Incidental Mutation 'R7943:Fam184a'
ID 649167
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 045989-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R7943 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 53509241-53627219 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 53509802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 126 (E126*)
Ref Sequence ENSEMBL: ENSMUSP00000151765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020003] [ENSMUST00000075540] [ENSMUST00000163761] [ENSMUST00000164393] [ENSMUST00000169866] [ENSMUST00000217939] [ENSMUST00000171807] [ENSMUST00000218659] [ENSMUST00000218682] [ENSMUST00000219838]
AlphaFold E9PW83
Predicted Effect probably damaging
Transcript: ENSMUST00000020003
AA Change: Q1120H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: Q1120H

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: ENSMUST00000075540
SMART Domains Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298

DomainStartEndE-ValueType
low complexity region 22 44 N/A INTRINSIC
low complexity region 62 79 N/A INTRINSIC
low complexity region 81 111 N/A INTRINSIC
MCM 268 761 9.44e-116 SMART
AAA 500 649 2.43e-6 SMART
coiled coil region 789 817 N/A INTRINSIC
low complexity region 884 895 N/A INTRINSIC
low complexity region 1004 1028 N/A INTRINSIC
low complexity region 1045 1056 N/A INTRINSIC
low complexity region 1199 1216 N/A INTRINSIC
low complexity region 1219 1232 N/A INTRINSIC
low complexity region 1246 1255 N/A INTRINSIC
low complexity region 1262 1276 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163761
AA Change: Q980H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: Q980H

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: ENSMUST00000164393
AA Change: Q46H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000165986
SMART Domains Protein: ENSMUSP00000128132
Gene: ENSMUSG00000019856

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 probably benign
Transcript: ENSMUST00000169866
AA Change: R142I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000128426
Gene: ENSMUSG00000019856
AA Change: R142I

DomainStartEndE-ValueType
coiled coil region 18 41 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000217939
AA Change: E126*
Predicted Effect probably damaging
Transcript: ENSMUST00000171807
AA Change: Q667H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856
AA Change: Q667H

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: ENSMUST00000218549
Predicted Effect probably benign
Transcript: ENSMUST00000218659
Predicted Effect probably benign
Transcript: ENSMUST00000218682
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000219838
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
Allele List at MGI

