Mutagenetix > Incidental Mutation

Incidental Mutation 'R7191:Cfh'

559573

Institutional Source

Beutler Lab

Gene Symbol

Cfh

Ensembl Gene

ENSMUSG00000026365

Gene Name

complement component factor h

Synonyms

Sas-1, Mud-1, Sas1

MMRRC Submission

045274-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R7191 (G1)

Quality Score

122.008

Status

Validated

Chromosome

Chromosomal Location

140013593-140111149 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 140040305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 597 (V597G)

Ref Sequence

ENSEMBL: ENSMUSP00000107607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066859] [ENSMUST00000111976] [ENSMUST00000111977] [ENSMUST00000123238] [ENSMUST00000192880]

AlphaFold

P06909

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066859
AA Change: V579G

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066677
Gene: ENSMUSG00000026365
AA Change: V579G

Domain	Start	End	E-Value	Type
CCP	21	80	7.75e-8	SMART
CCP	85	141	2.17e-11	SMART
CCP	146	205	7.5e-15	SMART
CCP	210	262	6.29e-8	SMART
CCP	267	320	2.04e-7	SMART
CCP	325	385	6.35e-4	SMART
CCP	389	442	1.15e-10	SMART
CCP	448	505	3.62e-8	SMART
CCP	509	564	6.45e-5	SMART
CCP	569	622	5.56e-9	SMART
CCP	629	683	3.45e-14	SMART
CCP	690	743	1.82e-13	SMART
CCP	752	802	6.59e-1	SMART
CCP	808	861	1.04e-8	SMART
CCP	867	931	4.66e-11	SMART
CCP	936	989	3.9e-13	SMART
CCP	994	1048	1.4e-14	SMART
CCP	1053	1107	2.09e-13	SMART
CCP	1114	1168	8.04e-15	SMART
CCP	1172	1233	5.57e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111976
AA Change: V597G

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107607
Gene: ENSMUSG00000026365
AA Change: V597G

Domain	Start	End	E-Value	Type
CCP	39	98	7.75e-8	SMART
CCP	103	159	2.17e-11	SMART
CCP	164	223	7.5e-15	SMART
CCP	228	280	6.29e-8	SMART
CCP	285	338	2.04e-7	SMART
CCP	343	403	6.35e-4	SMART
CCP	407	460	1.15e-10	SMART
CCP	466	523	3.62e-8	SMART
CCP	527	582	6.45e-5	SMART
CCP	587	640	5.56e-9	SMART
CCP	647	701	3.45e-14	SMART
CCP	708	761	1.82e-13	SMART
CCP	770	820	6.59e-1	SMART
CCP	826	879	1.04e-8	SMART
CCP	885	949	4.66e-11	SMART
CCP	954	1007	3.9e-13	SMART
CCP	1012	1066	1.4e-14	SMART
CCP	1071	1125	2.09e-13	SMART
CCP	1132	1186	8.04e-15	SMART
CCP	1190	1251	5.57e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111977

SMART Domains

Protein: ENSMUSP00000107608
Gene: ENSMUSG00000026365

Domain	Start	End	E-Value	Type
CCP	21	80	7.75e-8	SMART
CCP	85	141	2.17e-11	SMART
CCP	146	205	7.5e-15	SMART
CCP	210	262	6.29e-8	SMART
CCP	267	320	2.04e-7	SMART
CCP	325	385	6.35e-4	SMART
CCP	389	442	1.15e-10	SMART
CCP	448	505	3.62e-8	SMART
CCP	509	564	6.45e-5	SMART
CCP	572	626	3.45e-14	SMART
CCP	633	686	1.82e-13	SMART
CCP	695	745	6.59e-1	SMART
CCP	751	804	1.04e-8	SMART
CCP	810	874	4.66e-11	SMART
CCP	879	932	3.9e-13	SMART
CCP	937	991	1.4e-14	SMART
CCP	996	1050	2.09e-13	SMART
CCP	1057	1111	8.04e-15	SMART
CCP	1115	1176	5.57e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000123238
AA Change: V579G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115166
Gene: ENSMUSG00000026365
AA Change: V579G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
CCP	21	80	7.75e-8	SMART
CCP	85	141	2.17e-11	SMART
CCP	146	205	7.5e-15	SMART
CCP	210	262	6.29e-8	SMART
CCP	267	320	2.04e-7	SMART
CCP	325	385	6.35e-4	SMART
CCP	389	442	1.15e-10	SMART
CCP	448	505	3.62e-8	SMART
CCP	509	564	6.45e-5	SMART
CCP	569	622	5.56e-9	SMART
CCP	629	683	3.45e-14	SMART
CCP	690	743	1.82e-13	SMART
CCP	752	802	6.59e-1	SMART
CCP	808	861	1.04e-8	SMART
CCP	867	931	4.66e-11	SMART
CCP	936	989	3.9e-13	SMART
CCP	994	1048	1.4e-14	SMART
CCP	1053	1107	2.09e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192880

