Incidental Mutation 'R8961:Fam135b'
ID 682359
Institutional Source Beutler Lab
Gene Symbol Fam135b
Ensembl Gene ENSMUSG00000036800
Gene Name family with sequence similarity 135, member B
Synonyms 1700010C24Rik, A830008O07Rik
MMRRC Submission 068795-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8961 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 71310800-71600282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71404812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 78 (N78I)
Ref Sequence ENSEMBL: ENSMUSP00000155239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022953] [ENSMUST00000229189]
AlphaFold Q9DAI6
Predicted Effect probably damaging
Transcript: ENSMUST00000022953
AA Change: N78I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: N78I

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 damaging
Transcript: ENSMUST00000229189
AA Change: N78I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700064H15Rik T A 3: 19,664,633 (GRCm39) probably benign Het
Angptl6 T C 9: 20,789,467 (GRCm39) T142A probably benign Het
Atp6v1b2 A G 8: 69,555,414 (GRCm39) I202V probably benign Het
B3gat2 A T 1: 23,801,900 (GRCm39) D62V probably benign Het
Ccdc180 A G 4: 45,929,573 (GRCm39) D1211G possibly damaging Het
Ccp110 T G 7: 118,322,110 (GRCm39) D588E probably damaging Het
Cdh6 A T 15: 13,041,447 (GRCm39) I539K probably benign Het
Chd5 A G 4: 152,467,489 (GRCm39) probably benign Het
Crim1 T C 17: 78,680,117 (GRCm39) S953P possibly damaging Het
Dennd2a T C 6: 39,462,555 (GRCm39) K652E probably damaging Het
Dnajb3 T A 1: 88,132,998 (GRCm39) R135* probably null Het
Dnajc25 T A 4: 59,020,438 (GRCm39) M168K Het
Elfn2 T C 15: 78,557,378 (GRCm39) S390G probably benign Het
Ephb6 C T 6: 41,590,293 (GRCm39) A15V probably benign Het
Flot2 G A 11: 77,945,632 (GRCm39) probably benign Het
Gm10277 T A 11: 77,677,826 (GRCm39) probably benign Het
Itpr1 T C 6: 108,470,666 (GRCm39) V2198A possibly damaging Het
Kndc1 T A 7: 139,503,976 (GRCm39) F1093L possibly damaging Het
Kndc1 C T 7: 139,507,708 (GRCm39) S1222F possibly damaging Het
Kpna4 T C 3: 68,986,821 (GRCm39) T523A probably benign Het
Krt39 T C 11: 99,409,931 (GRCm39) D202G possibly damaging Het
Loxhd1 C T 18: 77,472,765 (GRCm39) T985M probably damaging Het
Mdc1 T C 17: 36,159,407 (GRCm39) S596P probably benign Het
Misp A G 10: 79,663,823 (GRCm39) Q599R probably benign Het
Mogs C A 6: 83,092,720 (GRCm39) F53L probably benign Het
Mthfr A T 4: 148,128,099 (GRCm39) N167Y probably damaging Het
Nod1 C T 6: 54,926,461 (GRCm39) E53K probably damaging Het
Or1j11 A T 2: 36,312,177 (GRCm39) I256F probably damaging Het
Or52l1 A G 7: 104,830,376 (GRCm39) I48T possibly damaging Het
Or5m5 T A 2: 85,814,610 (GRCm39) M142K probably damaging Het
Or6c5c C T 10: 129,299,225 (GRCm39) P227S probably damaging Het
Or6z5 T C 7: 6,477,763 (GRCm39) V218A probably benign Het
Pkd1l2 A G 8: 117,726,717 (GRCm39) I2263T possibly damaging Het
Rbbp8 T C 18: 11,865,262 (GRCm39) M717T probably benign Het
Rest A G 5: 77,416,482 (GRCm39) H232R probably damaging Het
Rps6ka1 A G 4: 133,587,362 (GRCm39) probably null Het
Rtf1 T A 2: 119,557,377 (GRCm39) F465I probably benign Het
Skil T C 3: 31,167,729 (GRCm39) S454P probably benign Het
Snx13 T C 12: 35,155,285 (GRCm39) Y450H probably damaging Het
Spef2 T A 15: 9,647,414 (GRCm39) E971V possibly damaging Het
Sqle T A 15: 59,187,695 (GRCm39) M1K probably null Het
Srcap C G 7: 127,141,101 (GRCm39) P1566R probably damaging Het
Stxbp5l ATTTT ATTTTT 16: 37,036,414 (GRCm39) probably null Het
Tmc3 T C 7: 83,256,970 (GRCm39) Y408H probably damaging Het
Uba2 A T 7: 33,855,642 (GRCm39) probably benign Het
Unc13c G T 9: 73,839,524 (GRCm39) N442K probably benign Het
Vmn1r21 T A 6: 57,820,829 (GRCm39) H205L probably damaging Het
Vwa7 C T 17: 35,238,086 (GRCm39) T229I probably damaging Het
Washc4 A G 10: 83,409,657 (GRCm39) D602G probably damaging Het
Zcchc9 C A 13: 91,953,955 (GRCm39) 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
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
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'- GCTTCTTTGAATGAGTAGCCATG -3'
(R):5'- TGCAGTATTCCTTAGGCCAC -3'

Sequencing Primer
(F):5'- TCAGAAGTAGCTGAATATCTGAACC -3'
(R):5'- CTTAGGCCACAAAGACATCTGATGG -3'
Posted On 2021-08-31