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

Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a C T 5: 8,736,222 (GRCm39) T205I probably benign Het
Acsbg1 T C 9: 54,530,021 (GRCm39) H225R probably damaging Het
Anks1 T A 17: 28,204,178 (GRCm39) Y209N probably damaging Het
Appl1 T A 14: 26,667,525 (GRCm39) I377L probably benign Het
Arl9 A T 5: 77,158,395 (GRCm39) D159V probably damaging Het
Arsa A C 15: 89,358,292 (GRCm39) L339R probably damaging Het
C2 A G 17: 35,091,354 (GRCm39) L380P probably damaging Het
Ccdc13 A G 9: 121,628,196 (GRCm39) C97R unknown Het
Ccdc74a A G 16: 17,468,416 (GRCm39) H346R probably benign Het
Ccnl1 T C 3: 65,864,326 (GRCm39) I152V probably benign Het
Cd4 C T 6: 124,847,207 (GRCm39) probably null Het
Ceacam5 A T 7: 17,479,491 (GRCm39) I203L probably benign Het
Ckap2 C A 8: 22,665,090 (GRCm39) R458L probably damaging Het
Cldn10 T C 14: 119,099,271 (GRCm39) probably null Het
Col27a1 C T 4: 63,236,520 (GRCm39) R1377C unknown Het
Cry1 A T 10: 84,978,984 (GRCm39) M514K probably benign Het
Crybg2 T G 4: 133,800,295 (GRCm39) V176G probably damaging Het
Cyp2j5 C T 4: 96,547,849 (GRCm39) G131D possibly damaging Het
Ddx46 A G 13: 55,817,535 (GRCm39) Y720C probably damaging Het
Dock10 A T 1: 80,626,006 (GRCm39) V44D probably damaging Het
Eif1ad8 C T 12: 87,563,773 (GRCm39) A36V probably damaging Het
Enam A T 5: 88,636,410 (GRCm39) probably null Het
Fbxw10 A T 11: 62,741,487 (GRCm39) R202* probably null Het
Fnip1 A G 11: 54,393,214 (GRCm39) E550G probably damaging Het
Gpr149 A G 3: 62,438,132 (GRCm39) L675P probably damaging Het
Hivep3 T C 4: 119,989,554 (GRCm39) Y2002H probably benign Het
Hp A G 8: 110,302,187 (GRCm39) Y254H probably damaging Het
Ighg1 G T 12: 113,293,957 (GRCm39) T62N Het
Jcad A G 18: 4,672,700 (GRCm39) E154G probably damaging Het
Kmt2a A G 9: 44,760,437 (GRCm39) S471P probably damaging Het
Med13 A G 11: 86,169,352 (GRCm39) V1968A probably damaging Het
Mknk2 T A 10: 80,511,701 (GRCm39) Q3L probably benign Het
Nup98 G A 7: 101,844,029 (GRCm39) T65I probably benign Het
Or10p21 T A 10: 128,847,934 (GRCm39) M260K possibly damaging Het
Or51f1e G A 7: 102,747,153 (GRCm39) M68I probably damaging Het
Or5m11 A G 2: 85,782,342 (GRCm39) T312A probably benign Het
Or9i14 A T 19: 13,792,600 (GRCm39) M118K probably damaging Het
Pcdhgb4 C T 18: 37,855,063 (GRCm39) T486I probably benign Het
Perm1 T A 4: 156,302,991 (GRCm39) F512I probably damaging Het
Pgap3 A T 11: 98,281,227 (GRCm39) L262Q probably damaging Het
Pklr A C 3: 89,048,814 (GRCm39) Y126S probably damaging Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Ppm1k T C 6: 57,501,813 (GRCm39) T117A probably benign Het
Prkd2 G A 7: 16,584,244 (GRCm39) E366K probably benign Het
Psd C A 19: 46,313,169 (GRCm39) C67F possibly damaging Het
Ptpra T A 2: 30,322,056 (GRCm39) F100L probably damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rock1 T C 18: 10,112,357 (GRCm39) E466G probably damaging Het
Sec16b A T 1: 157,382,327 (GRCm39) M588L probably benign Het
Serpina1f T A 12: 103,659,949 (GRCm39) H111L probably damaging Het
Sf3a1 T C 11: 4,116,537 (GRCm39) I76T possibly damaging Het
Shcbp1 A T 8: 4,798,812 (GRCm39) L369Q possibly damaging Het
Spef2 A G 15: 9,601,171 (GRCm39) M1697T unknown Het
St7 G A 6: 17,844,911 (GRCm39) C133Y probably damaging Het
Tdpoz6 A T 3: 93,600,070 (GRCm39) C100S probably benign Het
Tex19.1 T A 11: 121,037,986 (GRCm39) W115R possibly damaging Het
Tfrc T A 16: 32,449,039 (GRCm39) I726N probably benign Het
Thbs1 A G 2: 117,950,098 (GRCm39) probably null Het
Trim43a C T 9: 88,464,238 (GRCm39) P50S probably benign Het
Trpm4 A T 7: 44,958,105 (GRCm39) V935E probably damaging Het
Ttc12 A T 9: 49,381,620 (GRCm39) V117D possibly damaging Het
Ulbp1 T C 10: 7,407,053 (GRCm39) T82A probably damaging Het
Usp13 C T 3: 32,931,089 (GRCm39) H288Y probably damaging Het
Vmn2r82 A G 10: 79,232,079 (GRCm39) K693E possibly damaging Het
Vmn2r90 A G 17: 17,932,566 (GRCm39) T158A probably damaging Het
Vps8 A G 16: 21,296,622 (GRCm39) K540R possibly damaging Het
Zfp143 T A 7: 109,671,681 (GRCm39) probably null Het
Zfp709 G T 8: 72,643,933 (GRCm39) C454F 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
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
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'- GCATTTTCAAATCGGAGAGACAAAC -3'
(R):5'- GAGTTCATGTGAGCTGCCACTG -3'

Sequencing Primer
(F):5'- TCGGAGAGACAAACACTTTCTCATTC -3'
(R):5'- ATGTGAGCTGCCACTGGAACTC -3'
Posted On 2020-09-15