Incidental Mutation 'R7642:Fam135b'
ID 590310
Institutional Source Beutler Lab
Gene Symbol Fam135b
Ensembl Gene ENSMUSG00000036800
Gene Name family with sequence similarity 135, member B
Synonyms 1700010C24Rik, A830008O07Rik
MMRRC Submission 045645-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7642 (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 G at 71350991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 295 (N295T)
Ref Sequence ENSEMBL: ENSMUSP00000022953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022953]
AlphaFold Q9DAI6
Predicted Effect possibly damaging
Transcript: ENSMUST00000022953
AA Change: N295T

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: N295T

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 0.0720 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3b1 T C 13: 94,613,540 (GRCm39) S680P probably benign Het
Carmil1 T C 13: 24,251,189 (GRCm39) T844A probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Clca4a A T 3: 144,659,512 (GRCm39) D781E probably benign Het
Col10a1 A G 10: 34,271,638 (GRCm39) M537V probably benign Het
Col5a2 A G 1: 45,415,248 (GRCm39) M1497T probably benign Het
Csmd1 T A 8: 16,135,192 (GRCm39) I1655F probably damaging Het
Cts3 A G 13: 61,716,589 (GRCm39) S16P probably benign Het
Cyp2c67 T C 19: 39,604,084 (GRCm39) Y424C probably damaging Het
Dip2c T C 13: 9,672,741 (GRCm39) probably null Het
Dnah5 T C 15: 28,248,125 (GRCm39) probably null Het
Dpp4 A G 2: 62,190,627 (GRCm39) probably null Het
Fign A G 2: 63,810,916 (GRCm39) V118A probably benign Het
Gpr108 A T 17: 57,543,228 (GRCm39) Y480* probably null Het
Ky T C 9: 102,419,469 (GRCm39) V492A probably benign Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Lrrc30 C T 17: 67,939,472 (GRCm39) G36E probably damaging Het
Map2 T C 1: 66,452,466 (GRCm39) V452A probably benign Het
Mks1 C T 11: 87,747,666 (GRCm39) T183M possibly damaging Het
Mpg G A 11: 32,179,517 (GRCm39) probably null Het
Nat10 A G 2: 103,557,131 (GRCm39) L841P possibly damaging Het
Nbeal1 A G 1: 60,316,386 (GRCm39) E1863G probably benign Het
Neurl1b C G 17: 26,657,720 (GRCm39) H219Q probably benign Het
Nr2e3 T A 9: 59,854,671 (GRCm39) I292F possibly damaging Het
Nxn T C 11: 76,163,285 (GRCm39) Y246C probably damaging Het
Or1o3 A T 17: 37,573,964 (GRCm39) M197K probably benign Het
Or4f4b T C 2: 111,313,823 (GRCm39) F44S probably damaging Het
Or5ac15 T G 16: 58,940,011 (GRCm39) T141P possibly damaging Het
Or5h26 A G 16: 58,988,080 (GRCm39) V142A probably benign Het
Or8k17 A T 2: 86,066,660 (GRCm39) L166* probably null Het
Pcdha5 T A 18: 37,093,544 (GRCm39) F18I probably benign Het
Pcdhb17 A G 18: 37,618,779 (GRCm39) K190E probably damaging Het
Peg3 GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC 7: 6,712,167 (GRCm39) probably benign Het
Ppm1g G T 5: 31,362,447 (GRCm39) Y284* probably null Het
Rp1 A G 1: 4,218,054 (GRCm39) V1026A unknown Het
Scap C T 9: 110,203,081 (GRCm39) R252C probably damaging Het
Scn9a C A 2: 66,366,580 (GRCm39) K734N probably benign Het
Sema5a C T 15: 32,682,471 (GRCm39) S955F probably damaging Het
Serpinb10 A G 1: 107,456,831 (GRCm39) probably null Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Sh2d5 A G 4: 137,986,467 (GRCm39) T397A probably benign Het
Slc22a8 T C 19: 8,587,409 (GRCm39) F490L probably benign Het
Tbc1d19 A T 5: 54,014,260 (GRCm39) Y296F probably damaging Het
Tmppe T C 9: 114,233,862 (GRCm39) S54P possibly damaging Het
Vmn1r123 A T 7: 20,896,795 (GRCm39) N229I probably benign Het
Wdr36 T A 18: 32,987,624 (GRCm39) probably null Het
Wdr47 T A 3: 108,550,480 (GRCm39) M835K possibly damaging Het
Wscd2 A T 5: 113,715,475 (GRCm39) K438N possibly damaging Het
Xrcc6 T A 15: 81,900,678 (GRCm39) probably null Het
Xrn1 T A 9: 95,903,906 (GRCm39) F1148I possibly damaging Het
Zmynd8 T C 2: 165,654,346 (GRCm39) D722G probably 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
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'- ATACAGTCAGAGAGTTTGCAGC -3'
(R):5'- TATCTCCAACATTCAAAAGGACAGG -3'

Sequencing Primer
(F):5'- CAGTCAGAGAGTTTGCAGCATTTTAC -3'
(R):5'- CATTCAAAAGGACAGGATTTCACAG -3'
Posted On 2019-10-24