Incidental Mutation 'IGL02939:Fam53a'
ID365932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam53a
Ensembl Gene ENSMUSG00000037339
Gene Namefamily with sequence similarity 53, member A
Synonyms5430419M09Rik, 2410018C17Rik, DNTNP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL02939
Quality Score
Status
Chromosome5
Chromosomal Location33600347-33629635 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33607759 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 201 (D201G)
Ref Sequence ENSEMBL: ENSMUSP00000070770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045329] [ENSMUST00000065119] [ENSMUST00000065162] [ENSMUST00000137705] [ENSMUST00000150033] [ENSMUST00000153696] [ENSMUST00000155980]
Predicted Effect probably damaging
Transcript: ENSMUST00000045329
AA Change: D201G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045539
Gene: ENSMUSG00000037339
AA Change: D201G

DomainStartEndE-ValueType
Pfam:FAM53 1 299 2.2e-113 PFAM
low complexity region 336 356 N/A INTRINSIC
low complexity region 367 382 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000065119
AA Change: D201G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070770
Gene: ENSMUSG00000037339
AA Change: D201G

DomainStartEndE-ValueType
Pfam:FAM53 1 299 2.3e-112 PFAM
low complexity region 336 356 N/A INTRINSIC
low complexity region 367 382 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000065162
AA Change: D201G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069521
Gene: ENSMUSG00000037339
AA Change: D201G

DomainStartEndE-ValueType
Pfam:FAM53 1 299 3.1e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137705
SMART Domains Protein: ENSMUSP00000121667
Gene: ENSMUSG00000037339

DomainStartEndE-ValueType
Pfam:FAM53 1 54 4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150033
SMART Domains Protein: ENSMUSP00000117350
Gene: ENSMUSG00000037339

DomainStartEndE-ValueType
Pfam:FAM53 1 54 4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153696
SMART Domains Protein: ENSMUSP00000118139
Gene: ENSMUSG00000037339

DomainStartEndE-ValueType
Pfam:FAM53 1 59 3.7e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155980
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik T C 5: 9,461,478 Y947H probably damaging Het
Atp6ap1 A G X: 74,297,318 D47G probably benign Het
Atr T C 9: 95,865,261 F199L probably benign Het
Bivm C A 1: 44,142,960 H443N probably benign Het
Btnl2 A T 17: 34,361,069 H192L probably benign Het
Ccdc178 A T 18: 22,120,718 C155S probably benign Het
Celsr1 C A 15: 85,901,472 V2934L probably benign Het
Celsr3 T C 9: 108,849,453 S3294P probably damaging Het
Ddx10 T A 9: 53,204,279 E585V possibly damaging Het
Eps15l1 A T 8: 72,384,762 probably benign Het
Erlin1 G T 19: 44,063,052 T70K probably damaging Het
Ext2 A T 2: 93,704,619 probably null Het
Fam124a G A 14: 62,555,919 probably null Het
Fgf14 C T 14: 124,132,479 G136D possibly damaging Het
Gdi2 A T 13: 3,564,623 T323S probably benign Het
Gemin5 A T 11: 58,156,730 N339K probably damaging Het
Golga4 A C 9: 118,534,632 K233T probably damaging Het
Golga4 A G 9: 118,535,454 E286G probably benign Het
Gosr1 A G 11: 76,750,906 probably benign Het
Haus8 A G 8: 71,255,717 probably benign Het
Itgb3bp T C 4: 99,802,136 T49A probably null Het
Ldlrad4 A G 18: 68,254,514 D299G probably damaging Het
Lpo A G 11: 87,815,178 M273T possibly damaging Het
Map3k4 T A 17: 12,272,149 S132C probably damaging Het
Mycbp2 T G 14: 103,177,279 T2566P probably benign Het
Nalcn T C 14: 123,298,872 E1255G probably null Het
Nop56 A T 2: 130,278,197 K157N probably damaging Het
Olfr802 A T 10: 129,681,988 Y250* probably null Het
Olfr979 C T 9: 40,000,898 E110K probably benign Het
Pcdh15 A G 10: 74,504,816 probably benign Het
Pi4ka T C 16: 17,354,210 H557R probably damaging Het
Plekha4 C T 7: 45,532,363 Q64* probably null Het
Ppp2r3c G A 12: 55,298,407 probably benign Het
Rgmb C T 17: 15,807,493 M321I probably benign Het
Rnf31 T C 14: 55,595,674 S363P probably benign Het
Sap18b T A 8: 95,825,701 M113K probably benign Het
Scara3 T A 14: 65,931,656 M171L probably benign Het
Slc9a2 T G 1: 40,742,703 M364R probably damaging Het
Sorcs1 C T 19: 50,677,930 W180* probably null Het
Stat6 T A 10: 127,646,940 M10K probably benign Het
Sun1 T C 5: 139,235,488 probably benign Het
Tead2 T C 7: 45,220,434 probably benign Het
Tjp1 T G 7: 65,314,890 E844D probably damaging Het
Tmtc2 A G 10: 105,370,550 S295P probably damaging Het
Ttn G A 2: 76,782,412 R17108C probably damaging Het
Ubr1 T C 2: 120,881,183 probably null Het
Vmn2r108 T A 17: 20,471,283 H326L probably benign Het
Xdh A G 17: 73,943,845 probably null Het
Zfp385b A G 2: 77,412,059 S439P probably benign Het
Zfp597 G A 16: 3,865,941 S317L probably benign Het
Zfp638 A G 6: 83,969,232 D1081G probably damaging Het
Zfp93 C T 7: 24,275,084 H165Y possibly damaging Het
Other mutations in Fam53a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Fam53a APN 5 33600827 missense probably benign 0.09
IGL02326:Fam53a APN 5 33600594 missense probably damaging 1.00
IGL02988:Fam53a UTSW 5 33607475 missense probably damaging 1.00
R0054:Fam53a UTSW 5 33607732 missense probably damaging 0.99
R0884:Fam53a UTSW 5 33600816 missense probably benign 0.00
R4601:Fam53a UTSW 5 33600663 missense probably benign 0.00
R4808:Fam53a UTSW 5 33607679 missense probably damaging 1.00
R5311:Fam53a UTSW 5 33607736 missense probably damaging 1.00
R6334:Fam53a UTSW 5 33600875 missense probably damaging 1.00
R6525:Fam53a UTSW 5 33607918 missense probably damaging 0.99
R6645:Fam53a UTSW 5 33600784 missense probably benign
R6681:Fam53a UTSW 5 33607840 missense probably damaging 1.00
R6814:Fam53a UTSW 5 33610485 missense probably benign 0.35
R7542:Fam53a UTSW 5 33607471 missense probably damaging 1.00
Posted On2015-12-18