Incidental Mutation 'IGL03214:Fam135a'
ID 413429
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam135a
Ensembl Gene ENSMUSG00000026153
Gene Name family with sequence similarity 135, member A
Synonyms 4921533L14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock # IGL03214
Quality Score
Status
Chromosome 1
Chromosomal Location 24011093-24100341 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24053276 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 201 (L201F)
Ref Sequence ENSEMBL: ENSMUSP00000139633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027337] [ENSMUST00000186999] [ENSMUST00000187369] [ENSMUST00000187752] [ENSMUST00000188712]
AlphaFold Q6NS59
Predicted Effect probably damaging
Transcript: ENSMUST00000027337
AA Change: L244F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: L244F

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 damaging
Transcript: ENSMUST00000186999
AA Change: L244F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153
AA Change: L244F

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: L244F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: L244F

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 damaging
Transcript: ENSMUST00000187752
AA Change: L201F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: L201F

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T C 11: 7,167,054 probably benign Het
Asb5 T C 8: 54,585,063 V207A probably benign Het
Atxn3 G T 12: 101,945,922 probably benign Het
Brwd1 T C 16: 96,037,900 D857G probably benign Het
Cacna1i A G 15: 80,355,716 N322S probably benign Het
Dcun1d1 A T 3: 35,919,071 W92R probably damaging Het
Dnah7a A C 1: 53,522,209 probably null Het
Enpep T C 3: 129,293,247 D581G probably benign Het
Gm14496 T G 2: 182,000,536 L667V probably damaging Het
Grk4 T A 5: 34,752,209 M539K probably benign Het
Itpr2 A G 6: 146,180,244 V2261A probably benign Het
Krtap5-2 A G 7: 142,175,014 S310P unknown Het
Mme A T 3: 63,329,690 Y232F possibly damaging Het
Mtmr4 T C 11: 87,597,693 Y58H probably damaging Het
Myh13 T C 11: 67,353,585 S983P possibly damaging Het
Nbas A G 12: 13,331,110 probably benign Het
Neb T A 2: 52,197,844 T5448S possibly damaging Het
Neb C T 2: 52,159,548 G6428R probably damaging Het
Olfr1156 T A 2: 87,950,071 Q54L probably benign Het
Olfr31 A T 14: 14,328,284 M58L probably damaging Het
Olfr472 T C 7: 107,902,966 M83T probably benign Het
Olfr598 G T 7: 103,328,666 S60I possibly damaging Het
Olfr699 T A 7: 106,790,345 I219L probably benign Het
Otx2 A G 14: 48,661,324 I75T probably damaging Het
Phex A T X: 157,177,504 N681K probably damaging Het
Plekha8 C A 6: 54,635,770 A454E probably damaging Het
Rbfa C A 18: 80,197,291 K152N probably benign Het
Satb2 C A 1: 56,845,580 S513I probably damaging Het
Slc4a2 G T 5: 24,434,881 R520L probably benign Het
Slfn14 T C 11: 83,279,000 H606R probably benign Het
Smc1b G A 15: 85,097,946 Q716* probably null Het
Syncrip C T 9: 88,464,643 probably benign Het
Vmn2r30 T A 7: 7,334,260 I126F probably benign Het
Vps13c C T 9: 67,897,195 A762V probably null Het
Wdr64 C A 1: 175,743,635 probably benign Het
Wisp3 T C 10: 39,153,167 N255S probably benign Het
Other mutations in Fam135a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Fam135a APN 1 24055898 missense probably damaging 1.00
IGL01993:Fam135a APN 1 24055911 missense probably damaging 0.99
IGL02172:Fam135a APN 1 24024780 critical splice donor site probably null
IGL02832:Fam135a APN 1 24028633 missense probably benign 0.00
IGL03075:Fam135a APN 1 24030906 splice site probably benign
IGL03197:Fam135a APN 1 24044182 missense probably damaging 1.00
IGL03355:Fam135a APN 1 24029168 missense possibly damaging 0.93
