Incidental Mutation 'T0722:Fam135b'
ID 262129
Institutional Source Beutler Lab
Gene Symbol Fam135b
Ensembl Gene ENSMUSG00000036800
Gene Name family with sequence similarity 135, member B
Synonyms 1700010C24Rik, A830008O07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # T0722 (G3) of strain 711
Quality Score 172
Status Not validated
Chromosome 15
Chromosomal Location 71310800-71600282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 71335734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 487 (T487P)
Ref Sequence ENSEMBL: ENSMUSP00000022953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022953]
AlphaFold Q9DAI6
Predicted Effect probably damaging
Transcript: ENSMUST00000022953
AA Change: T487P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: T487P

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: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 95% (42/44)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A G 12: 113,453,197 (GRCm39) T5A possibly damaging Het
Adam6b T A 12: 113,454,888 (GRCm39) D568E probably benign Het
Ago3 C T 4: 126,298,056 (GRCm39) V155I probably benign Het
Ago3 G A 4: 126,298,103 (GRCm39) A139V probably benign Het
Ago3 C T 4: 126,298,098 (GRCm39) A141T probably benign Het
Ago3 T G 4: 126,298,089 (GRCm39) T144P probably benign Het
Ahdc1 ACCTCCT ACCTCCTCCT 4: 132,790,065 (GRCm39) probably benign Het
Atp6v1g3 T A 1: 138,201,591 (GRCm39) probably benign Het
Azin2 A G 4: 128,839,927 (GRCm39) Y222H probably benign Het
Bicd2 C A 13: 49,533,127 (GRCm39) P571Q probably benign Het
Camta2 A G 11: 70,574,831 (GRCm39) I75T probably damaging Het
Casp1 A T 9: 5,299,851 (GRCm39) H108L probably benign Het
Cdk5r1 G T 11: 80,368,707 (GRCm39) V125F probably benign Het
Cherp TTGGACCTGGACCTGGACCTGGACCTGGA TTGGACCTGGACCTGGACCTGGA 8: 73,215,878 (GRCm39) probably benign Het
Cngb1 A G 8: 96,023,278 (GRCm39) M240T probably benign Het
Cngb1 G A 8: 96,030,342 (GRCm39) probably benign Het
Cngb1 T C 8: 96,030,324 (GRCm39) probably benign Het
Cngb1 G T 8: 96,024,447 (GRCm39) Q205K probably damaging Het
Cog8 G T 8: 107,775,625 (GRCm39) L580I probably benign Het
Copa A G 1: 171,939,515 (GRCm39) E593G possibly damaging Het
Ctrc T TA 4: 141,572,507 (GRCm39) probably null Het
Cwf19l2 T C 9: 3,456,755 (GRCm39) F696S probably benign Het
Ddi2 G A 4: 141,440,784 (GRCm39) probably benign Het
Eml5 T C 12: 98,807,841 (GRCm39) D984G probably null Het
Fstl3 A G 10: 79,615,997 (GRCm39) Y161C probably damaging Het
Gja4 G C 4: 127,206,024 (GRCm39) H246Q probably benign Het
Gm8186 C T 17: 26,318,101 (GRCm39) R32Q probably benign Het
Jakmip1 C A 5: 37,276,247 (GRCm39) A519D probably damaging Het
Jcad G T 18: 4,675,531 (GRCm39) A1098S probably benign Het
Klhl14 T C 18: 21,691,192 (GRCm39) Y446C probably damaging Het
Lims1 A G 10: 58,254,277 (GRCm39) N344D probably benign Het
Marco A T 1: 120,402,441 (GRCm39) W502R probably damaging Het
Mmp13 G T 9: 7,280,857 (GRCm39) M413I possibly damaging Het
Mmp25 G A 17: 23,850,192 (GRCm39) A456V possibly damaging Het
Msi2 A T 11: 88,285,423 (GRCm39) M207K probably damaging Het
Myh8 G A 11: 67,195,262 (GRCm39) R1692Q probably benign Het
Nbas A G 12: 13,402,809 (GRCm39) I788V probably benign Het
Nup188 A G 2: 30,212,693 (GRCm39) D632G probably damaging Het
Opa1 T C 16: 29,429,748 (GRCm39) probably null Het
Or12k7 T G 2: 36,958,449 (GRCm39) L44R probably damaging Het
Or1n2 T C 2: 36,797,582 (GRCm39) V208A probably benign Het
Or4c114 A G 2: 88,905,303 (GRCm39) V44A probably benign Het
Or5w17 T A 2: 87,583,467 (GRCm39) Y290F probably damaging Het
Pabpc1l G A 2: 163,884,340 (GRCm39) G359D possibly damaging Het
Plekhm2 TTCCTCCTCCT TTCCTCCT 4: 141,359,292 (GRCm39) probably benign Het
Pomgnt1 C T 4: 115,994,624 (GRCm39) probably benign Het
Psma5-ps A G 10: 85,149,457 (GRCm39) noncoding transcript Het
Qser1 A G 2: 104,617,177 (GRCm39) C1122R possibly damaging Het
Rfx8 A G 1: 39,722,772 (GRCm39) S282P probably damaging Het
Sec14l2 C T 11: 4,053,673 (GRCm39) probably null Het
Sim2 C A 16: 93,910,281 (GRCm39) H228N probably benign Het
Slc15a2 A G 16: 36,772,445 (GRCm38) M179T probably benign Het
Slc30a6 T A 17: 74,719,319 (GRCm39) probably null Het
Smarcc1 G A 9: 110,035,153 (GRCm39) E859K possibly damaging Het
Snx1 CTT CTTGTT 9: 66,012,209 (GRCm39) probably benign Het
Spen A G 4: 141,201,664 (GRCm39) V2321A probably benign Het
Spta1 A G 1: 174,018,632 (GRCm39) probably benign Het
Sytl1 C A 4: 132,984,162 (GRCm39) probably benign Het
Sytl1 A G 4: 132,984,164 (GRCm39) probably benign Het
Tent4a G A 13: 69,655,074 (GRCm39) R224* probably null Het
Terf2 T C 8: 107,803,306 (GRCm39) K425E probably benign Het
Tmem26 A G 10: 68,614,548 (GRCm39) E321G probably benign Het
Toe1 T C 4: 116,663,290 (GRCm39) I62M probably benign Het
Uck2 A T 1: 167,062,280 (GRCm39) D149E probably benign Het
Wnt5a G A 14: 28,233,882 (GRCm39) A17T probably benign Het
Yif1b T C 7: 28,938,038 (GRCm39) probably null Het
Zbtb8a T C 4: 129,254,005 (GRCm39) H163R probably benign Het
Zbtb8a GG GGATG 4: 129,253,812 (GRCm39) probably benign Het
Zkscan4 AGAGGAG AGAG 13: 21,663,370 (GRCm39) probably benign Het
Zmym1 A C 4: 126,943,466 (GRCm39) H307Q probably benign Het
Zmym1 C T 4: 126,941,740 (GRCm39) D785N probably benign Het
Zmym1 C T 4: 126,942,043 (GRCm39) V684I probably benign 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
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
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
Posted On 2015-02-04