Incidental Mutation 'R5176:Fam187a'
ID 399328
Institutional Source Beutler Lab
Gene Symbol Fam187a
Ensembl Gene ENSMUSG00000075510
Gene Name family with sequence similarity 187, member A
Synonyms 4933439F11Rik
MMRRC Submission 042756-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R5176 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 102775995-102777557 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102777290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 365 (R365C)
Ref Sequence ENSEMBL: ENSMUSP00000097938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021307] [ENSMUST00000067444] [ENSMUST00000077902] [ENSMUST00000100369] [ENSMUST00000159834]
AlphaFold Q9D3R5
Predicted Effect probably benign
Transcript: ENSMUST00000021307
SMART Domains Protein: ENSMUSP00000021307
Gene: ENSMUSG00000020930

DomainStartEndE-ValueType
Pfam:Dynein_attach_N 7 74 3.3e-32 PFAM
Pfam:RPAP3_C 98 188 1.2e-19 PFAM
low complexity region 219 233 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000067444
SMART Domains Protein: ENSMUSP00000064691
Gene: ENSMUSG00000020932

DomainStartEndE-ValueType
Pfam:Filament_head 2 64 1.7e-8 PFAM
Filament 65 373 2.34e-136 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077902
SMART Domains Protein: ENSMUSP00000077061
Gene: ENSMUSG00000020932

DomainStartEndE-ValueType
Pfam:Filament_head 1 64 1.6e-7 PFAM
Pfam:Filament 65 373 1e-112 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100369
AA Change: R365C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097938
Gene: ENSMUSG00000075510
AA Change: R365C

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 39 142 3.73e0 SMART
IG_like 275 361 1.61e1 SMART
transmembrane domain 377 399 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159834
SMART Domains Protein: ENSMUSP00000125214
Gene: ENSMUSG00000020930