PIT4434001:Fam135a UTSW 1 24029195 missense probably benign
R0276:Fam135a UTSW 1 24067964 missense probably damaging 1.00
R1429:Fam135a UTSW 1 24044267 missense probably damaging 1.00
R1553:Fam135a UTSW 1 24021870 missense probably damaging 0.97
R1582:Fam135a UTSW 1 24029317 missense probably damaging 1.00
R1686:Fam135a UTSW 1 24029806 missense probably benign 0.05
R1732:Fam135a UTSW 1 24026653 missense possibly damaging 0.71
R1859:Fam135a UTSW 1 24030225 missense probably damaging 1.00
R1954:Fam135a UTSW 1 24029602 missense probably damaging 1.00
R2266:Fam135a UTSW 1 24028797 missense probably benign 0.22
R2570:Fam135a UTSW 1 24021964 missense probably damaging 1.00
R3725:Fam135a UTSW 1 24057434 nonsense probably null
R3740:Fam135a UTSW 1 24014811 missense probably damaging 0.99
R3741:Fam135a UTSW 1 24014811 missense probably damaging 0.99
R3765:Fam135a UTSW 1 24055877 missense possibly damaging 0.95
R3792:Fam135a UTSW 1 24028311 missense probably benign 0.14
R3940:Fam135a UTSW 1 24057475 missense probably damaging 0.98
R3946:Fam135a UTSW 1 24030394 missense probably damaging 0.96
R4754:Fam135a UTSW 1 24028754 nonsense probably null
R4794:Fam135a UTSW 1 24029160 missense probably benign 0.36
R4887:Fam135a UTSW 1 24024253 nonsense probably null
R4891:Fam135a UTSW 1 24030328 missense probably benign 0.00
R4929:Fam135a UTSW 1 24030000 missense probably benign 0.16
R4999:Fam135a UTSW 1 24020677 missense possibly damaging 0.83
R5092:Fam135a UTSW 1 24028807 missense probably benign 0.11
R5205:Fam135a UTSW 1 24029511 missense probably benign 0.05
R5313:Fam135a UTSW 1 24028585 missense possibly damaging 0.89
R5579:Fam135a UTSW 1 24029727 missense possibly damaging 0.93
R5689:Fam135a UTSW 1 24029053 missense probably benign 0.22
R5863:Fam135a UTSW 1 24014782 missense possibly damaging 0.94
R5869:Fam135a UTSW 1 24029430 missense possibly damaging 0.53
R6128:Fam135a UTSW 1 24030740 critical splice donor site probably null
R6505:Fam135a UTSW 1 24014872 missense probably damaging 1.00
R6668:Fam135a UTSW 1 24028848 missense probably damaging 0.99
R6793:Fam135a UTSW 1 24067925 missense possibly damaging 0.69
R6857:Fam135a UTSW 1 24014789 missense probably damaging 0.99
R6931:Fam135a UTSW 1 24085487 start codon destroyed probably damaging 1.00
R6977:Fam135a UTSW 1 24054098 missense probably damaging 1.00
R7187:Fam135a UTSW 1 24044214 missense probably damaging 1.00
R7206:Fam135a UTSW 1 24030273 missense probably benign 0.14
R7305:Fam135a UTSW 1 24030858 missense probably damaging 1.00
R7313:Fam135a UTSW 1 24057392 missense probably damaging 0.98
R7420:Fam135a UTSW 1 24012486 missense possibly damaging 0.68
R7646:Fam135a UTSW 1 24028623 missense probably benign 0.06
R7661:Fam135a UTSW 1 24072762 splice site probably null
R7681:Fam135a UTSW 1 24067915 missense probably benign 0.03
R7748:Fam135a UTSW 1 24028969 missense probably benign 0.00
R7845:Fam135a UTSW 1 24029657 missense probably benign 0.27
R7849:Fam135a UTSW 1 24044250 missense probably damaging 1.00
R7914:Fam135a UTSW 1 24026679 missense probably damaging 1.00
R8236:Fam135a UTSW 1 24020648 splice site probably null
R8314:Fam135a UTSW 1 24021921 missense possibly damaging 0.84
R8403:Fam135a UTSW 1 24028827 missense probably benign 0.21
R8416:Fam135a UTSW 1 24028594 missense probably benign 0.11
R8420:Fam135a UTSW 1 24028488 missense probably benign 0.24
R8423:Fam135a UTSW 1 24021917 missense probably damaging 0.99
R8745:Fam135a UTSW 1 24028488 missense probably benign 0.24
R8754:Fam135a UTSW 1 24028488 missense probably benign 0.24
R8994:Fam135a UTSW 1 24028540 missense probably damaging 1.00
X0022:Fam135a UTSW 1 24030214 missense probably damaging 0.99
Posted On 2016-08-02