Mutagenetix > Incidental Mutation

Incidental Mutation 'R0605:Cfh'

55617

Institutional Source

Beutler Lab

Gene Symbol

Cfh

Ensembl Gene

ENSMUSG00000026365

Gene Name

complement component factor h

Synonyms

Mud-1, Sas1, Sas-1

MMRRC Submission

038794-MU

Accession Numbers

Genbank: NM_009888; MGI: 88385

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R0605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140084708-140183764 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140102358 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 926 (S926G)

Ref Sequence

ENSEMBL: ENSMUSP00000115166 (fasta)

Gene Model

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

AlphaFold

P06909

Predicted Effect

probably damaging
Transcript: ENSMUST00000066859
AA Change: S926G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066677
Gene: ENSMUSG00000026365
AA Change: S926G

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 damaging
Transcript: ENSMUST00000111976
AA Change: S944G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107607
Gene: ENSMUSG00000026365
AA Change: S944G

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 damaging
Transcript: ENSMUST00000111977
AA Change: S887G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107608
Gene: ENSMUSG00000026365
AA Change: S887G

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: S926G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115166
Gene: ENSMUSG00000026365
AA Change: S926G

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

probably benign
Transcript: ENSMUST00000192919

Meta Mutation Damage Score

0.3573

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

100% (85/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	G	A	10: 20,311,227		probably benign	Het
Adam28	A	T	14: 68,606,600		probably benign	Het
Adamts3	A	G	5: 89,861,475	W110R	possibly damaging	Het
Add1	T	C	5: 34,614,224	V342A	possibly damaging	Het
Aff3	A	G	1: 38,209,987	S680P	probably damaging	Het
Ak9	T	C	10: 41,345,139	Y322H	probably damaging	Het
Als2	A	G	1: 59,168,414	L1528S	probably benign	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Atp6v1a	A	C	16: 44,111,496		probably null	Het
Bpi	T	C	2: 158,261,394	L103P	probably damaging	Het
Cd80	G	A	16: 38,482,694	V168I	probably benign	Het
Chrd	A	T	16: 20,735,439	T304S	probably damaging	Het
Chsy3	A	G	18: 59,409,053	Y421C	probably damaging	Het
Cmbl	T	G	15: 31,585,309	V101G	probably damaging	Het
Colgalt2	T	A	1: 152,495,792		probably benign	Het
Coq4	C	T	2: 29,789,998	Q101*	probably null	Het
Cr2	T	C	1: 195,163,596		probably benign	Het
Cry1	T	C	10: 85,184,359	D38G	probably damaging	Het
Dmxl2	T	C	9: 54,419,945	D758G	probably benign	Het
Epsti1	C	T	14: 77,927,237		probably benign	Het
Fam24b	T	C	7: 131,327,186		probably benign	Het
Fem1c	G	A	18: 46,505,160	R592C	probably benign	Het
Foxred1	T	C	9: 35,204,882	Y490C	possibly damaging	Het
Gm14124	A	G	2: 150,268,603	I404M	unknown	Het
Gm9875	A	G	2: 13,557,888	K9R	unknown	Het
Grid2ip	T	C	5: 143,379,362	S322P	probably damaging	Het
Gucy1b2	A	G	14: 62,403,159		probably benign	Het
Hmcn1	A	T	1: 150,657,376		probably null	Het
Hpdl	C	T	4: 116,820,787	S159N	possibly damaging	Het
