Incidental Mutation '2107:Fam184a'
ID 148
Institutional Source Beutler Lab
Gene Symbol Fam184a
Ensembl Gene ENSMUSG00000019856
Gene Name family with sequence similarity 184, member A
Synonyms 3110012E06Rik, 4930589M24Rik, 4930438C08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # 2107 of strain triaka
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 53509241-53627219 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53517153 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Glutamic Acid to Glycine at position 374 (E374G)
Ref Sequence ENSEMBL: ENSMUSP00000151789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020003] [ENSMUST00000163761] [ENSMUST00000164393] [ENSMUST00000169866] [ENSMUST00000171807] [ENSMUST00000218659] [ENSMUST00000218682] [ENSMUST00000217939]
AlphaFold E9PW83
Predicted Effect probably damaging
Transcript: ENSMUST00000020003
AA Change: E977G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: E977G

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 possibly damaging
Transcript: ENSMUST00000163761
AA Change: E872G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: E872G

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 probably benign
Transcript: ENSMUST00000164393
Predicted Effect unknown
Transcript: ENSMUST00000165986
AA Change: E229G
SMART Domains Protein: ENSMUSP00000128132
Gene: ENSMUSG00000019856
AA Change: E229G

DomainStartEndE-ValueType
coiled coil region 9 40 N/A INTRINSIC
coiled coil region 102 166 N/A INTRINSIC
coiled coil region 212 235 N/A INTRINSIC
low complexity region 354 366 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168949
Predicted Effect probably damaging
Transcript: ENSMUST00000169866
AA Change: E35G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128426
Gene: ENSMUSG00000019856
AA Change: E35G

DomainStartEndE-ValueType
coiled coil region 18 41 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171807
AA Change: E524G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856
AA Change: E524G

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
Predicted Effect probably damaging
Transcript: ENSMUST00000218659
AA Change: E200G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000218682
AA Change: E374G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217939
AA Change: E85G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000218780
Meta Mutation Damage Score 0.1405 question?
Coding Region Coverage
  • 1x: 86.3%
  • 3x: 63.7%
Validation Efficiency 80% (79/99)
Allele List at MGI

