Incidental Mutation 'R6990:Fam13b'
ID 543218
Institutional Source Beutler Lab
Gene Symbol Fam13b
Ensembl Gene ENSMUSG00000036501
Gene Name family with sequence similarity 13, member B
Synonyms 2610024E20Rik
MMRRC Submission 045096-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.319) question?
Stock # R6990 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 34575404-34639884 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34630500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 86 (V86A)
Ref Sequence ENSEMBL: ENSMUSP00000038199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040506]
AlphaFold Q8K2H3
Predicted Effect possibly damaging
Transcript: ENSMUST00000040506
AA Change: V86A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: V86A

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
RhoGAP 36 209 3.28e-44 SMART
coiled coil region 220 240 N/A INTRINSIC
low complexity region 280 295 N/A INTRINSIC
low complexity region 484 495 N/A INTRINSIC
coiled coil region 507 532 N/A INTRINSIC
low complexity region 719 726 N/A INTRINSIC
coiled coil region 778 807 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T G 10: 78,902,925 (GRCm39) T464P probably damaging Het
Abca16 A G 7: 120,126,950 (GRCm39) I1214V probably benign Het
Arap2 A G 5: 62,833,860 (GRCm39) F869S probably damaging Het
Astn2 G T 4: 65,910,540 (GRCm39) H431N possibly damaging Het
Bap1 A G 14: 30,977,608 (GRCm39) T308A probably benign Het
Bcr G A 10: 74,966,868 (GRCm39) E492K possibly damaging Het
Bltp3b A G 10: 89,641,979 (GRCm39) D1050G probably benign Het
Camta1 A G 4: 151,229,501 (GRCm39) F444L probably damaging Het
Chd7 A T 4: 8,844,525 (GRCm39) T1545S probably benign Het
Dnmt1 A T 9: 20,827,110 (GRCm39) Y877* probably null Het
Gm11562 T A 11: 99,510,817 (GRCm39) R128W unknown Het
Krt86 A G 15: 101,371,714 (GRCm39) I95V probably benign Het
Mroh2b A G 15: 4,942,284 (GRCm39) T349A possibly damaging Het
Ms4a7 A T 19: 11,310,605 (GRCm39) L38Q probably damaging Het
Myo1h T C 5: 114,468,221 (GRCm39) S339P probably damaging Het
Nf2 T C 11: 4,749,944 (GRCm39) I46V probably benign Het
Nr1h4 T C 10: 89,290,792 (GRCm39) D416G probably benign Het
Oga G A 19: 45,755,915 (GRCm39) A576V probably benign Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or4p18 A G 2: 88,232,639 (GRCm39) M213T probably benign Het
Pde1c C G 6: 56,419,020 (GRCm39) E87Q possibly damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pga5 A T 19: 10,646,779 (GRCm39) D317E probably benign Het
Pira2 T A 7: 3,844,067 (GRCm39) K568N probably damaging Het
Ppp2cb A G 8: 34,109,161 (GRCm39) D290G probably benign Het
Sall4 T C 2: 168,596,990 (GRCm39) K617E probably damaging Het
Slc7a14 G A 3: 31,277,728 (GRCm39) P626S possibly damaging Het
Speer4b A T 5: 27,702,076 (GRCm39) L228* probably null Het
Spns2 T C 11: 72,380,447 (GRCm39) T59A probably benign Het
Tbc1d5 A T 17: 51,275,260 (GRCm39) N78K probably benign Het
Tmem63a T C 1: 180,788,686 (GRCm39) V341A probably benign Het
Trpt1 A G 19: 6,975,683 (GRCm39) T146A probably benign Het
Tyrp1 T C 4: 80,753,674 (GRCm39) C122R probably damaging Het
Uchl1 A G 5: 66,839,818 (GRCm39) E120G possibly damaging Het
Ucn3 C T 13: 3,991,295 (GRCm39) R119Q possibly damaging Het
Vmn2r2 T G 3: 64,024,608 (GRCm39) I658L probably benign Het
Vmn2r96 T A 17: 18,804,082 (GRCm39) V444E probably benign Het
Wdr54 A C 6: 83,132,629 (GRCm39) probably null Het
Xcr1 A G 9: 123,685,300 (GRCm39) L154P probably benign Het
Zbtb26 T C 2: 37,326,557 (GRCm39) K160E probably benign Het