SMART Domains

Protein: ENSMUSP00000141209
Gene: ENSMUSG00000026365

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
CCP	39	98	3.9e-10	SMART
CCP	103	159	1e-13	SMART
CCP	164	223	3.7e-17	SMART
CCP	228	280	3.1e-10	SMART
CCP	285	338	9.9e-10	SMART
CCP	343	403	3.2e-6	SMART
CCP	407	460	5.6e-13	SMART
CCP	467	521	6.7e-17	SMART
CCP	526	580	1e-15	SMART
CCP	587	641	3.8e-17	SMART
CCP	645	706	2.7e-2	SMART

Predicted Effect

Meta Mutation Damage Score

0.1710

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutation of this gene results in markedly reduced serum C3, abnormal renal histology, spontaneous membranoproliferative glomerulonephritis (MPGN), hematuria, proteinuria, and increased mortality at 8 months of age. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Targeted, other(1)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	A	16: 21,472,314 (GRCm39)	I129F	probably benign	Het
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Ank2	T	A	3: 126,740,041 (GRCm39)	T1948S	unknown	Het
Arap1	T	C	7: 101,034,199 (GRCm39)	C214R	probably benign	Het
Ccdc82	C	T	9: 13,252,097 (GRCm39)	Q130*	probably null	Het
Clp1	A	T	2: 84,554,490 (GRCm39)	C226*	probably null	Het
Cyp39a1	G	A	17: 44,041,910 (GRCm39)	W372*	probably null	Het
Dchs1	G	A	7: 105,414,646 (GRCm39)	P799S	possibly damaging	Het
Dmbt1	A	T	7: 130,646,250 (GRCm39)	N167I	unknown	Het
Dock10	A	G	1: 80,518,048 (GRCm39)	S1310P	possibly damaging	Het
Fam83h	C	T	15: 75,874,886 (GRCm39)	G817D	probably damaging	Het
Fras1	A	G	5: 96,762,771 (GRCm39)	T758A	probably benign	Het
Fryl	T	C	5: 73,230,255 (GRCm39)	H1634R	probably damaging	Het
Gcg	C	G	2: 62,307,183 (GRCm39)	G126A	probably damaging	Het
Get1	A	G	16: 95,953,145 (GRCm39)	I79V	possibly damaging	Het
Gne	T	C	4: 44,040,266 (GRCm39)	K633E	probably benign	Het
Gpr4	T	C	7: 18,957,155 (GRCm39)	V359A	probably benign	Het
Gprc5c	C	T	11: 114,759,443 (GRCm39)	T422M	possibly damaging	Het
Gria2	C	A	3: 80,639,392 (GRCm39)	V207L	probably benign	Het
Hid1	T	C	11: 115,239,295 (GRCm39)	*789W	probably null	Het
Iigp1c	A	T	18: 60,379,329 (GRCm39)	D288V	probably benign	Het
Jakmip3	G	A	7: 138,591,257 (GRCm39)		probably null	Het
Kin	G	A	2: 10,096,604 (GRCm39)	R151Q	probably benign	Het
Krt16	T	C	11: 100,137,484 (GRCm39)	E407G	probably damaging	Het
Krt81	T	C	15: 101,358,110 (GRCm39)	D381G	probably damaging	Het
Lrrc34	C	T	3: 30,679,027 (GRCm39)	G357S	possibly damaging	Het
Lypd11	C	T	7: 24,422,759 (GRCm39)	V105I	possibly damaging	Het
Mipol1	A	G	12: 57,503,852 (GRCm39)	Q340R	probably benign	Het
Mpzl3	T	G	9: 44,966,542 (GRCm39)	M1R	probably null	Het
Nrcam	A	G	12: 44,619,027 (GRCm39)	N852S	probably benign	Het
Nudcd2	C	T	11: 40,627,430 (GRCm39)	Q117*	probably null	Het
Nup35	A	T	2: 80,488,723 (GRCm39)	E320V	probably damaging	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or5p56	G	A	7: 107,589,853 (GRCm39)	V94M	possibly damaging	Het
Pkhd1	T	C	1: 20,628,943 (GRCm39)	H668R	probably benign	Het
Ptprc	T	A	1: 138,028,782 (GRCm39)	D333V	probably benign	Het
Rdh16	A	G	10: 127,649,287 (GRCm39)	K248E	probably benign	Het
Samd4b	C	A	7: 28,113,686 (GRCm39)	G93V	probably benign	Het
Scgn	A	G	13: 24,165,476 (GRCm39)	I78T	probably benign	Het
Slfn14	T	C	11: 83,167,575 (GRCm39)	I647V	probably benign	Het
Smyd5	T	C	6: 85,417,093 (GRCm39)	V157A	probably benign	Het
Syde2	T	C	3: 145,708,113 (GRCm39)	M951T	probably benign	Het
Tas2r105	T	C	6: 131,663,945 (GRCm39)	N161S	probably damaging	Het
Tbck	T	C	3: 132,443,316 (GRCm39)	F581L	probably damaging	Het
Traip	A	G	9: 107,847,216 (GRCm39)	N352D	probably benign	Het
Trim29	A	G	9: 43,222,906 (GRCm39)	Y245C	probably damaging	Het
Trpv4	T	C	5: 114,771,201 (GRCm39)	I443V	probably benign	Het
Usp36	C	T	11: 118,159,660 (GRCm39)	E595K	probably benign	Het
Vmn2r51	T	A	7: 9,834,480 (GRCm39)	Y186F	probably null	Het
Vmn2r97	A	G	17: 19,150,548 (GRCm39)	Y465C	probably damaging	Het
Zfp277	A	T	12: 40,379,561 (GRCm39)	H324Q	probably damaging	Het
Zfp987	A	G	4: 146,058,473 (GRCm39)	D17G	probably damaging	Het

