Incidental Mutation 'IGL02493:Fam184a'
ID 295753
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 # IGL02493
Quality Score
Status
Chromosome 10
Chromosomal Location 53509241-53627219 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 53570789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020003] [ENSMUST00000020003] [ENSMUST00000020003] [ENSMUST00000020003] [ENSMUST00000163761] [ENSMUST00000163761] [ENSMUST00000163761] [ENSMUST00000163761] [ENSMUST00000171807] [ENSMUST00000171807] [ENSMUST00000171807] [ENSMUST00000171807]
AlphaFold E9PW83
Predicted Effect probably null
Transcript: ENSMUST00000020003
SMART Domains Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856

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 null
Transcript: ENSMUST00000020003
SMART Domains Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856

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 null
Transcript: ENSMUST00000020003
SMART Domains Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856

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 null
Transcript: ENSMUST00000020003
SMART Domains Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856

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 null
Transcript: ENSMUST00000163761
SMART Domains Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856

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 null
Transcript: ENSMUST00000163761
SMART Domains Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856

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 null
Transcript: ENSMUST00000163761
SMART Domains Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856

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 null
Transcript: ENSMUST00000163761
SMART Domains Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856

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 null
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
Predicted Effect probably null
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
Predicted Effect probably null
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
Predicted Effect probably null
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
4933412E24Rik T G 15: 59,888,312 (GRCm39) S43R probably benign Het
Afap1l1 G T 18: 61,870,594 (GRCm39) Q595K possibly damaging Het
Alpk2 T C 18: 65,483,402 (GRCm39) E202G probably benign Het
Ap3b1 T C 13: 94,540,528 (GRCm39) V150A probably damaging Het
Bcas3 T C 11: 85,386,708 (GRCm39) I381T probably damaging Het
Best3 A T 10: 116,860,506 (GRCm39) R589W possibly damaging Het
Birc6 A G 17: 74,959,054 (GRCm39) probably benign Het
Clcn4 A C 7: 7,287,243 (GRCm39) D728E probably damaging Het
Commd2 C A 3: 57,559,080 (GRCm39) probably benign Het
Csrp1 T A 1: 135,678,801 (GRCm39) F175L probably damaging Het
Eif3c A T 7: 126,158,073 (GRCm39) N294K probably damaging Het
Fndc1 G T 17: 7,994,377 (GRCm39) P297Q unknown Het
Galnt13 A G 2: 54,770,149 (GRCm39) I314V probably benign Het
Gimap6 T A 6: 48,679,603 (GRCm39) K144N probably damaging Het
Gm10188 A T 1: 132,157,143 (GRCm39) C74* probably null Het
Gpatch2 C T 1: 186,965,325 (GRCm39) probably benign Het
Hace1 T A 10: 45,464,515 (GRCm39) M39K probably damaging Het
Has2 G T 15: 56,531,320 (GRCm39) T465K probably damaging Het
Homer3 T A 8: 70,742,721 (GRCm39) V144D probably benign Het
Ift140 A T 17: 25,306,898 (GRCm39) K878* probably null Het
Ikbip A G 10: 90,932,456 (GRCm39) N367D probably damaging Het
Immt T C 6: 71,821,700 (GRCm39) probably benign Het
Isca1 A G 13: 59,910,596 (GRCm39) V32A possibly damaging Het
Kcnu1 T A 8: 26,427,548 (GRCm39) N288K possibly damaging Het
Kmt2b C T 7: 30,268,936 (GRCm39) probably benign Het
Lrguk T A 6: 34,106,127 (GRCm39) D717E probably benign Het
Lrp1 C T 10: 127,417,647 (GRCm39) G1037E probably damaging Het
Man2a2 T A 7: 80,019,363 (GRCm39) Q37L possibly damaging Het
Msh4 C T 3: 153,583,545 (GRCm39) probably null Het
Mtf1 C T 4: 124,715,112 (GRCm39) R246W probably damaging Het
Mvb12b A G 2: 33,730,221 (GRCm39) S57P probably benign Het
Nat8f5 A G 6: 85,794,544 (GRCm39) F139L probably benign Het
Npepps A G 11: 97,128,985 (GRCm39) F400L probably damaging Het
Ntsr2 T A 12: 16,708,390 (GRCm39) S248T possibly damaging Het
Oplah G A 15: 76,185,155 (GRCm39) R853* probably null Het
Or5b98 T C 19: 12,931,138 (GRCm39) F62L probably benign Het
Or5p57 A T 7: 107,665,012 (GRCm39) M331K possibly damaging Het
Plekhh2 G A 17: 84,914,391 (GRCm39) probably null Het
Pskh1 G A 8: 106,656,388 (GRCm39) V355I probably benign Het
Rab31 A T 17: 66,024,547 (GRCm39) M44K possibly damaging Het
Slc5a4b A G 10: 75,910,849 (GRCm39) V329A probably damaging Het
Slc5a7 A G 17: 54,600,908 (GRCm39) Y76H probably damaging Het
Trappc14 T C 5: 138,261,432 (GRCm39) probably null Het
Treh A T 9: 44,594,246 (GRCm39) D164V possibly damaging Het
Trim6 A G 7: 103,881,847 (GRCm39) Y366C probably benign Het
Ubr7 T C 12: 102,734,479 (GRCm39) V251A probably benign Het
Vmn1r35 T A 6: 66,656,463 (GRCm39) N69I possibly damaging Het
Zan A G 5: 137,433,968 (GRCm39) L2255P unknown 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
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