Incidental Mutation 'IGL01307:Fam205a1'
ID73472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam205a1
Ensembl Gene ENSMUSG00000078721
Gene Namefamily with sequence similarity 205, member A1
SynonymsGm12429
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL01307
Quality Score
Status
Chromosome4
Chromosomal Location42848071-42853888 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 42850963 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Isoleucine at position 398 (L398I)
Ref Sequence ENSEMBL: ENSMUSP00000103613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068158] [ENSMUST00000107979] [ENSMUST00000107981] [ENSMUST00000107984]
Predicted Effect probably benign
Transcript: ENSMUST00000068158
SMART Domains Protein: ENSMUSP00000068585
Gene: ENSMUSG00000054885

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107979
AA Change: L398I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000103613
Gene: ENSMUSG00000078721
AA Change: L398I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:DUF4599 52 137 5e-26 PFAM
low complexity region 169 179 N/A INTRINSIC
internal_repeat_1 278 314 8.5e-5 PROSPERO
Pfam:FAM75 409 493 4.3e-10 PFAM
Pfam:FAM75 453 628 1.2e-12 PFAM
low complexity region 1160 1172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107981
SMART Domains Protein: ENSMUSP00000103615
Gene: ENSMUSG00000078722

DomainStartEndE-ValueType
Pfam:DUF4599 1 56 1.4e-15 PFAM
low complexity region 87 104 N/A INTRINSIC
Pfam:FAM75 157 279 9.4e-9 PFAM
Pfam:FAM75 322 366 6.1e-10 PFAM
Pfam:FAM75 365 543 8.3e-11 PFAM
low complexity region 882 895 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107984
SMART Domains Protein: ENSMUSP00000103618
Gene: ENSMUSG00000054885

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,297,159 M2302K possibly damaging Het
Actl9 A G 17: 33,434,178 E404G probably damaging Het
Adamts12 A T 15: 11,237,546 I314L possibly damaging Het
Card6 C A 15: 5,100,002 M637I possibly damaging Het
Ccdc122 G A 14: 77,092,076 probably benign Het
Cdh10 A G 15: 18,899,800 D71G probably benign Het
Cdk15 A T 1: 59,287,796 Y214F probably benign Het
Cdon A G 9: 35,457,564 K365E probably benign Het
Cyp2c37 T C 19: 39,992,579 V47A probably benign Het
Ddc T A 11: 11,839,462 D271V probably damaging Het
Dnah6 G A 6: 73,065,725 A3290V probably damaging Het
Dtl A T 1: 191,570,699 S20T possibly damaging Het
Egf A C 3: 129,739,993 I66S probably damaging Het
Eif4a3 T C 11: 119,293,561 K268E probably damaging Het
Fbxl16 A T 17: 25,819,364 probably benign Het
Fez2 C T 17: 78,381,600 probably benign Het
Fras1 C A 5: 96,781,692 T3985K probably benign Het
Gbp4 T C 5: 105,137,021 M1V probably null Het
Gpnmb A G 6: 49,045,365 D143G probably benign Het
Grm5 A T 7: 88,075,012 T837S probably damaging Het
Hmcn1 T C 1: 150,745,001 T1153A possibly damaging Het
Hp C T 8: 109,575,783 V178I probably benign Het
Macf1 A T 4: 123,383,129 V4061E probably damaging Het
Msto1 C A 3: 88,913,686 R34L probably benign Het
Mtf2 C T 5: 108,106,890 T519M probably damaging Het
Myo3a T A 2: 22,558,289 N25K probably damaging Het
Ncapd2 A G 6: 125,168,619 V1355A possibly damaging Het
Nhlrc2 C A 19: 56,551,799 Y73* probably null Het
Nwd2 A T 5: 63,808,283 S1737C possibly damaging Het
Olfr59 T A 11: 74,289,428 C261S possibly damaging Het
Osmr A G 15: 6,844,427 V163A probably damaging Het
Palm3 T C 8: 84,029,445 S529P possibly damaging Het
Pcnt A G 10: 76,411,588 Y1037H probably damaging Het
Pkhd1l1 T C 15: 44,530,029 I1920T possibly damaging Het
Plekha7 A G 7: 116,145,244 probably benign Het
Psd C T 19: 46,314,658 G762R probably damaging Het
Psmb8 A G 17: 34,199,236 T51A probably benign Het
Rbm12 A C 2: 156,095,382 probably benign Het
Rictor T A 15: 6,774,604 probably null Het
Slc24a5 G A 2: 125,080,880 G158S probably damaging Het
Stag1 A G 9: 100,951,788 probably benign Het
Tln2 A G 9: 67,395,467 M74T probably benign Het
Trim24 C A 6: 37,965,635 D957E possibly damaging Het
Trpa1 A T 1: 14,896,547 M531K probably benign Het
Ttn A G 2: 76,906,293 Y4376H possibly damaging Het
Twsg1 T C 17: 65,948,651 probably benign Het
Usp34 T A 11: 23,417,676 V1671E probably damaging Het
Vwa5b2 A G 16: 20,604,270 D1006G probably benign Het
Other mutations in Fam205a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Fam205a1 APN 4 42852548 splice site probably null
IGL02737:Fam205a1 APN 4 42849431 missense possibly damaging 0.90
IGL02951:Fam205a1 APN 4 42850696 missense probably benign 0.03
IGL03190:Fam205a1 APN 4 42848362 missense probably benign 0.20
IGL03407:Fam205a1 APN 4 42850528 missense probably benign 0.00
R0285:Fam205a1 UTSW 4 42850236 missense probably benign 0.00
R0345:Fam205a1 UTSW 4 42851116 missense probably benign 0.00
R0373:Fam205a1 UTSW 4 42851161 missense probably benign 0.00
R0763:Fam205a1 UTSW 4 42851238 missense probably damaging 1.00
R1668:Fam205a1 UTSW 4 42848424 missense probably damaging 0.99
R2406:Fam205a1 UTSW 4 42851696 missense probably benign
R3722:Fam205a1 UTSW 4 42851472 missense probably benign 0.01
R4820:Fam205a1 UTSW 4 42851815 missense probably damaging 1.00
R5168:Fam205a1 UTSW 4 42851488 missense probably damaging 0.99
R6170:Fam205a1 UTSW 4 42849345 missense probably benign 0.00
R6249:Fam205a1 UTSW 4 42850528 missense probably benign 0.00
R6357:Fam205a1 UTSW 4 42850393 missense probably damaging 1.00
R6496:Fam205a1 UTSW 4 42848424 missense probably damaging 0.99
R6894:Fam205a1 UTSW 4 42850291 missense probably benign 0.33
R7079:Fam205a1 UTSW 4 42851718 missense probably benign 0.17
Posted On2013-10-07