Hsd17b12	A	T	2: 94,033,642	M285K	probably benign	Het
Icam5	T	C	9: 21,032,197	I23T	probably benign	Het
Kat5	A	G	19: 5,608,336		probably benign	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lamb2	T	C	9: 108,486,105		probably benign	Het
Lgals3bp	A	G	11: 118,393,394	F453S	probably damaging	Het
Lypd4	A	G	7: 24,865,375	Y113H	probably damaging	Het
Mdm1	C	T	10: 118,146,601	T47M	probably damaging	Het
Mei1	C	A	15: 82,070,150	T52K	probably benign	Het
Meiob	G	A	17: 24,818,262		probably benign	Het
Ndufaf6	A	G	4: 11,051,224	V292A	probably damaging	Het
Neb	T	A	2: 52,264,026	M2358L	possibly damaging	Het
Nlrp1b	A	G	11: 71,156,179	S1119P	possibly damaging	Het
Nsmaf	A	G	4: 6,418,470		probably null	Het
Ogfod1	T	C	8: 94,047,267		probably benign	Het
Olfr1097	T	C	2: 86,890,419	Y252C	possibly damaging	Het
Olfr1410	G	T	1: 92,607,896	V20L	probably benign	Het
Olfr291	T	C	7: 84,857,137	I256T	probably damaging	Het
Osbpl1a	T	A	18: 12,882,279		probably null	Het
Otud7b	T	A	3: 96,144,959		probably benign	Het
P3h3	T	A	6: 124,856,035	H185L	probably damaging	Het
P4htm	G	A	9: 108,583,724	A183V	probably null	Het
Peak1	C	T	9: 56,227,098		probably benign	Het
Phf20l1	A	G	15: 66,595,122	K88R	probably damaging	Het
Phlpp2	A	G	8: 109,933,211	N721S	probably benign	Het
Plagl2	T	C	2: 153,235,944	K39R	probably benign	Het
Plppr1	A	T	4: 49,323,466	N252I	probably damaging	Het
Pom121l2	C	T	13: 21,982,036	A159V	probably damaging	Het
Prom2	C	A	2: 127,539,995		probably null	Het
Prrc2c	T	C	1: 162,682,426	T1017A	probably damaging	Het
Rimbp3	G	T	16: 17,211,699	A996S	probably damaging	Het
Rnf213	A	G	11: 119,431,717	T1387A	probably benign	Het
Scaper	A	T	9: 55,815,518		probably benign	Het
Scara5	A	G	14: 65,759,648	E403G	possibly damaging	Het
Scrib	T	C	15: 76,067,553	I94V	possibly damaging	Het
Shank3	T	C	15: 89,524,147	F67L	possibly damaging	Het
Shprh	T	C	10: 11,207,112	F1562L	probably damaging	Het
Src	C	T	2: 157,469,921	T529M	probably damaging	Het
Sycp2l	T	A	13: 41,143,466	M341K	probably benign	Het
Syde1	T	C	10: 78,589,095		probably benign	Het
Tarsl2	A	T	7: 65,678,071	R509S	probably damaging	Het
Tle6	T	A	10: 81,594,346	H324L	probably damaging	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,046,845		probably benign	Het
Tnfrsf14	T	A	4: 154,925,380	K115*	probably null	Het
Trappc10	T	C	10: 78,201,497	N824S	possibly damaging	Het
Tsc1	C	T	2: 28,671,778	S309F	probably damaging	Het
Ttc21a	A	G	9: 119,961,842	I885V	possibly damaging	Het
Ttn	C	T	2: 76,740,453	A26699T	probably damaging	Het
Ttn	T	C	2: 76,948,371	Y1262C	unknown	Het
Usp49	T	C	17: 47,674,926		probably null	Het
Vmn1r226	A	T	17: 20,687,871	T122S	probably benign	Het
Vps8	A	T	16: 21,559,337	T1033S	probably benign	Het
Vwf	C	A	6: 125,685,837	T2728K	probably benign	Het
Wdr5b	T	C	16: 36,041,996	S162P	probably benign	Het
Xrn1	C	T	9: 96,026,877	Q1235*	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
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
R5979:Cfh	UTSW	1	140118671	missense	possibly damaging	0.66
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'- AGGTGGGAAATGCTTCCTAATACCACA -3'
(R):5'- CTCAGGTGACGGGATAGGTACTGAA -3'

Sequencing Primer
(F):5'- GACTTTAACACTTGGTGGCAAATC -3'
(R):5'- GTAGAAAAAATTCCATGTTCCCAGC -3'

Posted On

2013-07-11