Incidental Mutation 'R5897:Fam13b'
ID 457616
Institutional Source Beutler Lab
Gene Symbol Fam13b
Ensembl Gene ENSMUSG00000036501
Gene Name family with sequence similarity 13, member B
Synonyms 2610024E20Rik
MMRRC Submission 044096-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.395) question?
Stock # R5897 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 34442352-34506823 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34454081 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 542 (V542A)
Ref Sequence ENSEMBL: ENSMUSP00000038199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040506]
AlphaFold Q8K2H3
Predicted Effect possibly damaging
Transcript: ENSMUST00000040506
AA Change: V542A

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: V542A

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: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548H24Rik T C 5: 31,485,964 (GRCm38) probably benign Het
5430419D17Rik A T 7: 131,196,551 (GRCm38) probably null Het
Abi3bp A G 16: 56,604,669 (GRCm38) T489A possibly damaging Het
Adam3 T C 8: 24,697,228 (GRCm38) T416A probably benign Het
Agbl3 A G 6: 34,803,573 (GRCm38) I494V probably benign Het
Akap9 T C 5: 4,077,904 (GRCm38) S3747P probably benign Het
Arhgef18 G T 8: 3,439,682 (GRCm38) R338L probably damaging Het
Atg16l1 G T 1: 87,785,997 (GRCm38) probably null Het
BC024139 A G 15: 76,126,139 (GRCm38) S56P possibly damaging Het
Ccdc175 T A 12: 72,159,804 (GRCm38) I223L probably benign Het
Cep76 T A 18: 67,638,328 (GRCm38) Q78L probably benign Het
Cyp20a1 A C 1: 60,353,061 (GRCm38) N92T probably damaging Het
Cyp2c68 T C 19: 39,712,531 (GRCm38) D281G probably benign Het
Cyp2j12 T C 4: 96,102,042 (GRCm38) N429S probably damaging Het
Dchs2 G A 3: 83,285,410 (GRCm38) V1721I possibly damaging Het
Elovl4 G A 9: 83,790,104 (GRCm38) T54M possibly damaging Het
Gje1 A T 10: 14,716,723 (GRCm38) I105N probably damaging Het
Grm4 G T 17: 27,435,163 (GRCm38) F349L probably benign Het
Hsd17b3 A G 13: 64,088,985 (GRCm38) probably null Het
Khdrbs1 A T 4: 129,720,655 (GRCm38) D368E probably benign Het
Klra10 T A 6: 130,281,829 (GRCm38) R32* probably null Het
Lrrc7 T A 3: 158,164,353 (GRCm38) I644F probably damaging Het
Olfr31 G T 14: 14,328,120 (GRCm38) G3V probably benign Het
Olfr94 A T 17: 37,197,260 (GRCm38) L161Q probably damaging Het
Otogl G A 10: 107,777,117 (GRCm38) silent Het
Pbx3 A T 2: 34,371,908 (GRCm38) S5T probably benign Het
Pcdhb13 T A 18: 37,443,211 (GRCm38) V214E probably benign Het
Pkd1l1 T C 11: 8,879,176 (GRCm38) D1022G probably benign Het
Pla2g4a T A 1: 149,865,148 (GRCm38) K380I probably damaging Het
Prl3b1 A G 13: 27,245,875 (GRCm38) T99A probably benign Het
Prr12 C T 7: 45,043,384 (GRCm38) V1575I probably damaging Het
Ptpn5 C T 7: 47,079,514 (GRCm38) V451I probably benign Het
Rab1a C T 11: 20,218,867 (GRCm38) R51* probably null Het
Skint9 A G 4: 112,413,916 (GRCm38) I99T possibly damaging Het
Tbc1d8 A G 1: 39,392,109 (GRCm38) V394A possibly damaging Het
Tcf20 A T 15: 82,851,783 (GRCm38) C1822* probably null Het
Tdrd6 T A 17: 43,624,877 (GRCm38) D1760V probably damaging Het
Tinag C A 9: 77,045,444 (GRCm38) C86F probably damaging Het
Tmtc2 A T 10: 105,413,598 (GRCm38) N91K probably damaging Het
Tmub1 G A 5: 24,446,927 (GRCm38) T13M probably benign Het
Txn2 G A 15: 77,924,526 (GRCm38) A135V probably benign Het
Ush2a G A 1: 188,821,738 (GRCm38) G3475R probably damaging Het
Usp38 T C 8: 81,005,453 (GRCm38) D276G probably benign Het
Vax1 T A 19: 59,169,801 (GRCm38) I77F unknown Het
Vmn2r108 C T 17: 20,471,318 (GRCm38) M314I probably benign Het
