Incidental Mutation 'R6904:Cfhr4'
ID 538667
Institutional Source Beutler Lab
Gene Symbol Cfhr4
Ensembl Gene ENSMUSG00000070594
Gene Name complement factor H-related 4
Synonyms Gm4788
MMRRC Submission 045033-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6904 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 139625657-139708977 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 139659391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Histidine at position 642 (N642H)
Ref Sequence ENSEMBL: ENSMUSP00000027612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027612] [ENSMUST00000111986] [ENSMUST00000111989]
AlphaFold E9Q8B5
Predicted Effect possibly damaging
Transcript: ENSMUST00000027612
AA Change: N642H

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: N642H

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 benign
Transcript: ENSMUST00000111989
AA Change: N713H

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: N713H

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,516 (GRCm39) Y406* probably null Het
Acadvl T C 11: 69,905,159 (GRCm39) D109G probably benign Het
Adam24 G A 8: 41,134,542 (GRCm39) G670E probably damaging Het
Angpt1 T C 15: 42,323,136 (GRCm39) M378V probably benign Het
Ankrd33 G A 15: 101,014,993 (GRCm39) probably null Het
Apol7b G A 15: 77,307,625 (GRCm39) T290I probably benign Het
Atg4a-ps A G 3: 103,553,180 (GRCm39) W54R probably damaging Het
B3glct A G 5: 149,663,069 (GRCm39) probably null Het
Bmp7 A G 2: 172,714,706 (GRCm39) S368P probably damaging Het
Boc A G 16: 44,312,154 (GRCm39) V636A probably damaging Het
Cacna1i G A 15: 80,259,002 (GRCm39) R1237H probably damaging Het
Cdcp1 T C 9: 123,002,980 (GRCm39) D697G probably benign Het
Cep85l T C 10: 53,225,194 (GRCm39) T132A probably benign Het
Ces1b T A 8: 93,787,038 (GRCm39) Y447F probably damaging Het
Cntn4 A T 6: 106,674,544 (GRCm39) T1015S probably benign Het
Eea1 T G 10: 95,838,741 (GRCm39) probably null Het
Fcgbpl1 C T 7: 27,836,638 (GRCm39) R186C probably damaging Het
Hipk1 A T 3: 103,684,828 (GRCm39) N262K possibly damaging Het
Jmjd8 G A 17: 26,048,026 (GRCm39) R41H possibly damaging Het
Klhl3 T A 13: 58,178,259 (GRCm39) T344S probably damaging Het
Krt39 T C 11: 99,410,647 (GRCm39) D175G probably damaging Het
Map4k1 A G 7: 28,686,227 (GRCm39) Y81C probably damaging Het
Mpdu1 T A 11: 69,549,411 (GRCm39) T95S probably benign Het
Myl12b A T 17: 71,284,135 (GRCm39) I31N probably damaging Het
Ndufaf5 T A 2: 140,030,700 (GRCm39) Y195* probably null Het
Or4c119 G A 2: 88,987,157 (GRCm39) R121C possibly damaging Het
Or4d5 T C 9: 40,012,652 (GRCm39) I45V probably benign Het
Or51v15-ps1 A T 7: 103,278,790 (GRCm39) F126I probably benign Het
Or52z12 T A 7: 103,233,727 (GRCm39) I166N possibly damaging Het
Or5w17 A G 2: 87,584,223 (GRCm39) V38A probably benign Het
Oxgr1 T A 14: 120,259,431 (GRCm39) I259F possibly damaging Het
Pcdhb9 T A 18: 37,534,970 (GRCm39) D321E probably benign Het
Pi4kb G T 3: 94,900,461 (GRCm39) R392L probably damaging Het
Pramel18 G A 4: 101,767,291 (GRCm39) C180Y possibly damaging Het
Prss41 T C 17: 24,056,622 (GRCm39) K151R probably benign Het
Rev3l T A 10: 39,697,477 (GRCm39) V658D probably benign Het
Snx4 A G 16: 33,115,108 (GRCm39) I430V probably damaging Het
Tanc2 C T 11: 105,726,056 (GRCm39) H407Y possibly damaging Het
Tcf25 G A 8: 124,127,437 (GRCm39) probably null Het
Tsc22d1 A T 14: 76,743,923 (GRCm39) K24* probably null Het
Vmn2r30 A G 7: 7,315,547 (GRCm39) F762S probably damaging Het
Xrcc6 A G 15: 81,913,323 (GRCm39) T319A probably benign Het
Zbtb1 C T 12: 76,432,985 (GRCm39) R324* probably null Het
Zc3h7a A G 16: 10,963,535 (GRCm39) Y729H probably damaging Het
Zfp329 C A 7: 12,540,457 (GRCm39) probably benign Het
Zfp456 A T 13: 67,514,384 (GRCm39) S441T probably benign 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
IGL02963:Cfhr4 APN 1 139,659,334 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- GATCACCCTGTAAAACTAATACCTG -3'
(R):5'- TCAAGAATTCTGATCATCAGCGTTC -3'

Sequencing Primer
(F):5'- GTAAAACTAATACCTGTACCCCTTTC -3'
(R):5'- TCTGATCATCAGCGTTCTATATCTAC -3'
Posted On 2018-11-06