Incidental Mutation 'R5729:Fam13a'
ID 452652
Institutional Source Beutler Lab
Gene Symbol Fam13a
Ensembl Gene ENSMUSG00000037709
Gene Name family with sequence similarity 13, member A
Synonyms D430015B01Rik
MMRRC Submission 043346-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5729 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 58910521-59001487 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 58916292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 648 (R648S)
Ref Sequence ENSEMBL: ENSMUSP00000087304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089860] [ENSMUST00000173193]
AlphaFold Q8BGI4
Predicted Effect probably damaging
Transcript: ENSMUST00000089860
AA Change: R648S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087304
Gene: ENSMUSG00000037709
AA Change: R648S

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: R620S

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134135
Gene: ENSMUSG00000037709
AA Change: R620S

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 0.0773 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (62/64)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss2 A T 1: 177,623,824 (GRCm39) V46E possibly damaging Het
Aldoart2 T C 12: 55,612,690 (GRCm39) V205A probably benign Het
Atp1a2 A G 1: 172,120,938 (GRCm39) S45P probably damaging Het
Atp4a A G 7: 30,411,851 (GRCm39) K29E possibly damaging Het
AU040320 T A 4: 126,724,208 (GRCm39) D428E probably damaging Het
Bend7 T C 2: 4,768,085 (GRCm39) L347P probably damaging Het
Cacna2d1 T A 5: 16,140,037 (GRCm39) L9* probably null Het
Ccdc103 A T 11: 102,773,904 (GRCm39) I50F probably damaging Het
Cdc5l T C 17: 45,737,495 (GRCm39) I88V probably benign Het
Cracr2a T C 6: 127,584,199 (GRCm39) V86A possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dgkd C T 1: 87,864,054 (GRCm39) Q90* probably null Het
Dnajc21 A T 15: 10,449,682 (GRCm39) D446E probably benign Het
Gabrg2 A G 11: 41,858,450 (GRCm39) V226A probably damaging Het
Gm5499 A T 17: 87,385,944 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Irf2bp1 G T 7: 18,739,172 (GRCm39) E271* probably null Het
Krt86 T G 15: 101,374,429 (GRCm39) V274G probably benign Het
Lats2 A T 14: 57,960,192 (GRCm39) C151S probably benign Het
Mapk3 A T 7: 126,363,979 (GRCm39) T254S probably benign Het
Mat2b A T 11: 40,573,373 (GRCm39) M202K probably damaging Het
Mos A G 4: 3,870,971 (GRCm39) Y282H probably benign Het
Myo3b A G 2: 69,936,083 (GRCm39) K108R probably damaging Het
Naa16 A G 14: 79,593,220 (GRCm39) Y417H probably damaging Het
Oat A T 7: 132,159,984 (GRCm39) I412N probably damaging Het
Or4d11 A T 19: 12,013,272 (GRCm39) I278N probably damaging Het
Pcdh1 A T 18: 38,335,999 (GRCm39) V73D probably damaging Het
Pigv A T 4: 133,392,134 (GRCm39) Y345* probably null Het
Pitpnc1 G T 11: 107,228,264 (GRCm39) F34L probably benign Het
Plxnd1 A G 6: 115,942,838 (GRCm39) L1282P probably damaging Het
Ppp1r3a T C 6: 14,719,762 (GRCm39) D384G probably benign Het
Ppp2ca G A 11: 52,008,856 (GRCm39) E119K probably damaging Het
Psg29 A T 7: 16,944,459 (GRCm39) N323I probably damaging Het
Rasa4 T C 5: 136,122,016 (GRCm39) V108A probably benign Het
Rbm14 A G 19: 4,852,577 (GRCm39) probably benign Het
Rfc1 A T 5: 65,434,795 (GRCm39) V657E probably damaging Het
Rhcg A T 7: 79,250,371 (GRCm39) N237K probably damaging Het
Rpgrip1 A G 14: 52,397,617 (GRCm39) Q1302R probably benign Het
Rragc A G 4: 123,818,645 (GRCm39) M287V possibly damaging Het
Scn7a A G 2: 66,572,301 (GRCm39) probably null Het
Sema6a C T 18: 47,414,410 (GRCm39) C506Y probably damaging Het
Senp1 G T 15: 97,964,412 (GRCm39) H267Q possibly damaging Het
Skor2 A G 18: 76,946,578 (GRCm39) E100G unknown Het
Slc38a11 A T 2: 65,147,365 (GRCm39) C371S probably benign Het
Snai3 G A 8: 123,181,629 (GRCm39) A276V probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Spag6 C T 2: 18,720,525 (GRCm39) T99I probably benign Het
Spop A G 11: 95,376,675 (GRCm39) I243V possibly damaging Het
Sra1 A T 18: 36,800,496 (GRCm39) probably benign Het
Stag3 T A 5: 138,288,485 (GRCm39) S140T possibly damaging Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tbc1d2b G C 9: 90,089,925 (GRCm39) A868G probably benign Het
Tead2 A G 7: 44,870,166 (GRCm39) probably benign Het
Tmem53 C A 4: 117,125,669 (GRCm39) H261N probably damaging Het
Ube4a A T 9: 44,844,627 (GRCm39) S932T probably damaging Het
Usp9y A T Y: 1,381,339 (GRCm39) D827E probably damaging Het
Vmn2r53 T C 7: 12,334,733 (GRCm39) E309G probably damaging Het
Wrn T C 8: 33,758,806 (GRCm39) S1026G probably benign Het
Zfp646 G A 7: 127,484,626 (GRCm39) A1760T probably damaging 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
R5712:Fam13a UTSW 6 58,933,684 (GRCm39) missense probably damaging 1.00
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'- TGTCATGGACAGTGCAAGAG -3'
(R):5'- CACGCGCTATTTACATGTAAAACC -3'

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