Mutagenetix > Incidental Mutation

Incidental Mutation 'R5979:Cfh'

529356

Institutional Source

Beutler Lab

Gene Symbol

Cfh

Ensembl Gene

ENSMUSG00000026365

Gene Name

complement component factor h

Synonyms

Mud-1, Sas1, Sas-1

MMRRC Submission

044161-MU

Accession Numbers

Genbank: NM_009888; MGI: 88385

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5979 (G1)

Quality Score

78.0075

Status

Validated

Chromosome

Chromosomal Location

140084708-140183764 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 140118671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 556 (V556F)

Ref Sequence

ENSEMBL: ENSMUSP00000107608 (fasta)

Gene Model

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

AlphaFold

P06909

Predicted Effect

probably benign
Transcript: ENSMUST00000066859
AA Change: V538F

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000066677
Gene: ENSMUSG00000026365
AA Change: V538F

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: V556F

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000107607
Gene: ENSMUSG00000026365
AA Change: V556F

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

possibly damaging
Transcript: ENSMUST00000111977
AA Change: V556F

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107608
Gene: ENSMUSG00000026365
AA Change: V556F

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

possibly damaging
Transcript: ENSMUST00000123238
AA Change: V538F

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115166
Gene: ENSMUSG00000026365
AA Change: V538F

