Incidental Mutation 'R7686:Fam135b'
ID 593118
Institutional Source Beutler Lab
Gene Symbol Fam135b
Ensembl Gene ENSMUSG00000036800
Gene Name family with sequence similarity 135, member B
Synonyms 1700010C24Rik, A830008O07Rik
MMRRC Submission 045751-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7686 (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 C at 71335233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 654 (K654E)
Ref Sequence ENSEMBL: ENSMUSP00000022953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022953]
AlphaFold Q9DAI6
Predicted Effect possibly damaging
Transcript: ENSMUST00000022953
AA Change: K654E

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: K654E

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: 99.1%
Validation Efficiency 100% (78/78)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl A T 1: 66,887,557 (GRCm39) probably null Het
Adgrg5 A T 8: 95,664,430 (GRCm39) I347F Het
Agmo T C 12: 37,469,973 (GRCm39) V431A probably benign Het
Arl14epl A G 18: 47,065,523 (GRCm39) D96G probably damaging Het
Asxl1 C T 2: 153,233,534 (GRCm39) S113F probably damaging Het
Axdnd1 A T 1: 156,223,034 (GRCm39) C81* probably null Het
Bloc1s3 C T 7: 19,241,531 (GRCm39) probably benign Het
Bmper C G 9: 23,310,840 (GRCm39) L425V probably benign Het
Bok A T 1: 93,622,822 (GRCm39) T194S probably benign Het
Bpifa5 A T 2: 154,007,432 (GRCm39) I125L probably benign Het
Brcc3dc T C 10: 108,535,301 (GRCm39) E218G probably damaging Het
Brd10 A T 19: 29,694,870 (GRCm39) I1541N probably benign Het
Brpf3 T C 17: 29,025,908 (GRCm39) I327T probably damaging Het
Camk1 T A 6: 113,313,158 (GRCm39) N297Y probably damaging Het
Catsper2 C T 2: 121,227,937 (GRCm39) probably null Het
Ccdc171 A T 4: 83,575,556 (GRCm39) N480I unknown Het
Cd83 A G 13: 43,938,848 (GRCm39) M22V probably benign Het
Col1a2 A G 6: 4,518,964 (GRCm39) D243G unknown Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Ctla4 A T 1: 60,951,752 (GRCm39) T94S probably benign Het
Cyp2b19 T C 7: 26,461,768 (GRCm39) F196S probably damaging Het
Dhx32 A T 7: 133,361,430 (GRCm39) M1K probably null Het
Epha3 T A 16: 63,593,651 (GRCm39) I146F probably damaging Het
Erbb2 T A 11: 98,326,399 (GRCm39) S1008T probably benign Het
Esp34 A G 17: 38,870,534 (GRCm39) R143G possibly damaging Het
Fgr T C 4: 132,725,324 (GRCm39) M343T probably benign Het
Fibcd1 T G 2: 31,723,880 (GRCm39) D253A probably damaging Het
Foxk1 C T 5: 142,387,625 (GRCm39) S116L probably damaging Het
Gimap8 G A 6: 48,633,006 (GRCm39) G275E probably damaging Het
Glp1r T C 17: 31,144,633 (GRCm39) Y269H probably damaging Het
H2ac20 T C 3: 96,127,886 (GRCm39) E92G probably damaging Het
Lbr A G 1: 181,645,086 (GRCm39) F522S probably damaging Het
Lca5 T C 9: 83,277,292 (GRCm39) N684S probably benign Het
Leng8 C A 7: 4,146,504 (GRCm39) S372* probably null Het
Lrp2 A G 2: 69,319,581 (GRCm39) Y1981H probably damaging Het