DomainStartEndE-ValueType
coiled coil region 8 33 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181125
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 C A 10: 79,834,123 (GRCm39) H116Q probably benign Het
Akap12 G T 10: 4,303,947 (GRCm39) E252D probably benign Het
Apobr A G 7: 126,184,188 (GRCm39) D2G probably damaging Het
Arhgef12 A T 9: 42,931,982 (GRCm39) H168Q probably damaging Het
Asb3 T A 11: 31,031,357 (GRCm39) probably null Het
Brip1 T C 11: 85,968,710 (GRCm39) Y825C probably damaging Het
Cacna1b A T 2: 24,525,143 (GRCm39) Y1679N probably damaging Het
Ccdc69 C T 11: 54,951,296 (GRCm39) A42T probably benign Het
Cds1 G T 5: 101,929,286 (GRCm39) D55Y possibly damaging Het
Cep135 C A 5: 76,784,873 (GRCm39) D989E probably benign Het
Cpsf6 C A 10: 117,197,189 (GRCm39) probably benign Het
Ctif C T 18: 75,770,290 (GRCm39) V32M probably damaging Het
Cylc2 T C 4: 51,228,587 (GRCm39) probably benign Het
Dao T C 5: 114,158,070 (GRCm39) probably null Het
Dop1a T A 9: 86,403,868 (GRCm39) N1689K probably damaging Het
Dop1b A G 16: 93,536,931 (GRCm39) Y14C probably damaging Het
Fastkd2 A G 1: 63,770,598 (GRCm39) probably benign Het
Fhip2a A G 19: 57,359,613 (GRCm39) N51S probably damaging Het
Fkbp15 G T 4: 62,230,560 (GRCm39) L718I possibly damaging Het
Gabbr2 C A 4: 46,681,208 (GRCm39) V118F probably damaging Het
Gm13991 T A 2: 116,358,508 (GRCm39) noncoding transcript Het
H2-M9 T C 17: 36,952,523 (GRCm39) I174M probably damaging Het
Ift70a2 T C 2: 75,807,421 (GRCm39) M364V probably benign Het
Insr T A 8: 3,208,742 (GRCm39) M1240L probably benign Het
Ints15 G T 5: 143,300,830 (GRCm39) S7* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Mad2l1bp T A 17: 46,463,738 (GRCm39) E95D probably benign Het
Marchf9 T C 10: 126,895,319 (GRCm39) D102G probably benign Het
Muc19 A G 15: 91,776,374 (GRCm39) noncoding transcript Het
Nr1h4 T A 10: 89,334,117 (GRCm39) Y91F probably benign Het
Nr5a2 A T 1: 136,876,540 (GRCm39) M1K probably null Het
Oprd1 T C 4: 131,841,104 (GRCm39) T285A probably benign Het
Optc T C 1: 133,829,822 (GRCm39) N196S probably benign Het
Or51f5 T A 7: 102,424,513 (GRCm39) S261T probably damaging Het
Or5g29 A C 2: 85,421,779 (GRCm39) K298N possibly damaging Het
Or7g21 A T 9: 19,032,656 (GRCm39) Y132F probably damaging Het
Panx2 G T 15: 88,944,431 (GRCm39) R52L probably damaging Het
Pdzd8 A G 19: 59,333,389 (GRCm39) F211L probably damaging Het
Pot1b T A 17: 56,006,995 (GRCm39) T41S probably benign Het
Prss56 T C 1: 87,111,880 (GRCm39) L37S probably damaging Het
Ptk2b T C 14: 66,393,864 (GRCm39) T870A probably damaging Het
Rabep2 C A 7: 126,033,465 (GRCm39) probably benign Het
Rbm48 A C 5: 3,645,444 (GRCm39) V80G probably damaging Het
Rhou G T 8: 124,380,848 (GRCm39) C55F possibly damaging Het
Rnaseh2c A G 19: 5,652,070 (GRCm39) D45G probably benign Het
Rusc1 A G 3: 88,996,389 (GRCm39) S109P probably damaging Het
Ryr3 T C 2: 112,588,012 (GRCm39) D2643G possibly damaging Het
Septin4 T A 11: 87,458,358 (GRCm39) M244K probably benign Het
Sik2 T C 9: 50,810,703 (GRCm39) E471G probably benign Het
Sipa1 A G 19: 5,709,406 (GRCm39) S310P probably damaging Het
Sp140l1 C T 1: 85,066,521 (GRCm39) probably benign Het
Spen T C 4: 141,203,587 (GRCm39) E1680G unknown Het
Steap3 C T 1: 120,171,497 (GRCm39) probably null Het
Tmeff2 T A 1: 51,110,700 (GRCm39) C171* probably null Het
Tmem138 A T 19: 10,552,634 (GRCm39) M33K probably benign Het
Trappc11 C A 8: 47,963,998 (GRCm39) V601L possibly damaging Het
Ttll4 C A 1: 74,718,445 (GRCm39) H99N probably damaging Het
Uchl4 A T 9: 64,143,022 (GRCm39) K168* probably null Het
Wdr17 C T 8: 55,106,913 (GRCm39) probably null Het
Xpo1 A G 11: 23,245,977 (GRCm39) D1029G probably damaging Het
Zfp719 G T 7: 43,240,549 (GRCm39) K712N probably damaging Het
Other mutations in Fam187a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02569:Fam187a APN 11 102,776,985 (GRCm39) missense probably benign 0.04
IGL02886:Fam187a APN 11 102,777,380 (GRCm39) missense probably benign 0.00
R1735:Fam187a UTSW 11 102,776,606 (GRCm39) missense probably damaging 1.00
R1864:Fam187a UTSW 11 102,776,837 (GRCm39) missense probably damaging 1.00
R2258:Fam187a UTSW 11 102,776,124 (GRCm39) unclassified probably benign
R2259:Fam187a UTSW 11 102,776,124 (GRCm39) unclassified probably benign
R2424:Fam187a UTSW 11 102,776,780 (GRCm39) missense probably damaging 1.00
R3753:Fam187a UTSW 11 102,776,675 (GRCm39) missense probably benign 0.00
R4206:Fam187a UTSW 11 102,777,038 (GRCm39) missense probably damaging 0.97
R6011:Fam187a UTSW 11 102,776,267 (GRCm39) missense probably damaging 1.00
R6520:Fam187a UTSW 11 102,776,701 (GRCm39) missense possibly damaging 0.52
R6683:Fam187a UTSW 11 102,777,015 (GRCm39) missense probably damaging 1.00
R7309:Fam187a UTSW 11 102,776,832 (GRCm39) missense probably damaging 1.00
R7605:Fam187a UTSW 11 102,776,874 (GRCm39) missense possibly damaging 0.58
R8352:Fam187a UTSW 11 102,777,400 (GRCm39) nonsense probably null
R8452:Fam187a UTSW 11 102,777,400 (GRCm39) nonsense probably null
R9043:Fam187a UTSW 11 102,776,685 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TAGGTCACGGCCTCATCATC -3'
(R):5'- TGGTCGTCACAGCTAGAGAAG -3'

Sequencing Primer
(F):5'- ATGCTGTGGCCTGGGACAAG -3'
(R):5'- TCGTCACAGCTAGAGAAGGGTTTG -3'
Posted On 2016-07-06