Incidental Mutation 'R7534:Fam13b'
ID 583479
Institutional Source Beutler Lab
Gene Symbol Fam13b
Ensembl Gene ENSMUSG00000036501
Gene Name family with sequence similarity 13, member B
Synonyms 2610024E20Rik
MMRRC Submission 045606-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.395) question?
Stock # R7534 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 34442352-34506823 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34498007 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 40 (F40I)
Ref Sequence ENSEMBL: ENSMUSP00000038199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040506]
AlphaFold Q8K2H3
Predicted Effect probably damaging
Transcript: ENSMUST00000040506
AA Change: F40I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: F40I

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik G A 1: 105,741,023 (GRCm38) R993Q probably benign Het
Aif1 A C 17: 35,171,414 (GRCm38) M120R possibly damaging Het
Ank2 T C 3: 126,934,333 (GRCm38) probably null Het
Ankrd11 A T 8: 122,894,410 (GRCm38) I901N probably damaging Het
Apc T C 18: 34,316,962 (GRCm38) S2304P probably damaging Het
AW551984 A T 9: 39,591,481 (GRCm38) C632S probably benign Het
Bicra T C 7: 15,971,935 (GRCm38) N1527S probably damaging Het
Cacna1d A G 14: 30,079,362 (GRCm38) L1363P probably damaging Het
Cacna1g G A 11: 94,411,078 (GRCm38) P2037S probably benign Het
Cdc27 A G 11: 104,508,414 (GRCm38) L724S probably damaging Het
Cttnbp2 C T 6: 18,420,765 (GRCm38) probably null Het
Dchs1 G A 7: 105,772,373 (GRCm38) A280V probably benign Het
Dclk3 G A 9: 111,468,218 (GRCm38) G277R probably benign Het
Ddr1 A G 17: 35,682,622 (GRCm38) probably null Het
Dnah7c A C 1: 46,770,067 (GRCm38) D3515A probably damaging Het
Elovl4 G A 9: 83,790,119 (GRCm38) T49M probably damaging Het
Fancd2os T C 6: 113,597,640 (GRCm38) H135R probably benign Het
Fer1l6 A G 15: 58,638,026 (GRCm38) I1446V probably damaging Het
Fyb2 T A 4: 104,999,348 (GRCm38) Y584* probably null Het
Galnt16 A T 12: 80,597,135 (GRCm38) L442F probably damaging Het
Garem1 T A 18: 21,299,916 (GRCm38) probably benign Het
Ggta1 C T 2: 35,402,428 (GRCm38) R289Q probably damaging Het
Gm11564 T C 11: 99,815,521 (GRCm38) T28A unknown Het
Hcn1 A G 13: 117,975,425 (GRCm38) T642A unknown Het
Hhat A T 1: 192,726,304 (GRCm38) L173H probably damaging Het
Hook1 T G 4: 96,017,597 (GRCm38) I585S probably benign Het
Ighg1 A T 12: 113,329,729 (GRCm38) S114T Het
Kmt2d G A 15: 98,852,018 (GRCm38) P2598L unknown Het
Macc1 A T 12: 119,447,519 (GRCm38) H674L probably benign Het
Mypn T C 10: 63,193,131 (GRCm38) E51G probably benign Het
Olfr1012 A C 2: 85,759,459 (GRCm38) L306V probably benign Het
Olfr134 T A 17: 38,175,297 (GRCm38) M71K probably benign Het
Olfr862 A G 9: 19,884,176 (GRCm38) V43A probably benign Het
Pnliprp2 T A 19: 58,775,142 (GRCm38) S408T probably benign Het
Ppara A C 15: 85,777,726 (GRCm38) Y56S probably benign Het
Ppp1r1a A G 15: 103,532,389 (GRCm38) C114R probably benign Het
Pycard C T 7: 127,993,485 (GRCm38) V57I probably damaging Het
Rin3 T G 12: 102,350,941 (GRCm38) Y143D unknown Het
Slc12a7 A G 13: 73,764,068 (GRCm38) probably benign Het
Slitrk3 C T 3: 73,050,107 (GRCm38) R444H probably damaging Het
Ttf2 C T 3: 100,950,412 (GRCm38) probably null Het
Ufsp2 T A 8: 45,980,324 (GRCm38) I25N probably benign Het
Uqcrc2 A G 7: 120,641,689 (GRCm38) T115A possibly damaging Het
Vmn2r43 T A 7: 8,255,231 (GRCm38) R328* probably null Het
Vmn2r8 T A 5: 108,802,174 (GRCm38) Y269F possibly damaging Het
Zbtb5 T C 4: 44,995,030 (GRCm38) Y118C probably damaging Het
Zeb1 T C 18: 5,766,611 (GRCm38) V374A probably damaging 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
R5897:Fam13b UTSW 18 34,454,081 (GRCm38) missense possibly damaging 0.83
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
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'- AGCTGGGTAACTGCCATTTCC -3'
(R):5'- GTGCACATTCAGGTGTAAAAGC -3'

Sequencing Primer
(F):5'- GGGTAACTGCCATTTCCAGGTAAATC -3'
(R):5'- ATGTATTTACTCATATTGCCACCTG -3'
Posted On 2019-10-17