Zfp157 T G 5: 138,454,772 (GRCm39) Y323* probably null Het
Zfp850 A T 7: 27,689,801 (GRCm39) F136I probably benign Het
Other mutations in Fam13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Fam13b APN 18 34,620,149 (GRCm39) missense possibly damaging 0.92
IGL00402:Fam13b APN 18 34,587,771 (GRCm39) missense probably damaging 1.00
IGL00556:Fam13b APN 18 34,630,488 (GRCm39) missense probably damaging 0.99
IGL02123:Fam13b APN 18 34,578,671 (GRCm39) unclassified probably benign
IGL02313:Fam13b APN 18 34,587,709 (GRCm39) missense probably damaging 1.00
IGL02346:Fam13b APN 18 34,595,158 (GRCm39) missense probably benign 0.00
IGL02347:Fam13b APN 18 34,587,757 (GRCm39) missense probably damaging 1.00
IGL02694:Fam13b APN 18 34,584,259 (GRCm39) critical splice donor site probably null
IGL03347:Fam13b APN 18 34,595,104 (GRCm39) splice site probably benign
R0109:Fam13b UTSW 18 34,584,361 (GRCm39) missense probably benign 0.00
R0233:Fam13b UTSW 18 34,581,137 (GRCm39) missense probably damaging 1.00
R0455:Fam13b UTSW 18 34,578,581 (GRCm39) unclassified probably benign
R1229:Fam13b UTSW 18 34,578,636 (GRCm39) missense probably benign 0.05
R1397:Fam13b UTSW 18 34,578,636 (GRCm39) missense probably benign 0.05
R1571:Fam13b UTSW 18 34,630,485 (GRCm39) missense possibly damaging 0.92
R1703:Fam13b UTSW 18 34,584,492 (GRCm39) critical splice acceptor site probably null
R1732:Fam13b UTSW 18 34,620,187 (GRCm39) missense probably benign 0.04
R1777:Fam13b UTSW 18 34,590,813 (GRCm39) missense possibly damaging 0.84
R1956:Fam13b UTSW 18 34,578,382 (GRCm39) missense possibly damaging 0.69
R2296:Fam13b UTSW 18 34,627,814 (GRCm39) missense possibly damaging 0.88
R3881:Fam13b UTSW 18 34,595,112 (GRCm39) critical splice donor site probably null
R3896:Fam13b UTSW 18 34,596,008 (GRCm39) splice site probably benign
R5277:Fam13b UTSW 18 34,595,243 (GRCm39) missense probably benign
R5759:Fam13b UTSW 18 34,630,488 (GRCm39) missense probably damaging 0.99
R5817:Fam13b UTSW 18 34,590,850 (GRCm39) missense possibly damaging 0.93
R5897:Fam13b UTSW 18 34,587,134 (GRCm39) missense possibly damaging 0.83
R6009:Fam13b UTSW 18 34,630,458 (GRCm39) missense possibly damaging 0.92
R6020:Fam13b UTSW 18 34,627,827 (GRCm39) missense probably damaging 1.00
R6087:Fam13b UTSW 18 34,620,192 (GRCm39) missense possibly damaging 0.48
R6151:Fam13b UTSW 18 34,627,330 (GRCm39) missense probably damaging 0.96
R6454:Fam13b UTSW 18 34,590,715 (GRCm39) critical splice donor site probably null
R6464:Fam13b UTSW 18 34,606,684 (GRCm39) nonsense probably null
R6679:Fam13b UTSW 18 34,620,075 (GRCm39) missense possibly damaging 0.53
R6723:Fam13b UTSW 18 34,631,079 (GRCm39) missense possibly damaging 0.86
R7420:Fam13b UTSW 18 34,627,664 (GRCm39) missense probably damaging 1.00
R7517:Fam13b UTSW 18 34,627,660 (GRCm39) missense probably damaging 0.98
R7534:Fam13b UTSW 18 34,631,060 (GRCm39) missense probably damaging 0.97
R7889:Fam13b UTSW 18 34,590,744 (GRCm39) missense probably benign 0.00
R8139:Fam13b UTSW 18 34,606,686 (GRCm39) missense possibly damaging 0.50
R8776:Fam13b UTSW 18 34,584,446 (GRCm39) missense probably damaging 1.00
R8776-TAIL:Fam13b UTSW 18 34,584,446 (GRCm39) missense probably damaging 1.00
R8826:Fam13b UTSW 18 34,631,070 (GRCm39) missense probably damaging 0.96
R9166:Fam13b UTSW 18 34,595,252 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- ACTCCCTTAACTATATACCCAGAGG -3'
(R):5'- AGGCTTTCCAAAAGTGTGAGC -3'

Sequencing Primer
(F):5'- TATATACCCAGAGGACAAACAAGG -3'
(R):5'- CCAAAAGTGTGAGCATTTTAAGTTG -3'
Posted On 2018-11-28