Incidental Mutation 'R0524:Fam135b'
ID 48805
Institutional Source Beutler Lab
Gene Symbol Fam135b
Ensembl Gene ENSMUSG00000036800
Gene Name family with sequence similarity 135, member B
Synonyms 1700010C24Rik, A830008O07Rik
MMRRC Submission 038717-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0524 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 71310800-71600282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71334133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1020 (D1020E)
Ref Sequence ENSEMBL: ENSMUSP00000022953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022953]
AlphaFold Q9DAI6
Predicted Effect probably benign
Transcript: ENSMUST00000022953
AA Change: D1020E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: D1020E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229634
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 96.4%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd3 CGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGA 1: 180,574,624 (GRCm39) probably benign Het
Adamts16 T C 13: 70,949,013 (GRCm39) E216G probably benign Het
Aoc3 C A 11: 101,228,337 (GRCm39) P715T probably damaging Het
Bnipl T C 3: 95,157,140 (GRCm39) D33G probably benign Het
Celsr2 T C 3: 108,308,903 (GRCm39) H1701R probably damaging Het
Clca3b T A 3: 144,531,082 (GRCm39) H756L probably benign Het
Clca4a A G 3: 144,675,154 (GRCm39) W159R probably damaging Het
Ddx49 A T 8: 70,749,574 (GRCm39) I252N probably damaging Het
Duox2 T C 2: 122,112,317 (GRCm39) T1290A possibly damaging Het
Fam111a T A 19: 12,565,412 (GRCm39) I431K probably damaging Het
Flii A G 11: 60,610,887 (GRCm39) V514A probably damaging Het
Frmpd1 A G 4: 45,283,774 (GRCm39) D865G probably benign Het
Frmpd1 G A 4: 45,256,902 (GRCm39) V157M probably damaging Het
Gsr G A 8: 34,159,208 (GRCm39) probably null Het
H1f11-ps T A 19: 47,158,933 (GRCm39) K214M unknown Het
Hps3 A T 3: 20,066,940 (GRCm39) V542E probably damaging Het
Kcnj5 A G 9: 32,234,270 (GRCm39) I15T probably benign Het
Kif2b T C 11: 91,466,550 (GRCm39) R578G probably benign Het
Lamb2 A G 9: 108,361,571 (GRCm39) R676G possibly damaging Het
Mrpl40 A G 16: 18,692,302 (GRCm39) F94S possibly damaging Het
Myo7b C T 18: 32,146,477 (GRCm39) V103M possibly damaging Het
Nmt2 T A 2: 3,306,474 (GRCm39) W69R probably benign Het
Nsd3 C A 8: 26,190,605 (GRCm39) Q1130K possibly damaging Het
Olfml1 T C 7: 107,189,384 (GRCm39) S150P probably damaging Het
Or2g1 A T 17: 38,106,496 (GRCm39) K54* probably null Het
Or5b116 A G 19: 13,423,228 (GRCm39) N284S probably damaging Het
Pask A T 1: 93,238,556 (GRCm39) W1310R probably damaging Het
Pcdh18 T C 3: 49,710,091 (GRCm39) Q408R probably damaging Het
Pfkm A G 15: 98,029,488 (GRCm39) I700V probably benign Het
Pias1 A G 9: 62,859,460 (GRCm39) V16A probably damaging Het
Pnpla8 C T 12: 44,330,401 (GRCm39) Q318* probably null Het
Ppp1cc C T 5: 122,310,833 (GRCm39) R142* probably null Het
Pygl T A 12: 70,254,498 (GRCm39) N149I probably damaging Het
Rapgef6 T A 11: 54,581,110 (GRCm39) S1285T probably benign Het
Rdh13 A C 7: 4,447,296 (GRCm39) C10W probably damaging Het
Rgr A T 14: 36,760,252 (GRCm39) C273S probably benign Het
Ripk4 G T 16: 97,556,487 (GRCm39) Y22* probably null Het
Slc34a2 G A 5: 53,222,215 (GRCm39) W302* probably null Het
Smarce1 G A 11: 99,104,888 (GRCm39) T263M probably damaging Het
Sypl1 C T 12: 33,017,564 (GRCm39) P94L possibly damaging Het
Tet3 A G 6: 83,356,924 (GRCm39) I878T probably damaging Het
Tmem232 A G 17: 65,792,937 (GRCm39) S87P probably damaging Het
Tmem260 A G 14: 48,709,935 (GRCm39) T163A probably benign Het
Ttn T C 2: 76,555,796 (GRCm39) Y30403C probably damaging Het
Ubash3b A T 9: 40,927,904 (GRCm39) M468K probably benign Het
Ulk4 A G 9: 121,081,717 (GRCm39) probably null Het
Vmn1r72 A G 7: 11,403,719 (GRCm39) F243S probably benign Het
Wrap73 A G 4: 154,229,764 (GRCm39) Y45C probably damaging Het
Zfp704 T C 3: 9,674,424 (GRCm39) D119G unknown Het
Zfp719 A G 7: 43,238,677 (GRCm39) probably null 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
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
R7414:Fam135b UTSW 15 71,350,105 (GRCm39) missense probably damaging 0.97
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'- CCAGCTTGCTGGAGTAGGTAGAAAC -3'
(R):5'- TGCGTGCTCTCCAATAACAGCATC -3'

Sequencing Primer
(F):5'- CTGGAGTAGGTAGAAACAACGC -3'
(R):5'- AGCTGTTGAAGCTGTCAACC -3'
Posted On 2013-06-12