Incidental Mutation 'IGL01448:Fam184a'
ID 84492
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam184a
Ensembl Gene ENSMUSG00000019856
Gene Name family with sequence similarity 184, member A
Synonyms 4930438C08Rik, 4930589M24Rik, 3110012E06Rik
Accession Numbers

Genbank: NM_001081428; MGI: 1923156

Is this an essential gene? Probably non essential (E-score: 0.140) question?
Stock # IGL01448
Quality Score
Status
Chromosome 10
Chromosomal Location 53633145-53751123 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 53698949 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 188 (A188E)
Ref Sequence ENSEMBL: ENSMUSP00000020003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020003] [ENSMUST00000163761] [ENSMUST00000171807]
AlphaFold E9PW83
Predicted Effect probably benign
Transcript: ENSMUST00000020003
AA Change: A188E

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: A188E

DomainStartEndE-ValueType
Pfam:FAM184 57 267 1.5e-84 PFAM
low complexity region 436 449 N/A INTRINSIC
Blast:HisKA 533 598 4e-6 BLAST
coiled coil region 656 788 N/A INTRINSIC
internal_repeat_2 795 864 2.49e-6 PROSPERO
internal_repeat_1 800 866 4.75e-7 PROSPERO
coiled coil region 960 983 N/A INTRINSIC
low complexity region 1101 1113 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163761
AA Change: A132E

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: A132E

DomainStartEndE-ValueType
coiled coil region 4 88 N/A INTRINSIC
internal_repeat_1 99 167 6.86e-8 PROSPERO
internal_repeat_2 105 173 4e-7 PROSPERO
low complexity region 380 393 N/A INTRINSIC
Blast:HisKA 480 542 5e-6 BLAST
coiled coil region 600 732 N/A INTRINSIC
internal_repeat_2 739 808 4e-7 PROSPERO
internal_repeat_1 744 810 6.86e-8 PROSPERO
low complexity region 906 916 N/A INTRINSIC
low complexity region 961 973 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170839
Predicted Effect probably benign
Transcript: ENSMUST00000171807
SMART Domains Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856

