Incidental Mutation 'R7646:Fam135a'
ID 590513
Institutional Source Beutler Lab
Gene Symbol Fam135a
Ensembl Gene ENSMUSG00000026153
Gene Name family with sequence similarity 135, member A
Synonyms 4921533L14Rik
MMRRC Submission 045724-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R7646 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 24050174-24139422 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24067704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1055 (H1055R)
Ref Sequence ENSEMBL: ENSMUSP00000027337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027337] [ENSMUST00000185807] [ENSMUST00000186331] [ENSMUST00000186999] [ENSMUST00000187369] [ENSMUST00000187752] [ENSMUST00000188712]
AlphaFold Q6NS59
Predicted Effect probably benign
Transcript: ENSMUST00000027337
AA Change: H1055R

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: H1055R

DomainStartEndE-ValueType
Pfam:DUF3657 111 172 1.9e-19 PFAM
coiled coil region 270 295 N/A INTRINSIC
low complexity region 489 502 N/A INTRINSIC
low complexity region 842 853 N/A INTRINSIC
low complexity region 1072 1085 N/A INTRINSIC
Blast:LRRNT 1139 1172 4e-6 BLAST
low complexity region 1173 1184 N/A INTRINSIC
Pfam:DUF676 1235 1431 9e-65 PFAM
Pfam:PGAP1 1237 1440 3.9e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185807
SMART Domains Protein: ENSMUSP00000140078
Gene: ENSMUSG00000026153

DomainStartEndE-ValueType
Blast:LRRNT 27 60 4e-7 BLAST
low complexity region 61 72 N/A INTRINSIC
Pfam:DUF676 104 161 2.2e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000186331
AA Change: H155R

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140947
Gene: ENSMUSG00000026153
AA Change: H155R

DomainStartEndE-ValueType
low complexity region 172 185 N/A INTRINSIC
Blast:LRRNT 239 272 1e-6 BLAST
low complexity region 273 284 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186999
SMART Domains Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153

DomainStartEndE-ValueType
Pfam:DUF3657 111 173 1.8e-15 PFAM
Pfam:DUF3657 338 395 7.3e-8 PFAM
low complexity region 672 683 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187369
AA Change: H859R

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: H859R

DomainStartEndE-ValueType
Pfam:DUF3657 111 173 3e-15 PFAM
coiled coil region 270 295 N/A INTRINSIC
Pfam:DUF3657 312 369 1.2e-7 PFAM
low complexity region 646 657 N/A INTRINSIC
low complexity region 876 889 N/A INTRINSIC
Blast:LRRNT 943 976 4e-6 BLAST
low complexity region 977 988 N/A INTRINSIC
Pfam:DUF676 1039 1235 6.8e-62 PFAM
Pfam:PGAP1 1041 1259 8.1e-5 PFAM
Pfam:LCAT 1097 1203 2.3e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187619
Predicted Effect probably benign
Transcript: ENSMUST00000187752
AA Change: H842R

