Incidental Mutation 'R7545:Fam135b'
ID 584187
Institutional Source Beutler Lab
Gene Symbol Fam135b
Ensembl Gene ENSMUSG00000036800
Gene Name family with sequence similarity 135, member B
Synonyms 1700010C24Rik, A830008O07Rik
MMRRC Submission 045650-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7545 (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 71322359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1269 (K1269E)
Ref Sequence ENSEMBL: ENSMUSP00000022953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022953]
AlphaFold Q9DAI6
Predicted Effect possibly damaging
Transcript: ENSMUST00000022953
AA Change: K1269E

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: K1269E

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: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,696,040 (GRCm39) Y159H probably damaging Het
A1cf A T 19: 31,912,190 (GRCm39) N435I possibly damaging Het
Aasdh A T 5: 77,027,861 (GRCm39) F849I probably damaging Het
Aatf A T 11: 84,361,502 (GRCm39) M367K probably benign Het
Acnat1 A T 4: 49,449,142 (GRCm39) L208* probably null Het
Adam26b C T 8: 43,974,750 (GRCm39) G84D probably damaging Het
Adamtsl1 A T 4: 85,683,092 (GRCm39) E54D probably damaging Het
Ang6 T G 14: 44,239,636 (GRCm39) I31L probably benign Het
Asic4 A G 1: 75,449,060 (GRCm39) N403S probably damaging Het
Bicd1 G A 6: 149,414,990 (GRCm39) V568M probably benign Het
Ccdc192 A G 18: 57,863,895 (GRCm39) E233G probably damaging Het
Cfap45 A T 1: 172,366,163 (GRCm39) M339L probably benign Het
Cnga4 A G 7: 105,056,286 (GRCm39) D399G probably damaging Het
Csnk1g3 C T 18: 54,028,897 (GRCm39) R17W probably damaging Het
Dnah11 A G 12: 117,894,939 (GRCm39) F3636S probably damaging Het
Dscaml1 A T 9: 45,596,681 (GRCm39) T842S probably benign Het
Ets2 C A 16: 95,516,127 (GRCm39) Q236K probably benign Het
Ext2 C A 2: 93,644,108 (GRCm39) V58L probably benign Het
Fech A G 18: 64,597,185 (GRCm39) L258P probably damaging Het
Gls A G 1: 52,230,311 (GRCm39) S467P probably damaging Het
Gm19410 T A 8: 36,269,779 (GRCm39) D1141E probably damaging Het
Gm45861 T G 8: 28,071,032 (GRCm39) M1246R unknown Het
Gm6902 T A 7: 22,973,087 (GRCm39) I147L probably benign Het
Itga7 G T 10: 128,769,775 (GRCm39) probably benign Het
Itpripl1 A T 2: 126,983,581 (GRCm39) C180* probably null Het
Klhl33 C A 14: 51,130,631 (GRCm39) V28F probably damaging Het
Kmo A T 1: 175,481,194 (GRCm39) D304V probably damaging Het
Mier2 T C 10: 79,377,028 (GRCm39) N537S possibly damaging Het
Mroh9 A G 1: 162,902,277 (GRCm39) I112T possibly damaging Het
Mterf1a T A 5: 3,940,995 (GRCm39) E291V probably damaging Het
Muc5ac T A 7: 141,362,405 (GRCm39) N1905K unknown Het
Myt1l G A 12: 29,877,087 (GRCm39) R246Q unknown Het
Nav2 A G 7: 49,232,605 (GRCm39) E1854G probably damaging Het
Nelfcd A G 2: 174,265,771 (GRCm39) probably null Het
Nf1 T A 11: 79,300,350 (GRCm39) D287E probably benign Het
Nfyc T C 4: 120,630,966 (GRCm39) probably null Het
Obscn A T 11: 58,929,725 (GRCm39) D5163E probably damaging Het
Or10d4c C T 9: 39,558,403 (GRCm39) P127L probably damaging Het
Or8g28 T A 9: 39,169,984 (GRCm39) probably null Het
Plppr1 A T 4: 49,320,002 (GRCm39) L209F possibly damaging Het
Pmm1 T C 15: 81,835,803 (GRCm39) D226G probably damaging Het
Polr1b T A 2: 128,959,766 (GRCm39) probably null Het
Ppp2r5a A G 1: 191,104,806 (GRCm39) V80A probably benign Het
Pramel17 T A 4: 101,695,159 (GRCm39) I51L probably benign Het
Psrc1 A G 3: 108,293,759 (GRCm39) probably null Het
Ralbp1 T C 17: 66,174,593 (GRCm39) T60A probably benign Het
Rasal2 A T 1: 157,020,339 (GRCm39) S217T possibly damaging Het
Rnase12 A G 14: 51,294,395 (GRCm39) F95L probably damaging Het
Rnf152 A T 1: 105,211,957 (GRCm39) I200K probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,134 (GRCm39) probably benign Het
Ryk C T 9: 102,765,672 (GRCm39) T327I probably damaging Het
Sell A T 1: 163,892,903 (GRCm39) T40S probably benign Het
Slc15a2 G A 16: 36,595,964 (GRCm39) H153Y probably damaging Het
Slit3 A G 11: 35,591,139 (GRCm39) D1317G possibly damaging Het
Slx4 G A 16: 3,817,164 (GRCm39) T19M probably benign Het
Spata31 C T 13: 65,070,359 (GRCm39) R836* probably null Het
Specc1l T C 10: 75,080,921 (GRCm39) S106P probably benign Het
Speer1a C A 5: 11,394,884 (GRCm39) Q124K possibly damaging Het
Stc2 T C 11: 31,317,799 (GRCm39) N74S probably damaging Het
Strn3 A T 12: 51,674,543 (GRCm39) S498T probably damaging Het
Sva C T 6: 42,019,148 (GRCm39) T106I probably benign Het
Tle3 T A 9: 61,301,984 (GRCm39) L131Q possibly damaging Het
Tmem135 T A 7: 88,954,727 (GRCm39) R97W probably damaging Het
Tmx4 A G 2: 134,451,425 (GRCm39) L176S possibly damaging Het
Tomm20l C A 12: 71,164,171 (GRCm39) probably null Het
Topors A T 4: 40,262,173 (GRCm39) F370L possibly damaging Het
Ulk4 T C 9: 120,970,904 (GRCm39) T1023A probably benign Het
Unc13a C T 8: 72,094,153 (GRCm39) probably null Het
Urb2 T C 8: 124,756,491 (GRCm39) S733P probably benign Het
Vwf A G 6: 125,591,060 (GRCm39) D750G Het
Xylt1 G A 7: 117,192,812 (GRCm39) D373N 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
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'- CAGGTTGAAGAGACACCGCTAG -3'
(R):5'- GTCTCTGTGCACACTCACAC -3'

Sequencing Primer
(F):5'- GTTGAAGAGACACCGCTAGACATC -3'
(R):5'- TCTCTGTGCACACTCACACCTAATAC -3'
Posted On 2019-10-17