Incidental Mutation 'IGL01734:Aknad1'
ID105628
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aknad1
Ensembl Gene ENSMUSG00000049565
Gene NameAKNA domain containing 1
Synonyms4921525H12Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.038) question?
Stock #IGL01734
Quality Score
Status
Chromosome3
Chromosomal Location108739658-108782309 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108751901 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 77 (M77T)
Ref Sequence ENSEMBL: ENSMUSP00000121755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123556] [ENSMUST00000133931]
Predicted Effect probably benign
Transcript: ENSMUST00000123556
AA Change: M77T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000125068
Gene: ENSMUSG00000049565
AA Change: M77T

DomainStartEndE-ValueType
Pfam:AKNA 322 414 3.4e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133931
AA Change: M77T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000121755
Gene: ENSMUSG00000049565
AA Change: M77T

DomainStartEndE-ValueType
Pfam:AKNA 322 415 2.5e-35 PFAM
low complexity region 557 572 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150998
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 encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932442E05Rik T A 10: 118,861,466 W210R possibly damaging Het
Aox2 A T 1: 58,354,310 I1210F possibly damaging Het
Brd8 A T 18: 34,614,805 probably benign Het
Cdh23 T C 10: 60,303,513 D3307G probably benign Het
Chsy1 T C 7: 66,171,310 I431T probably damaging Het
Cobl A G 11: 12,254,980 probably benign Het
Col28a1 T C 6: 8,158,134 D308G probably damaging Het
Csmd3 A G 15: 48,185,304 Y568H probably damaging Het
Dmrt3 T C 19: 25,622,583 I264T probably damaging Het
Dusp22 G T 13: 30,696,252 C52F probably damaging Het
Fbxw22 A C 9: 109,383,925 M318R probably damaging Het
Ffar4 C T 19: 38,113,847 T310M probably damaging Het
Fn1 A G 1: 71,619,485 V1138A probably damaging Het
Glt6d1 T A 2: 25,794,493 Y167F probably benign Het
Hydin T A 8: 110,490,789 Y1436* probably null Het
Il12a G A 3: 68,691,555 C2Y possibly damaging Het
Inpp5a T C 7: 139,454,090 Y38H possibly damaging Het
Jmy A C 13: 93,459,651 L490R probably damaging Het
Kif26a T A 12: 112,176,828 L1172H probably benign Het
Kmo A T 1: 175,655,102 M331L probably benign Het
Lonp1 G A 17: 56,616,026 T627M probably damaging Het
Lrrc41 T C 4: 116,093,134 probably null Het
Mast4 A T 13: 102,737,615 S1556R probably damaging Het
Mmel1 A G 4: 154,891,951 N490S probably benign Het
Mpped2 A G 2: 106,783,813 D164G probably damaging Het
Nap1l1 A G 10: 111,492,899 T230A probably benign Het
Nrap C A 19: 56,350,309 A913S probably damaging Het
Nudt16 G T 9: 105,131,508 Q65K probably benign Het
Olfr1039 T A 2: 86,131,668 probably benign Het
Olfr199 T G 16: 59,216,429 L61F probably benign Het
Olfr201 T A 16: 59,268,850 K272N probably benign Het
Olfr382 C A 11: 73,516,636 A188S probably benign Het
Olfr813 T A 10: 129,856,802 C95S probably benign Het
Parp14 A G 16: 35,858,600 F333L probably benign Het
Pi4ka G T 16: 17,297,260 Q1422K probably benign Het
Polr3c T C 3: 96,713,520 E494G probably damaging Het
Prss42 C A 9: 110,798,343 P49Q probably benign Het
Ptpra C T 2: 130,544,077 T568I probably damaging Het
Ring1 T C 17: 34,023,320 D71G probably damaging Het
Siae T A 9: 37,631,486 S193T probably damaging Het
Slf2 T C 19: 44,973,267 probably null Het
Spinkl T A 18: 44,174,572 K7N possibly damaging Het
Tbk1 G A 10: 121,571,983 R82* probably null Het
Tcf12 T C 9: 71,922,648 probably null Het
Tcl1b5 G A 12: 105,178,955 M59I probably benign Het
Thumpd3 C A 6: 113,066,845 T407K probably damaging Het
Timm29 T C 9: 21,593,735 V233A probably damaging Het
Tns3 A G 11: 8,519,192 probably benign Het
Ubash3b T C 9: 41,026,247 probably benign Het
Ugdh G T 5: 65,422,688 T253K probably benign Het
Zfp143 T A 7: 110,072,209 probably benign Het
Zfp738 A G 13: 67,683,444 probably benign Het
Other mutations in Aknad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00697:Aknad1 APN 3 108775008 missense probably damaging 0.96
IGL01877:Aknad1 APN 3 108775090 missense probably damaging 0.99
IGL01964:Aknad1 APN 3 108778277 missense probably benign
IGL03091:Aknad1 APN 3 108751903 missense possibly damaging 0.76
IGL03172:Aknad1 APN 3 108781203 missense possibly damaging 0.53
R0023:Aknad1 UTSW 3 108781185 missense probably benign 0.00
R0023:Aknad1 UTSW 3 108781185 missense probably benign 0.00
R0238:Aknad1 UTSW 3 108781239 missense probably benign
R0238:Aknad1 UTSW 3 108781239 missense probably benign
R0294:Aknad1 UTSW 3 108775192 missense probably damaging 0.99
R0931:Aknad1 UTSW 3 108752023 missense probably damaging 1.00
R1147:Aknad1 UTSW 3 108752541 missense possibly damaging 0.89
R1147:Aknad1 UTSW 3 108752541 missense possibly damaging 0.89
R1179:Aknad1 UTSW 3 108752467 missense possibly damaging 0.78
R1579:Aknad1 UTSW 3 108752136 nonsense probably null
R1746:Aknad1 UTSW 3 108751783 missense possibly damaging 0.48
R2205:Aknad1 UTSW 3 108757293 missense probably damaging 1.00
R2316:Aknad1 UTSW 3 108781156 missense probably damaging 0.98
R2519:Aknad1 UTSW 3 108756468 missense probably damaging 0.97
R3087:Aknad1 UTSW 3 108756863 nonsense probably null
R4007:Aknad1 UTSW 3 108775282 missense probably benign 0.33
R4716:Aknad1 UTSW 3 108775101 critical splice donor site probably null
R4762:Aknad1 UTSW 3 108775231 missense possibly damaging 0.86
R4852:Aknad1 UTSW 3 108751740 missense probably damaging 0.99
R4910:Aknad1 UTSW 3 108781252 critical splice donor site probably null
R5191:Aknad1 UTSW 3 108751990 missense probably benign 0.04
R5191:Aknad1 UTSW 3 108752551 missense probably benign 0.11
R5918:Aknad1 UTSW 3 108752387 missense probably benign 0.00
R6246:Aknad1 UTSW 3 108751832 missense probably damaging 1.00
R6730:Aknad1 UTSW 3 108752339 missense possibly damaging 0.95
X0023:Aknad1 UTSW 3 108752177 missense possibly damaging 0.47
Posted On2014-01-21