Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03069:Cfh'

409845

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfh

Ensembl Gene

ENSMUSG00000026365

Gene Name

complement component factor h

Synonyms

Sas-1, Mud-1, Sas1

Accession Numbers

Essential gene?

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

Stock #

IGL03069

Quality Score

Status

Chromosome

Chromosomal Location

140013593-140111149 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 140026793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

P06909

Predicted Effect

probably benign
Transcript: ENSMUST00000066859

SMART Domains

Protein: ENSMUSP00000066677
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	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

SMART Domains

Protein: ENSMUSP00000107607
Gene: ENSMUSG00000026365

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 benign
Transcript: ENSMUST00000123238

SMART Domains

Protein: ENSMUSP00000115166
Gene: ENSMUSG00000026365

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

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	G	8: 13,607,704 (GRCm39)		probably null	Het
Acp3	T	C	9: 104,197,204 (GRCm39)	E145G	possibly damaging	Het
Ankrd28	T	A	14: 31,477,743 (GRCm39)	K42*	probably null	Het
Arsg	A	T	11: 109,454,082 (GRCm39)	K429N	probably damaging	Het
Bsn	G	A	9: 107,991,462 (GRCm39)	T1430I	probably damaging	Het
Calu	A	G	6: 29,356,582 (GRCm39)	D36G	possibly damaging	Het
Ccdc18	T	C	5: 108,376,767 (GRCm39)	S1403P	probably damaging	Het
Cdca2	A	G	14: 67,952,385 (GRCm39)		probably benign	Het
Cyp2c69	C	T	19: 39,869,537 (GRCm39)	G161S	probably benign	Het
Dennd4c	C	A	4: 86,692,674 (GRCm39)	Y61*	probably null	Het
Diaph3	A	G	14: 87,009,555 (GRCm39)	S1075P	probably damaging	Het
Dpp7	T	A	2: 25,245,735 (GRCm39)		probably null	Het
Dtd1	T	A	2: 144,588,981 (GRCm39)		probably benign	Het
Dtl	C	A	1: 191,289,008 (GRCm39)		probably benign	Het
Exoc3l4	A	G	12: 111,390,457 (GRCm39)	D344G	probably damaging	Het
Hsp90ab1	A	T	17: 45,879,954 (GRCm39)	C159S	possibly damaging	Het
Kcnip2	T	C	19: 45,784,710 (GRCm39)		probably benign	Het
Krba1	A	G	6: 48,391,483 (GRCm39)	T755A	possibly damaging	Het
L2hgdh	C	T	12: 69,739,173 (GRCm39)	V433I	probably benign	Het
Lamc1	A	T	1: 153,115,127 (GRCm39)	L1050I	probably damaging	Het
Lgals4	A	T	7: 28,540,343 (GRCm39)	I213L	probably benign	Het
Lysmd1	A	G	3: 95,044,945 (GRCm39)	I64V	probably damaging	Het
Mfsd4b4	A	C	10: 39,768,311 (GRCm39)	C261G	probably benign	Het
Mrgprb3	T	A	7: 48,293,198 (GRCm39)	I118F	possibly damaging	Het
Mtmr2	T	A	9: 13,704,501 (GRCm39)	Y137*	probably null	Het
Ofcc1	A	T	13: 40,226,140 (GRCm39)	H797Q	probably benign	Het
Omd	A	T	13: 49,745,870 (GRCm39)		probably benign	Het
Or5d46	C	T	2: 88,170,643 (GRCm39)		probably null	Het
Or8g21	A	T	9: 38,906,728 (GRCm39)	M1K	probably null	Het
Polr3a	T	A	14: 24,511,808 (GRCm39)	D916V	probably damaging	Het
Prpf38a	T	C	4: 108,432,628 (GRCm39)	Y117C	probably damaging	Het
Scn11a	C	T	9: 119,619,029 (GRCm39)	G771D	probably benign	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Snx1	T	A	9: 66,001,906 (GRCm39)	I306F	probably benign	Het
Snx31	T	A	15: 36,525,749 (GRCm39)	R317*	probably null	Het
Sorl1	T	C	9: 41,902,722 (GRCm39)	T1612A	probably benign	Het
Spag1	G	T	15: 36,224,245 (GRCm39)		probably benign	Het
Stambp	A	G	6: 83,538,914 (GRCm39)	F162S	probably damaging	Het
Tkfc	T	A	19: 10,576,518 (GRCm39)	M122L	probably benign	Het
Tnni3k	T	A	3: 154,647,242 (GRCm39)		probably null	Het
Trim56	T	C	5: 137,142,616 (GRCm39)	Q300R	probably damaging	Het
Ttc24	T	A	3: 87,977,408 (GRCm39)	T113S	probably benign	Het
Xirp2	A	T	2: 67,339,876 (GRCm39)	T706S	possibly damaging	Het
Yipf5	T	A	18: 40,339,290 (GRCm39)		probably benign	Het
Zfp202	T	C	9: 40,122,695 (GRCm39)	S486P	probably damaging	Het
Zfp407	A	G	18: 84,369,100 (GRCm39)	S1676P	probably damaging	Het
Znrd2	G	T	19: 5,780,450 (GRCm39)	L183I	possibly 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
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	140,075,435 (GRCm39)	missense	possibly damaging	0.55
R1729:Cfh	UTSW	1	140,064,526 (GRCm39)	missense	probably benign	0.02
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
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

Posted On

2016-08-02