Incidental Mutation 'R1701:Fam135b'
ID 189753
Institutional Source Beutler Lab
Gene Symbol Fam135b
Ensembl Gene ENSMUSG00000036800
Gene Name family with sequence similarity 135, member B
Synonyms 1700010C24Rik, A830008O07Rik
MMRRC Submission 039734-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1701 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 71310800-71600282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71331578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1137 (H1137R)
Ref Sequence ENSEMBL: ENSMUSP00000022953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022953]
AlphaFold Q9DAI6
Predicted Effect probably damaging
Transcript: ENSMUST00000022953
AA Change: H1137R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: H1137R

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,142 (GRCm39) L53P probably damaging Het
Acadsb T A 7: 131,026,213 (GRCm39) F19I probably benign Het
Aldh3a2 C T 11: 61,147,598 (GRCm39) G303S probably damaging Het
Anks1b T C 10: 89,885,816 (GRCm39) Y171H probably damaging Het
Anxa7 A T 14: 20,510,229 (GRCm39) I385N probably damaging Het
Astn1 A T 1: 158,331,877 (GRCm39) T324S possibly damaging Het
Ccdc88a T C 11: 29,427,427 (GRCm39) V235A possibly damaging Het
Crhr2 T C 6: 55,076,255 (GRCm39) K258R probably damaging Het
Ctnnd1 T C 2: 84,439,335 (GRCm39) E786G probably damaging Het
Ctnnd2 G A 15: 30,922,127 (GRCm39) D918N probably damaging Het
Dnah9 A G 11: 65,802,750 (GRCm39) S200P probably damaging Het
Dot1l T C 10: 80,626,576 (GRCm39) S1266P possibly damaging Het
Efemp1 A G 11: 28,871,750 (GRCm39) T422A possibly damaging Het
Flot2 C T 11: 77,940,373 (GRCm39) S40L possibly damaging Het
Fras1 G A 5: 96,748,643 (GRCm39) S706N probably benign Het
Gbf1 T C 19: 46,250,114 (GRCm39) L357P probably damaging Het
Gpatch2l A G 12: 86,335,726 (GRCm39) S476G probably benign Het
Hbb-bh2 T C 7: 103,489,450 (GRCm39) T34A probably benign Het
Ints8 A G 4: 11,231,656 (GRCm39) L443P probably damaging Het
Intu T A 3: 40,618,694 (GRCm39) D233E probably damaging Het
Itprid2 A G 2: 79,466,394 (GRCm39) K75E probably damaging Het
Kctd1 T A 18: 15,102,617 (GRCm39) I259L possibly damaging Het
Lama5 A G 2: 179,863,162 (GRCm39) C108R probably damaging Het
Lgals3bp T C 11: 118,284,781 (GRCm39) Y266C probably damaging Het
Lrig2 T C 3: 104,401,993 (GRCm39) I111V probably benign Het
Mtcl2 T C 2: 156,872,539 (GRCm39) N936S probably damaging Het
Myh8 G T 11: 67,170,964 (GRCm39) C125F probably damaging Het
Or2d3c C A 7: 106,526,129 (GRCm39) C179F probably damaging Het
Or2h2 C T 17: 37,396,623 (GRCm39) V145M probably benign Het
Or51a10 T C 7: 103,699,402 (GRCm39) E53G possibly damaging Het
Or5ac21 T C 16: 59,123,651 (GRCm39) I46T probably benign Het
Or5p76 T G 7: 108,122,731 (GRCm39) Q142P probably benign Het
Or5w16 T A 2: 87,576,894 (GRCm39) M118K probably damaging Het
Or6c202 T C 10: 128,995,974 (GRCm39) Q293R probably damaging Het
Or8g4 A T 9: 39,662,365 (GRCm39) I228F probably damaging Het
Pate8 A G 9: 36,493,114 (GRCm39) probably benign Het
Phc2 C T 4: 128,645,400 (GRCm39) P836S probably damaging Het
Pla2g7 T C 17: 43,911,415 (GRCm39) F189S probably damaging Het
Ptprk A G 10: 28,342,054 (GRCm39) D487G probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rad54l2 A G 9: 106,577,692 (GRCm39) probably null Het
Robo4 G T 9: 37,314,739 (GRCm39) V198L probably benign Het
Selenbp1 C A 3: 94,844,701 (GRCm39) H119Q probably damaging Het
Slc25a13 T C 6: 6,152,525 (GRCm39) probably null Het
Slc35f5 A G 1: 125,498,330 (GRCm39) E176G possibly damaging Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Tenm4 G A 7: 96,552,096 (GRCm39) V2512M probably damaging Het
Tmc8 A G 11: 117,682,188 (GRCm39) probably null Het
Trim30d C T 7: 104,133,389 (GRCm39) W21* probably null Het
Ube3c G A 5: 29,806,200 (GRCm39) V281I probably benign Het
Usp17ld T C 7: 102,899,783 (GRCm39) K383R probably benign Het
Vmn1r172 A T 7: 23,359,529 (GRCm39) Y138F probably damaging Het
Vmn1r180 T C 7: 23,652,395 (GRCm39) V186A possibly damaging Het
Vmn2r25 T A 6: 123,828,754 (GRCm39) probably null Het
Vmn2r61 T C 7: 41,949,935 (GRCm39) F785S probably damaging Het
Zfp141 T A 7: 42,125,470 (GRCm39) Y334F probably benign Het
Zfp609 T C 9: 65,638,282 (GRCm39) I317V probably benign Het
Zfp879 A G 11: 50,724,060 (GRCm39) I259T possibly 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
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
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'- AGGCTCTGTTGACTCACAAATTCCAC -3'
(R):5'- TGATTCCCTGCTCAACATGGAATACAC -3'

Sequencing Primer
(F):5'- GTTGACTCACAAATTCCACTAATTCC -3'
(R):5'- CTGCTCAACATGGAATACACAGTATG -3'
Posted On 2014-05-14