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: H842R

DomainStartEndE-ValueType
Pfam:DUF3657 68 130 3e-15 PFAM
Pfam:DUF3657 295 352 1.2e-7 PFAM
low complexity region 629 640 N/A INTRINSIC
low complexity region 859 872 N/A INTRINSIC
Blast:LRRNT 926 959 4e-6 BLAST
low complexity region 960 971 N/A INTRINSIC
Pfam:DUF676 1022 1218 6.7e-62 PFAM
Pfam:PGAP1 1024 1242 8e-5 PFAM
Pfam:LCAT 1080 1186 2.2e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188712
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,113,937 (GRCm39) H936R probably benign Het
Afg3l1 C A 8: 124,219,766 (GRCm39) D431E possibly damaging Het
Agrn T C 4: 156,279,811 (GRCm39) N120S probably damaging Het
Apob A G 12: 8,059,189 (GRCm39) D2557G probably damaging Het
Atl2 A G 17: 80,162,036 (GRCm39) Y359H probably damaging Het
Banp T C 8: 122,750,775 (GRCm39) S489P possibly damaging Het
Cage1 A G 13: 38,206,823 (GRCm39) C341R probably damaging Het
Cdh23 T C 10: 60,140,931 (GRCm39) N3139S possibly damaging Het
Chd2 G T 7: 73,085,521 (GRCm39) S1704R possibly damaging Het
Col4a2 T A 8: 11,495,086 (GRCm39) F1515I probably benign Het
Crocc T A 4: 140,748,966 (GRCm39) Q1613L probably null Het
Cttnbp2 A T 6: 18,375,939 (GRCm39) S1533R probably damaging Het
Dlgap5 C T 14: 47,636,976 (GRCm39) probably null Het
Dnah8 G A 17: 30,868,651 (GRCm39) D362N probably benign Het
Elf5 G T 2: 103,269,588 (GRCm39) K56N probably benign Het
Emsy G A 7: 98,268,560 (GRCm39) P508S probably damaging Het
Fh1 C T 1: 175,442,479 (GRCm39) V124I probably benign Het
Gbf1 T A 19: 46,272,111 (GRCm39) D1610E probably damaging Het
Glp1r A G 17: 31,155,257 (GRCm39) K415E probably benign Het
Glyr1 T C 16: 4,836,361 (GRCm39) D496G probably damaging Het
Herc2 A G 7: 55,784,361 (GRCm39) I1342V probably benign Het
Hoxa7 A G 6: 52,192,699 (GRCm39) *230Q probably null Het
Ice1 A G 13: 70,737,916 (GRCm39) V2177A possibly damaging Het
Ildr1 T A 16: 36,542,281 (GRCm39) M271K possibly damaging Het
Klk1b22 T G 7: 43,765,542 (GRCm39) probably null Het
Lig3 T A 11: 82,674,304 (GRCm39) N43K probably benign Het
Mcmdc2 A G 1: 9,982,360 (GRCm39) T83A possibly damaging Het
Megf10 GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA GGCAGCAACAGCACCAGCAGCA 18: 57,427,071 (GRCm39) probably benign Het
Mki67 A T 7: 135,298,498 (GRCm39) S2179T possibly damaging Het
Mrpl38 G A 11: 116,023,593 (GRCm39) S282L probably damaging Het
Ndst2 A G 14: 20,774,527 (GRCm39) probably null Het
Nlrp4a C G 7: 26,148,987 (GRCm39) A198G probably damaging Het
Nup98 A C 7: 101,803,242 (GRCm39) S653A probably benign Het
Or12e8 A G 2: 87,188,102 (GRCm39) I105V probably benign Het
Or13a27 A G 7: 139,925,864 (GRCm39) F13L probably damaging Het
Or14j10 G T 17: 37,935,295 (GRCm39) T77K probably damaging Het
Or51ai2 G A 7: 103,587,504 (GRCm39) A306T probably damaging Het
Or8k37 C A 2: 86,469,513 (GRCm39) D180Y probably damaging Het
Pclo A T 5: 14,570,909 (GRCm39) D98V probably damaging Het
Peg3 A T 7: 6,712,221 (GRCm39) D1000E probably benign Het
Polr3h A G 15: 81,801,571 (GRCm39) Y131H probably damaging Het
Rapgef6 A G 11: 54,516,780 (GRCm39) I346V probably benign Het
Rufy1 T A 11: 50,301,436 (GRCm39) K332M probably damaging Het
