Incidental Mutation 'R6188:Fam151a'
ID 502305
Institutional Source Beutler Lab
Gene Symbol Fam151a
Ensembl Gene ENSMUSG00000034871
Gene Name family with sequence simliarity 151, member A
Synonyms
MMRRC Submission 044328-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6188 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 106591112-106605489 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106602696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 205 (Y205F)
Ref Sequence ENSEMBL: ENSMUSP00000047860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047620] [ENSMUST00000065253] [ENSMUST00000102762] [ENSMUST00000140541]
AlphaFold Q8QZW3
Predicted Effect possibly damaging
Transcript: ENSMUST00000047620
AA Change: Y205F

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000047860
Gene: ENSMUSG00000034871
AA Change: Y205F

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:DUF2181 70 310 2.9e-107 PFAM
Pfam:DUF2181 342 579 8e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000065253
SMART Domains Protein: ENSMUSP00000069636
Gene: ENSMUSG00000034853

DomainStartEndE-ValueType
Pfam:4HBT 84 157 7e-10 PFAM
Pfam:4HBT 255 331 2.6e-13 PFAM
START 405 603 1.49e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102762
SMART Domains Protein: ENSMUSP00000099823
Gene: ENSMUSG00000034853

DomainStartEndE-ValueType
Pfam:4HBT 64 136 7.2e-10 PFAM
Pfam:4HBT 235 311 6.7e-13 PFAM
START 385 583 1.49e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140541
SMART Domains Protein: ENSMUSP00000124567
Gene: ENSMUSG00000034853

