Incidental Mutation 'IGL03055:Fam135b'
ID 453401
Institutional Source Beutler Lab
Gene Symbol Fam135b
Ensembl Gene ENSMUSG00000036800
Gene Name family with sequence similarity 135, member B
Synonyms 1700010C24Rik, A830008O07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03055 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 71310800-71600282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71493883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 15 (H15Q)
Ref Sequence ENSEMBL: ENSMUSP00000022953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022953] [ENSMUST00000229189]
AlphaFold Q9DAI6
Predicted Effect possibly damaging
Transcript: ENSMUST00000022953
AA Change: H15Q

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: H15Q

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 probably benign
Transcript: ENSMUST00000229189
AA Change: H15Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230569
Meta Mutation Damage Score 0.2163 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900041M22Rik T A 11: 117,503,072 (GRCm39) noncoding transcript Het
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
A430005L14Rik T A 4: 154,045,092 (GRCm39) S40R probably benign Het
Aire A G 10: 77,878,903 (GRCm39) L48P probably damaging Het
Alkbh8 T C 9: 3,345,882 (GRCm39) probably benign Het
Aqp7 A G 4: 41,045,326 (GRCm39) M18T probably benign Het
Cchcr1 T A 17: 35,837,516 (GRCm39) M406K probably benign Het
Cdhr1 A T 14: 36,817,054 (GRCm39) D102E probably benign Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Clec16a T A 16: 10,559,645 (GRCm39) S973T probably damaging Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Csmd1 A G 8: 16,145,515 (GRCm39) Y1471H probably damaging Het
Dnah12 A G 14: 26,594,697 (GRCm39) Y3489C probably damaging Het
Ect2 T C 3: 27,191,211 (GRCm39) E464G probably damaging Het
Enpp2 C A 15: 54,729,481 (GRCm39) probably null Het
Erich2 G T 2: 70,339,529 (GRCm39) C28F possibly damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Gfral T A 9: 76,115,831 (GRCm39) T48S probably benign Het
Itga10 A G 3: 96,557,836 (GRCm39) E293G probably damaging Het
Lrp2 A T 2: 69,288,792 (GRCm39) N3691K probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nefm T C 14: 68,360,358 (GRCm39) T371A probably damaging Het
Nkain3 C A 4: 20,778,308 (GRCm39) C3F probably benign Het
Nol4l G C 2: 153,278,190 (GRCm39) silent Het
Nprl3 C A 11: 32,198,230 (GRCm39) probably benign Het
Or52p1 A T 7: 104,267,413 (GRCm39) I176F probably damaging Het
Pate2 T C 9: 35,523,069 (GRCm39) probably benign Het
Pde4d A G 13: 110,071,879 (GRCm39) K128R probably damaging Het
Ptprt A G 2: 161,375,533 (GRCm39) L1329P probably damaging Het
Rapgef3 T C 15: 97,647,370 (GRCm39) probably benign Het
Rassf5 T C 1: 131,172,732 (GRCm39) I46V probably benign Het
Rin1 C T 19: 5,103,187 (GRCm39) T481I probably benign Het
Samd4b A G 7: 28,104,971 (GRCm39) L524P possibly damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Srebf1 T C 11: 60,097,902 (GRCm39) silent Het
Ssh2 C T 11: 77,299,021 (GRCm39) Q123* probably null Het
St18 G T 1: 6,872,959 (GRCm39) L231F probably damaging Het
Stk11 A C 10: 79,963,920 (GRCm39) D96A probably damaging Het
Svil A G 18: 5,108,615 (GRCm39) T1918A probably damaging Het
Thrap3 G A 4: 126,059,335 (GRCm39) probably null Het
Tlr1 C A 5: 65,083,939 (GRCm39) V213F probably benign Het
Trappc10 C T 10: 78,050,520 (GRCm39) R307Q probably damaging Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Wnt6 G A 1: 74,822,013 (GRCm39) R198H probably damaging Het
Yipf2 A T 9: 21,501,019 (GRCm39) V98E probably benign Het
Zc3h15 A G 2: 83,491,515 (GRCm39) T248A possibly damaging Het
Zc3hav1 C T 6: 38,293,251 (GRCm39) probably null Het
Zfp697 T G 3: 98,332,810 (GRCm39) C79G 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
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
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'- GGGATGAAGGAAATTAGCTCTTAGTC -3'
(R):5'- CATGGTCTTGCCCATCTAAGC -3'

Sequencing Primer
(F):5'- GAAGGAAATTAGCTCTTAGTCAATGC -3'
(R):5'- CCATCTAAGCATTGCTAAGTTGCTGG -3'
Posted On 2017-02-03