Scn1a T C 2: 66,118,102 (GRCm39) M404V possibly damaging Het
Septin8 T A 11: 53,428,744 (GRCm39) probably null Het
Sesn3 A G 9: 14,219,911 (GRCm39) D100G probably damaging Het
Setx A G 2: 29,067,561 (GRCm39) I2388V possibly damaging Het
Skint5 T A 4: 113,620,739 (GRCm39) probably null Het
Slc25a23 C T 17: 57,366,759 (GRCm39) probably benign Het
Slc4a7 G A 14: 14,773,348 (GRCm38) E773K probably benign Het
Slco3a1 G A 7: 74,154,344 (GRCm39) A76V probably damaging Het
Stradb A T 1: 59,033,567 (GRCm39) D410V probably benign Het
Syne1 T C 10: 5,122,949 (GRCm39) D329G probably damaging Het
Syt4 A C 18: 31,574,658 (GRCm39) S320A possibly damaging Het
Tnfsf4 A G 1: 161,244,733 (GRCm39) T141A possibly damaging Het
Trim34b G A 7: 103,984,559 (GRCm39) A279T probably damaging Het
Trpm6 A T 19: 18,845,325 (GRCm39) D1675V probably benign Het
Vmn2r24 T A 6: 123,793,169 (GRCm39) M832K probably benign Het
Wdr90 A G 17: 26,079,104 (GRCm39) V246A probably benign Het
Xkr6 G T 14: 63,844,423 (GRCm39) D149Y probably damaging Het
Zfp108 A G 7: 23,960,840 (GRCm39) Y477C probably damaging Het
Zfp37 T G 4: 62,109,532 (GRCm39) I552L probably damaging Het
Zfp426 A T 9: 20,381,320 (GRCm39) S556T probably damaging Het
Zfp954 G A 7: 7,118,720 (GRCm39) L275F possibly damaging Het
Other mutations in Fam135a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Fam135a APN 1 24,094,979 (GRCm39) missense probably damaging 1.00
IGL01993:Fam135a APN 1 24,094,992 (GRCm39) missense probably damaging 0.99
IGL02172:Fam135a APN 1 24,063,861 (GRCm39) critical splice donor site probably null
IGL02832:Fam135a APN 1 24,067,714 (GRCm39) missense probably benign 0.00
IGL03075:Fam135a APN 1 24,069,987 (GRCm39) splice site probably benign
IGL03197:Fam135a APN 1 24,083,263 (GRCm39) missense probably damaging 1.00
IGL03214:Fam135a APN 1 24,092,357 (GRCm39) missense probably damaging 1.00
IGL03355:Fam135a APN 1 24,068,249 (GRCm39) missense possibly damaging 0.93
PIT4434001:Fam135a UTSW 1 24,068,276 (GRCm39) missense probably benign
R0276:Fam135a UTSW 1 24,107,045 (GRCm39) missense probably damaging 1.00
R1429:Fam135a UTSW 1 24,083,348 (GRCm39) missense probably damaging 1.00
R1553:Fam135a UTSW 1 24,060,951 (GRCm39) missense probably damaging 0.97
R1582:Fam135a UTSW 1 24,068,398 (GRCm39) missense probably damaging 1.00
R1686:Fam135a UTSW 1 24,068,887 (GRCm39) missense probably benign 0.05
R1732:Fam135a UTSW 1 24,065,734 (GRCm39) missense possibly damaging 0.71
R1859:Fam135a UTSW 1 24,069,306 (GRCm39) missense probably damaging 1.00
R1954:Fam135a UTSW 1 24,068,683 (GRCm39) missense probably damaging 1.00
R2266:Fam135a UTSW 1 24,067,878 (GRCm39) missense probably benign 0.22
R2570:Fam135a UTSW 1 24,061,045 (GRCm39) missense probably damaging 1.00
R3725:Fam135a UTSW 1 24,096,515 (GRCm39) nonsense probably null
R3740:Fam135a UTSW 1 24,053,892 (GRCm39) missense probably damaging 0.99
R3741:Fam135a UTSW 1 24,053,892 (GRCm39) missense probably damaging 0.99
R3765:Fam135a UTSW 1 24,094,958 (GRCm39) missense possibly damaging 0.95
R3792:Fam135a UTSW 1 24,067,392 (GRCm39) missense probably benign 0.14
R3940:Fam135a UTSW 1 24,096,556 (GRCm39) missense probably damaging 0.98