Other mutations in Cfh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Cfh	APN	1	140,016,420 (GRCm39)	missense	probably damaging	1.00
IGL01124:Cfh	APN	1	140,110,999 (GRCm39)	missense	probably benign	0.01
IGL01389:Cfh	APN	1	140,082,377 (GRCm39)	missense	probably benign	0.44
IGL01455:Cfh	APN	1	140,033,277 (GRCm39)	missense	possibly damaging	0.51
IGL01877:Cfh	APN	1	140,028,567 (GRCm39)	missense	probably damaging	1.00
IGL02836:Cfh	APN	1	140,030,137 (GRCm39)	missense	probably damaging	1.00
IGL02937:Cfh	APN	1	140,033,180 (GRCm39)	missense	probably benign	0.19
IGL03039:Cfh	APN	1	140,063,999 (GRCm39)	missense	possibly damaging	0.86
IGL03069:Cfh	APN	1	140,026,793 (GRCm39)	intron	probably benign
IGL03192:Cfh	APN	1	140,026,759 (GRCm39)	missense	possibly damaging	0.71
IGL03201:Cfh	APN	1	140,030,557 (GRCm39)	missense	probably damaging	1.00
3-1:Cfh	UTSW	1	140,090,863 (GRCm39)	missense	probably damaging	1.00
PIT4449001:Cfh	UTSW	1	140,040,303 (GRCm39)	missense	probably damaging	1.00
R0257:Cfh	UTSW	1	140,071,773 (GRCm39)	missense	probably benign	0.01
R0294:Cfh	UTSW	1	140,110,999 (GRCm39)	missense	probably benign	0.01
R0571:Cfh	UTSW	1	140,030,071 (GRCm39)	splice site	probably null
R0576:Cfh	UTSW	1	140,064,553 (GRCm39)	missense	probably damaging	0.99
R0586:Cfh	UTSW	1	140,110,920 (GRCm39)	missense	probably damaging	0.98
R0605:Cfh	UTSW	1	140,030,096 (GRCm39)	missense	probably damaging	1.00
R0617:Cfh	UTSW	1	140,028,621 (GRCm39)	missense	probably benign	0.01
R0725:Cfh	UTSW	1	140,085,081 (GRCm39)	splice site	probably benign
R0853:Cfh	UTSW	1	140,033,228 (GRCm39)	missense	probably damaging	1.00
R1430:Cfh	UTSW	1	140,030,436 (GRCm39)	splice site	probably benign
R1500:Cfh	UTSW	1	140,028,614 (GRCm39)	missense	probably damaging	1.00
R1533:Cfh	UTSW	1	140,028,716 (GRCm39)	missense	possibly damaging	0.86
R1667:Cfh	UTSW	1	140,033,261 (GRCm39)	missense	probably benign	0.01
R1695:Cfh	UTSW	1	140,030,575 (GRCm39)	missense	probably damaging	0.98
R1728:Cfh	UTSW	1	140,075,435 (GRCm39)	missense	possibly damaging	0.55
R1729:Cfh	UTSW	1	140,064,526 (GRCm39)	missense	probably benign	0.02
R1729:Cfh	UTSW	1	140,075,435 (GRCm39)	missense	possibly damaging	0.55
R1730:Cfh	UTSW	1	140,075,435 (GRCm39)	missense	possibly damaging	0.55
R1739:Cfh	UTSW	1	140,075,435 (GRCm39)	missense	possibly damaging	0.55
R1739:Cfh	UTSW	1	140,064,526 (GRCm39)	missense	probably benign	0.02
R1756:Cfh	UTSW	1	140,028,615 (GRCm39)	missense	probably damaging	1.00
R1762:Cfh	UTSW	1	140,075,435 (GRCm39)	missense	possibly damaging	0.55
