Incidental Mutation 'IGL02206:Fam13a'
ID284493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam13a
Ensembl Gene ENSMUSG00000037709
Gene Namefamily with sequence similarity 13, member A
SynonymsD430015B01Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02206
Quality Score
Status
Chromosome6
Chromosomal Location58932090-59024549 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 58987219 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 76 (I76K)
Ref Sequence ENSEMBL: ENSMUSP00000087304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089860] [ENSMUST00000173193]
Predicted Effect probably benign
Transcript: ENSMUST00000089860
AA Change: I76K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000087304
Gene: ENSMUSG00000037709
AA Change: I76K

DomainStartEndE-ValueType
Blast:RhoGAP 19 128 6e-27 BLAST
low complexity region 136 147 N/A INTRINSIC
low complexity region 159 171 N/A INTRINSIC
low complexity region 173 185 N/A INTRINSIC
coiled coil region 336 363 N/A INTRINSIC
low complexity region 419 433 N/A INTRINSIC
coiled coil region 620 645 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173193
AA Change: I76K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134135
Gene: ENSMUSG00000037709
AA Change: I76K

DomainStartEndE-ValueType
Blast:RhoGAP 21 128 6e-27 BLAST
low complexity region 136 147 N/A INTRINSIC
low complexity region 159 171 N/A INTRINSIC
low complexity region 173 185 N/A INTRINSIC
coiled coil region 336 363 N/A INTRINSIC
low complexity region 419 433 N/A INTRINSIC
coiled coil region 592 617 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173712
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173978
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,260,747 K824* probably null Het
Acot12 A G 13: 91,759,987 D96G probably damaging Het
Acvr2b C T 9: 119,427,998 Q98* probably null Het
Aldh8a1 T C 10: 21,395,575 V400A probably benign Het
Aox1 C A 1: 58,065,340 H559N probably benign Het
Arhgef18 T A 8: 3,445,034 I431N probably benign Het
Atad5 A G 11: 80,094,183 D32G probably damaging Het
Cmtm8 T C 9: 114,843,899 H10R probably benign Het
Cnn1 T G 9: 22,104,378 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Defb23 C A 2: 152,464,535 E20* probably null Het
Dennd2a A T 6: 39,523,449 S61T probably damaging Het
Fgd5 A G 6: 91,987,258 probably benign Het
Flt4 A T 11: 49,630,390 R409W probably damaging Het
Gm11397 A G 13: 33,404,199 T256A probably damaging Het
Gramd1b T C 9: 40,300,032 T652A probably benign Het
Grik1 C T 16: 87,935,920 G703D probably damaging Het
Impg2 A G 16: 56,259,597 E479G possibly damaging Het
Itpr1 A G 6: 108,549,820 N2743S probably damaging Het
Klc1 A G 12: 111,778,116 probably benign Het
Mb21d1 T C 9: 78,443,080 probably null Het
Ndufa9 G A 6: 126,844,403 R75* probably null Het
Neurl4 A G 11: 69,910,340 N1181S probably damaging Het
Olfr1431 T C 19: 12,210,460 I298T probably damaging Het
Phf1 A G 17: 26,936,869 probably benign Het
Pkhd1l1 T C 15: 44,512,849 I969T probably benign Het
Pprc1 G A 19: 46,071,751 R1538Q probably damaging Het
Rasd1 C T 11: 59,963,952 G234D possibly damaging Het
Rnf152 T C 1: 105,284,824 T3A probably benign Het
Rrh C T 3: 129,811,697 V115I probably benign Het
Rundc3a G T 11: 102,399,634 E217* probably null Het
Sae1 A T 7: 16,330,656 V306E possibly damaging Het
Serpinb7 T C 1: 107,435,372 S89P possibly damaging Het
Sgo2b T A 8: 63,941,084 T74S possibly damaging Het
Slc5a7 T C 17: 54,296,994 D48G probably damaging Het
Stn1 T C 19: 47,516,173 M177V possibly damaging Het
Tgm1 T C 14: 55,704,935 E653G possibly damaging Het
Thsd4 T C 9: 60,394,115 K299R probably benign Het
Ttc22 A G 4: 106,635,989 T278A probably damaging Het
Ubl4b G T 3: 107,554,825 Q40K possibly damaging Het
Zfp677 A G 17: 21,393,237 D31G probably damaging Het
Other mutations in Fam13a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00265:Fam13a APN 6 58946126 missense probably benign 0.03
IGL00467:Fam13a APN 6 58940113 splice site probably benign
IGL01288:Fam13a APN 6 58956727 missense probably damaging 1.00
IGL01503:Fam13a APN 6 58956080 missense probably damaging 1.00
IGL01532:Fam13a APN 6 58940295 missense probably damaging 0.96
IGL02197:Fam13a APN 6 58935601 missense possibly damaging 0.65
IGL03189:Fam13a APN 6 58956858 missense probably damaging 0.99
R0361:Fam13a UTSW 6 58987174 missense probably benign
R0512:Fam13a UTSW 6 58956699 missense probably damaging 1.00
R0801:Fam13a UTSW 6 58984012 missense probably benign 0.01
R1222:Fam13a UTSW 6 58935722 splice site probably benign
R1378:Fam13a UTSW 6 58956751 missense probably benign 0.04
R1535:Fam13a UTSW 6 58939347 missense probably damaging 0.99
R1614:Fam13a UTSW 6 58940184 missense probably damaging 1.00
R1663:Fam13a UTSW 6 58954372 nonsense probably null
R1809:Fam13a UTSW 6 58965060 critical splice donor site probably null
R1905:Fam13a UTSW 6 58953490 missense probably damaging 1.00
R2568:Fam13a UTSW 6 58935609 missense probably damaging 1.00
R3771:Fam13a UTSW 6 58987186 missense probably benign 0.11
R4654:Fam13a UTSW 6 58987167 missense probably benign
R5244:Fam13a UTSW 6 58953474 nonsense probably null
R5488:Fam13a UTSW 6 59024318 missense probably null 1.00
R5489:Fam13a UTSW 6 59024318 missense probably null 1.00
R5712:Fam13a UTSW 6 58956699 missense probably damaging 1.00
R5729:Fam13a UTSW 6 58939307 missense probably damaging 0.99
R5969:Fam13a UTSW 6 58965198 missense probably damaging 1.00
R6074:Fam13a UTSW 6 58989738 splice site probably null
R6275:Fam13a UTSW 6 58954257 missense probably damaging 0.98
R6306:Fam13a UTSW 6 58940254 missense probably benign 0.02
R6338:Fam13a UTSW 6 58953499 missense probably damaging 1.00
R6603:Fam13a UTSW 6 58987189 missense probably benign 0.31
R7508:Fam13a UTSW 6 58987284 missense probably damaging 1.00
R7516:Fam13a UTSW 6 58955263 missense probably damaging 1.00
R7688:Fam13a UTSW 6 58935707 missense probably benign 0.05
R7728:Fam13a UTSW 6 58954299 missense possibly damaging 0.79
Posted On2015-04-16