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

unknown
Transcript: ENSMUST00000192919
AA Change: V269F

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (87/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,522,109	I103V	possibly damaging	Het
Adam3	T	C	8: 24,677,367	N36S	probably benign	Het
Adamts3	A	G	5: 89,861,669	V45A	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Agtpbp1	A	T	13: 59,534,046	L69*	probably null	Het
Alkbh5	T	A	11: 60,538,691	I90N	probably damaging	Het
Alx1	T	C	10: 103,022,259	Y193C	probably damaging	Het
Ankrd11	T	G	8: 122,892,400	D1571A	probably damaging	Het
Brd4	T	C	17: 32,198,726	D124G	probably benign	Het
C2cd2	G	A	16: 97,875,218	T443I	probably benign	Het
Casp8	A	T	1: 58,828,912	M171L	probably benign	Het
Cd200r4	G	A	16: 44,832,932	V22I	probably benign	Het
Cdcp2	A	G	4: 107,105,281	Y217C	probably damaging	Het
Chka	T	G	19: 3,884,513	I182M	probably damaging	Het
Cope	T	C	8: 70,302,543		probably null	Het
Coq10b	T	C	1: 55,052,918	V15A	probably benign	Het
Cpne9	T	A	6: 113,293,749	S309T	probably benign	Het
Daam2	T	A	17: 49,459,204	H992L	possibly damaging	Het
Dctn3	T	C	4: 41,715,393		probably null	Het
Dhx35	G	T	2: 158,842,869	R536L	probably benign	Het
Dnah8	G	T	17: 30,815,664	E4186*	probably null	Het
Dnah9	A	G	11: 65,834,481	L4282P	probably damaging	Het
Dpp10	A	G	1: 123,384,283		probably null	Het
Dst	T	A	1: 34,160,372		probably benign	Het
Ehbp1	C	A	11: 22,151,887	V214L	probably benign	Het
Fam131b	T	C	6: 42,321,971	D25G	probably damaging	Het
Fbxl13	T	A	5: 21,582,091	I283F	probably damaging	Het
Gabrr3	T	G	16: 59,434,568	N205K	possibly damaging	Het
Got1l1	C	T	8: 27,197,923		probably null	Het
Gprin1	G	A	13: 54,739,978	A161V	probably benign	Het
Hepacam2	A	T	6: 3,476,149	F183I	probably damaging	Het
Hmx2	A	G	7: 131,554,550	T82A	probably benign	Het
Igsf10	C	T	3: 59,336,473	E147K	probably damaging	Het
Kndc1	G	A	7: 139,939,827	A1700T	probably benign	Het
Knl1	T	C	2: 119,069,360	V514A	possibly damaging	Het
Lama2	T	C	10: 27,235,732	D764G	probably damaging	Het
Lgi3	G	A	14: 70,536,460	R358H	probably damaging	Het
Limd1	G	T	9: 123,479,414	Q59H	possibly damaging	Het
Lrrk2	A	G	15: 91,772,945	Y1814C	possibly damaging	Het
Lysmd3	G	A	13: 81,665,274		probably null	Het
Mroh7	T	C	4: 106,720,926	N185S	probably benign	Het
Muc2	A	G	7: 141,697,250		probably null	Het
Muc2	G	A	7: 141,751,406	G149D	probably damaging	Het
Nlrp3	T	C	11: 59,548,971	F458S	probably benign	Het
Nop58	A	T	1: 59,702,831	D173V	probably damaging	Het
Nrxn1	C	T	17: 91,088,203	R175H	possibly damaging	Het
Nxpe4	A	G	9: 48,396,562	N322S	probably benign	Het
Ocstamp	A	G	2: 165,397,547	S240P	probably damaging	Het
Olfr137	T	C	17: 38,305,192	K90E	probably benign	Het
Olfr311	A	G	11: 58,841,840	H242R	probably damaging	Het
Olfr713	G	A	7: 107,036,336	M60I	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Ovch2	G	A	7: 107,794,388	T177I	possibly damaging	Het
Parn	A	C	16: 13,606,171	L454R	probably damaging	Het
Pcdhb12	T	A	18: 37,437,991	L730Q	possibly damaging	Het
Phf3	G	T	1: 30,805,746	F1377L	probably damaging	Het
Pign	G	T	1: 105,589,274	S542R	probably benign	Het
Prex2	G	T	1: 11,132,372	V502F	probably damaging	Het
Psmd1	A	T	1: 86,090,053	I529F	possibly damaging	Het
Ptafr	A	G	4: 132,579,305	E2G	probably benign	Het
R3hdm1	A	G	1: 128,211,223	N380S	probably benign	Het
Rbm12	A	C	2: 156,097,759		probably benign	Het
Rgl1	A	G	1: 152,557,493	Y174H	probably damaging	Het
Rps6kc1	A	G	1: 190,800,435	S457P	probably damaging	Het
Sall4	A	T	2: 168,750,343	S964T	probably benign	Het
Sart1	T	A	19: 5,381,223	I681F	probably damaging	Het
Serinc5	T	C	13: 92,661,136	L49P	probably benign	Het
Serpinb9e	T	C	13: 33,255,053	V154A	probably benign	Het
Skiv2l	A	T	17: 34,841,463	N851K	probably benign	Het
Smox	G	A	2: 131,516,414	V136I	probably damaging	Het
Sspo	C	T	6: 48,463,693	T1747I	probably benign	Het
Swt1	A	T	1: 151,407,588	D339E	possibly damaging	Het
Synpo2	A	G	3: 123,117,411	L195P	probably damaging	Het
Syt7	G	T	19: 10,443,479	G414W	probably damaging	Het
Tmem186	G	A	16: 8,636,160	T79I	probably damaging	Het
Tmem39a	A	T	16: 38,575,744	N113I	probably damaging	Het
Trim14	C	T	4: 46,507,239	V326M	probably damaging	Het
Trim58	A	G	11: 58,646,083	E234G	probably damaging	Het
Ttr	T	C	18: 20,670,002	L75P	probably damaging	Het
Ubr1	C	T	2: 120,946,382	V293I	probably benign	Het
Vmn1r91	T	A	7: 20,102,065	V303E	probably benign	Het
Vmn2r30	A	C	7: 7,312,335	I833S	probably damaging	Het
Zfp131	G	T	13: 119,776,446	N125K	probably benign	Het
Zfp169	A	T	13: 48,491,040		probably benign	Het
Zfp213	C	A	17: 23,557,911	E386*	probably null	Het

