Incidental Mutation 'R8006:Fam135b'
ID 616648
Institutional Source Beutler Lab
Gene Symbol Fam135b
Ensembl Gene ENSMUSG00000036800
Gene Name family with sequence similarity 135, member B
Synonyms 1700010C24Rik, A830008O07Rik
MMRRC Submission 046046-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8006 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 71310800-71600282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71334183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1004 (T1004A)
Ref Sequence ENSEMBL: ENSMUSP00000022953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022953]
AlphaFold Q9DAI6
Predicted Effect probably benign
Transcript: ENSMUST00000022953
AA Change: T1004A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: T1004A

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 T A 8: 41,248,944 (GRCm39) H351Q probably benign Het
Ahnak T C 19: 8,989,447 (GRCm39) V3577A possibly damaging Het
Akap13 T C 7: 75,229,444 (GRCm39) S126P probably damaging Het
Akip1 A G 7: 109,303,199 (GRCm39) D14G probably damaging Het
Ankhd1 A G 18: 36,781,772 (GRCm39) R287G Het
Ankrd13a A C 5: 114,942,484 (GRCm39) *589S probably null Het
Ankrd34c T C 9: 89,611,889 (GRCm39) I151V probably damaging Het
Ano5 T A 7: 51,243,518 (GRCm39) D880E probably benign Het
Arl3 A C 19: 46,546,813 (GRCm39) L4R probably damaging Het
Ate1 T A 7: 130,069,118 (GRCm39) Q340L probably damaging Het
Ccdc38 A T 10: 93,391,448 (GRCm39) probably null Het
Celsr3 C T 9: 108,706,306 (GRCm39) P930S probably damaging Het
Cfhr4 A G 1: 139,664,590 (GRCm39) Y490H probably damaging Het
Cox18 C T 5: 90,371,672 (GRCm39) V43M probably damaging Het
Ctnna3 A G 10: 63,417,790 (GRCm39) K176R probably benign Het
Fam227a A G 15: 79,518,299 (GRCm39) I335T possibly damaging Het
Gm14496 A G 2: 181,637,669 (GRCm39) I248V probably benign Het
Gm6871 T C 7: 41,195,106 (GRCm39) T544A probably benign Het
Grm6 A T 11: 50,755,484 (GRCm39) *872L probably null Het
Herc1 T A 9: 66,352,842 (GRCm39) Y2109* probably null Het
Hsd11b2 T A 8: 106,245,735 (GRCm39) V80E possibly damaging Het
Itgb3 T C 11: 104,556,322 (GRCm39) V721A possibly damaging Het
Jade1 A T 3: 41,568,124 (GRCm39) I731L probably benign Het
Khnyn G A 14: 56,125,047 (GRCm39) V434I probably benign Het
Lrp1 A G 10: 127,425,488 (GRCm39) L714P probably damaging Het
Lrrc41 G A 4: 115,952,085 (GRCm39) E585K possibly damaging Het
Lrrfip1 A G 1: 91,004,673 (GRCm39) Y70C probably damaging Het
Mex3a T A 3: 88,444,393 (GRCm39) C490S probably damaging Het
Mmp27 C T 9: 7,578,985 (GRCm39) R387C probably damaging Het
Mro A T 18: 74,010,577 (GRCm39) D219V possibly damaging Het
Myot T A 18: 44,487,904 (GRCm39) L407Q probably damaging Het
Nppa T A 4: 148,085,638 (GRCm39) W82R probably damaging Het
Or10g6 T G 9: 39,933,770 (GRCm39) L27R probably damaging Het
Or52a20 T A 7: 103,366,532 (GRCm39) C244S probably damaging Het
Or5ak24 T C 2: 85,260,318 (GRCm39) N285S probably damaging Het
Phip T A 9: 82,772,179 (GRCm39) I1123L possibly damaging Het
Ppip5k2 A G 1: 97,661,831 (GRCm39) I695T probably benign Het
Ppp1r10 A T 17: 36,239,158 (GRCm39) M347L probably benign Het
Reln A T 5: 22,104,082 (GRCm39) C3296* probably null Het
Semp2l1 T A 1: 32,586,005 (GRCm39) probably benign Het
Slf2 T A 19: 44,930,756 (GRCm39) L611Q probably damaging Het
Spire1 G A 18: 67,634,251 (GRCm39) Q396* probably null Het
Taf2 A G 15: 54,912,097 (GRCm39) F537L probably damaging Het
Tbc1d16 C T 11: 119,046,898 (GRCm39) E451K probably damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tmem267 T A 13: 120,070,774 (GRCm39) V143E probably damaging Het
Tyw1 C T 5: 130,296,913 (GRCm39) R177W possibly damaging Het
Vcp A T 4: 42,985,993 (GRCm39) H340Q probably benign Het
Vmn2r14 A T 5: 109,368,324 (GRCm39) L223M probably benign Het
Wnk4 A G 11: 101,159,182 (GRCm39) D533G probably benign Het
Wwp1 A T 4: 19,650,174 (GRCm39) C331S probably benign Het
Zik1 A T 7: 10,224,100 (GRCm39) C332* 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
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'- CAGCTTGCTGGAGTAGGTAG -3'
(R):5'- CAGTTGTTCACCAGCTGTTG -3'

Sequencing Primer
(F):5'- CTTGCTGGAGTAGGTAGAAACAAC -3'
(R):5'- GAAGCTGTCAACCTGAATTCTACAG -3'
Posted On 2020-01-23