Incidental Mutation 'R7414:Fam135b'
ID 575332
Institutional Source Beutler Lab
Gene Symbol Fam135b
Ensembl Gene ENSMUSG00000036800
Gene Name family with sequence similarity 135, member B
Synonyms 1700010C24Rik, A830008O07Rik
MMRRC Submission 045494-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7414 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 71310800-71600282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 71350105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 345 (R345Q)
Ref Sequence ENSEMBL: ENSMUSP00000022953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022953]
AlphaFold Q9DAI6
Predicted Effect probably damaging
Transcript: ENSMUST00000022953
AA Change: R345Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: R345Q

DomainStartEndE-ValueType
Pfam:DUF3657 111 172 1.9e-19 PFAM
low complexity region 744 757 N/A INTRINSIC
low complexity region 1124 1130 N/A INTRINSIC
Pfam:DUF676 1132 1328 2.7e-60 PFAM
Pfam:PGAP1 1135 1309 3.2e-9 PFAM
Meta Mutation Damage Score 0.1739 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (98/101)
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik G A 5: 139,349,779 (GRCm39) T90M probably damaging Het
Abca4 T A 3: 121,896,387 (GRCm39) S540T probably benign Het
Adcy4 G A 14: 56,019,090 (GRCm39) L156F probably benign Het
Adcyap1 T A 17: 93,510,256 (GRCm39) L95M probably damaging Het
Ahctf1 T C 1: 179,611,670 (GRCm39) T567A probably benign Het
Ankrd26 T C 6: 118,485,741 (GRCm39) I1378V possibly damaging Het
Ankrd44 T A 1: 54,706,539 (GRCm39) H639L probably damaging Het
Arfrp1 C T 2: 181,001,307 (GRCm39) R189Q possibly damaging Het
Astn2 T C 4: 65,459,193 (GRCm39) D1126G possibly damaging Het
Bap1 G C 14: 30,975,572 (GRCm39) G139R probably benign Het
Bms1 C T 6: 118,360,706 (GRCm39) R1254Q possibly damaging Het
Ceacam15 A G 7: 16,407,235 (GRCm39) V94A probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cip2a T C 16: 48,821,998 (GRCm39) F209L probably benign Het
Clec2m T C 6: 129,302,596 (GRCm39) T144A probably benign Het
Clock T C 5: 76,410,611 (GRCm39) T87A probably benign Het
Cntrl A T 2: 35,055,479 (GRCm39) I1706L probably benign Het
Cr2 C A 1: 194,832,344 (GRCm39) V981L probably benign Het
Cxcr6 G A 9: 123,639,287 (GRCm39) W103* probably null Het
Dld A T 12: 31,385,525 (GRCm39) F272Y probably damaging Het
Dmrt2 T A 19: 25,650,950 (GRCm39) D45E probably benign Het
Eif2a T A 3: 58,433,502 (GRCm39) L8* probably null Het
Epg5 G T 18: 78,026,747 (GRCm39) R1246L possibly damaging Het
Ets1 T A 9: 32,664,153 (GRCm39) C350* probably null Het
Fbn2 C T 18: 58,229,122 (GRCm39) R696H probably damaging Het
Gbf1 C A 19: 46,271,797 (GRCm39) Y159* probably null Het
Gcsam T C 16: 45,437,301 (GRCm39) probably null Het
Gmpr2 G T 14: 55,910,259 (GRCm39) probably null Het
H2-T3 C A 17: 36,498,275 (GRCm39) V257L not run Het
Hadha A G 5: 30,331,610 (GRCm39) F449L possibly damaging Het
Haus3 T A 5: 34,323,477 (GRCm39) I378L probably benign Het
Hdac7 T A 15: 97,706,392 (GRCm39) H272L probably benign Het
Icam5 T C 9: 20,948,889 (GRCm39) V747A probably damaging Het
Ifrd2 G A 9: 107,467,370 (GRCm39) V81M possibly damaging Het
Insyn2a G T 7: 134,519,738 (GRCm39) A264D probably benign Het
Ipcef1 G T 10: 6,840,673 (GRCm39) C345* probably null Het
Ipmk T A 10: 71,217,124 (GRCm39) F223I probably damaging Het
Itpr2 A T 6: 146,274,706 (GRCm39) N825K probably benign Het
