Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02836:Cfh'

361642

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 #

IGL02836

Quality Score

Status

Chromosome

Chromosomal Location

140013593-140111149 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 140030137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 912 (I912R)

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: I912R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066677
Gene: ENSMUSG00000026365
AA Change: I912R

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

possibly damaging
Transcript: ENSMUST00000111976
AA Change: I930R

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107607
Gene: ENSMUSG00000026365
AA Change: I930R

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: I873R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107608
Gene: ENSMUSG00000026365
AA Change: I873R

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: I912R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115166
Gene: ENSMUSG00000026365
AA Change: I912R

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,349,782 (GRCm39)	N346K	possibly damaging	Het
Abca15	A	G	7: 119,987,439 (GRCm39)	M1242V	probably benign	Het
Abca6	T	A	11: 110,139,374 (GRCm39)	E33D	probably damaging	Het
Abca8a	T	C	11: 109,961,177 (GRCm39)	K582E	possibly damaging	Het
Abcb6	A	G	1: 75,154,646 (GRCm39)	L263P	probably damaging	Het
Adamts2	A	C	11: 50,678,106 (GRCm39)	E795A	probably damaging	Het
Avil	T	A	10: 126,844,864 (GRCm39)	I292N	probably damaging	Het
Cd300ld2	T	C	11: 114,904,576 (GRCm39)	D97G	probably benign	Het
Cyp26c1	A	T	19: 37,675,604 (GRCm39)	Q156L	probably benign	Het
Dhx57	T	C	17: 80,574,978 (GRCm39)	I614V	probably damaging	Het
Dip2c	T	A	13: 9,660,826 (GRCm39)	S896T	probably damaging	Het
Dmtn	G	T	14: 70,853,518 (GRCm39)	P97Q	probably damaging	Het
Dock6	A	T	9: 21,713,160 (GRCm39)	V1931E	probably damaging	Het
Dpep2	C	A	8: 106,717,227 (GRCm39)		probably null	Het
Dsg1c	T	A	18: 20,400,986 (GRCm39)	L163Q	probably benign	Het
Esyt3	A	G	9: 99,202,960 (GRCm39)		probably benign	Het
Fcgbp	T	A	7: 27,816,783 (GRCm39)	I2415N	possibly damaging	Het
Fpr-rs6	T	C	17: 20,403,307 (GRCm39)	D18G	probably benign	Het
Fras1	T	C	5: 96,682,725 (GRCm39)	V74A	possibly damaging	Het
Frem3	T	C	8: 81,341,010 (GRCm39)	V1101A	probably benign	Het
Fut8	T	A	12: 77,496,987 (GRCm39)	V399E	probably benign	Het
Galntl5	G	T	5: 25,391,237 (GRCm39)	K45N	probably benign	Het
Gbe1	A	G	16: 70,357,983 (GRCm39)	Y669C	possibly damaging	Het
Gcnt1	T	C	19: 17,307,493 (GRCm39)	I77M	probably benign	Het
Itprid1	T	A	6: 55,875,075 (GRCm39)	W342R	probably damaging	Het
Mark2	A	G	19: 7,255,405 (GRCm39)		probably null	Het
Muc2	A	T	7: 141,300,450 (GRCm39)		probably benign	Het
Nacc2	C	T	2: 25,980,329 (GRCm39)	V36I	probably damaging	Het
Nphp1	T	C	2: 127,611,543 (GRCm39)	I268V	probably benign	Het
Oosp3	A	G	19: 11,678,332 (GRCm39)	I5V	probably benign	Het
Or9m1	T	G	2: 87,733,724 (GRCm39)	T99P	possibly damaging	Het
Pex7	A	G	10: 19,769,990 (GRCm39)		probably benign	Het
Prr14l	T	C	5: 32,988,440 (GRCm39)	K352E	probably benign	Het
Rheb	T	A	5: 25,008,709 (GRCm39)	I170F	probably benign	Het
Rpgrip1	A	G	14: 52,382,714 (GRCm39)		probably null	Het
Rps2	T	A	17: 24,939,650 (GRCm39)	L107Q	probably damaging	Het
Rrp1	A	T	10: 78,240,874 (GRCm39)		probably benign	Het
Rtcb	A	T	10: 85,779,806 (GRCm39)	V288D	possibly damaging	Het
Sec14l3	T	C	11: 4,020,084 (GRCm39)	F174L	probably benign	Het
Slc28a1	G	A	7: 80,775,909 (GRCm39)	V202M	probably damaging	Het
Slc44a3	A	T	3: 121,325,366 (GRCm39)	C32S	probably damaging	Het
Syne1	G	A	10: 5,359,875 (GRCm39)		probably benign	Het
Synrg	C	A	11: 83,892,804 (GRCm39)		probably benign	Het
Tmem219	A	T	7: 126,488,121 (GRCm39)	F265I	probably benign	Het
Tmem94	T	C	11: 115,683,765 (GRCm39)	I726T	probably damaging	Het
Trim37	T	C	11: 87,087,785 (GRCm39)	M632T	probably benign	Het
Trpm6	A	T	19: 18,790,846 (GRCm39)	Q627L	probably damaging	Het
Uvrag	A	G	7: 98,628,984 (GRCm39)	V361A	possibly damaging	Het
Yipf3	C	A	17: 46,562,520 (GRCm39)	N308K	possibly damaging	Het
Zfp438	A	G	18: 5,245,427 (GRCm39)		probably benign	Het
Zmiz1	T	A	14: 25,657,166 (GRCm39)		probably benign	Het
Zranb3	A	G	1: 127,888,562 (GRCm39)	V841A	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
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	140,075,435 (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

2015-12-18