Incidental Mutation 'R1482:Fam151a'
ID 164435
Institutional Source Beutler Lab
Gene Symbol Fam151a
Ensembl Gene ENSMUSG00000034871
Gene Name family with sequence simliarity 151, member A
Synonyms
MMRRC Submission 039535-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1482 (G1)
Quality Score 162
Status Not validated
Chromosome 4
Chromosomal Location 106591112-106605489 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106602876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 265 (L265P)
Ref Sequence ENSEMBL: ENSMUSP00000047860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047620] [ENSMUST00000065253] [ENSMUST00000102762] [ENSMUST00000140541]
AlphaFold Q8QZW3
Predicted Effect probably damaging
Transcript: ENSMUST00000047620
AA Change: L265P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047860
Gene: ENSMUSG00000034871
AA Change: L265P

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 93.8%
  • 20x: 83.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik G A 19: 3,767,192 (GRCm39) D260N probably benign Het
Ankef1 A T 2: 136,392,078 (GRCm39) K422N possibly damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Aqp6 A T 15: 99,502,188 (GRCm39) *294C probably null Het
Baz2a T A 10: 127,944,877 (GRCm39) M38K possibly damaging Het
Bcl2l14 A G 6: 134,404,265 (GRCm39) D151G probably damaging Het
Cabp5 T A 7: 13,132,267 (GRCm39) L12* probably null Het
Cachd1 T C 4: 100,845,795 (GRCm39) V993A possibly damaging Het
Cd44 G A 2: 102,661,728 (GRCm39) T306I probably damaging Het
Cdc20 A T 4: 118,294,253 (GRCm39) N22K probably benign Het
Cdc6 T A 11: 98,807,807 (GRCm39) D433E possibly damaging Het
Clhc1 A G 11: 29,503,725 (GRCm39) D47G probably damaging Het
Csf2 T C 11: 54,139,389 (GRCm39) K65E probably benign Het
Cul9 T C 17: 46,819,473 (GRCm39) E2005G probably damaging Het
Dclk3 G T 9: 111,296,888 (GRCm39) R144L possibly damaging Het
Dcpp2 C T 17: 24,119,516 (GRCm39) T110I probably damaging Het
Disp1 A T 1: 182,868,038 (GRCm39) F1461I possibly damaging Het
Dnah1 C T 14: 31,016,831 (GRCm39) G1562D probably damaging Het
Ecpas T C 4: 58,820,163 (GRCm39) K1217E possibly damaging Het
Exoc3l2 C A 7: 19,229,284 (GRCm39) P234Q probably damaging Het
F2rl2 T C 13: 95,838,047 (GRCm39) V364A probably benign Het
Fam151b T A 13: 92,586,674 (GRCm39) Q253L probably benign Het
Fat1 G A 8: 45,406,281 (GRCm39) V1011M probably benign Het
Fbxo6 G A 4: 148,230,441 (GRCm39) R274* probably null Het
Fgd4 G T 16: 16,302,337 (GRCm39) Q73K probably benign Het
Fth1 A G 19: 9,962,217 (GRCm39) T154A probably benign Het
Hgs C A 11: 120,370,866 (GRCm39) H572Q probably benign Het
Kcnk10 G A 12: 98,456,207 (GRCm39) T208I probably damaging Het
Kdm5b G A 1: 134,552,635 (GRCm39) V1204M probably damaging Het
Keg1 A C 19: 12,696,185 (GRCm39) H166P probably damaging Het
Kifap3 A T 1: 163,653,428 (GRCm39) N338I possibly damaging Het
Llcfc1 A T 6: 41,662,218 (GRCm39) D74V probably damaging Het
Lman2 A G 13: 55,499,218 (GRCm39) V219A possibly damaging Het
Mettl25 A G 10: 105,662,451 (GRCm39) I173T possibly damaging Het
Mov10 G T 3: 104,711,862 (GRCm39) P170Q probably damaging Het
Mtif2 G T 11: 29,486,847 (GRCm39) A286S probably damaging Het
Mtmr10 A G 7: 63,963,997 (GRCm39) Y244C probably damaging Het
Nbea A T 3: 55,987,414 (GRCm39) C359S probably damaging Het
Nbr1 C T 11: 101,463,667 (GRCm39) T633I probably benign Het
Nepn A T 10: 52,276,512 (GRCm39) T22S probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Oacyl T A 18: 65,871,043 (GRCm39) L342M probably damaging Het
Or2ag17 A G 7: 106,389,540 (GRCm39) F223L probably benign Het
Or52b2 T A 7: 104,986,463 (GRCm39) R153S probably damaging Het
Or6c205 T A 10: 129,087,012 (GRCm39) I203N possibly damaging Het
Or7e176 G A 9: 20,172,020 (GRCm39) V295I possibly damaging Het
Oxnad1 T C 14: 31,821,590 (GRCm39) probably null Het
Pard3b A T 1: 62,205,526 (GRCm39) D440V probably damaging Het
Pou3f2 T G 4: 22,486,960 (GRCm39) D391A possibly damaging Het
Ptprk T C 10: 28,139,512 (GRCm39) V79A probably benign Het
Rwdd2a A G 9: 86,456,331 (GRCm39) D169G probably damaging Het
Scn3b A C 9: 40,190,792 (GRCm39) D74A probably damaging Het
Setbp1 C T 18: 79,130,050 (GRCm39) D61N probably damaging Het
Setx T A 2: 29,053,004 (GRCm39) D2089E probably damaging Het
Vmn2r69 C G 7: 85,056,082 (GRCm39) W685C probably damaging Het
Vps8 A G 16: 21,400,348 (GRCm39) Q1272R probably benign Het
Wnk4 T C 11: 101,160,462 (GRCm39) F699L probably damaging Het
Zfp616 T A 11: 73,974,803 (GRCm39) N448K possibly damaging Het
Zfp618 C A 4: 63,033,685 (GRCm39) D307E possibly damaging Het
Zfp687 A G 3: 94,914,844 (GRCm39) F1219S probably damaging Het
Zfpm2 T A 15: 40,962,687 (GRCm39) D248E 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
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
R6188:Fam151a UTSW 4 106,602,696 (GRCm39) missense possibly damaging 0.61
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'- TCACCAGATGCAGAGTAGAGACCG -3'
(R):5'- ACCAATGGAAGCAGTGACCAGC -3'

Sequencing Primer
(F):5'- TCTCCAAGCTGAGTCTCAATAGG -3'
(R):5'- AGCAGTGACCAGCCAGTG -3'
Posted On 2014-03-28