Incidental Mutation 'R4518:Fam168a'
ID 334070
Institutional Source Beutler Lab
Gene Symbol Fam168a
Ensembl Gene ENSMUSG00000029461
Gene Name family with sequence similarity 168, member A
Synonyms 2610030B18Rik, B930006L02Rik
MMRRC Submission 041762-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R4518 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 100355842-100490863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100483247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 176 (A176V)
Ref Sequence ENSEMBL: ENSMUSP00000146839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049053] [ENSMUST00000107042] [ENSMUST00000207564] [ENSMUST00000207875] [ENSMUST00000208013] [ENSMUST00000216021]
AlphaFold Q8BGZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000049053
AA Change: A151V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038233
Gene: ENSMUSG00000029461
AA Change: A151V

DomainStartEndE-ValueType
Pfam:TCRP1 1 235 1.4e-112 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107042
AA Change: A160V

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102657
Gene: ENSMUSG00000029461
AA Change: A160V

DomainStartEndE-ValueType
Pfam:TCRP1 1 235 1.7e-105 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207564
Predicted Effect probably damaging
Transcript: ENSMUST00000207875
AA Change: A151V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000208013
AA Change: A176V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216021
AA Change: A151V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.6564 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082J24Rik T A 5: 30,311,006 (GRCm39) probably null Het
Abr A G 11: 76,363,344 (GRCm39) S167P possibly damaging Het
Adamtsl2 T C 2: 26,985,559 (GRCm39) L481P probably benign Het
Atp8b3 C T 10: 80,359,681 (GRCm39) M984I probably benign Het
Brip1 G A 11: 85,968,704 (GRCm39) A827V possibly damaging Het
Carns1 T G 19: 4,220,069 (GRCm39) T389P probably benign Het
Ccdc88a T C 11: 29,432,651 (GRCm39) I1219T probably benign Het
Cckar T C 5: 53,857,264 (GRCm39) N311S probably damaging Het
Cenpc1 A G 5: 86,195,446 (GRCm39) S108P possibly damaging Het
Chpf G T 1: 75,451,689 (GRCm39) S588R probably damaging Het
Clca3a2 T A 3: 144,514,466 (GRCm39) T414S probably damaging Het
Cntrl A G 2: 35,038,986 (GRCm39) E1092G probably damaging Het
Crb2 C A 2: 37,680,401 (GRCm39) T443K probably damaging Het
Crppa G A 12: 36,523,179 (GRCm39) V203I possibly damaging Het
Cwf19l1 A G 19: 44,121,473 (GRCm39) V25A probably damaging Het
Cyb561d1 T C 3: 108,106,887 (GRCm39) I111V possibly damaging Het
Dbn1 A T 13: 55,624,042 (GRCm39) I350N possibly damaging Het
Dnajb4 T C 3: 151,890,813 (GRCm39) I329V probably benign Het
Dnmt1 G T 9: 20,823,274 (GRCm39) D1055E probably benign Het
Farp2 A G 1: 93,548,363 (GRCm39) E1016G probably benign Het
Fibcd1 A T 2: 31,707,207 (GRCm39) V350E probably damaging Het
Galnt3 C A 2: 65,923,954 (GRCm39) R438L probably damaging Het
Golga4 T A 9: 118,388,076 (GRCm39) S1733T probably benign Het
Golgb1 G A 16: 36,749,625 (GRCm39) E3076K probably damaging Het
Grm7 A G 6: 110,891,507 (GRCm39) probably null Het
Hcn2 T C 10: 79,560,536 (GRCm39) V289A probably benign Het
Hipk1 G T 3: 103,657,688 (GRCm39) H799N probably damaging Het
Klf14 A G 6: 30,934,867 (GRCm39) S256P possibly damaging Het
Muc6 T A 7: 141,230,489 (GRCm39) T1214S probably benign Het
Nlrp2 T A 7: 5,328,055 (GRCm39) D666V possibly damaging Het
Ntng1 A G 3: 109,842,329 (GRCm39) I148T probably damaging Het
Or4k35 T C 2: 111,100,263 (GRCm39) M150V probably benign Het
Or7d9 A G 9: 20,197,546 (GRCm39) I184V probably benign Het
Or7g27 T A 9: 19,250,556 (GRCm39) S267T possibly damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pacs2 A G 12: 113,024,289 (GRCm39) D360G probably benign Het
Parp8 C A 13: 117,032,209 (GRCm39) L321F possibly damaging Het
Pdss2 T A 10: 43,248,146 (GRCm39) S217T probably damaging Het
Plekhn1 T C 4: 156,309,988 (GRCm39) S109G probably damaging Het
Prlr C A 15: 10,329,085 (GRCm39) T520K possibly damaging Het
Prokr2 T A 2: 132,216,012 (GRCm39) probably null Het
Rab3gap2 G A 1: 184,999,265 (GRCm39) V991I probably benign Het
Reln T C 5: 22,106,741 (GRCm39) I3210V probably benign Het
Rims2 T C 15: 39,300,922 (GRCm39) Y218H probably damaging Het
Slc41a1 T C 1: 131,766,863 (GRCm39) V127A probably damaging Het
St8sia6 T A 2: 13,797,562 (GRCm39) probably null Het
Tlr6 A G 5: 65,112,247 (GRCm39) F220S possibly damaging Het
Trmt1l C T 1: 151,324,094 (GRCm39) Q314* probably null Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vnn3 G A 10: 23,743,124 (GRCm39) V445M possibly damaging Het
Ypel1 A T 16: 16,913,905 (GRCm39) F173I possibly damaging Het
Zfhx4 T C 3: 5,477,578 (GRCm39) C3398R probably damaging Het
Zfyve16 T C 13: 92,657,820 (GRCm39) E697G possibly damaging Het
Other mutations in Fam168a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01658:Fam168a APN 7 100,462,180 (GRCm39) missense possibly damaging 0.94
IGL02502:Fam168a APN 7 100,473,417 (GRCm39) missense probably damaging 1.00
IGL03048:Fam168a UTSW 7 100,484,545 (GRCm39) missense probably damaging 0.99
R0069:Fam168a UTSW 7 100,484,618 (GRCm39) missense probably benign 0.40
R2509:Fam168a UTSW 7 100,483,391 (GRCm39) critical splice donor site probably null
R3715:Fam168a UTSW 7 100,473,432 (GRCm39) missense probably damaging 0.99
R5463:Fam168a UTSW 7 100,484,602 (GRCm39) missense probably benign 0.00
R5486:Fam168a UTSW 7 100,483,376 (GRCm39) missense probably damaging 0.99
R6123:Fam168a UTSW 7 100,473,357 (GRCm39) missense probably damaging 1.00
R8974:Fam168a UTSW 7 100,484,611 (GRCm39) missense probably benign 0.33
R9075:Fam168a UTSW 7 100,484,582 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTGACCTCGGTGCAGAATG -3'
(R):5'- CTCCCCATGTGAGGAATTCC -3'

Sequencing Primer
(F):5'- CCTCGGTGCAGAATGAGACG -3'
(R):5'- TTCCTGAAAGAGAGCAAAGGATG -3'
Posted On 2015-08-18