R1762:Cfh	UTSW	1	140,064,526 (GRCm39)	missense	probably benign	0.02
R1783:Cfh	UTSW	1	140,075,435 (GRCm39)	missense	possibly damaging	0.55
R1784:Cfh	UTSW	1	140,075,435 (GRCm39)	missense	possibly damaging	0.55
R1785:Cfh	UTSW	1	140,075,435 (GRCm39)	missense	possibly damaging	0.55
R1785:Cfh	UTSW	1	140,064,526 (GRCm39)	missense	probably benign	0.02
R1912:Cfh	UTSW	1	140,063,879 (GRCm39)	splice site	probably null
R2273:Cfh	UTSW	1	140,030,563 (GRCm39)	missense	probably damaging	1.00
R2288:Cfh	UTSW	1	140,026,639 (GRCm39)	missense	possibly damaging	0.70
R3725:Cfh	UTSW	1	140,014,234 (GRCm39)	missense	probably damaging	0.99
R3731:Cfh	UTSW	1	140,047,708 (GRCm39)	missense	possibly damaging	0.71
R4060:Cfh	UTSW	1	140,047,664 (GRCm39)	missense	possibly damaging	0.91
R4192:Cfh	UTSW	1	140,030,454 (GRCm39)	missense	possibly damaging	0.50
R4226:Cfh	UTSW	1	140,036,664 (GRCm39)	missense	probably damaging	1.00
R4425:Cfh	UTSW	1	140,028,613 (GRCm39)	nonsense	probably null
R4431:Cfh	UTSW	1	140,064,004 (GRCm39)	missense	probably damaging	1.00
R4712:Cfh	UTSW	1	140,036,274 (GRCm39)	missense	probably damaging	1.00
R4755:Cfh	UTSW	1	140,016,546 (GRCm39)	missense	probably damaging	1.00
R4792:Cfh	UTSW	1	140,028,561 (GRCm39)	nonsense	probably null
R4831:Cfh	UTSW	1	140,014,125 (GRCm39)	missense	probably benign
R5052:Cfh	UTSW	1	140,071,782 (GRCm39)	missense	probably damaging	0.96
R5181:Cfh	UTSW	1	140,075,384 (GRCm39)	splice site	probably benign
R5205:Cfh	UTSW	1	140,071,708 (GRCm39)	missense	probably damaging	1.00
R5285:Cfh	UTSW	1	140,028,636 (GRCm39)	missense	probably benign	0.21
R5366:Cfh	UTSW	1	140,063,973 (GRCm39)	missense	probably damaging	1.00
R5776:Cfh	UTSW	1	140,071,761 (GRCm39)	missense	possibly damaging	0.83
R5914:Cfh	UTSW	1	140,063,967 (GRCm39)	missense	probably benign	0.39
R5948:Cfh	UTSW	1	140,036,546 (GRCm39)	missense	probably damaging	0.96
R5979:Cfh	UTSW	1	140,046,409 (GRCm39)	missense	possibly damaging	0.66
R6034:Cfh	UTSW	1	140,090,869 (GRCm39)	missense	probably damaging	0.98
R6034:Cfh	UTSW	1	140,090,869 (GRCm39)	missense	probably damaging	0.98
R6059:Cfh	UTSW	1	140,046,428 (GRCm39)	missense	possibly damaging	0.92
R6198:Cfh	UTSW	1	140,033,178 (GRCm39)	missense	probably damaging	1.00
R6306:Cfh	UTSW	1	140,030,155 (GRCm39)	missense	probably damaging	1.00
R6523:Cfh	UTSW	1	140,029,445 (GRCm39)	missense	possibly damaging	0.82
R6610:Cfh	UTSW	1	140,029,486 (GRCm39)	nonsense	probably null
R6652:Cfh	UTSW	1	140,071,806 (GRCm39)	missense	probably benign	0.39
R6852:Cfh	UTSW	1	140,075,487 (GRCm39)	missense	probably damaging	1.00
