Incidental Mutation 'R5712:Fam13a'
ID 450943
Institutional Source Beutler Lab
Gene Symbol Fam13a
Ensembl Gene ENSMUSG00000037709
Gene Name family with sequence similarity 13, member A
Synonyms D430015B01Rik
MMRRC Submission 043334-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5712 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 58910521-59001487 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58933684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 302 (D302V)
Ref Sequence ENSEMBL: ENSMUSP00000134135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089860] [ENSMUST00000173193]
AlphaFold Q8BGI4
Predicted Effect probably damaging
Transcript: ENSMUST00000089860
AA Change: D302V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087304
Gene: ENSMUSG00000037709
AA Change: D302V

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 damaging
Transcript: ENSMUST00000173193
AA Change: D302V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134135
Gene: ENSMUSG00000037709
AA Change: D302V

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
Meta Mutation Damage Score 0.3525 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,981,563 (GRCm39) T133A probably benign Het
Adcy8 C T 15: 64,626,715 (GRCm39) E708K probably damaging Het
Alkbh1 A G 12: 87,475,883 (GRCm39) C300R probably benign Het
Arhgap11a T C 2: 113,675,646 (GRCm39) N52D probably benign Het
Ash1l T A 3: 88,959,297 (GRCm39) S2225T probably damaging Het
Aspn A T 13: 49,716,995 (GRCm39) Y257F probably damaging Het
Atp2b4 A C 1: 133,658,278 (GRCm39) V544G probably damaging Het
Bclaf1 T G 10: 20,209,277 (GRCm39) Y498D probably damaging Het
Cacna1d A G 14: 29,796,954 (GRCm39) I1520T probably damaging Het
Castor1 T C 11: 4,168,378 (GRCm39) L22P probably damaging Het
Cfap57 G T 4: 118,471,992 (GRCm39) P129Q probably damaging Het
Clcn3 A G 8: 61,390,332 (GRCm39) probably null Het
Epx A T 11: 87,765,679 (GRCm39) Y93* probably null Het
Erich6b T A 14: 75,896,340 (GRCm39) D75E possibly damaging Het
Exoc3l4 T A 12: 111,390,476 (GRCm39) Y350* probably null Het
Fbxo17 G A 7: 28,436,897 (GRCm39) R284H probably damaging Het
Fga C T 3: 82,940,440 (GRCm39) T698I possibly damaging Het
Fsip2 T C 2: 82,839,192 (GRCm39) S6987P possibly damaging Het
Gbp9 T A 5: 105,242,421 (GRCm39) N106I possibly damaging Het
Gls T A 1: 52,235,911 (GRCm39) K401N probably damaging Het
Gpatch2l A G 12: 86,291,254 (GRCm39) K146E probably damaging Het
Gpr3 A G 4: 132,937,719 (GRCm39) S318P probably benign Het
Kbtbd7 T C 14: 79,666,205 (GRCm39) V679A possibly damaging Het
Kcnu1 T A 8: 26,409,678 (GRCm39) L127H probably damaging Het
Lck G T 4: 129,450,103 (GRCm39) H214Q probably benign Het
Lrch4 A C 5: 137,636,188 (GRCm39) S380R possibly damaging Het
Lrrk2 A T 15: 91,586,425 (GRCm39) K414* probably null Het
Maco1 A T 4: 134,555,369 (GRCm39) M368K probably benign Het
Med11 A G 11: 70,344,058 (GRCm39) E126G probably damaging Het
Mknk1 A G 4: 115,712,203 (GRCm39) probably null Het
Mst1 T C 9: 107,960,107 (GRCm39) C355R probably damaging Het
Mtcl2 T A 2: 156,872,841 (GRCm39) E890V probably damaging Het
Myl10 T C 5: 136,723,092 (GRCm39) F14L probably damaging Het
Nfrkb C T 9: 31,325,932 (GRCm39) T1125M probably benign Het
Nin T C 12: 70,089,543 (GRCm39) T1291A probably damaging Het
Pcnt T C 10: 76,265,105 (GRCm39) Q335R probably damaging Het
Phc2 A G 4: 128,638,888 (GRCm39) T83A probably damaging Het
Rdh19 T A 10: 127,692,756 (GRCm39) M141K probably benign Het
Rnf17 G A 14: 56,708,856 (GRCm39) V759I probably benign Het
Sirt7 A T 11: 120,511,677 (GRCm39) Y18* probably null Het
Slc27a5 T C 7: 12,732,010 (GRCm39) probably benign Het
Synpo2 T A 3: 122,914,859 (GRCm39) I56F probably damaging Het
