Incidental Mutation 'R8955:Fam135b'
ID 681967
Institutional Source Beutler Lab
Gene Symbol Fam135b
Ensembl Gene ENSMUSG00000036800
Gene Name family with sequence similarity 135, member B
Synonyms 1700010C24Rik, A830008O07Rik
MMRRC Submission 068791-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8955 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 71310800-71600282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 71334063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1044 (V1044I)
Ref Sequence ENSEMBL: ENSMUSP00000022953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022953]
AlphaFold Q9DAI6
Predicted Effect possibly damaging
Transcript: ENSMUST00000022953
AA Change: V1044I

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: V1044I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 C T 15: 64,576,554 (GRCm39) V1003I possibly damaging Het
Adgra3 T A 5: 50,118,731 (GRCm39) Y939F probably benign Het
Adra2b T C 2: 127,205,504 (GRCm39) V2A probably benign Het
Aga T A 8: 53,974,164 (GRCm39) Y296N possibly damaging Het
Apc A G 18: 34,401,370 (GRCm39) Q52R probably damaging Het
Arfgef1 A T 1: 10,270,062 (GRCm39) S362R probably benign Het
Arhgef7 C T 8: 11,808,451 (GRCm39) probably benign Het
Bmp5 A T 9: 75,805,835 (GRCm39) M446L probably damaging Het
Carmil3 C T 14: 55,733,534 (GRCm39) T350I probably damaging Het
Cd44 T A 2: 102,683,363 (GRCm39) T224S probably damaging Het
Cep112 A T 11: 108,643,260 (GRCm39) I7F possibly damaging Het
Chrna2 G A 14: 66,379,681 (GRCm39) A7T probably benign Het
Cldn16 G A 16: 26,301,270 (GRCm39) V193I probably benign Het
Clec4a3 G A 6: 122,943,479 (GRCm39) E100K possibly damaging Het
Cntln C T 4: 84,986,110 (GRCm39) T1026I possibly damaging Het
Cyp4v3 T A 8: 45,761,564 (GRCm39) I420F probably benign Het
Dcbld2 G A 16: 58,271,125 (GRCm39) A301T Het
Dnah1 A T 14: 31,007,950 (GRCm39) D2152E probably benign Het
Dpy19l4 A G 4: 11,290,195 (GRCm39) V179A probably benign Het
Dusp4 T A 8: 35,284,462 (GRCm39) I259N probably damaging Het
Enpp1 T A 10: 24,544,926 (GRCm39) I318F probably benign Het
Entpd6 T C 2: 150,595,005 (GRCm39) V15A possibly damaging Het
Epb41l1 C G 2: 156,363,923 (GRCm39) Q811E probably benign Het
Epb41l5 T C 1: 119,570,292 (GRCm39) H32R probably damaging Het
Fat4 A T 3: 39,037,778 (GRCm39) H3810L probably benign Het
Fbxw28 T A 9: 109,167,857 (GRCm39) probably null Het
Flnb T G 14: 7,892,874 (GRCm38) V648G probably damaging Het
Flnb T A 14: 7,904,688 (GRCm38) Y1030* probably null Het
Fndc3a T C 14: 72,794,410 (GRCm39) T787A probably benign Het
Gli2 T A 1: 118,783,187 (GRCm39) H106L probably damaging Het
Gm10283 T A 8: 60,954,390 (GRCm39) probably null Het
Gm3336 C T 8: 71,174,545 (GRCm39) R67* probably null Het
Gsr T G 8: 34,183,936 (GRCm39) I399M possibly damaging Het
Gtf2ird2 T A 5: 134,245,596 (GRCm39) M618K probably damaging Het
Gtf3c3 T A 1: 54,462,722 (GRCm39) D347V probably benign Het
Hspa12a T C 19: 58,788,058 (GRCm39) Y588C probably damaging Het
Il20ra A G 10: 19,635,160 (GRCm39) E467G possibly damaging Het
Inf2 A G 12: 112,576,998 (GRCm39) I991V unknown Het
Irag2 A T 6: 145,117,390 (GRCm39) M376L probably benign Het
