Incidental Mutation 'IGL02963:Cfhr4'
ID 365416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfhr4
Ensembl Gene ENSMUSG00000070594
Gene Name complement factor H-related 4
Synonyms Gm4788
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL02963
Quality Score
Status
Chromosome 1
Chromosomal Location 139625657-139708977 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 139659334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 732 (Q732*)
Ref Sequence ENSEMBL: ENSMUSP00000107620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027612] [ENSMUST00000111986] [ENSMUST00000111989]
AlphaFold E9Q8B5
Predicted Effect probably null
Transcript: ENSMUST00000027612
AA Change: Q661*
SMART Domains Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: Q661*

DomainStartEndE-ValueType
CCP 28 88 1.65e-2 SMART
CCP 92 145 1.15e-10 SMART
CCP 151 208 5.65e-10 SMART
CCP 212 267 1.12e-4 SMART
CCP 272 325 4.52e-9 SMART
CCP 332 386 9.1e-14 SMART
CCP 393 446 1.58e-13 SMART
CCP 455 505 4.92e-1 SMART
CCP 511 564 8.9e-8 SMART
CCP 569 622 4.18e-13 SMART
CCP 627 681 3.5e-15 SMART
CCP 688 742 5.69e-15 SMART
CCP 746 807 2.77e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111986
SMART Domains Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594

DomainStartEndE-ValueType
CCP 28 88 1.65e-2 SMART
CCP 92 145 1.15e-10 SMART
CCP 151 208 5.65e-10 SMART
CCP 212 267 1.12e-4 SMART
CCP 272 325 4.52e-9 SMART
CCP 333 387 9.1e-14 SMART
CCP 394 447 1.58e-13 SMART
CCP 456 506 4.92e-1 SMART
CCP 512 565 8.9e-8 SMART
CCP 571 635 2.66e-6 SMART
CCP 640 693 4.18e-13 SMART
CCP 700 754 5.69e-15 SMART
CCP 758 819 2.77e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000111989
AA Change: Q732*
SMART Domains Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: Q732*

DomainStartEndE-ValueType
CCP 28 88 1.65e-2 SMART
CCP 92 145 1.15e-10 SMART
CCP 151 208 5.65e-10 SMART
CCP 212 267 1.12e-4 SMART
CCP 272 325 4.52e-9 SMART
CCP 333 387 9.1e-14 SMART
CCP 394 447 1.58e-13 SMART
CCP 456 506 4.92e-1 SMART
CCP 512 565 8.9e-8 SMART
CCP 571 635 2.66e-6 SMART
CCP 640 693 4.18e-13 SMART
CCP 698 752 3.5e-15 SMART
CCP 759 813 5.69e-15 SMART
CCP 817 878 2.77e0 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,603,503 (GRCm39) L565Q probably damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
Arhgap44 A T 11: 64,922,489 (GRCm39) I348N probably damaging Het
Bahcc1 T C 11: 120,165,758 (GRCm39) S1005P possibly damaging Het
Ccn1 A G 3: 145,353,630 (GRCm39) Y311H probably damaging Het
Cdh20 T A 1: 104,861,823 (GRCm39) M1K probably null Het
Cpsf3 T C 12: 21,352,423 (GRCm39) S387P probably damaging Het
Cyp2j6 T C 4: 96,406,421 (GRCm39) E450G probably damaging Het
Dusp13b T C 14: 21,783,875 (GRCm39) T147A possibly damaging Het
Eif3c T C 7: 126,155,992 (GRCm39) T493A probably benign Het
Ell2 T C 13: 75,917,762 (GRCm39) V564A possibly damaging Het
Gtf2ird1 T G 5: 134,418,541 (GRCm39) E478D probably benign Het
Gys2 A T 6: 142,395,154 (GRCm39) probably null Het
H2-T3 T C 17: 36,500,526 (GRCm39) T104A probably damaging Het
Herc1 T C 9: 66,296,105 (GRCm39) S567P probably damaging Het
Kcnq3 A T 15: 66,157,675 (GRCm39) probably benign Het
Kdm7a T C 6: 39,120,164 (GRCm39) H935R probably damaging Het
Lcat A T 8: 106,666,588 (GRCm39) F311L probably damaging Het
Manf A G 9: 106,768,338 (GRCm39) S49P possibly damaging Het
Med25 T C 7: 44,541,680 (GRCm39) K37E probably damaging Het
Ms4a4b T A 19: 11,432,062 (GRCm39) I61K probably damaging Het
Muc5b T C 7: 141,418,001 (GRCm39) I3649T probably damaging Het