Tdrd6 C A 17: 43,937,299 (GRCm39) G1250C probably damaging Het
Tmem190 G A 7: 4,787,288 (GRCm39) G164D probably damaging Het
Tmigd1 T C 11: 76,797,858 (GRCm39) Y67H probably damaging Het
Trim3 T A 7: 105,268,743 (GRCm39) E70D probably damaging Het
Uap1 A G 1: 169,994,414 (GRCm39) F21L possibly damaging Het
Vmn1r176 A T 7: 23,534,925 (GRCm39) V76D probably benign Het
Vps13d A C 4: 144,813,743 (GRCm39) S3245A probably benign Het
Wnt7a T C 6: 91,343,186 (GRCm39) Y232C probably damaging Het
Zan A G 5: 137,398,360 (GRCm39) V4224A unknown Het
Other mutations in Fam13a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00265:Fam13a APN 6 58,923,111 (GRCm39) missense probably benign 0.03
IGL00467:Fam13a APN 6 58,917,098 (GRCm39) splice site probably benign
IGL01288:Fam13a APN 6 58,933,712 (GRCm39) missense probably damaging 1.00
IGL01503:Fam13a APN 6 58,933,065 (GRCm39) missense probably damaging 1.00
IGL01532:Fam13a APN 6 58,917,280 (GRCm39) missense probably damaging 0.96
IGL02197:Fam13a APN 6 58,912,586 (GRCm39) missense possibly damaging 0.65
IGL02206:Fam13a APN 6 58,964,204 (GRCm39) missense probably benign 0.00
IGL03189:Fam13a APN 6 58,933,843 (GRCm39) missense probably damaging 0.99
BB009:Fam13a UTSW 6 58,960,873 (GRCm39) critical splice donor site probably null
BB019:Fam13a UTSW 6 58,960,873 (GRCm39) critical splice donor site probably null
R0361:Fam13a UTSW 6 58,964,159 (GRCm39) missense probably benign
R0512:Fam13a UTSW 6 58,933,684 (GRCm39) missense probably damaging 1.00
R0801:Fam13a UTSW 6 58,960,997 (GRCm39) missense probably benign 0.01
R1222:Fam13a UTSW 6 58,912,707 (GRCm39) splice site probably benign
R1378:Fam13a UTSW 6 58,933,736 (GRCm39) missense probably benign 0.04
R1535:Fam13a UTSW 6 58,916,332 (GRCm39) missense probably damaging 0.99
R1614:Fam13a UTSW 6 58,917,169 (GRCm39) missense probably damaging 1.00
R1663:Fam13a UTSW 6 58,931,357 (GRCm39) nonsense probably null
R1809:Fam13a UTSW 6 58,942,045 (GRCm39) critical splice donor site probably null
R1905:Fam13a UTSW 6 58,930,475 (GRCm39) missense probably damaging 1.00
R2568:Fam13a UTSW 6 58,912,594 (GRCm39) missense probably damaging 1.00
R3771:Fam13a UTSW 6 58,964,171 (GRCm39) missense probably benign 0.11
R4654:Fam13a UTSW 6 58,964,152 (GRCm39) missense probably benign
R5244:Fam13a UTSW 6 58,930,459 (GRCm39) nonsense probably null
R5488:Fam13a UTSW 6 59,001,303 (GRCm39) missense probably null 1.00
R5489:Fam13a UTSW 6 59,001,303 (GRCm39) missense probably null 1.00
R5729:Fam13a UTSW 6 58,916,292 (GRCm39) missense probably damaging 0.99
R5969:Fam13a UTSW 6 58,942,183 (GRCm39) missense probably damaging 1.00
R6074:Fam13a UTSW 6 58,966,723 (GRCm39) splice site probably null
R6275:Fam13a UTSW 6 58,931,242 (GRCm39) missense probably damaging 0.98
R6306:Fam13a UTSW 6 58,917,239 (GRCm39) missense probably benign 0.02
R6338:Fam13a UTSW 6 58,930,484 (GRCm39) missense probably damaging 1.00
R6603:Fam13a UTSW 6 58,964,174 (GRCm39) missense probably benign 0.31
R7508:Fam13a UTSW 6 58,964,269 (GRCm39) missense probably damaging 1.00
R7516:Fam13a UTSW 6 58,932,248 (GRCm39) missense probably damaging 1.00
R7688:Fam13a UTSW 6 58,912,692 (GRCm39) missense probably benign 0.05
R7728:Fam13a UTSW 6 58,931,284 (GRCm39) missense possibly damaging 0.79
R7932:Fam13a UTSW 6 58,960,873 (GRCm39) critical splice donor site probably null
R8080:Fam13a UTSW 6 58,933,790 (GRCm39) missense probably damaging 1.00
R9494:Fam13a UTSW 6 58,930,508 (GRCm39) missense probably benign 0.00
R9671:Fam13a UTSW 6 58,951,014 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GGAAACTGCAACATAGCCTGC -3'
(R):5'- GGGTGATGATGCTTTCGAGAAC -3'

Sequencing Primer
(F):5'- ACATAGCCTGCATACTTCAGGTGTG -3'
(R):5'- GCTTTCGAGAACAGTGTTAACCTC -3'
Posted On 2017-01-03