Incidental Mutation 'R8776-TAIL:Fam13b'
ID 668088
Institutional Source Beutler Lab
Gene Symbol Fam13b
Ensembl Gene ENSMUSG00000036501
Gene Name family with sequence similarity 13, member B
Synonyms 2610024E20Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R8776-TAIL
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 34442352-34506823 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34451393 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 573 (R573C)
Ref Sequence ENSEMBL: ENSMUSP00000038199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040506]
AlphaFold Q8K2H3
Predicted Effect probably damaging
Transcript: ENSMUST00000040506
AA Change: R573C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: R573C

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
Meta Mutation Damage Score 0.3289 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A G 2: 35,354,990 Y117H probably benign Het
a A G 2: 155,050,692 D97G probably damaging Het
Cdca7l T C 12: 117,872,363 S190P probably damaging Het
Chst9 T A 18: 15,453,029 Y159F possibly damaging Het
Col26a1 G A 5: 136,882,854 R52C probably damaging Het
Dchs2 A T 3: 83,356,394 D3323V possibly damaging Het
Dqx1 T A 6: 83,058,638 I44N probably damaging Het
Edc4 A G 8: 105,887,360 D415G probably damaging Het
Enpp3 T A 10: 24,774,835 D801V probably damaging Het
Fgfr2 A T 7: 130,196,272 I415N possibly damaging Het
Gm32742 T A 9: 51,155,930 M366L probably benign Het
Gm49336 A T 14: 60,220,066 S563T possibly damaging Het
Gm5475 T C 15: 100,427,011 F107L unknown Het
Lamp3 T C 16: 19,655,502 D374G probably damaging Het
Lin9 T C 1: 180,668,885 probably null Het
Mef2d T C 3: 88,167,649 S381P probably benign Het
Mfsd9 A G 1: 40,773,755 *467Q probably null Het
Mpo A G 11: 87,802,712 I639V possibly damaging Het
Mrgprh T C 17: 12,877,488 I205T probably benign Het
Ncapd2 T C 6: 125,177,513 D580G probably benign Het
Nkain4 T A 2: 180,944,127 I48F probably damaging Het
Notch4 C A 17: 34,587,605 R1839S probably damaging Het
Nr6a1 A G 2: 38,760,232 Y129H probably damaging Het
Olfr832 T A 9: 18,944,990 I114N possibly damaging Het
Robo1 G T 16: 73,024,253 E1294* probably null Het
Sept8 A G 11: 53,537,516 K331R probably benign Het
Shmt2 A G 10: 127,520,916 probably null Het
Skint6 A C 4: 112,804,688 L1233R possibly damaging Het
Slc41a3 A T 6: 90,644,183 T402S probably benign Het
Slc9a2 A G 1: 40,742,729 T373A probably damaging Het
Spata31d1b T C 13: 59,715,469 C144R probably benign Het
Syne1 A G 10: 5,231,783 V4184A possibly damaging Het
Tenm4 G A 7: 96,895,032 R2122H probably damaging Het
Tlnrd1 A T 7: 83,883,108 D38E probably benign Het
Tnnc2 C T 2: 164,778,215 A6T probably benign Het
Usp9y A G Y: 1,356,320 V1127A probably benign Het
Ylpm1 T C 12: 85,030,421 Y1307H probably damaging Het
Zfp266 T C 9: 20,500,213 S223G probably benign Het
Other mutations in Fam13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Fam13b APN 18 34487096 missense possibly damaging 0.92
IGL00402:Fam13b APN 18 34454718 missense probably damaging 1.00
IGL00556:Fam13b APN 18 34497435 missense probably damaging 0.99
IGL02123:Fam13b APN 18 34445618 unclassified probably benign
IGL02313:Fam13b APN 18 34454656 missense probably damaging 1.00
IGL02346:Fam13b APN 18 34462105 missense probably benign 0.00
IGL02347:Fam13b APN 18 34454704 missense probably damaging 1.00
IGL02694:Fam13b APN 18 34451206 critical splice donor site probably null
IGL03347:Fam13b APN 18 34462051 splice site probably benign
R0109:Fam13b UTSW 18 34451308 missense probably benign 0.00
R0233:Fam13b UTSW 18 34448084 missense probably damaging 1.00
R0455:Fam13b UTSW 18 34445528 unclassified probably benign
R1229:Fam13b UTSW 18 34445583 missense probably benign 0.05
R1397:Fam13b UTSW 18 34445583 missense probably benign 0.05
R1571:Fam13b UTSW 18 34497432 missense possibly damaging 0.92
R1703:Fam13b UTSW 18 34451439 critical splice acceptor site probably null
R1732:Fam13b UTSW 18 34487134 missense probably benign 0.04
R1777:Fam13b UTSW 18 34457760 missense possibly damaging 0.84
R1956:Fam13b UTSW 18 34445329 missense possibly damaging 0.69
R2296:Fam13b UTSW 18 34494761 missense possibly damaging 0.88
R3881:Fam13b UTSW 18 34462059 critical splice donor site probably null
R3896:Fam13b UTSW 18 34462955 splice site probably benign
R5277:Fam13b UTSW 18 34462190 missense probably benign
R5759:Fam13b UTSW 18 34497435 missense probably damaging 0.99
R5817:Fam13b UTSW 18 34457797 missense possibly damaging 0.93
R5897:Fam13b UTSW 18 34454081 missense possibly damaging 0.83
R6009:Fam13b UTSW 18 34497405 missense possibly damaging 0.92
R6020:Fam13b UTSW 18 34494774 missense probably damaging 1.00
R6087:Fam13b UTSW 18 34487139 missense possibly damaging 0.48
R6151:Fam13b UTSW 18 34494277 missense probably damaging 0.96
R6454:Fam13b UTSW 18 34457662 critical splice donor site probably null
R6464:Fam13b UTSW 18 34473631 nonsense probably null
R6679:Fam13b UTSW 18 34487022 missense possibly damaging 0.53
R6723:Fam13b UTSW 18 34498026 missense possibly damaging 0.86
R6990:Fam13b UTSW 18 34497447 missense possibly damaging 0.92
R7420:Fam13b UTSW 18 34494611 missense probably damaging 1.00
R7517:Fam13b UTSW 18 34494607 missense probably damaging 0.98
R7534:Fam13b UTSW 18 34498007 missense probably damaging 0.97
R7889:Fam13b UTSW 18 34457691 missense probably benign 0.00
R8139:Fam13b UTSW 18 34473633 missense possibly damaging 0.50
R8776:Fam13b UTSW 18 34451393 missense probably damaging 1.00
R8826:Fam13b UTSW 18 34498017 missense probably damaging 0.96
R9166:Fam13b UTSW 18 34462199 missense probably benign 0.10
Predicted Primers
Posted On 2021-03-08