Incidental Mutation 'R9075:Fam168a'
ID 689733
Institutional Source Beutler Lab
Gene Symbol Fam168a
Ensembl Gene ENSMUSG00000029461
Gene Name family with sequence similarity 168, member A
Synonyms 2610030B18Rik, B930006L02Rik
MMRRC Submission 068896-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R9075 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 100355842-100490863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100484582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 224 (V224D)
Ref Sequence ENSEMBL: ENSMUSP00000102657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049053] [ENSMUST00000107042] [ENSMUST00000207564] [ENSMUST00000207875] [ENSMUST00000208013] [ENSMUST00000216021]
AlphaFold Q8BGZ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000049053
AA Change: V215D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038233
Gene: ENSMUSG00000029461
AA Change: V215D

DomainStartEndE-ValueType
Pfam:TCRP1 1 235 1.4e-112 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107042
AA Change: V224D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102657
Gene: ENSMUSG00000029461
AA Change: V224D

DomainStartEndE-ValueType
Pfam:TCRP1 1 235 1.7e-105 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000207564
AA Change: V109D
Predicted Effect possibly damaging
Transcript: ENSMUST00000207875
AA Change: V215D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000208013
AA Change: V240D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216021
AA Change: V215D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T G 1: 120,097,014 (GRCm39) S137A Het
Actl6a G T 3: 32,769,641 (GRCm39) C152F possibly damaging Het
Adam26b A T 8: 43,973,405 (GRCm39) D532E probably benign Het
Adamts6 A G 13: 104,598,793 (GRCm39) N878S probably benign Het
Ap1b1 T C 11: 4,975,597 (GRCm39) S387P possibly damaging Het
Cdh23 A G 10: 60,153,541 (GRCm39) S2350P probably damaging Het
Cdh4 A G 2: 179,501,940 (GRCm39) D300G probably damaging Het
Cngb1 T C 8: 95,979,993 (GRCm39) Y969C probably damaging Het
Cog8 C T 8: 107,779,208 (GRCm39) M356I probably damaging Het
Fam210a C T 18: 68,405,693 (GRCm39) V177M probably damaging Het
Flnc A T 6: 29,447,646 (GRCm39) I1150F probably damaging Het
Frmd4a G T 2: 4,608,765 (GRCm39) G878W probably damaging Het
Gm11555 C T 11: 99,540,694 (GRCm39) C95Y Het
Gns A G 10: 121,226,542 (GRCm39) N397S probably benign Het
Grin2b CA C 6: 135,709,509 (GRCm39) probably null Het
Ifi204 T A 1: 173,589,282 (GRCm39) N50Y possibly damaging Het
Iqub T A 6: 24,446,124 (GRCm39) I767F probably damaging Het
Lama2 A T 10: 26,857,588 (GRCm39) L3087Q probably damaging Het
Mars2 A G 1: 55,278,154 (GRCm39) T586A probably damaging Het
Mrps28 G T 3: 8,867,312 (GRCm39) S185R probably benign Het
Nphp4 T C 4: 152,591,905 (GRCm39) Y363H probably damaging Het
Nploc4 T C 11: 120,304,526 (GRCm39) T232A possibly damaging Het
Pate3 A G 9: 35,557,893 (GRCm39) probably null Het
Pcdh18 G A 3: 49,699,339 (GRCm39) A1041V probably benign Het
Plpp5 T A 8: 26,210,379 (GRCm39) Y50N probably benign Het
Ppp4r4 G T 12: 103,570,290 (GRCm39) G755* probably null Het
Psmd14 T A 2: 61,607,021 (GRCm39) V156D probably damaging Het
Ptch1 G A 13: 63,681,335 (GRCm39) R651C possibly damaging Het
Rai14 T C 15: 10,589,403 (GRCm39) E265G probably damaging Het
Rbmx G A X: 56,432,717 (GRCm39) P301L probably benign Het
Rimbp2 T A 5: 128,851,312 (GRCm39) D878V probably damaging Het
Sarm1 T C 11: 78,374,023 (GRCm39) K668R probably benign Het
Slc10a2 C A 8: 5,155,267 (GRCm39) probably benign Het
Slc15a3 T C 19: 10,826,094 (GRCm39) S262P probably damaging Het
Slf2 T C 19: 44,930,860 (GRCm39) Y646H probably damaging Het
Smpd4 C T 16: 17,457,849 (GRCm39) P406S unknown Het
Sv2b A G 7: 74,789,845 (GRCm39) V396A possibly damaging Het
Swt1 A G 1: 151,246,245 (GRCm39) probably benign Het
Sympk A G 7: 18,776,563 (GRCm39) E485G probably benign Het
Tbc1d9 T C 8: 83,982,501 (GRCm39) V762A probably benign Het
Thbs2 T A 17: 14,900,587 (GRCm39) H540L probably benign Het
Tie1 C A 4: 118,341,356 (GRCm39) G275V possibly damaging Het
Tmprss15 T C 16: 78,754,259 (GRCm39) Y998C probably damaging Het
Trappc10 A T 10: 78,040,130 (GRCm39) V607E possibly damaging Het
Trim69 A T 2: 122,009,264 (GRCm39) R441S probably benign Het
Trio G T 15: 27,774,022 (GRCm39) S1814* probably null Het
Vmn1r192 C T 13: 22,371,333 (GRCm39) V296I probably benign Het
Vmn1r223 A G 13: 23,433,600 (GRCm39) S65G possibly damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r41 A G 7: 8,141,250 (GRCm39) V738A probably benign Het
Zfp408 A G 2: 91,476,065 (GRCm39) V363A possibly damaging Het
Zfp583 A T 7: 6,319,870 (GRCm39) C381S probably 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
R4518:Fam168a UTSW 7 100,483,247 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- AATAAAGACTGTTTTCCCTCACCC -3'
(R):5'- ATGACTGTGGCCTGCTTCTG -3'

Sequencing Primer
(F):5'- TAAGTACTCACAGGCAGTCCAGG -3'
(R):5'- GCCTGCTTCTGTGACACCAAAC -3'
Posted On 2021-11-19