Incidental Mutation 'R9291:Cnfn'
ID 704280
Institutional Source Beutler Lab
Gene Symbol Cnfn
Ensembl Gene ENSMUSG00000063651
Gene Name cornifelin
Synonyms 2210418J09Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R9291 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 25067045-25069149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25067476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 67 (D67G)
Ref Sequence ENSEMBL: ENSMUSP00000130957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076276] [ENSMUST00000128119] [ENSMUST00000167591]
AlphaFold Q6PCW6
Predicted Effect possibly damaging
Transcript: ENSMUST00000076276
AA Change: D54G

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000075625
Gene: ENSMUSG00000063651
AA Change: D54G

DomainStartEndE-ValueType
Pfam:PLAC8 23 107 2.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128119
SMART Domains Protein: ENSMUSP00000122192
Gene: ENSMUSG00000045039

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
CUB 33 140 1.24e-15 SMART
EGF 141 170 4.26e0 SMART
EGF 173 203 2.43e1 SMART
Pfam:Kelch_4 227 277 1.3e-11 PFAM
Pfam:Kelch_3 240 287 1.6e-7 PFAM
low complexity region 320 341 N/A INTRINSIC
low complexity region 517 531 N/A INTRINSIC
low complexity region 728 738 N/A INTRINSIC
PSI 847 899 1.37e0 SMART
low complexity region 932 938 N/A INTRINSIC
PSI 949 991 2.11e-2 SMART
PSI 1005 1073 7.82e-1 SMART
EGF_CA 1074 1115 2.62e-9 SMART
EGF 1117 1160 5.4e-2 SMART
EGF_like 1163 1208 4e-1 SMART
EGF_Lam 1211 1259 1.03e-7 SMART
Blast:CUB 1263 1401 1e-30 BLAST
EGF_like 1406 1445 3.29e1 SMART
Pfam:Kelch_4 1509 1564 6.5e-12 PFAM
Pfam:Kelch_3 1520 1574 1.2e-10 PFAM
PSI 1868 1923 2.75e-1 SMART
PSI 2004 2062 1.6e0 SMART
PSI 2064 2121 1.68e-5 SMART
EGF 2125 2164 1.08e-1 SMART
EGF 2166 2194 4.26e0 SMART
EGF 2204 2244 2.2e1 SMART
EGF_like 2248 2321 6.37e-1 SMART
low complexity region 2493 2504 N/A INTRINSIC
low complexity region 2530 2541 N/A INTRINSIC
transmembrane domain 2592 2614 N/A INTRINSIC
low complexity region 2649 2668 N/A INTRINSIC
low complexity region 2674 2702 N/A INTRINSIC
low complexity region 2759 2774 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000167591
AA Change: D67G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130957
Gene: ENSMUSG00000063651
AA Change: D67G