Lrrc37a T G 11: 103,389,062 (GRCm39) Q2121P unknown Het
Lrrn2 A G 1: 132,866,332 (GRCm39) T466A probably benign Het
Map3k19 A T 1: 127,749,985 (GRCm39) L1122* probably null Het
Mfsd6 T C 1: 52,701,554 (GRCm39) E632G probably benign Het
Mfsd6l C T 11: 68,448,052 (GRCm39) A301V probably benign Het
Mro A T 18: 74,010,510 (GRCm39) M197L probably benign Het
Ncam2 A T 16: 81,418,342 (GRCm39) E799V probably damaging Het
Nek9 A T 12: 85,350,433 (GRCm39) D880E probably benign Het
Ntng1 T A 3: 109,842,330 (GRCm39) I148L possibly damaging Het
Or1ad6 A G 11: 50,860,582 (GRCm39) T246A possibly damaging Het
Or5ac23 T A 16: 59,149,379 (GRCm39) R164S probably damaging Het
P2ry13 C T 3: 59,117,439 (GRCm39) G113D probably damaging Het
Pnpt1 A T 11: 29,107,070 (GRCm39) T687S probably damaging Het
Pou2af1 T C 9: 51,149,486 (GRCm39) Y193H probably damaging Het
Ppp1r14c T A 10: 3,413,396 (GRCm39) I143N probably damaging Het
Ppp1r16a A T 15: 76,578,783 (GRCm39) S496C probably benign Het
Prdm12 G A 2: 31,530,229 (GRCm39) R40Q probably damaging Het
Rabepk C T 2: 34,669,308 (GRCm39) G362S probably damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rnf26rt A T 6: 76,474,013 (GRCm39) L201H probably damaging Het
Robo2 C A 16: 73,755,293 (GRCm39) V743F probably damaging Het
Scart1 T A 7: 139,802,116 (GRCm39) C148* probably null Het
Scart2 A G 7: 139,828,965 (GRCm39) N208S probably benign Het
Smg1 A T 7: 117,767,081 (GRCm39) Y1804N unknown Het
Ssh2 A G 11: 77,316,150 (GRCm39) E257G possibly damaging Het
Stoml3 T C 3: 53,410,589 (GRCm39) I101T probably damaging Het
Stxbp5 T C 10: 9,645,154 (GRCm39) D950G probably damaging Het
Syt10 T C 15: 89,698,360 (GRCm39) D328G probably damaging Het
Taf3 T C 2: 9,956,299 (GRCm39) K623E probably damaging Het
Tas2r134 T A 2: 51,518,255 (GRCm39) S245T possibly damaging Het
Tfap2b G C 1: 19,284,511 (GRCm39) D140H probably damaging Het
Tjp3 C T 10: 81,113,885 (GRCm39) V458I probably benign Het
Tnpo3 G T 6: 29,562,899 (GRCm39) S606* probably null Het
Tram1l1 T C 3: 124,114,959 (GRCm39) F40L probably benign Het
Ttc29 A T 8: 79,119,759 (GRCm39) T464S probably benign Het
Txndc9 A T 1: 38,026,849 (GRCm39) M192K probably benign Het
Urb2 C A 8: 124,771,911 (GRCm39) A1444E probably benign Het
Uty G A Y: 1,158,075 (GRCm39) T657I possibly damaging Het
Vmn1r1 A T 1: 181,985,590 (GRCm39) V25D probably damaging Het
Vmn2r65 A T 7: 84,589,744 (GRCm39) I724N probably damaging Het
Xkr6 C T 14: 63,844,295 (GRCm39) T106M possibly damaging Het
Zc3h18 G A 8: 123,140,615 (GRCm39) R850Q unknown Het
Zfp341 A G 2: 154,466,781 (GRCm39) E50G probably damaging Het
Zfp62 C A 11: 49,107,985 (GRCm39) A692E 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
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'- AAAGAGTTCCTGTGGTGCGC -3'
(R):5'- CCAAGCAAAGTTGTAGCAGG -3'

Sequencing Primer
(F):5'- CTGATGTAAGACGTCACGATCACTG -3'
(R):5'- TAGCAGGAACAAGCCAGAATAATTC -3'
Posted On 2019-11-12