Irx6 T C 8: 93,405,040 (GRCm39) C303R probably damaging Het
Kcnmb4 T A 10: 116,309,381 (GRCm39) K16* probably null Het
Kirrel3 T C 9: 34,855,738 (GRCm39) L86P probably damaging Het
Lipo5 A C 19: 33,450,530 (GRCm39) F21V Het
Lrrc31 T A 3: 30,733,267 (GRCm39) R482S probably benign Het
Lrrc3b C T 14: 15,358,159 (GRCm38) C149Y probably damaging Het
Lrrk1 A G 7: 65,919,573 (GRCm39) M446T probably benign Het
Macroh2a2 A T 10: 61,593,610 (GRCm39) I22N probably damaging Het
Mettl14 C T 3: 123,167,693 (GRCm39) D222N probably benign Het
Mfsd4b3-ps G A 10: 39,824,072 (GRCm39) H63Y probably benign Het
Myo16 T C 8: 10,426,175 (GRCm39) W311R probably damaging Het
Nccrp1 A T 7: 28,245,628 (GRCm39) N151K probably benign Het
Obsl1 T C 1: 75,480,493 (GRCm39) D377G probably damaging Het
Or5b97 T A 19: 12,878,578 (GRCm39) T189S probably benign Het
Or5p80 T A 7: 108,229,506 (GRCm39) C102* probably null Het
Or7c19 T A 8: 85,957,913 (GRCm39) I263N probably benign Het
Or7c70 G T 10: 78,683,576 (GRCm39) P58T probably damaging Het
Pigb T C 9: 72,945,983 (GRCm39) N63S probably damaging Het
Plch2 T C 4: 155,077,023 (GRCm39) E577G probably benign Het
Prkab2 T C 3: 97,573,943 (GRCm39) V194A probably benign Het
Psd3 T C 8: 68,416,461 (GRCm39) I479V probably benign Het
Ralgapb C A 2: 158,279,264 (GRCm39) P117T probably benign Het
Ralgapb C G 2: 158,337,389 (GRCm39) T1116R probably damaging Het
Rpap2 T A 5: 107,768,361 (GRCm39) S400T possibly damaging Het
Rpgrip1l C A 8: 92,007,456 (GRCm39) W378L possibly damaging Het
Rps20 T A 4: 3,834,617 (GRCm39) M82L probably benign Het
Rps5 T C 7: 12,659,440 (GRCm39) M77T possibly damaging Het
Scaf11 A G 15: 96,318,371 (GRCm39) S398P probably damaging Het
Sdf2 T A 11: 78,145,763 (GRCm39) D153E probably benign Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Slc12a9 T C 5: 137,329,270 (GRCm39) N128S probably damaging Het
Slc25a32 C A 15: 38,960,946 (GRCm39) G246C probably damaging Het
Slc38a4 C T 15: 96,914,662 (GRCm39) A64T probably benign Het
Slit3 T C 11: 35,589,207 (GRCm39) V1254A probably damaging Het
Slx4 T C 16: 3,808,111 (GRCm39) K481R probably benign Het
Tcea1 A G 1: 4,959,732 (GRCm39) T136A probably benign Het
Thra A G 11: 98,644,449 (GRCm39) D13G possibly damaging Het
Tmed9 G A 13: 55,744,775 (GRCm39) S227N probably benign Het
Trim80 C A 11: 115,331,538 (GRCm39) T20K probably benign Het
Trmt61a G T 12: 111,649,256 (GRCm39) V276L probably benign Het
Trpc4ap T C 2: 155,508,171 (GRCm39) D160G possibly damaging Het
Ubr5 C T 15: 38,029,825 (GRCm39) E467K Het
Vars2 C A 17: 35,972,541 (GRCm39) G26W probably damaging Het
Vmn1r226 G T 17: 20,908,287 (GRCm39) R173L possibly damaging Het
Vmn1r29 G T 6: 58,284,284 (GRCm39) M1I probably null Het
Vmn2r3 G T 3: 64,168,803 (GRCm39) P578Q possibly damaging Het
Vmn2r57 A T 7: 41,049,571 (GRCm39) I726N possibly damaging Het
Zfp39 A T 11: 58,780,946 (GRCm39) Y605* 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
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
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'- ACCTCCATGTTAAATACTAGGCATG -3'
(R):5'- ACACTATTGCCTCCCAAGTG -3'

Sequencing Primer
(F):5'- TGTTAAATACTAGGCATGAAGCTGAG -3'
(R):5'- ATTGCCTCCCAAGTGTCACG -3'
Posted On 2021-08-31