Myo18a T G 11: 77,732,844 (GRCm39) probably benign Het
Ncoa4 T C 14: 31,898,466 (GRCm39) C429R probably damaging Het
Or14j2 A G 17: 37,885,745 (GRCm39) S190P probably benign Het
Pigk G T 3: 152,472,098 (GRCm39) E337* probably null Het
Pigz A T 16: 31,763,353 (GRCm39) Y137F probably damaging Het
Ppp1r12b A G 1: 134,814,286 (GRCm39) L339P probably damaging Het
Rasa2 C A 9: 96,452,838 (GRCm39) L349F probably damaging Het
Reep4 A G 14: 70,785,410 (GRCm39) S186G possibly damaging Het
Rfx7 A G 9: 72,524,898 (GRCm39) K696R probably benign Het
Rnf220 A G 4: 117,347,389 (GRCm39) F8L probably damaging Het
Rprm T C 2: 53,975,226 (GRCm39) T31A probably benign Het
Sez6 T A 11: 77,853,775 (GRCm39) L148Q possibly damaging Het
Sh2d6 C T 6: 72,494,584 (GRCm39) V96I probably benign Het
Slc16a9 G T 10: 70,102,966 (GRCm39) V81F probably damaging Het
Slc9a9 T A 9: 94,902,767 (GRCm39) probably null Het
Sppl3 T A 5: 115,199,662 (GRCm39) L22Q probably damaging Het
Ssc5d T C 7: 4,947,326 (GRCm39) S1227P probably benign Het
Tbc1d1 T A 5: 64,421,709 (GRCm39) V238E probably damaging Het
Tmco6 G A 18: 36,871,798 (GRCm39) probably null Het
Tyr A G 7: 87,133,205 (GRCm39) V287A probably benign Het
Uvrag A T 7: 98,555,697 (GRCm39) probably null Het
Vmn1r167 A G 7: 23,204,975 (GRCm39) S14P possibly damaging Het
Vmn1r171 A G 7: 23,332,113 (GRCm39) T113A possibly damaging Het
Wnk4 A G 11: 101,167,039 (GRCm39) probably benign Het
Zan T C 5: 137,454,512 (GRCm39) T1431A unknown Het
Other mutations in Cfhr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Cfhr4 APN 1 139,659,312 (GRCm39) missense probably damaging 0.99
IGL01088:Cfhr4 APN 1 139,625,823 (GRCm39) utr 3 prime probably benign
IGL01419:Cfhr4 APN 1 139,667,382 (GRCm39) critical splice acceptor site probably null
IGL01552:Cfhr4 APN 1 139,667,040 (GRCm39) missense probably damaging 1.00
IGL01924:Cfhr4 APN 1 139,666,944 (GRCm39) missense probably damaging 0.99
IGL02032:Cfhr4 APN 1 139,702,284 (GRCm39) missense probably damaging 1.00
IGL02254:Cfhr4 APN 1 139,661,143 (GRCm39) splice site probably benign
IGL02318:Cfhr4 APN 1 139,708,835 (GRCm39) missense probably benign 0.20
IGL02527:Cfhr4 APN 1 139,680,783 (GRCm39) missense probably damaging 1.00
IGL02531:Cfhr4 APN 1 139,702,307 (GRCm39) missense probably benign 0.10
IGL02587:Cfhr4 APN 1 139,629,668 (GRCm39) missense probably damaging 1.00
IGL02644:Cfhr4 APN 1 139,708,905 (GRCm39) start codon destroyed probably null 0.63
IGL02852:Cfhr4 APN 1 139,701,754 (GRCm39) missense probably damaging 1.00
IGL03084:Cfhr4 APN 1 139,708,880 (GRCm39) missense possibly damaging 0.94
R0131:Cfhr4 UTSW 1 139,682,009 (GRCm39) missense probably damaging 0.98
R0131:Cfhr4 UTSW 1 139,682,009 (GRCm39) missense probably damaging 0.98
R0132:Cfhr4 UTSW 1 139,682,009 (GRCm39) missense probably damaging 0.98
R0549:Cfhr4 UTSW 1 139,667,226 (GRCm39) missense probably damaging 1.00
R0558:Cfhr4 UTSW 1 139,667,230 (GRCm39) missense probably damaging 0.99
R0610:Cfhr4 UTSW 1 139,629,584 (GRCm39) missense probably benign 0.20
R1341:Cfhr4 UTSW 1 139,660,131 (GRCm39) missense probably damaging 0.98
R1460:Cfhr4 UTSW 1 139,625,934 (GRCm39) missense probably damaging 0.99
R1544:Cfhr4 UTSW 1 139,664,608 (GRCm39) missense probably damaging 1.00
R1873:Cfhr4 UTSW 1 139,702,398 (GRCm39) missense probably damaging 0.97
R2032:Cfhr4 UTSW 1 139,660,993 (GRCm39) splice site probably benign
R2111:Cfhr4 UTSW 1 139,702,417 (GRCm39) splice site probably benign
