Incidental Mutation 'R5367:Apol7c'
ID 429441
Institutional Source Beutler Lab
Gene Symbol Apol7c
Ensembl Gene ENSMUSG00000044309
Gene Name apolipoprotein L 7c
Synonyms
MMRRC Submission 042945-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5367 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 77524852-77533316 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 77526147 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 200 (V200F)
Ref Sequence ENSEMBL: ENSMUSP00000050745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062562] [ENSMUST00000230863]
AlphaFold Q8C6E1
Predicted Effect probably damaging
Transcript: ENSMUST00000062562
AA Change: V200F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050745
Gene: ENSMUSG00000044309
AA Change: V200F

DomainStartEndE-ValueType
Pfam:ApoL 20 81 1.7e-12 PFAM
Pfam:ApoL 77 367 5.1e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000230863
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 97% (70/72)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T C 3: 60,039,636 (GRCm38) Y252H probably damaging Het
Aadat T C 8: 60,526,596 (GRCm38) I164T probably damaging Het
Adam11 A G 11: 102,773,653 (GRCm38) H389R probably benign Het
Alkbh5 G T 11: 60,538,703 (GRCm38) R94L possibly damaging Het
Ampd3 A G 7: 110,807,871 (GRCm38) K644R possibly damaging Het
Ankhd1 T A 18: 36,589,408 (GRCm38) L328H probably damaging Het
Ankrd55 G T 13: 112,318,502 (GRCm38) V45F probably damaging Het
Arap1 G A 7: 101,409,130 (GRCm38) V721M probably damaging Het
Arhgef40 A G 14: 51,989,699 (GRCm38) D400G probably damaging Het
Bmp4 G T 14: 46,384,493 (GRCm38) T198K possibly damaging Het
Cblb T A 16: 52,204,653 (GRCm38) F970L probably damaging Het
Celf5 A G 10: 81,467,264 (GRCm38) S148P probably damaging Het
Ckap5 T A 2: 91,615,141 (GRCm38) C1708S possibly damaging Het
Clec2l T C 6: 38,677,524 (GRCm38) F147L possibly damaging Het
Cnksr1 T A 4: 134,230,214 (GRCm38) I465F possibly damaging Het
Coq10b A G 1: 55,052,984 (GRCm38) D37G probably benign Het
Cpq T G 15: 33,213,104 (GRCm38) Y90D possibly damaging Het
Depdc1a G A 3: 159,523,954 (GRCm38) probably null Het
Eif2ak4 T A 2: 118,436,158 (GRCm38) probably null Het
Eif3e C T 15: 43,252,304 (GRCm38) M355I probably damaging Het
Eif4e1b G A 13: 54,786,944 (GRCm38) V181M probably damaging Het
Erap1 A G 13: 74,646,561 (GRCm38) E113G probably damaging Het
Fads2 A G 19: 10,064,285 (GRCm38) L438P probably damaging Het
Fbl T A 7: 28,175,050 (GRCm38) V67E probably damaging Het
Gde1 A G 7: 118,705,406 (GRCm38) L82P probably damaging Het
Gm10226 T C 17: 21,691,977 (GRCm38) S40P possibly damaging Het
Gm10717 T G 9: 3,026,317 (GRCm38) F205C probably damaging Het
Gm1988 T A 7: 39,173,780 (GRCm38) noncoding transcript Het
Gm6728 T C 6: 136,486,504 (GRCm38) noncoding transcript Het
Grb14 C T 2: 64,917,309 (GRCm38) V369I probably benign Het
Jag1 T A 2: 137,085,094 (GRCm38) Q915L possibly damaging Het
Kdm5d G A Y: 941,645 (GRCm38) G1282D probably benign Het
Krt87 A T 15: 101,486,994 (GRCm38) L407Q probably damaging Het
Mlf1 A T 3: 67,393,963 (GRCm38) H118L probably damaging Het
Mmp10 G T 9: 7,505,602 (GRCm38) C289F probably damaging Het
Mroh2a A T 1: 88,254,965 (GRCm38) N1205I possibly damaging Het
Myo9a T A 9: 59,900,449 (GRCm38) S2029T probably damaging Het
Nap1l4 A C 7: 143,534,298 (GRCm38) S174R probably damaging Het
Nos3 A G 5: 24,371,944 (GRCm38) T490A probably benign Het
Or12d2 T A 17: 37,314,256 (GRCm38) I43F probably damaging Het
Or4k35 T A 2: 111,269,890 (GRCm38) Q159L possibly damaging Het
