Incidental Mutation 'R3940:Fam135a'
ID 307394
Institutional Source Beutler Lab
Gene Symbol Fam135a
Ensembl Gene ENSMUSG00000026153
Gene Name family with sequence similarity 135, member A
Synonyms 4921533L14Rik
MMRRC Submission 040922-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R3940 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 24050174-24139422 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24096556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 63 (H63L)
Ref Sequence ENSEMBL: ENSMUSP00000140766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027337] [ENSMUST00000186999] [ENSMUST00000187369] [ENSMUST00000187752] [ENSMUST00000188712]
AlphaFold Q6NS59
Predicted Effect probably damaging
Transcript: ENSMUST00000027337
AA Change: H63L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: H63L

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 noncoding transcript
Transcript: ENSMUST00000185525
Predicted Effect probably benign
Transcript: ENSMUST00000186999
AA Change: H63L

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153
AA Change: H63L

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 damaging
Transcript: ENSMUST00000187369
AA Change: H63L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: H63L

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: ENSMUST00000187752
SMART Domains Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153

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
AA Change: H63L

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
Meta Mutation Damage Score 0.0761 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 95% (35/37)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Acsm3 A G 7: 119,373,109 (GRCm39) E204G probably benign Het
Acta2 A T 19: 34,220,880 (GRCm39) I276N possibly damaging Het
Ankrd16 T C 2: 11,789,192 (GRCm39) C260R probably benign Het
Ankrd42 T C 7: 92,240,996 (GRCm39) probably null Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Calm5 A T 13: 3,904,485 (GRCm39) I37F possibly damaging Het
Casq1 A G 1: 172,047,103 (GRCm39) V52A possibly damaging Het
Col22a1 A T 15: 71,853,782 (GRCm39) L260* probably null Het
Cttnbp2 C A 6: 18,420,974 (GRCm39) V846L probably benign Het
Dnah12 A G 14: 26,444,754 (GRCm39) T627A probably benign Het
Eogt T C 6: 97,090,875 (GRCm39) I421M probably damaging Het
Fmo3 T A 1: 162,791,555 (GRCm39) T241S probably benign Het
Frem3 T C 8: 81,341,649 (GRCm39) I1314T possibly damaging Het
Gm14393 T C 2: 174,903,420 (GRCm39) probably null Het
Kcna5 C T 6: 126,510,614 (GRCm39) V505I probably damaging Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Neto2 G A 8: 86,400,747 (GRCm39) T16I probably damaging Het
Or7a41 T A 10: 78,871,038 (GRCm39) I136N probably damaging Het
Or8k40 T A 2: 86,584,275 (GRCm39) D269V possibly damaging Het
Pcdhb7 T C 18: 37,477,021 (GRCm39) L719P probably damaging Het
Pcdhga9 G A 18: 37,871,995 (GRCm39) R608H probably benign Het
Pik3ip1 A G 11: 3,281,987 (GRCm39) N48S probably damaging Het
Pkn2 G A 3: 142,499,672 (GRCm39) S951L probably damaging Het
Prrc2a T C 17: 35,376,474 (GRCm39) H772R possibly damaging Het
Ric1 T C 19: 29,548,162 (GRCm39) Y277H probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf123 A T 9: 107,941,234 (GRCm39) probably benign Het
Robo1 T C 16: 72,806,631 (GRCm39) S1166P probably benign Het
S100a10 A G 3: 93,468,383 (GRCm39) E38G probably benign Het
Slc34a1 A T 13: 55,560,983 (GRCm39) I483F probably damaging Het
Stim1 A G 7: 102,084,848 (GRCm39) N600S probably benign Het
Ube3c T A 5: 29,824,358 (GRCm39) N517K probably benign 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
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
R7646:Fam135a UTSW 1 24,067,704 (GRCm39) missense probably benign 0.06
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'- CATCTGTGAAATGTAGACCCAACG -3'
(R):5'- AGCCAGCTGCATCATTTTGTAC -3'

Sequencing Primer
(F):5'- TGTGAAATGTAGACCCAACGATAAC -3'
(R):5'- TGAACAGTAAAGATCTAAGTTGCCCC -3'
Posted On 2015-04-17