Incidental Mutation 'R2202:Fam184a'
ID 238759
Institutional Source Beutler Lab
Gene Symbol Fam184a
Ensembl Gene ENSMUSG00000019856
Gene Name family with sequence similarity 184, member A
Synonyms 3110012E06Rik, 4930589M24Rik, 4930438C08Rik
MMRRC Submission 040204-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R2202 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 53509241-53627219 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53528530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 29 (Q29L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020003] [ENSMUST00000163761] [ENSMUST00000171807] [ENSMUST00000217939] [ENSMUST00000218682] [ENSMUST00000218659]
AlphaFold E9PW83
Predicted Effect probably benign
Transcript: ENSMUST00000020003
AA Change: Q777L

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: Q777L

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: Q721L

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: Q721L

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 damaging
Transcript: ENSMUST00000165986
AA Change: Q29L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128132
Gene: ENSMUSG00000019856
AA Change: Q29L

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 benign
Transcript: ENSMUST00000171807
AA Change: Q373L

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856
AA Change: Q373L

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 benign
Transcript: ENSMUST00000217939
Predicted Effect probably benign
Transcript: ENSMUST00000218682
AA Change: Q174L

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000218659
Predicted Effect probably benign
Transcript: ENSMUST00000218780
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,056,011 (GRCm39) V249A possibly damaging Het
9930111J21Rik2 C G 11: 48,910,149 (GRCm39) L761F probably damaging Het
Abca1 G A 4: 53,090,291 (GRCm39) T386I probably damaging Het
Abca14 T C 7: 119,888,764 (GRCm39) Y1237H probably benign Het
Abi3bp C T 16: 56,471,088 (GRCm39) R578* probably null Het
Abi3bp T G 16: 56,433,566 (GRCm39) L550R probably benign Het
Adamts7 A T 9: 90,062,729 (GRCm39) K394N probably damaging Het
Ahdc1 A G 4: 132,793,220 (GRCm39) E1487G possibly damaging Het
AI987944 T C 7: 41,023,950 (GRCm39) E343G probably damaging Het
Ankrd26 T A 6: 118,500,843 (GRCm39) H876L possibly damaging Het
Atg16l1 A C 1: 87,694,737 (GRCm39) Q138P probably benign Het
Atp1b1 G T 1: 164,281,084 (GRCm39) T11K probably benign Het
Calr3 A G 8: 73,188,683 (GRCm39) L40S probably damaging Het
Ccar1 A C 10: 62,581,066 (GRCm39) D1119E unknown Het
Cdan1 C A 2: 120,551,241 (GRCm39) C1093F probably damaging Het
Cdk12 T G 11: 98,101,464 (GRCm39) S441A unknown Het
Ces4a T A 8: 105,872,746 (GRCm39) V333E probably damaging Het
Cfap61 T C 2: 146,056,600 (GRCm39) L1193P probably damaging Het
Chd2 A T 7: 73,128,416 (GRCm39) D856E probably benign Het
Chil3 T C 3: 106,071,562 (GRCm39) D34G probably benign Het
Cln3 T A 7: 126,178,390 (GRCm39) H211L probably benign Het
Cpa1 A G 6: 30,641,818 (GRCm39) D214G probably damaging Het
Cttnbp2 T G 6: 18,408,693 (GRCm39) D976A probably benign Het
Dcstamp T A 15: 39,617,708 (GRCm39) V39E probably damaging Het
Dicer1 C T 12: 104,697,297 (GRCm39) V87M possibly damaging Het
Duox1 A G 2: 122,175,194 (GRCm39) T1331A probably benign Het
Elapor1 C T 3: 108,382,359 (GRCm39) G270E probably damaging Het
Fcer2a T C 8: 3,738,557 (GRCm39) E60G possibly damaging Het
Flnc C T 6: 29,459,507 (GRCm39) P2536S probably damaging Het
Fnbp1l A T 3: 122,340,611 (GRCm39) M463K probably benign Het
Garem2 A G 5: 30,319,762 (GRCm39) D408G probably benign Het
Gm6370 T A 5: 146,430,539 (GRCm39) D241E probably benign Het
Gpc3 T A X: 51,486,083 (GRCm39) I344F probably damaging Het
Gtf2e1 T A 16: 37,331,904 (GRCm39) E390D possibly damaging Het