Itprid2 A G 2: 79,475,072 (GRCm39) K344E possibly damaging Het
Kazn G A 4: 141,836,649 (GRCm39) T530I Het
Kmt2d C T 15: 98,737,737 (GRCm39) V5120M unknown Het
Krt6b T G 15: 101,587,449 (GRCm39) D215A probably benign Het
Lgals12 T C 19: 7,581,335 (GRCm39) K124R probably damaging Het
Lpar6 T A 14: 73,476,240 (GRCm39) V67D probably damaging Het
Lrch3 T C 16: 32,818,883 (GRCm39) Y661H probably damaging Het
Lrrc32 A T 7: 98,149,201 (GRCm39) Q660H probably benign Het
Lurap1l T A 4: 80,871,991 (GRCm39) H161Q probably benign Het
Map3k19 A G 1: 127,766,189 (GRCm39) I245T probably damaging Het
Mcf2l T A 8: 13,069,022 (GRCm39) *1119K probably null Het
Mertk C A 2: 128,571,313 (GRCm39) A89E possibly damaging Het
Mical3 A T 6: 121,011,074 (GRCm39) Y375N probably damaging Het
Myo15a T A 11: 60,374,309 (GRCm39) D121E Het
N4bp2l1 T A 5: 150,499,758 (GRCm39) N116I probably damaging Het
Nbeal1 T C 1: 60,233,756 (GRCm39) probably null Het
Nlrp12 A T 7: 3,289,977 (GRCm39) D178E probably benign Het
Nt5c2 C A 19: 46,878,328 (GRCm39) G444C probably damaging Het
Or10g7 T A 9: 39,905,349 (GRCm39) M81K possibly damaging Het
Or2f1b T A 6: 42,739,762 (GRCm39) Y259N probably damaging Het
Or8b48 T C 9: 38,492,764 (GRCm39) F64L probably benign Het
Pdcl2 A C 5: 76,460,359 (GRCm39) S220A possibly damaging Het
Pip5kl1 T C 2: 32,468,247 (GRCm39) S138P possibly damaging Het
Pkd1l1 A T 11: 8,866,267 (GRCm39) N979K Het
Prkcb A T 7: 122,167,450 (GRCm39) T387S possibly damaging Het
Pxdc1 A G 13: 34,821,135 (GRCm39) probably benign Het
Sbf2 C T 7: 109,913,271 (GRCm39) E1668K possibly damaging Het
Sec16a T G 2: 26,313,643 (GRCm39) T455P Het
Sec24b C A 3: 129,803,514 (GRCm39) V412F probably benign Het
Serpina3b A G 12: 104,099,145 (GRCm39) N220S probably benign Het
Sgip1 C T 4: 102,824,821 (GRCm39) Q581* probably null Het
Shf A T 2: 122,190,063 (GRCm39) I175N possibly damaging Het
Slc16a10 G A 10: 40,017,992 (GRCm39) T14M probably benign Het
Slc22a4 A T 11: 53,888,254 (GRCm39) M258K probably benign Het
Slfn8 A T 11: 82,907,618 (GRCm39) Y308* probably null Het
Slfnl1 T C 4: 120,392,451 (GRCm39) Y249H probably damaging Het
Smchd1 T C 17: 71,782,074 (GRCm39) Y29C probably damaging Het
Snai1 C A 2: 167,380,588 (GRCm39) probably null Het
Sntg1 T C 1: 8,518,289 (GRCm39) Y368C probably damaging Het
Snx33 C T 9: 56,833,151 (GRCm39) R306H probably damaging Het
Spop G A 11: 95,365,334 (GRCm39) V126M probably damaging Het
Taar3 A T 10: 23,825,715 (GRCm39) Y87F probably damaging Het
Tarm1 C A 7: 3,545,318 (GRCm39) M177I probably benign Het
Tcerg1l A G 7: 137,819,786 (GRCm39) F485L probably damaging Het
Thsd7b A T 1: 129,556,717 (GRCm39) I435F probably damaging Het
Tiam2 A G 17: 3,464,388 (GRCm39) D39G possibly damaging Het
Tigd4 T C 3: 84,501,128 (GRCm39) V15A probably benign Het
Tll2 T C 19: 41,092,268 (GRCm39) D523G probably damaging Het
Tmem117 A G 15: 94,612,776 (GRCm39) D104G probably damaging Het
Tmem132b T C 5: 125,864,555 (GRCm39) L887P probably damaging Het
Tnfrsf26 A T 7: 143,168,642 (GRCm39) V132D probably damaging Het
Tomt T A 7: 101,549,715 (GRCm39) D191V probably damaging Het
Ttc39b T C 4: 83,160,459 (GRCm39) M373V probably damaging Het
Ttn G A 2: 76,568,493 (GRCm39) P27467S possibly damaging Het
Ttn A C 2: 76,573,130 (GRCm39) V25921G probably damaging Het
Ubxn2a A C 12: 4,941,381 (GRCm39) V75G probably damaging Het
Uchl5 A T 1: 143,682,433 (GRCm39) K319N unknown Het
