Incidental Mutation 'R8167:Fam135b'
ID 633871
Institutional Source Beutler Lab
Gene Symbol Fam135b
Ensembl Gene ENSMUSG00000036800
Gene Name family with sequence similarity 135, member B
Synonyms 1700010C24Rik, A830008O07Rik
MMRRC Submission 067593-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8167 (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 A at 71404840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 69 (S69C)
Ref Sequence ENSEMBL: ENSMUSP00000022953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022953]
AlphaFold Q9DAI6
Predicted Effect probably null
Transcript: ENSMUST00000022953
AA Change: S69C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: S69C

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: 99.5%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T A 7: 43,147,288 (GRCm39) I315F possibly damaging Het
Aadacl2fm3 T A 3: 59,784,632 (GRCm39) D368E probably benign Het
Acin1 G A 14: 54,902,337 (GRCm39) T485I probably benign Het
Adamts2 A T 11: 50,670,541 (GRCm39) I552F probably damaging Het
Anapc11 T A 11: 120,490,112 (GRCm39) N9K probably benign Het
Arhgef18 A T 8: 3,403,636 (GRCm39) probably benign Het
Atp9b T C 18: 80,890,398 (GRCm39) T314A Het
Birc6 T A 17: 74,950,389 (GRCm39) I3214N probably damaging Het
Catsperb A G 12: 101,557,714 (GRCm39) I762V probably benign Het
Cblb T A 16: 51,986,365 (GRCm39) M536K probably benign Het
Ccdc85c C A 12: 108,240,759 (GRCm39) A212S unknown Het
Cdh23 T A 10: 60,150,162 (GRCm39) D2561V probably benign Het
Cdh23 T A 10: 60,173,472 (GRCm39) Y1672F probably damaging Het
Cep83 T C 10: 94,564,579 (GRCm39) S173P possibly damaging Het
Ctc1 C T 11: 68,918,584 (GRCm39) P530S probably damaging Het
D630045J12Rik A G 6: 38,167,484 (GRCm39) probably null Het
Dnah7b A T 1: 46,292,671 (GRCm39) I3019F possibly damaging Het
Dsc1 T C 18: 20,230,258 (GRCm39) D349G probably damaging Het
Ehd2 C G 7: 15,697,917 (GRCm39) G107R probably damaging Het
Epha3 A T 16: 63,388,804 (GRCm39) W816R probably damaging Het
Fbxo43 A G 15: 36,151,917 (GRCm39) F600S probably damaging Het
Flnc A T 6: 29,455,921 (GRCm39) D2117V probably damaging Het
Gas2l3 T A 10: 89,262,342 (GRCm39) T127S probably damaging Het
Gli3 T G 13: 15,900,228 (GRCm39) L1205R probably benign Het
Gm17093 A T 14: 44,758,139 (GRCm39) I107F Het
Gm7298 T A 6: 121,761,414 (GRCm39) C1323* probably null Het
H2-D1 A G 17: 35,485,741 (GRCm39) T89A Het
Hira T G 16: 18,715,259 (GRCm39) D52E probably benign Het
Ighv6-6 G C 12: 114,398,525 (GRCm39) Y80* probably null Het
Kat6b C T 14: 21,719,953 (GRCm39) T1435I probably damaging Het
Kcna1 C A 6: 126,620,443 (GRCm39) probably benign Het
Kif24 C A 4: 41,392,957 (GRCm39) R1284L possibly damaging Het
Kremen2 A C 17: 23,962,314 (GRCm39) C173G probably damaging Het
Krtap24-1 G C 16: 88,408,707 (GRCm39) Q140E probably benign Het
Lrrc66 C A 5: 73,786,952 (GRCm39) G133* probably null Het
Mast1 C A 8: 85,647,987 (GRCm39) R498L probably damaging Het
Myom3 T C 4: 135,534,504 (GRCm39) I1231T possibly damaging Het
Nid2 G A 14: 19,860,131 (GRCm39) V1350I possibly damaging Het
Or4f59 A T 2: 111,872,789 (GRCm39) V196D possibly damaging Het
Or8j3c A G 2: 86,253,484 (GRCm39) C179R probably damaging Het
Or9r3 T C 10: 129,948,350 (GRCm39) Q103R probably damaging Het
Pde4a A G 9: 21,117,469 (GRCm39) D577G possibly damaging Het
Pde4d T A 13: 109,578,855 (GRCm39) N36K probably benign Het
Plekhg1 A T 10: 3,907,452 (GRCm39) S845C Het
Plekhg1 G A 10: 3,907,453 (GRCm39) S845N Het
Plod1 C T 4: 148,004,658 (GRCm39) D481N probably damaging Het
Plxna4 T A 6: 32,493,981 (GRCm39) M212L probably damaging Het
Ppip5k1 C A 2: 121,173,282 (GRCm39) E464* probably null Het
Raph1 T A 1: 60,529,270 (GRCm39) M664L unknown Het
Rbm11 A C 16: 75,395,673 (GRCm39) M115L probably benign Het
Rerg T C 6: 137,034,869 (GRCm39) H45R possibly damaging Het
Rnf43 A G 11: 87,618,232 (GRCm39) E47G probably benign Het
Rsph1 A G 17: 31,496,260 (GRCm39) probably benign Het
Safb A G 17: 56,892,286 (GRCm39) E42G unknown Het
Scn1a A T 2: 66,155,182 (GRCm39) D592E probably damaging Het
Sdf4 T G 4: 156,093,379 (GRCm39) V237G possibly damaging Het
Slc44a2 C A 9: 21,258,068 (GRCm39) H439Q possibly damaging Het
Smg7 A T 1: 152,720,123 (GRCm39) N761K possibly damaging Het
Snrpb2 A G 2: 142,910,284 (GRCm39) E114G probably benign Het
Spmip11 A G 15: 98,486,548 (GRCm39) H106R probably benign Het
Ssh1 T C 5: 114,090,051 (GRCm39) D346G possibly damaging Het
Svopl T A 6: 37,993,979 (GRCm39) I351F probably damaging Het
Tgfb2 A G 1: 186,422,942 (GRCm39) S136P possibly damaging Het
Thsd7a A T 6: 12,317,400 (GRCm39) L1636* probably null Het
Tmc2 A G 2: 130,083,488 (GRCm39) T482A probably benign Het
Tnk2 C A 16: 32,499,080 (GRCm39) P798T probably damaging Het
Trim5 T C 7: 103,927,630 (GRCm39) Y170C probably damaging Het
Ttll10 T C 4: 156,129,213 (GRCm39) M310V probably null Het
Unc13c T A 9: 73,643,985 (GRCm39) T1160S probably damaging Het
Usp25 A T 16: 76,904,819 (GRCm39) D795V probably damaging Het
Usp28 T A 9: 48,949,148 (GRCm39) V914E probably damaging Het
Utrn A T 10: 12,547,558 (GRCm39) C1627* probably null Het
Vmn1r28 C A 6: 58,243,052 (GRCm39) F298L noncoding transcript Het
Vps29 T C 5: 122,500,877 (GRCm39) S69P possibly damaging Het
Zfp703 T A 8: 27,469,782 (GRCm39) L482H 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
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
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'- ACCTGGGGTCCAACAATGAG -3'
(R):5'- ATGGGGCTTTTAAGTACTGATCAAC -3'

Sequencing Primer
(F):5'- TCCAACAATGAGAGGAAATGGTTTAG -3'
(R):5'- ACACAGATGTTCTCATGATGCGG -3'
Posted On 2020-07-13