Incidental Mutation 'IGL02086:Fam184a'
ID 285455
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02086
Quality Score
Status
Chromosome 10
Chromosomal Location 53509241-53627219 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53575351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 30 (I30T)
Ref Sequence ENSEMBL: ENSMUSP00000127400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020003] [ENSMUST00000163761] [ENSMUST00000171807]
AlphaFold E9PW83
Predicted Effect probably damaging
Transcript: ENSMUST00000020003
AA Change: I86T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: I86T

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 damaging
Transcript: ENSMUST00000163761
AA Change: I30T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: I30T

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,623 (GRCm39) probably benign Het
Abi3bp A G 16: 56,462,930 (GRCm39) probably benign Het
Asb4 T C 6: 5,398,386 (GRCm39) I117T probably benign Het
Birc6 T G 17: 74,946,822 (GRCm39) L2847R probably damaging Het
C2cd2 A G 16: 97,691,208 (GRCm39) probably benign Het
Ccdc77 C A 6: 120,316,119 (GRCm39) C186F possibly damaging Het
Cd300ld2 T A 11: 114,903,384 (GRCm39) probably benign Het
Cd55b A T 1: 130,345,919 (GRCm39) D166E probably benign Het
Cfap100 A G 6: 90,390,954 (GRCm39) F8L probably damaging Het
Col2a1 C T 15: 97,884,618 (GRCm39) probably null Het
Dbf4 A G 5: 8,453,189 (GRCm39) I270T probably benign Het
Dkk3 T C 7: 111,748,236 (GRCm39) S123G probably benign Het
Ep400 A G 5: 110,824,809 (GRCm39) probably benign Het
Fam20a T C 11: 109,564,239 (GRCm39) I505V probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fcho1 T C 8: 72,169,444 (GRCm39) E154G probably damaging Het
Klhdc1 A G 12: 69,329,958 (GRCm39) I362M probably benign Het
Knl1 A T 2: 118,931,255 (GRCm39) E1990D probably benign Het
Lancl2 A G 6: 57,711,024 (GRCm39) Y394C probably damaging Het
Lgi2 G A 5: 52,723,299 (GRCm39) S50F probably damaging Het
Map2k7 A G 8: 4,288,950 (GRCm39) E14G probably damaging Het
Mga A G 2: 119,754,517 (GRCm39) I1009V probably damaging Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nek2 G A 1: 191,563,401 (GRCm39) A422T probably benign Het
Nfkbiz A T 16: 55,636,034 (GRCm39) L509Q probably damaging Het
Or56b2 A T 7: 104,337,634 (GRCm39) R137S probably benign Het
Pgap1 T A 1: 54,587,147 (GRCm39) Q143L probably damaging Het
Pkd1l3 C T 8: 110,392,217 (GRCm39) T1937I probably damaging Het
Pou1f1 A G 16: 65,326,784 (GRCm39) E128G probably damaging Het
Ppfia3 T C 7: 44,989,996 (GRCm39) probably benign Het
Prkd1 T C 12: 50,434,046 (GRCm39) I566V probably benign Het
Psd2 A G 18: 36,138,959 (GRCm39) R528G probably damaging Het
Ptprg G T 14: 12,110,080 (GRCm38) E263* probably null Het
Radil T C 5: 142,529,576 (GRCm39) D40G probably benign Het
Ryr2 T A 13: 11,750,442 (GRCm39) Y1943F probably damaging Het
Slc30a4 C T 2: 122,543,947 (GRCm39) probably benign Het
Slc31a1 A T 4: 62,306,241 (GRCm39) T120S possibly damaging Het
Snrpe A G 1: 133,537,487 (GRCm39) probably benign Het
Stx3 G T 19: 11,796,046 (GRCm39) probably benign Het
Thoc2l A G 5: 104,666,867 (GRCm39) E463G possibly damaging Het
Ufsp1 T A 5: 137,293,178 (GRCm39) C43S probably damaging Het
Vac14 T A 8: 111,379,950 (GRCm39) M416K possibly damaging Het
Vmn1r81 A C 7: 11,993,792 (GRCm39) V272G possibly damaging Het
Vmn2r107 T A 17: 20,578,062 (GRCm39) I457K probably benign Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Vmn2r9 T C 5: 108,995,433 (GRCm39) Y405C probably damaging Het
Zcchc17 T C 4: 130,210,440 (GRCm39) *242W probably null Het
Zfp503 T C 14: 22,037,354 (GRCm39) K83R possibly 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
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
2107:Fam184a UTSW 10 53,517,153 (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
Posted On 2015-04-16