Ugt2b1 T C 5: 87,073,693 (GRCm39) D222G probably damaging Het
Vmn1r213 A G 13: 23,195,446 (GRCm39) I10V unknown Het
Vps13b T C 15: 35,910,973 (GRCm39) I3579T probably damaging Het
Xpo5 T A 17: 46,532,295 (GRCm39) H443Q probably benign Het
Zfp316 A G 5: 143,250,407 (GRCm39) M2T unknown Het
Zscan4-ps2 A G 7: 11,251,359 (GRCm39) T160A possibly damaging Het
Other mutations in Fam135b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Fam135b APN 15 71,322,343 (GRCm39) missense probably damaging 1.00
IGL00565:Fam135b APN 15 71,343,361 (GRCm39) missense probably benign
IGL00645:Fam135b APN 15 71,334,395 (GRCm39) missense probably damaging 1.00
IGL00686:Fam135b APN 15 71,334,168 (GRCm39) missense probably benign 0.00
IGL00857:Fam135b APN 15 71,335,465 (GRCm39) missense probably benign 0.16
IGL01443:Fam135b APN 15 71,335,213 (GRCm39) missense probably benign 0.02
IGL01690:Fam135b APN 15 71,328,784 (GRCm39) missense probably benign 0.19
IGL01920:Fam135b APN 15 71,493,885 (GRCm39) missense possibly damaging 0.94
IGL01987:Fam135b APN 15 71,333,964 (GRCm39) missense probably benign
IGL02154:Fam135b APN 15 71,320,559 (GRCm39) missense probably benign 0.12
IGL03107:Fam135b APN 15 71,335,410 (GRCm39) missense probably benign
IGL03264:Fam135b APN 15 71,334,637 (GRCm39) missense probably benign
IGL03055:Fam135b UTSW 15 71,493,883 (GRCm39) missense possibly damaging 0.51
R0010:Fam135b UTSW 15 71,493,881 (GRCm39) missense probably damaging 1.00
R0010:Fam135b UTSW 15 71,493,881 (GRCm39) missense probably damaging 1.00
R0230:Fam135b UTSW 15 71,317,886 (GRCm39) missense probably benign 0.02
R0413:Fam135b UTSW 15 71,335,670 (GRCm39) missense probably benign 0.45
R0524:Fam135b UTSW 15 71,334,133 (GRCm39) missense probably benign 0.00
R0565:Fam135b UTSW 15 71,362,686 (GRCm39) missense possibly damaging 0.88
R0628:Fam135b UTSW 15 71,320,505 (GRCm39) splice site probably benign
R1415:Fam135b UTSW 15 71,328,777 (GRCm39) missense probably damaging 0.99
R1462:Fam135b UTSW 15 71,493,845 (GRCm39) splice site probably benign
R1701:Fam135b UTSW 15 71,331,578 (GRCm39) missense probably damaging 1.00
R1797:Fam135b UTSW 15 71,324,290 (GRCm39) missense probably benign 0.41
R1807:Fam135b UTSW 15 71,335,761 (GRCm39) missense probably benign
R1835:Fam135b UTSW 15 71,362,560 (GRCm39) missense probably damaging 1.00
R1905:Fam135b UTSW 15 71,404,836 (GRCm39) missense probably damaging 1.00
R1937:Fam135b UTSW 15 71,493,863 (GRCm39) missense probably damaging 1.00
R1998:Fam135b UTSW 15 71,324,253 (GRCm39) missense probably damaging 0.98
R2076:Fam135b UTSW 15 71,350,092 (GRCm39) missense probably damaging 0.99
R2518:Fam135b UTSW 15 71,335,760 (GRCm39) missense probably benign 0.00
R3110:Fam135b UTSW 15 71,335,879 (GRCm39) missense probably benign 0.05
R3112:Fam135b UTSW 15 71,335,879 (GRCm39) missense probably benign 0.05
R3932:Fam135b UTSW 15 71,322,280 (GRCm39) missense probably benign 0.29
R4361:Fam135b UTSW 15 71,362,676 (GRCm39) missense probably damaging 1.00
R4397:Fam135b UTSW 15 71,320,525 (GRCm39) missense probably benign 0.17
R4435:Fam135b UTSW 15 71,320,588 (GRCm39) missense probably damaging 1.00
R4645:Fam135b UTSW 15 71,334,189 (GRCm39) missense probably benign
R4740:Fam135b UTSW 15 71,335,920 (GRCm39) missense probably benign 0.01
R4748:Fam135b UTSW 15 71,335,904 (GRCm39) missense probably benign 0.00
R4754:Fam135b UTSW 15 71,334,800 (GRCm39) missense probably benign 0.01