Hmgcs2 T A 3: 98,198,499 (GRCm39) I134N probably damaging Het
Il15ra T A 2: 11,723,155 (GRCm39) probably null Het
Ints8 A T 4: 11,225,712 (GRCm39) M615K possibly damaging Het
Irak1 G A X: 73,060,744 (GRCm39) T193I probably damaging Het
Jmjd1c A G 10: 67,075,242 (GRCm39) probably null Het
Knstrn T A 2: 118,661,456 (GRCm39) probably null Het
Letm1 C A 5: 33,926,830 (GRCm39) V156L possibly damaging Het
Lrrc24 G A 15: 76,607,111 (GRCm39) P95L probably damaging Het
Map2k2 T C 10: 80,955,213 (GRCm39) S14P probably damaging Het
Me3 T C 7: 89,499,589 (GRCm39) Y535H probably damaging Het
Nfatc2ip T C 7: 125,990,467 (GRCm39) E178G probably benign Het
Nop56 T A 2: 130,119,488 (GRCm39) I51N probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Nudt5 A T 2: 5,860,794 (GRCm39) I22F possibly damaging Het
Or10a2 T A 7: 106,673,523 (GRCm39) W163R probably damaging Het
Or2m12 C T 16: 19,105,047 (GRCm39) A149T probably benign Het
Or4p23 C G 2: 88,576,953 (GRCm39) G93A probably benign Het
Pbrm1 A G 14: 30,754,406 (GRCm39) D142G possibly damaging Het
Pdcl A T 2: 37,242,056 (GRCm39) N231K probably benign Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pid1 T A 1: 84,016,159 (GRCm39) I69F probably damaging Het
Pkhd1 A G 1: 20,607,584 (GRCm39) S1091P probably benign Het
Plcb4 T C 2: 135,844,514 (GRCm39) I144T probably benign Het
Plxnd1 T C 6: 115,939,725 (GRCm39) N1418S probably benign Het
Pmm1 T C 15: 81,840,601 (GRCm39) T82A probably benign Het
Prrc2b C A 2: 32,113,476 (GRCm39) Q1970K probably damaging Het
Ptprz1 C T 6: 23,000,649 (GRCm39) T913M possibly damaging Het
Ralgapa1 T C 12: 55,659,585 (GRCm39) probably null Het
Rbm8a2 T C 1: 175,806,420 (GRCm39) E19G possibly damaging Het
Rgs3 T C 4: 62,608,741 (GRCm39) S336P probably damaging Het
Saxo5 A T 8: 3,529,028 (GRCm39) D201V probably benign Het
Serpina11 G T 12: 103,952,233 (GRCm39) T179K probably damaging Het
Serpina1f T C 12: 103,659,655 (GRCm39) N209S possibly damaging Het
Serpinf2 G A 11: 75,327,588 (GRCm39) T159I probably benign Het
Slc19a1 T C 10: 76,877,758 (GRCm39) C98R possibly damaging Het
Slc22a20 A T 19: 6,021,553 (GRCm39) I483N possibly damaging Het
Spata31d1d A G 13: 59,879,435 (GRCm39) C34R possibly damaging Het
Stoml2 G T 4: 43,030,243 (GRCm39) Y119* probably null Het
Susd1 A G 4: 59,349,843 (GRCm39) L531P possibly damaging Het
Timd5 A G 11: 46,419,394 (GRCm39) N70S probably benign Het
Tln1 C T 4: 43,553,083 (GRCm39) probably null Het
Tmem39b A C 4: 129,587,716 (GRCm39) S32A probably benign Het
Tmx3 T C 18: 90,546,037 (GRCm39) F206S probably damaging Het
Tnfsf14 T C 17: 57,497,638 (GRCm39) D198G possibly damaging Het
Trappc10 A G 10: 78,034,876 (GRCm39) probably null Het
Tssk2 A G 16: 17,716,603 (GRCm39) D2G possibly damaging Het
Ttn T C 2: 76,601,985 (GRCm39) N18559S possibly damaging Het
Ube3b G A 5: 114,527,135 (GRCm39) V118M probably damaging Het
Vmn1r23 T C 6: 57,903,604 (GRCm39) D58G probably benign Het
Vmn2r53 T A 7: 12,335,366 (GRCm39) Y98F probably damaging Het
Vmn2r58 T A 7: 41,513,594 (GRCm39) N350Y probably benign Het
Vmn2r82 A T 10: 79,192,519 (GRCm39) H32L probably benign Het
Wsb1 T C 11: 79,131,212 (GRCm39) I395V probably benign Het
Zbtb47 A G 9: 121,591,703 (GRCm39) T8A possibly damaging Het
Zfat T C 15: 68,051,709 (GRCm39) D695G probably benign Het
Zfp358 G T 8: 3,546,995 (GRCm39) V526F possibly damaging Het
Zmat1 A G X: 133,873,861 (GRCm39) L476P 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
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
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
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
Predicted Primers PCR Primer
(F):5'- ACGACTTGATGCTTTCAGTTG -3'
(R):5'- ACAGCAGAATGTTTTGAGCCAG -3'

Sequencing Primer
(F):5'- CTTTCAGTTGACATTTACAGTGGAG -3'
(R):5'- GAATGTTTTGAGCCAGACTGATTTC -3'
Posted On 2014-10-02