DomainStartEndE-ValueType
low complexity region 32 45 N/A INTRINSIC
Pfam:DUF3090 64 159 5.9e-8 PFAM
low complexity region 303 343 N/A INTRINSIC
low complexity region 358 364 N/A INTRINSIC
internal_repeat_1 383 410 4.35e-5 PROSPERO
internal_repeat_1 424 451 4.35e-5 PROSPERO
low complexity region 648 660 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,405,847 E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,633 probably benign Het
2610303G11Rik T A 9: 98,186,709 noncoding transcript Het
4931414P19Rik T C 14: 54,585,960 D320G possibly damaging Het
Adamts6 G A 13: 104,297,164 E34K probably damaging Het
Alms1 T A 6: 85,677,899 N3142K possibly damaging Het
Anapc7 G A 5: 122,428,213 A62T probably damaging Het
Atp8b3 G A 10: 80,520,422 P1152L probably benign Het
Cc2d2a C T 5: 43,684,185 T181I possibly damaging Het
Celsr2 A G 3: 108,393,239 L2835P probably damaging Het
Ctns A T 11: 73,188,722 V99D possibly damaging Het
Dchs1 T C 7: 105,771,927 R429G probably damaging Het
Ddx11 T C 17: 66,134,137 V218A probably damaging Het
Eftud2 G A 11: 102,865,563 probably benign Het
Erich1 G T 8: 14,078,853 T29N possibly damaging Het
Exosc8 T C 3: 54,729,265 E215G probably damaging Het
Fign A G 2: 63,979,688 S413P probably damaging Het
Fkbp6 A G 5: 135,349,696 S33P probably damaging Het
Glb1 A G 9: 114,450,677 probably benign Het
H2-Q1 T C 17: 35,323,461 probably benign Het
Helz2 T C 2: 181,233,977 T1575A probably damaging Het
Il18r1 A G 1: 40,474,730 E32G probably damaging Het
Ints5 C T 19: 8,895,487 P270L possibly damaging Het
Itga7 G T 10: 128,949,468 E847* probably null Het
Kcns3 A C 12: 11,091,643 S352A possibly damaging Het
Kiz A G 2: 146,863,801 K94E probably benign Het
Lin7b C T 7: 45,369,200 V12M probably damaging Het
Myo18b A T 5: 112,811,704 I1409N probably damaging Het
Myo5b A G 18: 74,644,090 H407R probably damaging Het
Nelfa T C 5: 33,898,802 T506A probably damaging Het
Olfr497 T A 7: 108,423,028 Y152* probably null Het
Olfr763 A G 10: 129,011,860 T192A probably damaging Het
Olfr816 A G 10: 129,912,245 I11T possibly damaging Het
Olfr984 A T 9: 40,101,082 M136K probably damaging Het
Pclo A C 5: 14,676,394 probably benign Het
Pes1 G A 11: 3,977,979 E544K possibly damaging Het
Rabgap1l A G 1: 160,740,745 probably benign Het
Rapgef2 C T 3: 79,103,962 probably null Het
Rapgef2 T C 3: 79,068,937 M1521V probably benign Het
Reln A G 5: 22,040,405 V735A probably benign Het
Slc2a4 A G 11: 69,945,076 S316P possibly damaging Het
Smarce1 C T 11: 99,210,187 G373E possibly damaging Het
Spata31d1a T A 13: 59,701,559 R918S probably benign Het
St3gal4 T C 9: 35,052,331 K227R probably benign Het
Stra6l T A 4: 45,864,864 probably null Het
Stxbp5l T C 16: 37,215,979 I425V probably damaging Het
Tcaf2 T C 6: 42,630,328 T231A probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tnks A G 8: 34,839,982 Y1138H probably damaging Het
Vezt T A 10: 93,996,857 I231F probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Zbed3 A G 13: 95,336,634 K189E possibly damaging Het
Zfp512b T C 2: 181,587,785 T625A possibly damaging Het
Zfp827 A T 8: 79,060,733 Q176L possibly damaging Het
Other mutations in Fam184a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:Fam184a APN 10 53694686 splice site probably benign
IGL02052:Fam184a APN 10 53697120 unclassified probably benign
IGL02086:Fam184a APN 10 53699255 missense probably damaging 1.00
IGL02163:Fam184a APN 10 53647134 splice site probably null
IGL02247:Fam184a APN 10 53675160 missense probably damaging 1.00
IGL02316:Fam184a APN 10 53638239 missense probably damaging 1.00
IGL02493:Fam184a APN 10 53694693 critical splice donor site probably null
IGL02629:Fam184a APN 10 53698811 missense possibly damaging 0.80
IGL03006:Fam184a APN 10 53698697 missense probably damaging 1.00
2107:Fam184a UTSW 10 53641057 missense probably damaging 1.00
PIT4802001:Fam184a UTSW 10 53684354 nonsense probably null
R0427:Fam184a UTSW 10 53690115 missense probably damaging 1.00
R0477:Fam184a UTSW 10 53655079 missense probably damaging 1.00
R0511:Fam184a UTSW 10 53698879 missense probably benign 0.03
R1322:Fam184a UTSW 10 53652319 missense probably damaging 1.00
R1422:Fam184a UTSW 10 53675208 missense probably benign 0.29
R1474:Fam184a UTSW 10 53635365 missense probably damaging 0.99
R1752:Fam184a UTSW 10 53674570 missense probably benign 0.02
R1831:Fam184a UTSW 10 53647084 missense probably damaging 0.97
R2186:Fam184a UTSW 10 53638194 missense probably damaging 1.00
R2202:Fam184a UTSW 10 53652434 missense probably damaging 1.00
R2203:Fam184a UTSW 10 53652434 missense probably damaging 1.00
R2221:Fam184a UTSW 10 53655079 missense probably damaging 1.00
R2223:Fam184a UTSW 10 53655079 missense probably damaging 1.00
R2261:Fam184a UTSW 10 53647570 critical splice donor site probably null
R2444:Fam184a UTSW 10 53640949 missense probably damaging 1.00
R3876:Fam184a UTSW 10 53699061 missense probably damaging 1.00
R3932:Fam184a UTSW 10 53699301 missense probably damaging 0.99
R4685:Fam184a UTSW 10 53698500 missense probably benign 0.39
R4953:Fam184a UTSW 10 53698805 missense probably benign 0.00
R5056:Fam184a UTSW 10 53674574 missense probably damaging 1.00
R5420:Fam184a UTSW 10 53633657 missense probably damaging 0.99
R6159:Fam184a UTSW 10 53698773 missense probably damaging 1.00
R6554:Fam184a UTSW 10 53640967 missense possibly damaging 0.95
R6714:Fam184a UTSW 10 53698883 missense probably benign 0.00
R6966:Fam184a UTSW 10 53654999 missense probably benign 0.34
R7034:Fam184a UTSW 10 53694814 missense possibly damaging 0.71
R7237:Fam184a UTSW 10 53634393 unclassified probably benign
R7253:Fam184a UTSW 10 53698805 missense probably benign 0.00
R7359:Fam184a UTSW 10 53699222 missense probably damaging 1.00
R7449:Fam184a UTSW 10 53698634 missense probably damaging 0.98
R7479:Fam184a UTSW 10 53655014 missense probably benign 0.01
R7725:Fam184a UTSW 10 53633706 nonsense probably null
R7726:Fam184a UTSW 10 53633706 nonsense probably null
R7881:Fam184a UTSW 10 53698493 missense probably benign 0.00
R7886:Fam184a UTSW 10 53675160 missense probably damaging 1.00
R7896:Fam184a UTSW 10 53633706 nonsense probably null
R7897:Fam184a UTSW 10 53633706 nonsense probably null
R7937:Fam184a UTSW 10 53633706 nonsense probably null
R7943:Fam184a UTSW 10 53633706 nonsense probably null
R7943:Fam184a UTSW 10 53647041 missense probably damaging 1.00
R7970:Fam184a UTSW 10 53699325 missense probably damaging 1.00
R7972:Fam184a UTSW 10 53638259 missense probably damaging 1.00
R8049:Fam184a UTSW 10 53633706 nonsense probably null
R9070:Fam184a UTSW 10 53638277 missense possibly damaging 0.71
R9134:Fam184a UTSW 10 53697248 missense probably damaging 0.99
R9373:Fam184a UTSW 10 53690019 missense probably benign
R9614:Fam184a UTSW 10 53641048 missense probably damaging 1.00
R9644:Fam184a UTSW 10 53697246 missense probably damaging 1.00
Z1177:Fam184a UTSW 10 53699086 missense probably damaging 0.97
Posted On 2013-11-11