Incidental Mutation 'R4645:Fam135b'
ID 350188
Institutional Source Beutler Lab
Gene Symbol Fam135b
Ensembl Gene ENSMUSG00000036800
Gene Name family with sequence similarity 135, member B
Synonyms 1700010C24Rik, A830008O07Rik
MMRRC Submission 041906-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4645 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 71310800-71600282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71334189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1002 (T1002A)
Ref Sequence ENSEMBL: ENSMUSP00000022953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022953]
AlphaFold Q9DAI6
Predicted Effect probably benign
Transcript: ENSMUST00000022953
AA Change: T1002A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: T1002A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,635,700 (GRCm39) E101G probably damaging Het
Adgrf5 A G 17: 43,748,416 (GRCm39) E29G probably damaging Het
Agfg2 T A 5: 137,682,854 (GRCm39) probably benign Het
Ap4b1 A G 3: 103,728,765 (GRCm39) S468G probably benign Het
AY702103 G T 17: 50,546,941 (GRCm39) noncoding transcript Het
Ccdc14 T C 16: 34,542,110 (GRCm39) L536S probably damaging Het
Ccr9 G T 9: 123,608,658 (GRCm39) M101I probably benign Het
Celsr1 A T 15: 85,800,957 (GRCm39) V2496E probably benign Het
Celsr2 C A 3: 108,303,285 (GRCm39) G2486V probably damaging Het
Cntnap3 A G 13: 64,926,602 (GRCm39) probably null Het
Erlin1 T C 19: 44,057,759 (GRCm39) Y22C probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Glud1 T C 14: 34,033,063 (GRCm39) V70A probably damaging Het
Hdlbp A G 1: 93,349,842 (GRCm39) probably benign Het
Immt T C 6: 71,833,923 (GRCm39) L184P probably damaging Het
Iqsec1 T G 6: 90,644,995 (GRCm39) K983T probably damaging Het
Klhl6 A T 16: 19,765,897 (GRCm39) N568K probably damaging Het
Lbhd1 T G 19: 8,861,452 (GRCm39) probably benign Het
Lrit2 C T 14: 36,794,432 (GRCm39) R499C probably benign Het
Lrp6 T C 6: 134,461,213 (GRCm39) D748G probably damaging Het
Lrriq4 A G 3: 30,704,892 (GRCm39) K292E probably benign Het
Ly96 G T 1: 16,761,940 (GRCm39) E49* probably null Het
Lztr1 C T 16: 17,341,955 (GRCm39) probably benign Het
Mmp12 A G 9: 7,347,515 (GRCm39) M31V probably benign Het
Mok A T 12: 110,774,873 (GRCm39) probably benign Het
Mpi T C 9: 57,458,040 (GRCm39) H54R probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Or4c101 T C 2: 88,390,722 (GRCm39) I292T probably damaging Het
Pomt1 G T 2: 32,132,888 (GRCm39) probably benign Het
Ptpn20 G A 14: 33,353,169 (GRCm39) V303I probably benign Het
Pyroxd1 C G 6: 142,300,467 (GRCm39) S199* probably null Het
Shank2 A G 7: 143,964,159 (GRCm39) K799R possibly damaging Het
Sim1 A T 10: 50,860,093 (GRCm39) T652S probably benign Het
Slc8a2 C T 7: 15,868,164 (GRCm39) T132I probably damaging Het
Spaca6 A T 17: 18,056,307 (GRCm39) probably benign Het
Sympk G T 7: 18,777,385 (GRCm39) R545L possibly damaging Het
Tenm4 G T 7: 96,544,949 (GRCm39) G2322W probably damaging Het
Thap1 A G 8: 26,652,597 (GRCm39) T135A probably damaging Het
Traf3 T C 12: 111,228,400 (GRCm39) V537A probably damaging Het
Ttn T C 2: 76,578,680 (GRCm39) D24071G probably damaging Het
Tysnd1 G T 10: 61,531,962 (GRCm39) V205L probably benign Het
Unc79 T C 12: 103,079,081 (GRCm39) S1749P probably benign Het
Vmn2r50 T A 7: 9,771,162 (GRCm39) *846C probably null Het
Vmn2r74 C T 7: 85,606,317 (GRCm39) S343N probably benign Het
Zfyve28 T G 5: 34,379,787 (GRCm39) probably benign Het
Zmym2 T C 14: 57,165,764 (GRCm39) S696P probably damaging Het
Zscan4e T C 7: 11,041,002 (GRCm39) Y290C possibly damaging Het
Zswim2 G T 2: 83,745,891 (GRCm39) H516N 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
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
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 2015-10-08