R5044:Fam135b UTSW 15 71,334,560 (GRCm39) missense probably benign 0.02
R5469:Fam135b UTSW 15 71,317,892 (GRCm39) missense probably benign 0.16
R5617:Fam135b UTSW 15 71,493,865 (GRCm39) missense probably damaging 1.00
R5642:Fam135b UTSW 15 71,333,985 (GRCm39) missense probably damaging 1.00
R5778:Fam135b UTSW 15 71,350,881 (GRCm39) missense probably damaging 1.00
R5891:Fam135b UTSW 15 71,397,652 (GRCm39) missense probably damaging 1.00
R5958:Fam135b UTSW 15 71,334,744 (GRCm39) missense
R5982:Fam135b UTSW 15 71,320,518 (GRCm39) critical splice donor site probably null
R5987:Fam135b UTSW 15 71,362,697 (GRCm39) missense probably benign 0.00
R6535:Fam135b UTSW 15 71,493,924 (GRCm39) missense probably damaging 0.99
R6734:Fam135b UTSW 15 71,334,629 (GRCm39) missense probably benign 0.02
R6887:Fam135b UTSW 15 71,335,164 (GRCm39) missense probably damaging 1.00
R7028:Fam135b UTSW 15 71,343,412 (GRCm39) missense probably damaging 1.00
R7035:Fam135b UTSW 15 71,334,102 (GRCm39) missense possibly damaging 0.77
R7097:Fam135b UTSW 15 71,493,917 (GRCm39) missense possibly damaging 0.92
R7143:Fam135b UTSW 15 71,351,000 (GRCm39) missense probably benign 0.44
R7439:Fam135b UTSW 15 71,335,529 (GRCm39) missense probably damaging 0.98
R7441:Fam135b UTSW 15 71,335,529 (GRCm39) missense probably damaging 0.98
R7545:Fam135b UTSW 15 71,322,359 (GRCm39) missense possibly damaging 0.95
R7615:Fam135b UTSW 15 71,335,172 (GRCm39) missense probably damaging 1.00
R7642:Fam135b UTSW 15 71,350,991 (GRCm39) missense possibly damaging 0.51
R7649:Fam135b UTSW 15 71,334,429 (GRCm39) missense probably benign 0.00
R7686:Fam135b UTSW 15 71,335,233 (GRCm39) missense possibly damaging 0.68
R7866:Fam135b UTSW 15 71,333,925 (GRCm39) missense probably benign 0.00
R8006:Fam135b UTSW 15 71,334,183 (GRCm39) missense probably benign 0.00
R8068:Fam135b UTSW 15 71,404,827 (GRCm39) missense probably damaging 1.00
R8167:Fam135b UTSW 15 71,404,840 (GRCm39) missense probably null 1.00
R8252:Fam135b UTSW 15 71,404,872 (GRCm39) missense probably benign 0.10
R8548:Fam135b UTSW 15 71,334,659 (GRCm39) missense probably damaging 0.99
R8833:Fam135b UTSW 15 71,334,783 (GRCm39) missense probably benign 0.04
R8955:Fam135b UTSW 15 71,334,063 (GRCm39) missense possibly damaging 0.85
R8961:Fam135b UTSW 15 71,404,812 (GRCm39) missense probably damaging 1.00
R8987:Fam135b UTSW 15 71,334,189 (GRCm39) missense probably benign 0.00
R9149:Fam135b UTSW 15 71,334,744 (GRCm39) missense
R9161:Fam135b UTSW 15 71,334,417 (GRCm39) missense possibly damaging 0.91
R9227:Fam135b UTSW 15 71,335,856 (GRCm39) missense probably benign 0.28
R9230:Fam135b UTSW 15 71,335,856 (GRCm39) missense probably benign 0.28
R9365:Fam135b UTSW 15 71,334,813 (GRCm39) missense probably benign 0.00
R9622:Fam135b UTSW 15 71,397,686 (GRCm39) missense probably damaging 0.98
R9758:Fam135b UTSW 15 71,324,199 (GRCm39) missense probably benign 0.28
R9759:Fam135b UTSW 15 71,335,689 (GRCm39) missense probably benign 0.44
T0722:Fam135b UTSW 15 71,335,734 (GRCm39) missense probably damaging 1.00
T0975:Fam135b UTSW 15 71,335,734 (GRCm39) missense probably damaging 1.00
Z1177:Fam135b UTSW 15 71,493,925 (GRCm39) start codon destroyed probably null 0.06
Predicted Primers PCR Primer
(F):5'- TGTCTTTGCCTGCACAGAAC -3'
(R):5'- GCTATAAAGACGTGTAAGCAGC -3'

Sequencing Primer
(F):5'- TTGCCTGCACAGAACTGTAG -3'
(R):5'- CTATAAAGACGTGTAAGCAGCAGAAG -3'
Posted On 2019-10-07