DomainStartEndE-ValueType
Pfam:PLAC8 36 119 1.9e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,464 (GRCm39) N551S probably benign Het
Abcg5 C A 17: 84,976,380 (GRCm39) V486L probably benign Het
Acoxl T A 2: 127,814,493 (GRCm39) I303N probably damaging Het
Atp6v1h G T 1: 5,220,284 (GRCm39) W464L probably null Het
Cdcp2 A G 4: 106,964,053 (GRCm39) D301G probably damaging Het
Cenpv T C 11: 62,429,688 (GRCm39) D115G probably benign Het
Col27a1 A C 4: 63,142,539 (GRCm39) I76L probably damaging Het
Crb2 G A 2: 37,682,213 (GRCm39) V865I probably damaging Het
Ctf1 T A 7: 127,316,204 (GRCm39) L58Q probably damaging Het
Dennd6b C T 15: 89,071,590 (GRCm39) V276M possibly damaging Het
Dis3l2 A G 1: 86,901,215 (GRCm39) T483A possibly damaging Het
Dlg5 T C 14: 24,241,229 (GRCm39) T223A probably damaging Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
Dnah8 T C 17: 30,944,099 (GRCm39) I1772T probably damaging Het
Dscaml1 T C 9: 45,359,251 (GRCm39) I170T probably damaging Het
Ehd4 G T 2: 119,921,755 (GRCm39) D500E probably damaging Het
Elac2 T C 11: 64,883,142 (GRCm39) I388T probably damaging Het
Entpd6 G A 2: 150,608,959 (GRCm39) V348M probably benign Het
Epg5 T A 18: 78,056,065 (GRCm39) C1746* probably null Het
Exosc2 G T 2: 31,560,871 (GRCm39) M40I probably benign Het
Fam193a T C 5: 34,593,835 (GRCm39) Y27H probably damaging Het
Gm8005 A G 14: 42,258,885 (GRCm39) F148L Het
Hectd4 T C 5: 121,487,028 (GRCm39) V3341A probably benign Het
Hecw1 A G 13: 14,491,522 (GRCm39) V77A probably benign Het
Irf2bp1 T A 7: 18,738,458 (GRCm39) C33S probably damaging Het
Kank4 A T 4: 98,666,688 (GRCm39) H586Q probably benign Het
Kcnu1 A G 8: 26,390,041 (GRCm39) N619S probably benign Het
Kndc1 A G 7: 139,475,140 (GRCm39) E13G possibly damaging Het
Lrp2 A T 2: 69,310,379 (GRCm39) D2731E probably damaging Het
Lyst A G 13: 13,883,938 (GRCm39) N2942S probably benign Het
Maml3 G A 3: 51,764,328 (GRCm39) T212M probably benign Het
Mill2 T C 7: 18,575,416 (GRCm39) V41A probably benign Het
Moxd2 C A 6: 40,857,362 (GRCm39) C466F probably damaging Het
Nefh A G 11: 4,890,871 (GRCm39) S583P probably benign Het
Nlrp9b T A 7: 19,758,511 (GRCm39) S583T possibly damaging Het
Nup214 T G 2: 31,867,806 (GRCm39) M91R probably benign Het
Or4c121 A C 2: 89,024,138 (GRCm39) M80R possibly damaging Het
Or6c206 T C 10: 129,097,202 (GRCm39) I124T probably damaging Het
Or8k53 A T 2: 86,177,768 (GRCm39) I114N probably benign Het
Otud4 A G 8: 80,372,952 (GRCm39) Y90C probably damaging Het
Papln C A 12: 83,825,284 (GRCm39) T575N probably benign Het
Pkhd1l1 T A 15: 44,433,372 (GRCm39) N3417K probably damaging Het
Pop7 A G 5: 137,499,911 (GRCm39) *141Q probably null Het
Pramel26 A T 4: 143,539,251 (GRCm39) Y81N probably benign Het
Rchy1 A G 5: 92,099,765 (GRCm39) L191S possibly damaging Het
Rims1 T C 1: 22,467,746 (GRCm39) D296G Het
Sftpb T A 6: 72,286,880 (GRCm39) C261* probably null Het
Sgcd C T 11: 46,870,166 (GRCm39) C265Y probably damaging Het
Slc44a5 G A 3: 153,962,218 (GRCm39) V384M possibly damaging Het
Slx4ip T A 2: 136,888,716 (GRCm39) N132K probably benign Het
Sspo C T 6: 48,473,330 (GRCm39) T4861M probably damaging Het
Swt1 T A 1: 151,286,694 (GRCm39) E266V probably damaging Het
Tbc1d9 A G 8: 83,987,750 (GRCm39) D903G probably damaging Het
Tbx18 A T 9: 87,611,535 (GRCm39) M165K probably damaging Het
Tmem25 T C 9: 44,706,799 (GRCm39) N282S probably damaging Het
Tom1l2 T C 11: 60,153,556 (GRCm39) I140M probably benign Het
Trak2 A G 1: 58,943,058 (GRCm39) S783P probably damaging Het
Trpv4 G A 5: 114,768,068 (GRCm39) T534M probably benign Het
Ttc6 G T 12: 57,622,730 (GRCm39) R43M probably damaging Het
Vmn1r194 A G 13: 22,428,875 (GRCm39) Y164C probably benign Het
Vmn1r228 T C 17: 20,997,023 (GRCm39) Y165C probably benign Het
Vps13b C A 15: 35,847,059 (GRCm39) T2614K probably damaging Het
Zdhhc14 T C 17: 5,698,237 (GRCm39) F102S probably benign Het
Zyg11b A G 4: 108,108,014 (GRCm39) M464T probably benign Het
Other mutations in Cnfn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Cnfn APN 7 25,067,385 (GRCm39) splice site probably benign
IGL03396:Cnfn APN 7 25,067,783 (GRCm39) splice site probably benign
R0586:Cnfn UTSW 7 25,067,256 (GRCm39) missense probably benign 0.05
R3793:Cnfn UTSW 7 25,067,805 (GRCm39) missense probably benign 0.26
R6368:Cnfn UTSW 7 25,067,386 (GRCm39) splice site probably null
R8859:Cnfn UTSW 7 25,067,869 (GRCm39) missense probably benign 0.00
R9696:Cnfn UTSW 7 25,067,515 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCGGATTTTCAGTTCCCGCG -3'
(R):5'- TGCCTGGGATCCCATTATCC -3'

Sequencing Primer
(F):5'- CATCTGACAGAGGGCGCAG -3'
(R):5'- AGAGCCCGATCGCTTTGG -3'
Posted On 2022-03-25