 97,769,665 (GRCm39) Y181* probably null Het
Or13a28 A T 7: 140,218,505 (GRCm39) D297V probably damaging Het
Or1e17 C A 11: 73,831,486 (GRCm39) P138Q possibly damaging Het
Or4c123 T C 2: 89,127,014 (GRCm39) N200S probably damaging Het
Or51ac3 A T 7: 103,213,814 (GRCm39) L224* probably null Het
Or51f5 A T 7: 102,424,538 (GRCm39) H269L probably benign Het
Or5b109 T A 19: 13,212,277 (GRCm39) I221K possibly damaging Het
Or8c10 A T 9: 38,279,360 (GRCm39) I173L probably benign Het
Parp1 A G 1: 180,424,904 (GRCm39) K819R probably damaging Het
Parp9 T C 16: 35,792,591 (GRCm39) S829P probably benign Het
Pde6c T A 19: 38,150,388 (GRCm39) F511Y probably damaging Het
Per3 G T 4: 151,125,883 (GRCm39) H145Q probably damaging Het
Pglyrp1 C T 7: 18,624,151 (GRCm39) R145W probably damaging Het
Piezo1 T C 8: 123,209,384 (GRCm39) probably benign Het
Plb1 T C 5: 32,444,191 (GRCm39) I312T probably benign Het
Plin3 T A 17: 56,586,824 (GRCm39) T408S possibly damaging Het
Polr2a A T 11: 69,634,772 (GRCm39) I636N probably damaging Het
Pramel51 A C 12: 88,144,030 (GRCm39) L261R probably benign Het
Prb1b A T 6: 132,291,661 (GRCm39) L11Q unknown Het
Prex2 G T 1: 11,232,590 (GRCm39) E886* probably null Het
Proca1 A T 11: 78,095,847 (GRCm39) I73F probably damaging Het
Ptpn6 A G 6: 124,705,896 (GRCm39) S83P probably benign Het
Rtp1 G T 16: 23,248,049 (GRCm39) V41L probably benign Het
Scn4a A G 11: 106,218,359 (GRCm39) I1035T probably damaging Het
Sell A T 1: 163,892,907 (GRCm39) Y41F probably damaging Het
Serping1 C T 2: 84,601,793 (GRCm39) V226M probably damaging Het
Sf3b1 A T 1: 55,037,347 (GRCm39) D856E possibly damaging Het
Sfmbt1 T A 14: 30,524,524 (GRCm39) Y503N probably damaging Het
Slc16a1 T A 3: 104,560,880 (GRCm39) V395D probably damaging Het
Slc22a7 A T 17: 46,749,157 (GRCm39) D53E probably benign Het
Slc35b3 A G 13: 39,144,587 (GRCm39) probably null Het
Slc6a1 T C 6: 114,288,815 (GRCm39) M274T possibly damaging Het
Slco1a5 A G 6: 142,187,789 (GRCm39) S517P probably benign Het
Smo A G 6: 29,736,055 (GRCm39) R16G unknown Het
Srebf1 A G 11: 60,094,312 (GRCm39) L601P probably damaging Het
Sspo A G 6: 48,436,284 (GRCm39) I1086M probably benign Het
Tas2r106 A T 6: 131,655,373 (GRCm39) N159K probably damaging Het
Thsd1 G A 8: 22,742,334 (GRCm39) probably benign Het
Tmeff1 T C 4: 48,658,938 (GRCm39) probably benign Het
Tmem140 G A 6: 34,849,838 (GRCm39) C118Y possibly damaging Het
Tmem168 A G 6: 13,583,070 (GRCm39) C220R probably benign Het
Tox2 A T 2: 163,118,087 (GRCm39) N129Y probably damaging Het
Trappc12 C T 12: 28,796,984 (GRCm39) E183K probably damaging Het
Unc50 A G 1: 37,477,880 (GRCm39) Y254C probably damaging Het
Unk T G 11: 115,949,907 (GRCm39) D691E probably benign Het
Uox T A 3: 146,316,134 (GRCm39) V23D probably damaging Het
Vps13d A G 4: 144,853,176 (GRCm39) C2313R probably benign Het
Zfp804b T A 5: 6,819,283 (GRCm39) H1260L probably damaging Het
Zfyve26 A G 12: 79,311,125 (GRCm39) L147P probably damaging Het
Zmynd10 A T 9: 107,427,236 (GRCm39) Q288L probably benign Het
Zzef1 T A 11: 72,739,540 (GRCm39) D662E 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
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
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
Predicted Primers PCR Primer
(F):5'- ATGAGGATGGGCTGTGACTC -3'
(R):5'- GATTCAAGTACCAGCAGTTCTG -3'

Sequencing Primer
(F):5'- TGACTCGGGCCTGGCAAG -3'
(R):5'- TGGAGTGGCCAGCACATG -3'
Posted On 2014-07-14