Incidental Mutation 'R9365:Fam135b'
ID 708927
Institutional Source Beutler Lab
Gene Symbol Fam135b
Ensembl Gene ENSMUSG00000036800
Gene Name family with sequence similarity 135, member B
Synonyms 1700010C24Rik, A830008O07Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9365 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 71310800-71600282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71334813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 794 (S794P)
Ref Sequence ENSEMBL: ENSMUSP00000022953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022953]
AlphaFold Q9DAI6
Predicted Effect probably benign
Transcript: ENSMUST00000022953
AA Change: S794P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: S794P

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 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Ahi1 G A 10: 20,848,035 (GRCm39) R481Q probably damaging Het
Arhgef3 T C 14: 27,101,555 (GRCm39) I77T probably damaging Het
Ash1l T A 3: 88,889,207 (GRCm39) V362E possibly damaging Het
Bcat2 T A 7: 45,225,294 (GRCm39) F57L probably damaging Het
Ccdc73 C T 2: 104,738,011 (GRCm39) L36F probably damaging Het
Ccl19 C T 4: 42,756,288 (GRCm39) V15I probably benign Het
Cenpe T A 3: 134,954,207 (GRCm39) V1688E possibly damaging Het
Ces1a A T 8: 93,774,727 (GRCm39) F4I probably benign Het
Chchd6 G A 6: 89,551,413 (GRCm39) P83S probably benign Het
Cnr1 T C 4: 33,943,798 (GRCm39) M62T probably benign Het
Colec12 T C 18: 9,848,146 (GRCm39) L108P probably damaging Het
Cyb5a T C 18: 84,894,979 (GRCm39) probably benign Het
Dhrs4 C T 14: 55,724,776 (GRCm39) T181I probably benign Het
Disc1 T C 8: 125,851,285 (GRCm39) S392P probably benign Het
Dnah3 A G 7: 119,566,859 (GRCm39) F69L Het
Ehmt1 T C 2: 24,728,722 (GRCm39) D726G probably damaging Het
Epg5 T A 18: 77,997,957 (GRCm39) L462I probably damaging Het
Exoc2 A T 13: 31,040,697 (GRCm39) S774T probably benign Het
Frmd4a T C 2: 4,606,973 (GRCm39) V646A probably benign Het
Gm3543 G T 14: 41,804,093 (GRCm39) D57E possibly damaging Het
Golgb1 T A 16: 36,736,124 (GRCm39) D1831E probably damaging Het
Hace1 T G 10: 45,586,092 (GRCm39) probably null Het
Irgc T C 7: 24,131,872 (GRCm39) E315G possibly damaging Het
Ism1 A G 2: 139,582,321 (GRCm39) Y211C probably damaging Het
Kpna1 T G 16: 35,833,287 (GRCm39) V121G probably damaging Het
Lifr T A 15: 7,198,521 (GRCm39) F250L probably damaging Het
Llgl2 A G 11: 115,740,407 (GRCm39) T368A probably benign Het
Lmln T A 16: 32,925,169 (GRCm39) C467* probably null Het
Lrrtm3 T C 10: 63,923,943 (GRCm39) E408G probably benign Het
Melk C T 4: 44,340,693 (GRCm39) A330V probably null Het
Mmp13 T G 9: 7,277,921 (GRCm39) D271E probably benign Het
Myh11 T C 16: 14,052,297 (GRCm39) T390A Het
Myh8 A G 11: 67,174,632 (GRCm39) K249R probably benign Het
Nr1h4 T A 10: 89,319,315 (GRCm39) M184L probably damaging Het
Obscn T A 11: 58,885,337 (GRCm39) probably null Het
Otog T G 7: 45,920,688 (GRCm39) C964G probably damaging Het
Oxct2b T C 4: 123,010,589 (GRCm39) S170P probably benign Het
Pcdha4 T C 18: 37,087,112 (GRCm39) S432P possibly damaging Het
Prb1a T A 6: 132,184,201 (GRCm39) R477S unknown Het
Prh1 G A 6: 132,549,108 (GRCm39) G205D unknown Het
Psg23 C T 7: 18,344,393 (GRCm39) G354D probably damaging Het
Pura T G 18: 36,420,913 (GRCm39) D233E possibly damaging Het
Rb1cc1 G T 1: 6,315,117 (GRCm39) L423F probably damaging Het
Rimbp3 T C 16: 17,026,620 (GRCm39) S15P possibly damaging Het
Scn1a A G 2: 66,148,465 (GRCm39) F7L probably benign Het
Sftpb A T 6: 72,284,189 (GRCm39) R203* probably null Het
Slc30a9 A G 5: 67,507,142 (GRCm39) K478R probably damaging Het
Slc35f5 T A 1: 125,496,333 (GRCm39) M156K probably benign Het
Slc41a3 A G 6: 90,612,327 (GRCm39) I232V probably benign Het
Slit2 A G 5: 48,461,534 (GRCm39) D1527G probably benign Het
Srfbp1 T G 18: 52,623,540 (GRCm39) V389G possibly damaging Het
Sun2 C T 15: 79,622,720 (GRCm39) probably null Het
Tep1 G T 14: 51,064,597 (GRCm39) A2386D probably damaging Het
Tex15 T A 8: 34,064,564 (GRCm39) S1331R possibly damaging Het
Tgm1 A T 14: 55,942,349 (GRCm39) N667K probably damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tsen54 T C 11: 115,713,410 (GRCm39) F438L probably damaging Het
Ube4a T C 9: 44,862,191 (GRCm39) H150R probably benign Het
Uty T C Y: 1,099,712 (GRCm39) N1161S possibly damaging Het
Vmn2r16 T A 5: 109,488,064 (GRCm39) D312E probably damaging Het
Wdr55 T G 18: 36,893,354 (GRCm39) C5W probably damaging Het
Zbtb24 C A 10: 41,332,540 (GRCm39) P405Q probably damaging Het
Zkscan2 T A 7: 123,079,591 (GRCm39) I789F 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
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
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'- AACATGTAGTGGGGTCTCAGC -3'
(R):5'- CAGTGGCATTCAGGCTTCTC -3'

Sequencing Primer
(F):5'- TCCAGACAACAGGGTTCTTG -3'
(R):5'- GTGGCATTCAGGCTTCTCTTTCC -3'
Posted On 2022-04-18