Incidental Mutation 'R7688:Fam13a'
ID 593201
Institutional Source Beutler Lab
Gene Symbol Fam13a
Ensembl Gene ENSMUSG00000037709
Gene Name family with sequence similarity 13, member A
Synonyms D430015B01Rik
MMRRC Submission 045752-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7688 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 58910521-59001487 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 58912692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 654 (V654I)
Ref Sequence ENSEMBL: ENSMUSP00000087304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089860] [ENSMUST00000173193]
AlphaFold Q8BGI4
Predicted Effect probably benign
Transcript: ENSMUST00000089860
AA Change: V654I

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000087304
Gene: ENSMUSG00000037709
AA Change: V654I

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: V626I

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000134135
Gene: ENSMUSG00000037709
AA Change: V626I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bag6 T C 17: 35,365,868 (GRCm39) Y1102H probably damaging Het
Cldn24 G A 8: 48,275,740 (GRCm39) C188Y probably damaging Het
Dennd4c T C 4: 86,713,377 (GRCm39) W443R probably damaging Het
Dmxl1 T A 18: 50,088,938 (GRCm39) C2806S probably benign Het
Epb41l2 T C 10: 25,355,036 (GRCm39) Y449H probably damaging Het
Ets1 T A 9: 32,607,720 (GRCm39) I14N probably benign Het
F11 A T 8: 45,703,127 (GRCm39) F188I probably damaging Het
Flt1 C T 5: 147,613,135 (GRCm39) V369I probably benign Het
Focad T A 4: 88,096,370 (GRCm39) Y251N probably damaging Het
Gm5150 A G 3: 16,017,747 (GRCm39) S175P probably benign Het
Hnrnpul2 T A 19: 8,797,994 (GRCm39) S117T probably benign Het
Kcnj5 A G 9: 32,234,264 (GRCm39) V17A probably benign Het
Kctd1 T G 18: 15,107,255 (GRCm39) T737P probably benign Het
Kif14 T C 1: 136,422,392 (GRCm39) V894A probably damaging Het
Klhl12 A T 1: 134,416,768 (GRCm39) T497S probably benign Het
Klhl6 C A 16: 19,765,881 (GRCm39) V574L probably damaging Het
Lama1 A T 17: 68,068,623 (GRCm39) D774V Het
Leng1 G A 7: 3,665,809 (GRCm39) P176L probably benign Het
Lig1 T C 7: 13,023,389 (GRCm39) L196P probably benign Het
Macrod1 C A 19: 7,174,230 (GRCm39) Y245* probably null Het
Mcf2l T A 8: 12,998,130 (GRCm39) I6N possibly damaging Het
Megf11 A G 9: 64,599,146 (GRCm39) D687G possibly damaging Het
Muc4 A T 16: 32,570,278 (GRCm39) H446L possibly damaging Het
Oasl2 A T 5: 115,035,909 (GRCm39) I62F probably benign Het
Oog4 CAA CA 4: 143,164,022 (GRCm39) probably null Het
Or14a257 A G 7: 86,138,183 (GRCm39) V192A probably benign Het
Or4b12 A T 2: 90,095,959 (GRCm39) F272I probably damaging Het
Or52e8 C A 7: 104,624,332 (GRCm39) A291S possibly damaging Het
Pdcl2 T C 5: 76,465,770 (GRCm39) N150S probably benign Het
Pfkfb3 A G 2: 11,497,450 (GRCm39) Y54H probably damaging Het
Rab25 A T 3: 88,452,270 (GRCm39) probably null Het
Slc22a18 G A 7: 143,033,560 (GRCm39) G104S probably damaging Het
Slc44a5 T A 3: 153,679,437 (GRCm39) probably null Het
Slc5a8 A G 10: 88,757,561 (GRCm39) Y517C probably damaging Het
Spata18 A G 5: 73,809,005 (GRCm39) N26S probably benign Het
Tas2r115 T A 6: 132,714,643 (GRCm39) S103C probably damaging Het
Tigd2 T A 6: 59,187,382 (GRCm39) M83K probably damaging Het
Tnxb T A 17: 34,890,880 (GRCm39) C408S probably benign Het
Trbj2-3 T A 6: 41,520,159 (GRCm39) S1R possibly damaging Het
Triobp T C 15: 78,845,311 (GRCm39) probably null Het
Uaca A G 9: 60,781,409 (GRCm39) Q1349R probably benign Het
Ube2j2 T A 4: 156,040,885 (GRCm39) L171I probably damaging Het
Usp17ld C A 7: 102,899,982 (GRCm39) G317W probably damaging Het
Vinac1 G A 2: 128,880,964 (GRCm39) Q321* probably null Het
Vmn2r72 T A 7: 85,404,098 (GRCm39) D31V probably benign Het
Zfp317 T G 9: 19,559,251 (GRCm39) H488Q 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
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
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'- TGTGAGTACAGCTCCAAGGC -3'
(R):5'- CTCAAGTTGCATGGAACCTCC -3'

Sequencing Primer
(F):5'- TCCAAGGCTGCCTTCCAGAG -3'
(R):5'- CAGAAAAGAACCACTTTGCACTTGTC -3'
Posted On 2019-11-12