Incidental Mutation 'R6723:Fam13b'
ID 529726
Institutional Source Beutler Lab
Gene Symbol Fam13b
Ensembl Gene ENSMUSG00000036501
Gene Name family with sequence similarity 13, member B
Synonyms 2610024E20Rik
MMRRC Submission 044841-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.395) question?
Stock # R6723 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 34442352-34506823 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34498026 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 33 (H33Q)
Ref Sequence ENSEMBL: ENSMUSP00000038199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040506]
AlphaFold Q8K2H3
Predicted Effect possibly damaging
Transcript: ENSMUST00000040506
AA Change: H33Q

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: H33Q

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: 98.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik T C 10: 82,289,823 Y2451C possibly damaging Het
Ahnak2 A G 12: 112,778,793 S740P probably damaging Het
Akt3 A T 1: 177,050,190 Y337* probably null Het
Bcl11a C A 11: 24,163,646 P330T probably damaging Het
Cyp2d12 A T 15: 82,556,884 I124F probably benign Het
Dhdds T C 4: 133,994,265 T74A probably damaging Het
Dio3 G A 12: 110,279,557 C109Y possibly damaging Het
Dnah8 G A 17: 30,748,568 D2585N probably benign Het
Dock7 A G 4: 99,003,916 V811A possibly damaging Het
Efcab3 A T 11: 105,117,080 T329S possibly damaging Het
Esp1 A T 17: 40,728,856 I11L probably benign Het
Fam13c G A 10: 70,554,525 D539N probably damaging Het
Fgd5 A G 6: 91,988,030 T257A probably benign Het
Gm5134 A G 10: 76,008,619 D603G probably benign Het
Gtpbp2 T C 17: 46,168,276 V588A probably benign Het
Ift140 A G 17: 25,033,116 I312M probably benign Het
Inpp5j T C 11: 3,500,640 N571S probably damaging Het
Iqgap1 T G 7: 80,723,822 D1473A probably benign Het
Ivl T G 3: 92,571,387 K457T unknown Het
Kdm3b T C 18: 34,793,005 I66T probably damaging Het
Kif21a A T 15: 90,940,446 M1430K probably damaging Het
Klhl25 T A 7: 75,865,991 L215Q possibly damaging Het
Lim2 T A 7: 43,435,675 M163K probably benign Het
Lrig1 T C 6: 94,626,405 D254G probably damaging Het
Mff A G 1: 82,751,666 I122V possibly damaging Het
Mrpl15 A C 1: 4,782,566 probably null Het
Mylk A G 16: 34,929,888 Y1199C possibly damaging Het
Nlrp3 G A 11: 59,565,192 C938Y probably damaging Het
Notch1 T C 2: 26,478,106 N623D probably damaging Het
Obscn T G 11: 59,054,998 E4129A probably damaging Het
Olfr1221 G T 2: 89,112,296 T72N possibly damaging Het
Olfr1423 A G 19: 12,036,275 S156P probably damaging Het
Olfr173 T C 16: 58,797,432 K138R probably benign Het
Olfr517 A T 7: 108,868,588 C189S probably damaging Het
Olfr808 A T 10: 129,768,415 L306F probably benign Het
Parm1 C T 5: 91,622,997 P291S probably damaging Het
Pcsk1 T A 13: 75,093,069 probably null Het
Pi4ka A G 16: 17,376,982 L184P possibly damaging Het
Piezo1 T G 8: 122,507,627 Q93H probably benign Het
Pkd2l2 A T 18: 34,438,157 Y575F probably damaging Het
Plekhn1 A C 4: 156,224,569 F258C probably damaging Het
Pole C T 5: 110,323,616 H1409Y probably benign Het
Rae1 T C 2: 173,012,248 I273T probably damaging Het
Rag1 A G 2: 101,643,645 V384A probably damaging Het
Rnaseh1 T C 12: 28,649,762 L25P probably damaging Het
Serpinb12 A G 1: 106,949,158 H68R probably benign Het
Sh3tc2 A T 18: 61,977,954 I294F probably damaging Het
Sirpb1b A C 3: 15,548,798 L75V possibly damaging Het
Slc12a6 A T 2: 112,337,942 T277S probably damaging Het
Slc7a12 A T 3: 14,499,197 E43D probably benign Het
Spata31d1c T A 13: 65,035,944 D433E probably benign Het
Tbl2 A T 5: 135,159,276 Y308F probably damaging Het
Tfec T C 6: 16,835,302 Y159C probably damaging Het
Tmem8 C A 17: 26,120,636 T616N probably damaging Het
Top1mt G T 15: 75,667,433 T371K probably benign Het
Trim24 T C 6: 37,951,468 V541A probably benign Het
Ttc16 T C 2: 32,768,037 Y456C possibly damaging Het
Ttn G A 2: 76,770,097 R17204* probably null Het
Ugt1a6b T C 1: 88,107,717 V259A probably benign Het
Unc5a T C 13: 54,995,889 W129R probably benign Het
Vmn1r63 T A 7: 5,802,949 H228L probably damaging Het
Whamm G T 7: 81,596,120 V775F probably damaging Het
Zfc3h1 T A 10: 115,420,733 I1536N probably benign Het
Zfp1 T C 8: 111,670,339 S317P probably damaging Het
Zfp58 T C 13: 67,494,073 T52A 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
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'- GGGTAACTGCCATTTCCAGG -3'
(R):5'- AGTGCACATTCAGGTGTAAAAGC -3'

Sequencing Primer
(F):5'- GGGTAACTGCCATTTCCAGGTAAATC -3'
(R):5'- ATGTATTTACTCATATTGCCACCTG -3'
Posted On 2018-08-01