R2179:Cfhr4 UTSW 1 139,659,279 (GRCm39) missense probably damaging 1.00
R3806:Cfhr4 UTSW 1 139,680,773 (GRCm39) missense probably damaging 1.00
R4356:Cfhr4 UTSW 1 139,660,048 (GRCm39) missense probably damaging 1.00
R4747:Cfhr4 UTSW 1 139,625,922 (GRCm39) missense probably damaging 1.00
R4838:Cfhr4 UTSW 1 139,661,181 (GRCm39) missense probably damaging 1.00
R4867:Cfhr4 UTSW 1 139,702,213 (GRCm39) critical splice donor site probably null
R4910:Cfhr4 UTSW 1 139,702,301 (GRCm39) missense probably damaging 1.00
R4911:Cfhr4 UTSW 1 139,702,301 (GRCm39) missense probably damaging 1.00
R5050:Cfhr4 UTSW 1 139,664,578 (GRCm39) missense probably damaging 0.99
R5120:Cfhr4 UTSW 1 139,680,841 (GRCm39) missense probably benign 0.39
R5259:Cfhr4 UTSW 1 139,668,233 (GRCm39) missense probably damaging 1.00
R5504:Cfhr4 UTSW 1 139,629,558 (GRCm39) missense probably benign 0.18
R5825:Cfhr4 UTSW 1 139,702,336 (GRCm39) splice site probably null
R5949:Cfhr4 UTSW 1 139,660,887 (GRCm39) missense probably damaging 0.98
R6140:Cfhr4 UTSW 1 139,660,133 (GRCm39) missense probably damaging 1.00
R6200:Cfhr4 UTSW 1 139,682,073 (GRCm39) missense probably damaging 0.97
R6254:Cfhr4 UTSW 1 139,682,128 (GRCm39) missense probably damaging 0.98
R6255:Cfhr4 UTSW 1 139,680,749 (GRCm39) nonsense probably null
R6334:Cfhr4 UTSW 1 139,701,662 (GRCm39) splice site probably null
R6611:Cfhr4 UTSW 1 139,660,128 (GRCm39) missense probably damaging 1.00
R6798:Cfhr4 UTSW 1 139,625,859 (GRCm39) missense probably benign 0.20
R6800:Cfhr4 UTSW 1 139,629,719 (GRCm39) missense possibly damaging 0.85
R6895:Cfhr4 UTSW 1 139,668,210 (GRCm39) missense possibly damaging 0.84
R6904:Cfhr4 UTSW 1 139,659,391 (GRCm39) missense possibly damaging 0.79
R6994:Cfhr4 UTSW 1 139,664,668 (GRCm39) missense possibly damaging 0.67
R7173:Cfhr4 UTSW 1 139,659,415 (GRCm39) nonsense probably null
R7184:Cfhr4 UTSW 1 139,660,822 (GRCm39) missense possibly damaging 0.65
R7192:Cfhr4 UTSW 1 139,667,033 (GRCm39) missense probably damaging 0.96
R7205:Cfhr4 UTSW 1 139,680,788 (GRCm39) nonsense probably null
R7302:Cfhr4 UTSW 1 139,667,436 (GRCm39) splice site probably null
R7308:Cfhr4 UTSW 1 139,682,041 (GRCm39) missense possibly damaging 0.71
R7735:Cfhr4 UTSW 1 139,660,039 (GRCm39) critical splice donor site probably null
R8006:Cfhr4 UTSW 1 139,664,590 (GRCm39) missense probably damaging 1.00
R8045:Cfhr4 UTSW 1 139,661,243 (GRCm39) missense probably damaging 0.99
R8188:Cfhr4 UTSW 1 139,625,868 (GRCm39) missense probably damaging 1.00
R8339:Cfhr4 UTSW 1 139,660,157 (GRCm39) missense probably damaging 1.00
R9156:Cfhr4 UTSW 1 139,660,085 (GRCm39) missense probably damaging 0.96
R9339:Cfhr4 UTSW 1 139,682,044 (GRCm39) missense probably benign 0.26
R9520:Cfhr4 UTSW 1 139,682,135 (GRCm39) missense probably damaging 0.99
R9525:Cfhr4 UTSW 1 139,702,250 (GRCm39) missense probably damaging 1.00
R9554:Cfhr4 UTSW 1 139,668,169 (GRCm39) missense probably benign 0.04
R9635:Cfhr4 UTSW 1 139,701,764 (GRCm39) missense probably damaging 1.00
R9669:Cfhr4 UTSW 1 139,708,872 (GRCm39) missense probably damaging 0.96
R9737:Cfhr4 UTSW 1 139,708,872 (GRCm39) missense probably damaging 0.96
X0009:Cfhr4 UTSW 1 139,661,287 (GRCm39) missense probably benign 0.08
X0024:Cfhr4 UTSW 1 139,661,247 (GRCm39) missense probably damaging 1.00
Z1088:Cfhr4 UTSW 1 139,681,999 (GRCm39) missense probably damaging 0.99
Z1176:Cfhr4 UTSW 1 139,661,186 (GRCm39) missense probably damaging 1.00
Z1176:Cfhr4 UTSW 1 139,625,994 (GRCm39) missense probably benign 0.13
Posted On 2015-12-18