Incidental Mutation 'R9161:Fam135b'
ID 695720
Institutional Source Beutler Lab
Gene Symbol Fam135b
Ensembl Gene ENSMUSG00000036800
Gene Name family with sequence similarity 135, member B
Synonyms 1700010C24Rik, A830008O07Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9161 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 71310800-71600282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71334417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 926 (R926W)
Ref Sequence ENSEMBL: ENSMUSP00000022953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022953]
AlphaFold Q9DAI6
Predicted Effect possibly damaging
Transcript: ENSMUST00000022953
AA Change: R926W

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: R926W

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 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T A 8: 13,272,270 (GRCm39) N1496I probably damaging Het
Arglu1 T C 8: 8,733,941 (GRCm39) E125G possibly damaging Het
Atad2 A T 15: 57,989,185 (GRCm39) I225N possibly damaging Het
Atrn T C 2: 130,777,470 (GRCm39) F173S probably damaging Het
BC024063 T A 10: 81,945,044 (GRCm39) H221Q probably benign Het
Bnip5 T A 17: 29,128,387 (GRCm39) K175N probably damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cdh24 A T 14: 54,876,097 (GRCm39) Y182N probably damaging Het
Cdkl4 A G 17: 80,851,120 (GRCm39) L194P probably damaging Het
Cep152 T A 2: 125,408,574 (GRCm39) R1327* probably null Het
Ckap5 A T 2: 91,445,653 (GRCm39) M1797L probably benign Het
Clasp1 A T 1: 118,474,651 (GRCm39) N895I probably damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Cotl1 G T 8: 120,549,456 (GRCm39) D85E probably benign Het
Cryba4 A C 5: 112,396,039 (GRCm39) probably null Het
Dync1h1 A G 12: 110,625,023 (GRCm39) K3817E probably benign Het
Ehd3 A T 17: 74,134,480 (GRCm39) R280* probably null Het
Erp29 T C 5: 121,583,146 (GRCm39) E260G possibly damaging Het
Fbn1 T C 2: 125,192,270 (GRCm39) N1413S probably damaging Het
Fbxw8 A G 5: 118,251,727 (GRCm39) V262A probably damaging Het
Gabrb1 A G 5: 72,187,199 (GRCm39) D164G probably damaging Het
Galnt15 T A 14: 31,780,116 (GRCm39) I471N probably damaging Het
Get1 A T 16: 95,953,139 (GRCm39) R77W probably damaging Het
Gon4l A G 3: 88,808,955 (GRCm39) N1733S probably damaging Het
Hmcn2 A G 2: 31,242,758 (GRCm39) T562A probably benign Het
Inha A G 1: 75,484,144 (GRCm39) I85V probably damaging Het
Kif28 A C 1: 179,526,244 (GRCm39) V897G probably benign Het
Map1s G A 8: 71,366,250 (GRCm39) R385H probably damaging Het
Map2 T C 1: 66,477,503 (GRCm39) V1750A possibly damaging Het
Mbd1 C T 18: 74,407,792 (GRCm39) P273L probably benign Het
Megf6 A G 4: 154,352,172 (GRCm39) T1226A probably benign Het
Muc5ac T A 7: 141,353,026 (GRCm39) C791S possibly damaging Het
Nlrc5 A C 8: 95,213,274 (GRCm39) H883P probably damaging Het
Nrip3 C T 7: 109,365,777 (GRCm39) R91H probably damaging Het
Or10w1 G A 19: 13,632,038 (GRCm39) V82M probably damaging Het
Or12j3 C T 7: 139,952,989 (GRCm39) C178Y probably damaging Het
Or51a10 C A 7: 103,699,725 (GRCm39) probably benign Het
Or8g21 A T 9: 38,905,816 (GRCm39) I305K possibly damaging Het
Or8k16 A G 2: 85,520,231 (GRCm39) T153A probably benign Het
Pdgfrb T G 18: 61,197,053 (GRCm39) L163R probably damaging Het
Pik3ip1 G T 11: 3,281,945 (GRCm39) R34L possibly damaging Het
Pip4k2b A G 11: 97,615,245 (GRCm39) F205S possibly damaging Het
Pttg1ip A C 10: 77,425,487 (GRCm39) N60T probably benign Het
Rab3ip C T 10: 116,750,066 (GRCm39) E356K probably damaging Het
Rai1 A G 11: 60,076,682 (GRCm39) N249D probably benign Het
Rd3l T C 12: 111,946,753 (GRCm39) K8E probably damaging Het
Rnf32 A G 5: 29,408,058 (GRCm39) K96E probably damaging Het
Rsf1 GGCG GGCGACCGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Slc4a1ap A G 5: 31,685,474 (GRCm39) K251E Het
Spink5 T A 18: 44,147,986 (GRCm39) N875K probably damaging Het
Taf6 G T 5: 138,178,160 (GRCm39) A447D probably benign Het
Tbxas1 A T 6: 38,999,989 (GRCm39) I259F probably damaging Het
Tcap G T 11: 98,275,256 (GRCm39) R130L probably damaging Het
Tyms T C 5: 30,266,040 (GRCm39) E293G Het
Vmn1r20 C A 6: 57,408,759 (GRCm39) F28L probably benign Het
Vmn2r120 A T 17: 57,831,864 (GRCm39) D308E Het
Vmn2r69 T A 7: 85,056,177 (GRCm39) I654F possibly damaging Het
Zfp990 G T 4: 145,261,509 (GRCm39) V52L 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
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
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'- GCAATAGTGTGAGTCACAGTGG -3'
(R):5'- AACCCTGTTGTCTGGATGGC -3'

Sequencing Primer
(F):5'- TGTGAGTCACAGTGGGGCAC -3'
(R):5'- TGGCTGAGACCCCACTACATG -3'
Posted On 2022-01-20