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

Other mutations in this stock
Total: 6 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid T A 11: 117,726,387 (GRCm39) N198K probably damaging Homo
Mypn C T 10: 63,039,530 (GRCm39) probably benign Homo
Nme7 T A 1: 164,172,922 (GRCm39) I211N possibly damaging Het
Tmod4 G A 3: 95,037,479 (GRCm39) probably null Homo
Wfs1 C T 5: 37,124,617 (GRCm39) R758H probably damaging Het
Zfp112 T C 7: 23,826,266 (GRCm39) C745R probably damaging Het
Other mutations in Fam184a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:Fam184a APN 10 53,570,782 (GRCm39) splice site probably benign
IGL01448:Fam184a APN 10 53,575,045 (GRCm39) missense probably benign 0.19
IGL02052:Fam184a APN 10 53,573,216 (GRCm39) unclassified probably benign
IGL02086:Fam184a APN 10 53,575,351 (GRCm39) missense probably damaging 1.00
IGL02163:Fam184a APN 10 53,523,230 (GRCm39) splice site probably null
IGL02247:Fam184a APN 10 53,551,256 (GRCm39) missense probably damaging 1.00
IGL02316:Fam184a APN 10 53,514,335 (GRCm39) missense probably damaging 1.00
IGL02493:Fam184a APN 10 53,570,789 (GRCm39) critical splice donor site probably null
IGL02629:Fam184a APN 10 53,574,907 (GRCm39) missense possibly damaging 0.80
IGL03006:Fam184a APN 10 53,574,793 (GRCm39) missense probably damaging 1.00
PIT4802001:Fam184a UTSW 10 53,560,450 (GRCm39) nonsense probably null
R0427:Fam184a UTSW 10 53,566,211 (GRCm39) missense probably damaging 1.00
R0477:Fam184a UTSW 10 53,531,175 (GRCm39) missense probably damaging 1.00
R0511:Fam184a UTSW 10 53,574,975 (GRCm39) missense probably benign 0.03
R1322:Fam184a UTSW 10 53,528,415 (GRCm39) missense probably damaging 1.00
R1422:Fam184a UTSW 10 53,551,304 (GRCm39) missense probably benign 0.29
R1474:Fam184a UTSW 10 53,511,461 (GRCm39) missense probably damaging 0.99
R1752:Fam184a UTSW 10 53,550,666 (GRCm39) missense probably benign 0.02
R1831:Fam184a UTSW 10 53,523,180 (GRCm39) missense probably damaging 0.97
R2186:Fam184a UTSW 10 53,514,290 (GRCm39) missense probably damaging 1.00
R2202:Fam184a UTSW 10 53,528,530 (GRCm39) missense probably damaging 1.00
R2203:Fam184a UTSW 10 53,528,530 (GRCm39) missense probably damaging 1.00
R2221:Fam184a UTSW 10 53,531,175 (GRCm39) missense probably damaging 1.00
R2223:Fam184a UTSW 10 53,531,175 (GRCm39) missense probably damaging 1.00
R2261:Fam184a UTSW 10 53,523,666 (GRCm39) critical splice donor site probably null
R2444:Fam184a UTSW 10 53,517,045 (GRCm39) missense probably damaging 1.00
R3876:Fam184a UTSW 10 53,575,157 (GRCm39) missense probably damaging 1.00
R3932:Fam184a UTSW 10 53,575,397 (GRCm39) missense probably damaging 0.99
R4685:Fam184a UTSW 10 53,574,596 (GRCm39) missense probably benign 0.39
R4953:Fam184a UTSW 10 53,574,901 (GRCm39) missense probably benign 0.00
R5056:Fam184a UTSW 10 53,550,670 (GRCm39) missense probably damaging 1.00
R5420:Fam184a UTSW 10 53,509,753 (GRCm39) missense probably damaging 0.99
R6159:Fam184a UTSW 10 53,574,869 (GRCm39) missense probably damaging 1.00
R6554:Fam184a UTSW 10 53,517,063 (GRCm39) missense possibly damaging 0.95
R6714:Fam184a UTSW 10 53,574,979 (GRCm39) missense probably benign 0.00
R6966:Fam184a UTSW 10 53,531,095 (GRCm39) missense probably benign 0.34
R7034:Fam184a UTSW 10 53,570,910 (GRCm39) missense possibly damaging 0.71
R7237:Fam184a UTSW 10 53,510,489 (GRCm39) unclassified probably benign
R7253:Fam184a UTSW 10 53,574,901 (GRCm39) missense probably benign 0.00
R7359:Fam184a UTSW 10 53,575,318 (GRCm39) missense probably damaging 1.00
R7449:Fam184a UTSW 10 53,574,730 (GRCm39) missense probably damaging 0.98
R7479:Fam184a UTSW 10 53,531,110 (GRCm39) missense probably benign 0.01
R7725:Fam184a UTSW 10 53,509,802 (GRCm39) nonsense probably null
R7726:Fam184a UTSW 10 53,509,802 (GRCm39) nonsense probably null
R7881:Fam184a UTSW 10 53,574,589 (GRCm39) missense probably benign 0.00
R7886:Fam184a UTSW 10 53,551,256 (GRCm39) missense probably damaging 1.00
R7896:Fam184a UTSW 10 53,509,802 (GRCm39) nonsense probably null
R7897:Fam184a UTSW 10 53,509,802 (GRCm39) nonsense probably null
R7937:Fam184a UTSW 10 53,509,802 (GRCm39) nonsense probably null
R7943:Fam184a UTSW 10 53,523,137 (GRCm39) missense probably damaging 1.00
R7943:Fam184a UTSW 10 53,509,802 (GRCm39) nonsense probably null
R7970:Fam184a UTSW 10 53,575,421 (GRCm39) missense probably damaging 1.00
R7972:Fam184a UTSW 10 53,514,355 (GRCm39) missense probably damaging 1.00
R8049:Fam184a UTSW 10 53,509,802 (GRCm39) nonsense probably null
R9070:Fam184a UTSW 10 53,514,373 (GRCm39) missense possibly damaging 0.71
R9134:Fam184a UTSW 10 53,573,344 (GRCm39) missense probably damaging 0.99
R9373:Fam184a UTSW 10 53,566,115 (GRCm39) missense probably benign
R9614:Fam184a UTSW 10 53,517,144 (GRCm39) missense probably damaging 1.00
R9644:Fam184a UTSW 10 53,573,342 (GRCm39) missense probably damaging 1.00
R9706:Fam184a UTSW 10 53,575,249 (GRCm39) missense probably damaging 0.99
R9787:Fam184a UTSW 10 53,626,864 (GRCm39) missense possibly damaging 0.69
Z1177:Fam184a UTSW 10 53,575,182 (GRCm39) missense probably damaging 0.97
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to G transition at position 2959 of the Fam184a transcript in exon 15 of 18 total exons. The mutated nucleotide causes a glutamic acid to glycine substitution at amino acid 977 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Fam184a gene encodes an 1143 amino acid that contains several internal repeats and homology with the dimerization and phosphoacceptor domain of histidine kinases (SMART).  
 

The E977G change is located in a coiled coil region of the protein, and is predicted to be probably damaging by the PolyPhen program.

Posted On 2010-03-20