Other mutations in Cfh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Cfh	APN	1	140088682	missense	probably damaging	1.00
IGL01124:Cfh	APN	1	140183261	missense	probably benign	0.01
IGL01389:Cfh	APN	1	140154639	missense	probably benign	0.44
IGL01455:Cfh	APN	1	140105539	missense	possibly damaging	0.51
IGL01877:Cfh	APN	1	140100829	missense	probably damaging	1.00
IGL02836:Cfh	APN	1	140102399	missense	probably damaging	1.00
IGL02937:Cfh	APN	1	140105442	missense	probably benign	0.19
IGL03039:Cfh	APN	1	140136261	missense	possibly damaging	0.86
IGL03069:Cfh	APN	1	140099055	intron	probably benign
IGL03192:Cfh	APN	1	140099021	missense	possibly damaging	0.71
IGL03201:Cfh	APN	1	140102819	missense	probably damaging	1.00
3-1:Cfh	UTSW	1	140163125	missense	probably damaging	1.00
PIT4449001:Cfh	UTSW	1	140112565	missense	probably damaging	1.00
R0257:Cfh	UTSW	1	140144035	missense	probably benign	0.01
R0294:Cfh	UTSW	1	140183261	missense	probably benign	0.01
R0571:Cfh	UTSW	1	140102333	splice site	probably null
R0576:Cfh	UTSW	1	140136815	missense	probably damaging	0.99
R0586:Cfh	UTSW	1	140183182	missense	probably damaging	0.98
R0605:Cfh	UTSW	1	140102358	missense	probably damaging	1.00
R0617:Cfh	UTSW	1	140100883	missense	probably benign	0.01
R0725:Cfh	UTSW	1	140157343	splice site	probably benign
R0853:Cfh	UTSW	1	140105490	missense	probably damaging	1.00
R1430:Cfh	UTSW	1	140102698	splice site	probably benign
R1500:Cfh	UTSW	1	140100876	missense	probably damaging	1.00
R1533:Cfh	UTSW	1	140100978	missense	possibly damaging	0.86
R1667:Cfh	UTSW	1	140105523	missense	probably benign	0.01
R1695:Cfh	UTSW	1	140102837	missense	probably damaging	0.98
R1728:Cfh	UTSW	1	140147697	missense	possibly damaging	0.55
R1729:Cfh	UTSW	1	140136788	missense	probably benign	0.02
R1729:Cfh	UTSW	1	140147697	missense	possibly damaging	0.55
R1730:Cfh	UTSW	1	140147697	missense	possibly damaging	0.55
R1739:Cfh	UTSW	1	140136788	missense	probably benign	0.02
R1739:Cfh	UTSW	1	140147697	missense	possibly damaging	0.55
R1756:Cfh	UTSW	1	140100877	missense	probably damaging	1.00
R1762:Cfh	UTSW	1	140136788	missense	probably benign	0.02
R1762:Cfh	UTSW	1	140147697	missense	possibly damaging	0.55
R1783:Cfh	UTSW	1	140147697	missense	possibly damaging	0.55
R1784:Cfh	UTSW	1	140147697	missense	possibly damaging	0.55
R1785:Cfh	UTSW	1	140136788	missense	probably benign	0.02
R1785:Cfh	UTSW	1	140147697	missense	possibly damaging	0.55
R1912:Cfh	UTSW	1	140136141	splice site	probably null
R2273:Cfh	UTSW	1	140102825	missense	probably damaging	1.00
R2288:Cfh	UTSW	1	140098901	missense	possibly damaging	0.70
R3725:Cfh	UTSW	1	140086496	missense	probably damaging	0.99
R3731:Cfh	UTSW	1	140119970	missense	possibly damaging	0.71
R4060:Cfh	UTSW	1	140119926	missense	possibly damaging	0.91
R4192:Cfh	UTSW	1	140102716	missense	possibly damaging	0.50
R4226:Cfh	UTSW	1	140108926	missense	probably damaging	1.00
R4425:Cfh	UTSW	1	140100875	nonsense	probably null
R4431:Cfh	UTSW	1	140136266	missense	probably damaging	1.00
R4712:Cfh	UTSW	1	140108536	missense	probably damaging	1.00
R4755:Cfh	UTSW	1	140088808	missense	probably damaging	1.00
R4792:Cfh	UTSW	1	140100823	nonsense	probably null
R4831:Cfh	UTSW	1	140086387	missense	probably benign
