Mutagenetix > Incidental Mutation

Incidental Mutation 'R6610:Cfh'

525862

Institutional Source

Beutler Lab

Gene Symbol

Cfh

Ensembl Gene

ENSMUSG00000026365

Gene Name

complement component factor h

Synonyms

Sas-1, Mud-1, Sas1

MMRRC Submission

044733-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R6610 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140013593-140111149 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 140029486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 597 (C597*)

Gene Model

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

AlphaFold

P06909

Predicted Effect

probably null
Transcript: ENSMUST00000066859
AA Change: C936*

SMART Domains

Protein: ENSMUSP00000066677
Gene: ENSMUSG00000026365
AA Change: C936*

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 null
Transcript: ENSMUST00000111976
AA Change: C954*

SMART Domains

Protein: ENSMUSP00000107607
Gene: ENSMUSG00000026365
AA Change: C954*

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 null
Transcript: ENSMUST00000111977
AA Change: C897*

SMART Domains

Protein: ENSMUSP00000107608
Gene: ENSMUSG00000026365
AA Change: C897*

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 null
Transcript: ENSMUST00000123238
AA Change: C936*

SMART Domains

Protein: ENSMUSP00000115166
Gene: ENSMUSG00000026365
AA Change: C936*

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 null
Transcript: ENSMUST00000192919
AA Change: C597*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (42/42)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	A	T	9: 21,437,561 (GRCm39)	M1L	probably benign	Het
Adam26b	T	C	8: 43,974,190 (GRCm39)	K271E	probably damaging	Het
Ankrd44	A	G	1: 54,694,246 (GRCm39)	I914T	probably benign	Het
Atp12a	A	G	14: 56,612,013 (GRCm39)	R396G	probably damaging	Het
C2cd3	A	G	7: 100,104,505 (GRCm39)	K2173E	probably benign	Het
Cbx2	A	G	11: 118,915,036 (GRCm39)	D51G	probably damaging	Het
Ccdc33	T	A	9: 57,976,419 (GRCm39)	T532S	possibly damaging	Het
Ccnt1	T	C	15: 98,462,982 (GRCm39)	I63M	probably damaging	Het
Cdc20b	C	T	13: 113,200,796 (GRCm39)	T172I	probably benign	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Ces2f	T	G	8: 105,676,738 (GRCm39)		probably null	Het
Cntnap2	A	T	6: 45,992,191 (GRCm39)	T373S	probably benign	Het
Cyb5r4	T	G	9: 86,941,470 (GRCm39)	C64G	probably benign	Het
Cyp2c23	A	G	19: 43,995,520 (GRCm39)	F416L	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Eif4e1b	A	G	13: 54,932,128 (GRCm39)		probably benign	Het
Elp1	A	G	4: 56,758,236 (GRCm39)	V1227A	probably benign	Het
Etl4	G	A	2: 20,718,180 (GRCm39)	R256K	probably damaging	Het
Fhad1	A	G	4: 141,643,707 (GRCm39)	L1054P	possibly damaging	Het
Grik1	A	G	16: 87,831,200 (GRCm39)	I190T	probably damaging	Het
Gsdmc2	T	C	15: 63,696,857 (GRCm39)	N438S	probably benign	Het
Igkv15-103	A	T	6: 68,414,617 (GRCm39)	R19*	probably null	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Lhcgr	A	T	17: 89,077,307 (GRCm39)	I93K	possibly damaging	Het
Muc6	G	C	7: 141,226,700 (GRCm39)		probably benign	Het
Mymk	G	T	2: 26,957,405 (GRCm39)	S29R	possibly damaging	Het
Nab2	A	T	10: 127,500,207 (GRCm39)	I295N	probably damaging	Het
Neu2	A	T	1: 87,524,407 (GRCm39)	T131S	probably benign	Het
Pdcd7	T	A	9: 65,261,965 (GRCm39)	M129K	possibly damaging	Het
Ptar1	A	G	19: 23,695,208 (GRCm39)	H225R	probably benign	Het
Pygb	T	A	2: 150,665,886 (GRCm39)		probably null	Het
Rpap3	T	C	15: 97,586,049 (GRCm39)	D314G	probably benign	Het
Scara3	A	G	14: 66,168,670 (GRCm39)	S316P	probably damaging	Het
Sec24a	C	T	11: 51,587,483 (GRCm39)	V1051I	probably benign	Het
Setdb1	G	T	3: 95,235,888 (GRCm39)	A841D	probably damaging	Het
Stk32b	G	A	5: 37,606,022 (GRCm39)	T407I	probably benign	Het
Tcte2	G	A	17: 13,948,250 (GRCm39)	Q10*	probably null	Het
Tgm2	C	A	2: 157,985,020 (GRCm39)	E29*	probably null	Het
Trim32	G	A	4: 65,533,308 (GRCm39)	V622M	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Tyk2	G	T	9: 21,019,312 (GRCm39)	Q1014K	probably benign	Het
Vmn1r123	A	G	7: 20,896,515 (GRCm39)	N136D	probably benign	Het
Vmn2r31	A	T	7: 7,387,588 (GRCm39)	V661E	probably damaging	Het
Vmn2r85	A	T	10: 130,261,838 (GRCm39)	F166L	probably damaging	Het
Zfp426	T	C	9: 20,384,389 (GRCm39)	K98R	probably damaging	Het
Zfp534	C	T	4: 147,758,947 (GRCm39)	R574K	probably benign	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
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
R7191:Cfh	UTSW	1	140,040,305 (GRCm39)	missense	probably benign	0.04
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'- TGACTTCCAGCATCCAGAAC -3'
(R):5'- TGCCACCAAGTGTTAAAGTCC -3'

Sequencing Primer
(F):5'- TCCAGAACTATGCAGTAGAACCTTC -3'
(R):5'- CAGAATGTGGTATTAGGAAGCATTTC -3'

Posted On

2018-06-22