DomainStartEndE-ValueType
PDB:3B7K|C 32 71 3e-10 PDB
SCOP:d1lo7a_ 37 69 2e-3 SMART
Meta Mutation Damage Score 0.3053 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,331,850 (GRCm39) I88F possibly damaging Het
4930407I10Rik T C 15: 81,943,471 (GRCm39) S28P probably benign Het
a A T 2: 154,889,602 (GRCm39) N56I probably damaging Het
Apoe C A 7: 19,432,305 (GRCm39) probably benign Het
Aspm C A 1: 139,406,977 (GRCm39) R1955S possibly damaging Het
Boc G A 16: 44,319,911 (GRCm39) L358F possibly damaging Het
Cadm2 A T 16: 66,612,195 (GRCm39) probably null Het
Ccdc183 T C 2: 25,499,764 (GRCm39) E384G probably benign Het
Ccl12 A G 11: 81,993,943 (GRCm39) T67A probably damaging Het
Cep120 T C 18: 53,857,529 (GRCm39) D312G probably benign Het
Cmya5 A G 13: 93,229,952 (GRCm39) V1712A possibly damaging Het
Cmya5 A G 13: 93,233,784 (GRCm39) S435P possibly damaging Het
Dmbt1 A T 7: 130,699,361 (GRCm39) N997Y probably damaging Het
Dock2 T A 11: 34,453,396 (GRCm39) I86F probably damaging Het
Duox1 A G 2: 122,150,275 (GRCm39) Q168R probably benign Het
Epb41l4a T A 18: 33,965,718 (GRCm39) I370L probably benign Het
Erc2 T A 14: 28,039,208 (GRCm39) D950E probably damaging Het
Exoc6b A G 6: 84,832,479 (GRCm39) V405A probably damaging Het
F13a1 T C 13: 37,209,752 (GRCm39) D71G probably benign Het
Fcnb C A 2: 27,969,202 (GRCm39) R165M possibly damaging Het
Fndc3a C T 14: 72,827,401 (GRCm39) V50I probably damaging Het
Gm13276 C T 4: 88,704,096 (GRCm39) Q51* probably null Het
Grik1 T C 16: 87,852,959 (GRCm39) T75A probably benign Het
Grip2 A G 6: 91,740,514 (GRCm39) L1015P probably damaging Het
Hnrnpk A G 13: 58,541,967 (GRCm39) F339L probably benign Het
Iqgap3 A G 3: 88,006,200 (GRCm39) D537G probably benign Het
Kars1 C T 8: 112,735,113 (GRCm39) probably null Het
Kpna7 G T 5: 144,929,654 (GRCm39) N390K probably damaging Het
Krt36 A T 11: 99,993,246 (GRCm39) S410T probably benign Het
Lingo4 A G 3: 94,310,157 (GRCm39) E365G probably damaging Het
Liph T C 16: 21,803,018 (GRCm39) D17G probably benign Het
Lmbrd1 C A 1: 24,750,626 (GRCm39) N166K probably benign Het
Lypd9 T C 11: 58,337,182 (GRCm39) E97G probably benign Het
Nup155 T C 15: 8,139,059 (GRCm39) S44P probably damaging Het
Or2m12 A G 16: 19,105,307 (GRCm39) M62T probably damaging Het
Or4a72 A T 2: 89,405,538 (GRCm39) C177* probably null Het
Or5a3 A G 19: 12,399,974 (GRCm39) I100M probably benign Het
Pcdhga6 T C 18: 37,841,324 (GRCm39) V348A probably benign Het
Phc3 G A 3: 30,991,198 (GRCm39) Q295* probably null Het
Phyh A G 2: 4,932,301 (GRCm39) E129G probably damaging Het
Polb A G 8: 23,137,463 (GRCm39) S96P probably damaging Het
Ppp1r9a A T 6: 5,158,113 (GRCm39) K1174* probably null Het
Ppp1r9b C T 11: 94,882,662 (GRCm39) R97W probably damaging Het
Pttg1ip T C 10: 77,418,342 (GRCm39) probably null Het
Pygm G A 19: 6,447,967 (GRCm39) probably null Het
Rgs20 GGAGAGAG GGAGAG 1: 5,091,106 (GRCm39) probably null Het
Rlf T C 4: 121,027,963 (GRCm39) H111R probably damaging Het
Rmdn3 A G 2: 118,969,831 (GRCm39) probably null Het
Ror2 T A 13: 53,265,347 (GRCm39) T570S probably damaging Het
Sel1l3 A C 5: 53,313,061 (GRCm39) I542R possibly damaging Het
Serpinb3d A G 1: 107,006,237 (GRCm39) F284L probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc38a2 A G 15: 96,590,397 (GRCm39) probably null Het
Spata31e2 T A 1: 26,724,784 (GRCm39) Y132F probably damaging Het
Spata31h1 A G 10: 82,121,091 (GRCm39) I3973T probably damaging Het
Tet2 T C 3: 133,186,087 (GRCm39) S1117G probably benign Het
Trav15-1-dv6-1 C T 14: 53,797,414 (GRCm39) A21V probably damaging Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn1r220 A T 13: 23,368,084 (GRCm39) L204H probably damaging Het
Vmn1r3 A T 4: 3,185,017 (GRCm39) S97T probably damaging Het
Zfp599 A G 9: 22,161,286 (GRCm39) F293S probably damaging Het
Zfp983 A G 17: 21,877,935 (GRCm39) Y46C probably damaging Het
Other mutations in Fam151a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Fam151a APN 4 106,604,790 (GRCm39) missense possibly damaging 0.56
IGL02095:Fam151a APN 4 106,605,072 (GRCm39) missense probably damaging 1.00
IGL02170:Fam151a APN 4 106,592,795 (GRCm39) critical splice donor site probably null
IGL02725:Fam151a APN 4 106,605,211 (GRCm39) missense probably damaging 0.99
R0025:Fam151a UTSW 4 106,605,371 (GRCm39) missense probably benign 0.16
R0114:Fam151a UTSW 4 106,591,201 (GRCm39) missense possibly damaging 0.63
R0620:Fam151a UTSW 4 106,605,128 (GRCm39) missense probably benign 0.06
R1345:Fam151a UTSW 4 106,599,491 (GRCm39) missense probably damaging 0.99
R1482:Fam151a UTSW 4 106,602,876 (GRCm39) missense probably damaging 1.00
R1965:Fam151a UTSW 4 106,591,112 (GRCm39) unclassified probably benign
R2086:Fam151a UTSW 4 106,592,760 (GRCm39) splice site probably null
R4078:Fam151a UTSW 4 106,604,954 (GRCm39) missense probably benign 0.31
R4677:Fam151a UTSW 4 106,605,456 (GRCm39) missense possibly damaging 0.72
R6110:Fam151a UTSW 4 106,605,395 (GRCm39) missense probably damaging 0.98
R6288:Fam151a UTSW 4 106,605,341 (GRCm39) missense probably damaging 0.99
R6526:Fam151a UTSW 4 106,591,201 (GRCm39) missense possibly damaging 0.63
R7298:Fam151a UTSW 4 106,592,725 (GRCm39) missense possibly damaging 0.80
R7341:Fam151a UTSW 4 106,592,707 (GRCm39) missense probably benign 0.00
R7363:Fam151a UTSW 4 106,602,681 (GRCm39) missense probably damaging 1.00
R7573:Fam151a UTSW 4 106,600,502 (GRCm39) missense probably damaging 1.00
R8368:Fam151a UTSW 4 106,604,190 (GRCm39) missense probably benign 0.03
R8464:Fam151a UTSW 4 106,605,102 (GRCm39) missense probably benign 0.04
R8503:Fam151a UTSW 4 106,603,377 (GRCm39) missense possibly damaging 0.78
R8822:Fam151a UTSW 4 106,602,842 (GRCm39) missense probably benign 0.12
R8840:Fam151a UTSW 4 106,602,819 (GRCm39) missense probably benign 0.06
R8927:Fam151a UTSW 4 106,603,242 (GRCm39) unclassified probably benign
R9062:Fam151a UTSW 4 106,605,306 (GRCm39) missense probably benign 0.01
R9076:Fam151a UTSW 4 106,603,254 (GRCm39) missense probably damaging 1.00
R9140:Fam151a UTSW 4 106,605,344 (GRCm39) nonsense probably null
R9663:Fam151a UTSW 4 106,604,894 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- GACTGCACAGGGTGGTGATATC -3'
(R):5'- CACCTCTCAGATTGGCTCAGAAG -3'

Sequencing Primer
(F):5'- TATCAGCAGGAGGATGTACAAATCAC -3'
(R):5'- CTCAGAAGCCAGCTGAAGTG -3'
Posted On 2018-02-27