Or5a1 A G 19: 12,120,436 (GRCm38) V80A possibly damaging Het
Or5b106 G A 19: 13,146,501 (GRCm38) L53F probably damaging Het
Or5g23 A T 2: 85,608,374 (GRCm38) C179S probably damaging Het
Pdlim7 G C 13: 55,506,162 (GRCm38) T214S probably benign Het
Piezo2 T C 18: 63,064,731 (GRCm38) E1578G probably damaging Het
Ptcd1 T A 5: 145,147,905 (GRCm38) probably benign Het
Sart3 C T 5: 113,759,216 (GRCm38) probably null Het
Scara5 CG C 14: 65,759,662 (GRCm38) probably null Het
Scrn2 A G 11: 97,033,127 (GRCm38) D279G possibly damaging Het
Sh2d3c A G 2: 32,745,902 (GRCm38) D94G probably damaging Het
Slc12a4 A T 8: 105,951,634 (GRCm38) V309E probably damaging Het
Slc1a6 A G 10: 78,787,803 (GRCm38) E12G probably damaging Het
Smarcal1 T C 1: 72,595,976 (GRCm38) probably null Het
Smr3a T C 5: 88,008,038 (GRCm38) probably benign Het
Stox2 A G 8: 47,203,225 (GRCm38) I72T probably damaging Het
Tmem234 G T 4: 129,600,707 (GRCm38) probably benign Het
Tmem35b A G 4: 127,124,473 (GRCm38) Q20R possibly damaging Het
Tom1l2 G A 11: 60,241,808 (GRCm38) H430Y probably benign Het
Tpo T C 12: 30,103,290 (GRCm38) Y355C probably damaging Het
Tulp2 A G 7: 45,516,651 (GRCm38) N122S possibly damaging Het
Washc2 T A 6: 116,259,150 (GRCm38) L1194H probably damaging Het
Xbp1 T C 11: 5,521,910 (GRCm38) V12A probably benign Het
Other mutations in Apol7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Apol7c APN 15 77,526,437 (GRCm38) missense probably damaging 1.00
IGL01653:Apol7c APN 15 77,526,300 (GRCm38) missense probably damaging 1.00
IGL02169:Apol7c APN 15 77,526,416 (GRCm38) missense possibly damaging 0.87
IGL02262:Apol7c APN 15 77,525,813 (GRCm38) missense probably benign 0.20
IGL02375:Apol7c APN 15 77,528,849 (GRCm38) missense probably damaging 0.98
IGL02645:Apol7c APN 15 77,528,883 (GRCm38) missense probably benign 0.19
IGL02934:Apol7c APN 15 77,526,118 (GRCm38) missense possibly damaging 0.51
IGL03127:Apol7c APN 15 77,525,906 (GRCm38) missense probably benign 0.16
R0130:Apol7c UTSW 15 77,526,362 (GRCm38) missense possibly damaging 0.52
R0659:Apol7c UTSW 15 77,526,273 (GRCm38) missense probably damaging 0.99
R1638:Apol7c UTSW 15 77,526,218 (GRCm38) missense probably damaging 0.97
R1980:Apol7c UTSW 15 77,526,044 (GRCm38) missense probably benign 0.16
R4366:Apol7c UTSW 15 77,526,389 (GRCm38) missense probably benign 0.07
R4466:Apol7c UTSW 15 77,526,464 (GRCm38) missense probably benign 0.00
R4624:Apol7c UTSW 15 77,526,395 (GRCm38) missense probably damaging 1.00
R4629:Apol7c UTSW 15 77,526,395 (GRCm38) missense probably damaging 1.00
R4706:Apol7c UTSW 15 77,525,723 (GRCm38) missense probably benign 0.05
R5586:Apol7c UTSW 15 77,526,399 (GRCm38) missense possibly damaging 0.81
R6239:Apol7c UTSW 15 77,526,431 (GRCm38) missense probably benign 0.28
R6860:Apol7c UTSW 15 77,526,074 (GRCm38) missense probably benign 0.02
R7179:Apol7c UTSW 15 77,525,643 (GRCm38) missense probably benign 0.01
R7234:Apol7c UTSW 15 77,525,675 (GRCm38) nonsense probably null
R7513:Apol7c UTSW 15 77,525,711 (GRCm38) missense possibly damaging 0.51
R7779:Apol7c UTSW 15 77,525,746 (GRCm38) missense probably damaging 0.98
R8499:Apol7c UTSW 15 77,526,080 (GRCm38) missense possibly damaging 0.88
R9335:Apol7c UTSW 15 77,525,689 (GRCm38) missense probably benign 0.00
R9354:Apol7c UTSW 15 77,525,912 (GRCm38) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- GGCTTTGGACAACTGAATGGC -3'
(R):5'- AGAGCATCAGGAAGCTCCAC -3'

Sequencing Primer
(F):5'- TGGACAACTGAATGGCATTAATAC -3'
(R):5'- CCTGGCAGACAAGGTTGAC -3'
Posted On 2016-09-06