R5052:Cfh	UTSW	1	140144044	missense	probably damaging	0.96
R5181:Cfh	UTSW	1	140147646	splice site	probably benign
R5205:Cfh	UTSW	1	140143970	missense	probably damaging	1.00
R5285:Cfh	UTSW	1	140100898	missense	probably benign	0.21
R5366:Cfh	UTSW	1	140136235	missense	probably damaging	1.00
R5776:Cfh	UTSW	1	140144023	missense	possibly damaging	0.83
R5914:Cfh	UTSW	1	140136229	missense	probably benign	0.39
R5948:Cfh	UTSW	1	140108808	missense	probably damaging	0.96
R6034:Cfh	UTSW	1	140163131	missense	probably damaging	0.98
R6034:Cfh	UTSW	1	140163131	missense	probably damaging	0.98
R6059:Cfh	UTSW	1	140118690	missense	possibly damaging	0.92
R6198:Cfh	UTSW	1	140105440	missense	probably damaging	1.00
R6306:Cfh	UTSW	1	140102417	missense	probably damaging	1.00
R6523:Cfh	UTSW	1	140101707	missense	possibly damaging	0.82
R6610:Cfh	UTSW	1	140101748	nonsense	probably null
R6652:Cfh	UTSW	1	140144068	missense	probably benign	0.39
R6852:Cfh	UTSW	1	140147749	missense	probably damaging	1.00
R6861:Cfh	UTSW	1	140100883	missense	probably benign	0.07
R6862:Cfh	UTSW	1	140102362	missense	probably damaging	1.00
R7065:Cfh	UTSW	1	140086402	missense	probably damaging	0.99
R7191:Cfh	UTSW	1	140112567	missense	probably benign	0.04
R7197:Cfh	UTSW	1	140088767	nonsense	probably null
R7355:Cfh	UTSW	1	140136815	missense	probably damaging	1.00
R7367:Cfh	UTSW	1	140086521	missense	probably damaging	0.97
R7419:Cfh	UTSW	1	140105466	missense	probably damaging	0.99
R7579:Cfh	UTSW	1	140108590	missense	possibly damaging	0.53
R7586:Cfh	UTSW	1	140147721	missense	probably damaging	0.99
R7985:Cfh	UTSW	1	140108826	missense	probably damaging	1.00
R8119:Cfh	UTSW	1	140120015	missense	possibly damaging	0.95
R8277:Cfh	UTSW	1	140101609	missense	probably damaging	1.00
R8742:Cfh	UTSW	1	140101652	missense	probably damaging	0.98
R8742:Cfh	UTSW	1	140136731	missense	probably damaging	0.97
R8743:Cfh	UTSW	1	140118585	critical splice donor site	probably null
R8874:Cfh	UTSW	1	140086421	missense	probably damaging	1.00
R8909:Cfh	UTSW	1	140086348	missense	possibly damaging	0.47
R8949:Cfh	UTSW	1	140098967	missense	probably damaging	0.98
R9126:Cfh	UTSW	1	140086373	missense	probably damaging	0.98
R9309:Cfh	UTSW	1	140154511	missense	probably damaging	0.99
R9441:Cfh	UTSW	1	140102411	missense	probably benign	0.08
R9502:Cfh	UTSW	1	140112582	missense	possibly damaging	0.85
R9544:Cfh	UTSW	1	140108528	missense	probably benign	0.14
R9559:Cfh	UTSW	1	140102537	missense	probably benign	0.32
R9616:Cfh	UTSW	1	140102516	missense	probably damaging	0.99
R9617:Cfh	UTSW	1	140162980	missense	possibly damaging	0.53
R9733:Cfh	UTSW	1	140088795	missense	probably damaging	1.00
R9748:Cfh	UTSW	1	140162949	critical splice donor site	probably null
R9788:Cfh	UTSW	1	140108761	missense	probably benign	0.01
T0975:Cfh	UTSW	1	140154598	missense	probably benign	0.05
Z1088:Cfh	UTSW	1	140108904	missense	probably benign	0.04
Z1088:Cfh	UTSW	1	140147718	missense	possibly damaging	0.77
Z1177:Cfh	UTSW	1	140144059	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATCCAGGGTCCTAATTGTTAG -3'
(R):5'- AATTATTGTTGGTCTCCTTAGGCTC -3'

Sequencing Primer
(F):5'- GTGAGAGTCCTTGCCTCTAAACCAG -3'
(R):5'- GGTCTCCTTAGGCTCCTTCTATACTG -3'

Posted On

2018-07-31