R3946:Fam135a UTSW 1 24,069,475 (GRCm39) missense probably damaging 0.96
R4754:Fam135a UTSW 1 24,067,835 (GRCm39) nonsense probably null
R4794:Fam135a UTSW 1 24,068,241 (GRCm39) missense probably benign 0.36
R4887:Fam135a UTSW 1 24,063,334 (GRCm39) nonsense probably null
R4891:Fam135a UTSW 1 24,069,409 (GRCm39) missense probably benign 0.00
R4929:Fam135a UTSW 1 24,069,081 (GRCm39) missense probably benign 0.16
R4999:Fam135a UTSW 1 24,059,758 (GRCm39) missense possibly damaging 0.83
R5092:Fam135a UTSW 1 24,067,888 (GRCm39) missense probably benign 0.11
R5205:Fam135a UTSW 1 24,068,592 (GRCm39) missense probably benign 0.05
R5313:Fam135a UTSW 1 24,067,666 (GRCm39) missense possibly damaging 0.89
R5579:Fam135a UTSW 1 24,068,808 (GRCm39) missense possibly damaging 0.93
R5689:Fam135a UTSW 1 24,068,134 (GRCm39) missense probably benign 0.22
R5863:Fam135a UTSW 1 24,053,863 (GRCm39) missense possibly damaging 0.94
R5869:Fam135a UTSW 1 24,068,511 (GRCm39) missense possibly damaging 0.53
R6128:Fam135a UTSW 1 24,069,821 (GRCm39) critical splice donor site probably null
R6505:Fam135a UTSW 1 24,053,953 (GRCm39) missense probably damaging 1.00
R6668:Fam135a UTSW 1 24,067,929 (GRCm39) missense probably damaging 0.99
R6793:Fam135a UTSW 1 24,107,006 (GRCm39) missense possibly damaging 0.69
R6857:Fam135a UTSW 1 24,053,870 (GRCm39) missense probably damaging 0.99
R6931:Fam135a UTSW 1 24,124,568 (GRCm39) start codon destroyed probably damaging 1.00
R6977:Fam135a UTSW 1 24,093,179 (GRCm39) missense probably damaging 1.00
R7187:Fam135a UTSW 1 24,083,295 (GRCm39) missense probably damaging 1.00
R7206:Fam135a UTSW 1 24,069,354 (GRCm39) missense probably benign 0.14
R7305:Fam135a UTSW 1 24,069,939 (GRCm39) missense probably damaging 1.00
R7313:Fam135a UTSW 1 24,096,473 (GRCm39) missense probably damaging 0.98
R7420:Fam135a UTSW 1 24,051,567 (GRCm39) missense possibly damaging 0.68
R7661:Fam135a UTSW 1 24,111,843 (GRCm39) splice site probably null
R7681:Fam135a UTSW 1 24,106,996 (GRCm39) missense probably benign 0.03
R7748:Fam135a UTSW 1 24,068,050 (GRCm39) missense probably benign 0.00
R7845:Fam135a UTSW 1 24,068,738 (GRCm39) missense probably benign 0.27
R7849:Fam135a UTSW 1 24,083,331 (GRCm39) missense probably damaging 1.00
R7914:Fam135a UTSW 1 24,065,760 (GRCm39) missense probably damaging 1.00
R8236:Fam135a UTSW 1 24,059,729 (GRCm39) splice site probably null
R8314:Fam135a UTSW 1 24,061,002 (GRCm39) missense possibly damaging 0.84
R8403:Fam135a UTSW 1 24,067,908 (GRCm39) missense probably benign 0.21
R8416:Fam135a UTSW 1 24,067,675 (GRCm39) missense probably benign 0.11
R8420:Fam135a UTSW 1 24,067,569 (GRCm39) missense probably benign 0.24
R8423:Fam135a UTSW 1 24,060,998 (GRCm39) missense probably damaging 0.99
R8745:Fam135a UTSW 1 24,067,569 (GRCm39) missense probably benign 0.24
R8754:Fam135a UTSW 1 24,067,569 (GRCm39) missense probably benign 0.24
R8994:Fam135a UTSW 1 24,067,621 (GRCm39) missense probably damaging 1.00
X0022:Fam135a UTSW 1 24,069,295 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCACTCAGATAGTTGCTGC -3'
(R):5'- GGGCTCAGTGCAGATAGAAC -3'

Sequencing Primer
(F):5'- ATAGTTGCTGCTTAGTTTTTCAGAC -3'
(R):5'- TGCAGATAGAACTGTGGAAGG -3'
Posted On 2019-10-24