Incidental Mutation 'R6454:Fam13b'
ID 519509
Institutional Source Beutler Lab
Gene Symbol Fam13b
Ensembl Gene ENSMUSG00000036501
Gene Name family with sequence similarity 13, member B
Synonyms 2610024E20Rik
MMRRC Submission 044590-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.319) question?
Stock # R6454 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 34575404-34639884 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 34590715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040506]
AlphaFold Q8K2H3
Predicted Effect probably null
Transcript: ENSMUST00000040506
SMART Domains Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.1%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l G T 8: 44,079,845 (GRCm39) N126K probably damaging Het
Arid2 C T 15: 96,270,294 (GRCm39) T1469I probably benign Het
Atp12a A G 14: 56,608,290 (GRCm39) T93A probably benign Het
Atp8a2 A T 14: 60,245,948 (GRCm39) probably null Het
Casz1 A T 4: 149,035,952 (GRCm39) I1405F probably damaging Het
Chrnb3 T C 8: 27,883,403 (GRCm39) S100P probably damaging Het
Creld2 T A 15: 88,707,274 (GRCm39) C197* probably null Het
Csmd1 A T 8: 15,971,150 (GRCm39) F3055Y probably damaging Het
Dnah11 T A 12: 117,880,590 (GRCm39) E3843D probably benign Het
Dnah14 T C 1: 181,611,270 (GRCm39) S3799P probably damaging Het
Dpp9 A T 17: 56,513,808 (GRCm39) L102Q probably damaging Het
Eipr1 T G 12: 28,914,761 (GRCm39) I305S probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Faf1 G T 4: 109,699,531 (GRCm39) A359S probably benign Het
Gm14496 A T 2: 181,638,015 (GRCm39) N363I probably damaging Het
Grm8 T G 6: 27,363,775 (GRCm39) H580P possibly damaging Het
Itih5 T C 2: 10,245,479 (GRCm39) F523L probably benign Het
Klhl1 A T 14: 96,517,527 (GRCm39) M383K possibly damaging Het
Lgi4 A T 7: 30,759,557 (GRCm39) T38S probably benign Het
Myh13 T A 11: 67,241,191 (GRCm39) M856K probably benign Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Nlrp9c G A 7: 26,085,199 (GRCm39) R127C possibly damaging Het
Notch2 T C 3: 98,044,722 (GRCm39) I1548T possibly damaging Het
Nphs2 T A 1: 156,146,337 (GRCm39) H179Q probably damaging Het
Nup153 T C 13: 46,863,136 (GRCm39) probably null Het
Nup50l T G 6: 96,142,609 (GRCm39) H145P possibly damaging Het
Odf2l C A 3: 144,859,181 (GRCm39) Q517K possibly damaging Het
Omd A T 13: 49,743,345 (GRCm39) I132F probably damaging Het
Or10d1b A G 9: 39,613,130 (GRCm39) *312Q probably null Het
Or4a81 T C 2: 89,619,522 (GRCm39) Y58C probably damaging Het
Or5b12 T A 19: 12,897,395 (GRCm39) N93Y probably benign Het
Or9g19 A G 2: 85,600,717 (GRCm39) K191E probably benign Het
Otog A G 7: 45,955,241 (GRCm39) N544D probably damaging Het
Ovol3 A G 7: 29,934,800 (GRCm39) Y29H probably damaging Het
Papolb T C 5: 142,515,353 (GRCm39) K97E possibly damaging Het
Pcdhb19 G T 18: 37,632,322 (GRCm39) V706L probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plekhm1 G A 11: 103,268,208 (GRCm39) R588C probably damaging Het
Pnpla6 G T 8: 3,587,986 (GRCm39) V1062L probably damaging Het
Ppp1r9a T A 6: 4,905,827 (GRCm39) F127L probably damaging Het
Rigi T A 4: 40,220,456 (GRCm39) I476F probably damaging Het
Rnf5 A C 17: 34,821,283 (GRCm39) C47W probably damaging Het
Sbno1 A T 5: 124,538,910 (GRCm39) M517K probably damaging Het
Slc44a5 C T 3: 153,948,796 (GRCm39) T188M probably benign Het
Smco1 A G 16: 32,092,041 (GRCm39) T40A possibly damaging Het
Speer4f2 A T 5: 17,579,431 (GRCm39) I77F probably damaging Het
Spem2 A G 11: 69,708,254 (GRCm39) L237P probably damaging Het
Spg7 A G 8: 123,806,162 (GRCm39) K291E possibly damaging Het
Tent5b A G 4: 133,207,720 (GRCm39) D37G probably damaging Het
Tiam2 A T 17: 3,488,938 (GRCm39) T749S probably benign Het
Tln1 T C 4: 43,533,866 (GRCm39) K2291E probably damaging Het
Tm6sf1 A G 7: 81,525,801 (GRCm39) M294V probably damaging Het
Tmem35b T C 4: 127,022,811 (GRCm39) *138R probably null Het
Tpst1 A G 5: 130,130,892 (GRCm39) K121E possibly damaging Het
Tsc22d2 T A 3: 58,323,261 (GRCm39) V51D possibly damaging Het
Tshr C A 12: 91,505,323 (GRCm39) Q754K probably benign Het
Ttc38 T A 15: 85,723,023 (GRCm39) M157K probably damaging Het
Ube2g2 T G 10: 77,470,580 (GRCm39) probably benign Het
Ugt2b37 T G 5: 87,388,836 (GRCm39) D459A probably damaging Het
Usp35 A T 7: 96,960,851 (GRCm39) Y858* probably null Het
Usp35 A T 7: 96,960,767 (GRCm39) N886K probably damaging Het
Wdr33 T C 18: 31,963,028 (GRCm39) V125A possibly damaging Het
Xpnpep1 G A 19: 52,986,310 (GRCm39) T506I possibly damaging 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
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
R6990:Fam13b UTSW 18 34,630,500 (GRCm39) missense possibly damaging 0.92
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'- GTGAATACATGAGGACTAAACCAC -3'
(R):5'- TGTTTCACAGAGCCGTTTCC -3'

Sequencing Primer
(F):5'- TGAGGACTAAACCACAGGAAC -3'
(R):5'- ACAGAGCCGTTTCCTGCATTTAAG -3'
Posted On 2018-05-24