Incidental Mutation 'R1345:Fam151a'
ID 156454
Institutional Source Beutler Lab
Gene Symbol Fam151a
Ensembl Gene ENSMUSG00000034871
Gene Name family with sequence simliarity 151, member A
Synonyms
MMRRC Submission 039410-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1345 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 106591112-106605489 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106599491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 142 (K142E)
Ref Sequence ENSEMBL: ENSMUSP00000047860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047620] [ENSMUST00000065253] [ENSMUST00000102762]
AlphaFold Q8QZW3
Predicted Effect probably damaging
Transcript: ENSMUST00000047620
AA Change: K142E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047860
Gene: ENSMUSG00000034871
AA Change: K142E

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
Meta Mutation Damage Score 0.4353 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 92.3%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik C T 12: 110,635,152 (GRCm39) V129I probably damaging Het
Akr1c18 T C 13: 4,195,213 (GRCm39) T82A possibly damaging Het
Alx1 A G 10: 102,864,353 (GRCm39) S39P possibly damaging Het
Atr A G 9: 95,802,408 (GRCm39) T1767A probably benign Het
Brf1 A T 12: 112,924,728 (GRCm39) probably null Het
Cd86 A G 16: 36,438,686 (GRCm39) probably null Het
Cdan1 A G 2: 120,549,620 (GRCm39) probably null Het
Cntln A G 4: 84,892,228 (GRCm39) D371G probably damaging Het
Cypt4 A G 9: 24,536,515 (GRCm39) T2A possibly damaging Het
Dll1 G T 17: 15,593,817 (GRCm39) Y183* probably null Het
Dnmt1 G T 9: 20,819,814 (GRCm39) P1444Q probably damaging Het
Ern2 A G 7: 121,776,993 (GRCm39) L309P probably damaging Het
Fbn1 T C 2: 125,156,591 (GRCm39) E2378G probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Kdm5b A C 1: 134,558,288 (GRCm39) T1432P possibly damaging Het
Kif2a G A 13: 107,130,423 (GRCm39) S15F probably damaging Het
Lzic A G 4: 149,571,308 (GRCm39) E31G probably damaging Het
Mmp16 A G 4: 18,112,021 (GRCm39) M466V probably benign Het
Mtm1 T C X: 70,330,837 (GRCm39) V203A probably benign Het
Muc21 T A 17: 35,932,489 (GRCm39) probably benign Het
Neurl4 A G 11: 69,794,702 (GRCm39) M249V probably benign Het
Or6c76b T C 10: 129,692,759 (GRCm39) I124T probably damaging Het
Plxna2 T C 1: 194,326,794 (GRCm39) Y243H probably damaging Het
Rbm44 A G 1: 91,080,481 (GRCm39) N223S probably damaging Het
Sel1l3 G T 5: 53,357,559 (GRCm39) H144Q possibly damaging Het
Simc1 A ANNNNNNNNNNNNNNNNNNNNN 13: 54,673,060 (GRCm39) probably benign Het
Snrpb2 A G 2: 142,907,086 (GRCm39) probably benign Het
Spata31d1d T G 13: 59,873,838 (GRCm39) K1232N possibly damaging Het
Spink5 A T 18: 44,123,749 (GRCm39) E345D possibly damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tarbp1 T C 8: 127,175,069 (GRCm39) D789G probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tmem232 T C 17: 65,757,401 (GRCm39) N264S possibly damaging Het
Trim43b G C 9: 88,967,725 (GRCm39) L303V possibly damaging Het
Tulp2 C A 7: 45,168,145 (GRCm39) R298S probably benign Het
Usp42 A G 5: 143,703,088 (GRCm39) V511A probably damaging Het
Vav1 A T 17: 57,608,214 (GRCm39) T321S probably benign Het
Vmn1r169 A C 7: 23,277,247 (GRCm39) H213P probably damaging Het
Vmn1r170 C T 7: 23,305,787 (GRCm39) T63I probably benign Het
Vmn2r103 T G 17: 20,014,509 (GRCm39) W434G probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp7 T C 15: 76,774,908 (GRCm39) S317P 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
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
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'- AGTGCGTGAGCAGACACACAAC -3'
(R):5'- TGACCCACGAGGGACATTTTGACC -3'

Sequencing Primer
(F):5'- AGTGCTCATTGAATTCTGCCTC -3'
(R):5'- AGGGACATTTTGACCCTGTCTG -3'
Posted On 2014-02-11