Vmn2r4 C A 3: 64,415,266 (GRCm38) G11* probably null Het
Zcchc14 T C 8: 121,605,160 (GRCm38) probably benign Het
Other mutations in Fam13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Fam13b APN 18 34,487,096 (GRCm38) missense possibly damaging 0.92
IGL00402:Fam13b APN 18 34,454,718 (GRCm38) missense probably damaging 1.00
IGL00556:Fam13b APN 18 34,497,435 (GRCm38) missense probably damaging 0.99
IGL02123:Fam13b APN 18 34,445,618 (GRCm38) unclassified probably benign
IGL02313:Fam13b APN 18 34,454,656 (GRCm38) missense probably damaging 1.00
IGL02346:Fam13b APN 18 34,462,105 (GRCm38) missense probably benign 0.00
IGL02347:Fam13b APN 18 34,454,704 (GRCm38) missense probably damaging 1.00
IGL02694:Fam13b APN 18 34,451,206 (GRCm38) critical splice donor site probably null
IGL03347:Fam13b APN 18 34,462,051 (GRCm38) splice site probably benign
R0109:Fam13b UTSW 18 34,451,308 (GRCm38) missense probably benign 0.00
R0233:Fam13b UTSW 18 34,448,084 (GRCm38) missense probably damaging 1.00
R0455:Fam13b UTSW 18 34,445,528 (GRCm38) unclassified probably benign
R1229:Fam13b UTSW 18 34,445,583 (GRCm38) missense probably benign 0.05
R1397:Fam13b UTSW 18 34,445,583 (GRCm38) missense probably benign 0.05
R1571:Fam13b UTSW 18 34,497,432 (GRCm38) missense possibly damaging 0.92
R1703:Fam13b UTSW 18 34,451,439 (GRCm38) critical splice acceptor site probably null
R1732:Fam13b UTSW 18 34,487,134 (GRCm38) missense probably benign 0.04
R1777:Fam13b UTSW 18 34,457,760 (GRCm38) missense possibly damaging 0.84
R1956:Fam13b UTSW 18 34,445,329 (GRCm38) missense possibly damaging 0.69
R2296:Fam13b UTSW 18 34,494,761 (GRCm38) missense possibly damaging 0.88
R3881:Fam13b UTSW 18 34,462,059 (GRCm38) critical splice donor site probably null
R3896:Fam13b UTSW 18 34,462,955 (GRCm38) splice site probably benign
R5277:Fam13b UTSW 18 34,462,190 (GRCm38) missense probably benign
R5759:Fam13b UTSW 18 34,497,435 (GRCm38) missense probably damaging 0.99
R5817:Fam13b UTSW 18 34,457,797 (GRCm38) missense possibly damaging 0.93
R6009:Fam13b UTSW 18 34,497,405 (GRCm38) missense possibly damaging 0.92
R6020:Fam13b UTSW 18 34,494,774 (GRCm38) missense probably damaging 1.00
R6087:Fam13b UTSW 18 34,487,139 (GRCm38) missense possibly damaging 0.48
R6151:Fam13b UTSW 18 34,494,277 (GRCm38) missense probably damaging 0.96
R6454:Fam13b UTSW 18 34,457,662 (GRCm38) critical splice donor site probably null
R6464:Fam13b UTSW 18 34,473,631 (GRCm38) nonsense probably null
R6679:Fam13b UTSW 18 34,487,022 (GRCm38) missense possibly damaging 0.53
R6723:Fam13b UTSW 18 34,498,026 (GRCm38) missense possibly damaging 0.86
R6990:Fam13b UTSW 18 34,497,447 (GRCm38) missense possibly damaging 0.92
R7420:Fam13b UTSW 18 34,494,611 (GRCm38) missense probably damaging 1.00
R7517:Fam13b UTSW 18 34,494,607 (GRCm38) missense probably damaging 0.98
R7534:Fam13b UTSW 18 34,498,007 (GRCm38) missense probably damaging 0.97
R7889:Fam13b UTSW 18 34,457,691 (GRCm38) missense probably benign 0.00
R8139:Fam13b UTSW 18 34,473,633 (GRCm38) missense possibly damaging 0.50
R8776:Fam13b UTSW 18 34,451,393 (GRCm38) missense probably damaging 1.00
R8776-TAIL:Fam13b UTSW 18 34,451,393 (GRCm38) missense probably damaging 1.00
R8826:Fam13b UTSW 18 34,498,017 (GRCm38) missense probably damaging 0.96
R9166:Fam13b UTSW 18 34,462,199 (GRCm38) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- CTCTATGGAGACCAGACTGACC -3'
(R):5'- ATGACCTGCTTTAGAAGAGCTTG -3'

Sequencing Primer
(F):5'- AAGAGATCTGCCTGCCTCTG -3'
(R):5'- GACCTGCTTTAGAAGAGCTTGATATC -3'
Posted On 2017-02-15