R6861:Cfh	UTSW	1	140,028,621 (GRCm39)	missense	probably benign	0.07
R6862:Cfh	UTSW	1	140,030,100 (GRCm39)	missense	probably damaging	1.00
R7065:Cfh	UTSW	1	140,014,140 (GRCm39)	missense	probably damaging	0.99
R7197:Cfh	UTSW	1	140,016,505 (GRCm39)	nonsense	probably null
R7355:Cfh	UTSW	1	140,064,553 (GRCm39)	missense	probably damaging	1.00
R7367:Cfh	UTSW	1	140,014,259 (GRCm39)	missense	probably damaging	0.97
R7419:Cfh	UTSW	1	140,033,204 (GRCm39)	missense	probably damaging	0.99
R7579:Cfh	UTSW	1	140,036,328 (GRCm39)	missense	possibly damaging	0.53
R7586:Cfh	UTSW	1	140,075,459 (GRCm39)	missense	probably damaging	0.99
R7985:Cfh	UTSW	1	140,036,564 (GRCm39)	missense	probably damaging	1.00
R8119:Cfh	UTSW	1	140,047,753 (GRCm39)	missense	possibly damaging	0.95
R8277:Cfh	UTSW	1	140,029,347 (GRCm39)	missense	probably damaging	1.00
R8742:Cfh	UTSW	1	140,029,390 (GRCm39)	missense	probably damaging	0.98
R8742:Cfh	UTSW	1	140,064,469 (GRCm39)	missense	probably damaging	0.97
R8743:Cfh	UTSW	1	140,046,323 (GRCm39)	critical splice donor site	probably null
R8874:Cfh	UTSW	1	140,014,159 (GRCm39)	missense	probably damaging	1.00
R8909:Cfh	UTSW	1	140,014,086 (GRCm39)	missense	possibly damaging	0.47
R8949:Cfh	UTSW	1	140,026,705 (GRCm39)	missense	probably damaging	0.98
R9126:Cfh	UTSW	1	140,014,111 (GRCm39)	missense	probably damaging	0.98
R9309:Cfh	UTSW	1	140,082,249 (GRCm39)	missense	probably damaging	0.99
R9441:Cfh	UTSW	1	140,030,149 (GRCm39)	missense	probably benign	0.08
R9502:Cfh	UTSW	1	140,040,320 (GRCm39)	missense	possibly damaging	0.85
R9544:Cfh	UTSW	1	140,036,266 (GRCm39)	missense	probably benign	0.14
R9559:Cfh	UTSW	1	140,030,275 (GRCm39)	missense	probably benign	0.32
R9616:Cfh	UTSW	1	140,030,254 (GRCm39)	missense	probably damaging	0.99
R9617:Cfh	UTSW	1	140,090,718 (GRCm39)	missense	possibly damaging	0.53
R9733:Cfh	UTSW	1	140,016,533 (GRCm39)	missense	probably damaging	1.00
R9748:Cfh	UTSW	1	140,090,687 (GRCm39)	critical splice donor site	probably null
R9788:Cfh	UTSW	1	140,036,499 (GRCm39)	missense	probably benign	0.01
T0975:Cfh	UTSW	1	140,082,336 (GRCm39)	missense	probably benign	0.05
Z1088:Cfh	UTSW	1	140,075,456 (GRCm39)	missense	possibly damaging	0.77
Z1088:Cfh	UTSW	1	140,036,642 (GRCm39)	missense	probably benign	0.04
Z1177:Cfh	UTSW	1	140,071,797 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGGATGTCAATTTCCCTGAAAC -3'
(R):5'- GAGGCTATATTAGTGCTAGTATGCAAC -3'

Sequencing Primer
(F):5'- GATGTCAATTTCCCTGAAACTTTTAG -3'
(R):5'- CTTCCCTGTGAATGTCCA -3'

Posted On

2019-06-26