Incidental Mutation 'IGL01993:Fam135a'
ID 182072
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
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # IGL01993
Quality Score
Status
Chromosome 1
Chromosomal Location 24050174-24139422 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24094992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 125 (D125E)
Ref Sequence ENSEMBL: ENSMUSP00000140766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027337] [ENSMUST00000186999] [ENSMUST00000187369] [ENSMUST00000187752] [ENSMUST00000188712]
AlphaFold Q6NS59
Predicted Effect probably benign
Transcript: ENSMUST00000027337
AA Change: D125E

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: D125E

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: D125E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153
AA Change: D125E

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: D125E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: D125E

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
AA Change: D82E

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: D82E

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C A 11: 9,208,452 (GRCm39) probably benign Het
Acnat2 A T 4: 49,380,131 (GRCm39) S398T probably benign Het
Adgrb2 G T 4: 129,912,635 (GRCm39) E1296D possibly damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Anapc2 C A 2: 25,164,725 (GRCm39) D322E probably benign Het
Apobec1 A G 6: 122,565,138 (GRCm39) probably benign Het
Asic1 T C 15: 99,595,353 (GRCm39) V393A probably benign Het
Cfap65 A C 1: 74,959,702 (GRCm39) F816C probably damaging Het
Cfap69 A C 5: 5,631,284 (GRCm39) L914R probably damaging Het
Cgas A G 9: 78,349,802 (GRCm39) S187P probably benign Het
Cspg4 C T 9: 56,805,762 (GRCm39) T2191I probably benign Het
Cyp11a1 T A 9: 57,928,106 (GRCm39) I210N probably damaging Het
Dgkb T A 12: 38,032,009 (GRCm39) Y24N probably benign Het
Epc1 T C 18: 6,449,136 (GRCm39) T504A possibly damaging Het
Fgd3 T C 13: 49,433,664 (GRCm39) H345R possibly damaging Het
Gm12253 T C 11: 58,325,379 (GRCm39) V17A probably damaging Het
Hars1 C T 18: 36,903,265 (GRCm39) G355D probably damaging Het
Hpgd A T 8: 56,772,097 (GRCm39) I190F probably benign Het
Ighv1-34 A T 12: 114,815,003 (GRCm39) M53K probably benign Het
Ildr2 A T 1: 166,096,939 (GRCm39) T53S possibly damaging Het
Ints5 T A 19: 8,872,829 (GRCm39) C263S probably benign Het
Lars2 T C 9: 123,224,008 (GRCm39) probably benign Het
Ldha G A 7: 46,504,524 (GRCm39) A349T possibly damaging Het
Map3k2 T A 18: 32,359,684 (GRCm39) C512* probably null Het
Parp4 G A 14: 56,848,245 (GRCm39) R687Q possibly damaging Het
Plk2 T C 13: 110,535,731 (GRCm39) S518P probably damaging Het
Prrc2b T G 2: 32,114,057 (GRCm39) V2036G possibly damaging Het
Psg16 T A 7: 16,827,631 (GRCm39) S196T probably benign Het
Psme3ip1 G T 8: 95,302,380 (GRCm39) A217D possibly damaging Het
Ranbp17 T C 11: 33,450,770 (GRCm39) T56A possibly damaging Het
Retsat T C 6: 72,581,978 (GRCm39) probably benign Het
Robo3 G T 9: 37,335,949 (GRCm39) L484I probably damaging Het
Septin4 G T 11: 87,458,555 (GRCm39) G310W possibly damaging Het
Slc17a6 T C 7: 51,317,705 (GRCm39) M446T possibly damaging Het
Slc38a1 G A 15: 96,521,927 (GRCm39) T11M probably damaging Het
Tmem138 T C 19: 10,548,952 (GRCm39) N106S probably benign Het
Traf1 G A 2: 34,836,879 (GRCm39) probably benign Het
Tspan8 T C 10: 115,675,913 (GRCm39) probably benign Het
Ubr5 T C 15: 37,973,256 (GRCm39) E2615G probably damaging Het
Vwde A G 6: 13,219,977 (GRCm39) I58T possibly damaging Het
Zc3h12c A G 9: 52,027,611 (GRCm39) S603P probably damaging Het
Zfp746 A T 6: 48,059,092 (GRCm39) S172R probably damaging Het
Other mutations in Fam135a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Fam135a APN 1 24,094,979 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2014-05-07